Irs1 MGI Mouse Gene Detail - MGI:99454 - insulin receptor substrate 1

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Irs1 Gene Detail

Symbol

Irs1
Name

insulin receptor substrate 1
Synonyms

G972R, IRS-1

Feature Type

protein coding gene
IDs

MGI:99454
NCBI Gene: 16367
Alliance

gene page
Transcription Start Sites

9 TSS
Candidate for QTL

8 QTL

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Sequence Map

Chr1:82210822-82269137 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 42.00 cM, cytoband C5
Mapping Data

3 experiments

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SNPs within 2kb

1417 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_99454	protein coding gene	Chr1:82210822-82269160 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016213	protein coding gene	Chr1:83141762-83200925 (-)
A/J	MGP_AJ_G0016196	protein coding gene	Chr1:80181999-80246727 (-)
AKR/J	MGP_AKRJ_G0016153	protein coding gene	Chr1:82369986-82436506 (-)
BALB/cJ	MGP_BALBcJ_G0016151	protein coding gene	Chr1:80268788-80327372 (-)
C3H/HeJ	MGP_C3HHeJ_G0015981	protein coding gene	Chr1:82753960-82814460 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0016604	protein coding gene	Chr1:86344306-86404098 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014324	protein coding gene	Chr1:75425019-75484456 (-)
CAST/EiJ	MGP_CASTEiJ_G0015568	protein coding gene	Chr1:82218187-82224989 (-)
CBA/J	MGP_CBAJ_G0015955	protein coding gene	Chr1:89114856-89178672 (-)
DBA/2J	MGP_DBA2J_G0016056	protein coding gene	Chr1:79480699-79543265 (-)
FVB/NJ	MGP_FVBNJ_G0016059	protein coding gene	Chr1:78593365-78651516 (-)
LP/J	MGP_LPJ_G0016129	protein coding gene	Chr1:84271279-84334134 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016079	protein coding gene	Chr1:92527592-92589304 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016651	protein coding gene	Chr1:82552106-82613115 (-)
PWK/PhJ	MGP_PWKPhJ_G0015353	protein coding gene	Chr1:78977924-78984720 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015130	protein coding gene	Chr1:81754828-81815725 (-)
WSB/EiJ	MGP_WSBEiJ_G0015627	protein coding gene	Chr1:82328345-82390437 (-)

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Human Ortholog

IRS1, insulin receptor substrate 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

IRS1, insulin receptor substrate 1
Synonyms

HIRS-1
Links

HGNC:6125

NCBI Gene ID: 3667

neXtProt AC: NX_P35568

UniProt: P35568
Chr Location

2q36.3; chr2:226731312-226799820 (-) GRCh38

MGI Vertebrate Homology

Irs1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: IRS1
Gene Tree

Irs1

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Diseases

1 with Irs1 mouse models; 4 with human IRS1 associations

Human Disease

Mouse Models

Human and Mouse genes associated with disease

Human and Mouse genes associated with disease

type 2 diabetes mellitus

IDs

View 3 models

Human gene associated with disease

Alzheimer's disease

IDs

coronary artery disease

IDs

uterine fibroid

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

2 with disease annotations

References

3 with disease annotations

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Phenotype Summary

67 phenotypes from 11 alleles in 13 genetic backgrounds
34 phenotypes from multigenic genotypes
115 phenotype references

Phenotype Overview

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

18
Chemically induced (ENU)

2
Chemically induced (other)

1
Endonuclease-mediated

3
Radiation induced

1
Spontaneous

3
Targeted

8
Genomic Mutations

2 involving Irs1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

52 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for targeted null mutations exhibit 50 percent reductions in body weights at birth and at 4 months of age, impaired glucose tolerance, and mild insulin and IGF-1 resistance.

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All GO Annotations

97
GO References

32

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

765
Tissues

51
cDNA Data

12
Literature Summary

17

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase irs1

ZFIN irs1

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All Sequences

37
RefSeq

2
UniProt

2
CCDS

CCDS15096.1

Ensembl

ENSMUSG00000055980 (Evidence)
NCBI Gene

16367

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000055980	Ensembl Gene Model \| MGI Sequence Detail	58316	C57BL/6J	± kb
	transcript	ENSMUST00000069799	Ensembl \| MGI Sequence Detail	9144	Not Applicable
	polypeptide	ENSMUSP00000063795	Ensembl \| MGI Sequence Detail	1231	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000009107 insulin receptor substrate 1

(term hierarchy)
PDB

1AYB, 5AXI
InterPro Domains

IPR039011 Insulin receptor substrate

IPR002404 IRS-type PTB domain

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain
GlyGen

P35569 4 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (2 sites)

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All nucleic 24

Genomic 7

cDNA 12

Primer pair 4

Other 1

Microarray probesets 4

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MGD-MRK-16223

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Summaries

All 273

Developmental Gene Expression 17

Diseases 3

Gene Ontology 32

Phenotypes 115
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:346448 Yuan W, et al., Myocardin reverses insulin resistance and ameliorates cardiomyopathy by increasing IRS-1 expression in a murine model of lipodystrophy caused by adipose deficiency of vacuolar H(+)-ATPase V0d1 subunit. Theranostics. 2024;14(5):2246-2264

TSS for Irs1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr12509	Chr1:82269318-82269338 (-)	-191 bp
Tssr12508	Chr1:82269091-82269115 (-)	34 bp
Tssr12507	Chr1:82268835-82268895 (-)	272 bp
Tssr12506	Chr1:82268619-82268638 (-)	508 bp
Tssr12505	Chr1:82265163-82265183 (-)	3,964 bp
Tssr12504	Chr1:82265094-82265108 (-)	4,036 bp
Tssr12499	Chr1:82259010-82259014 (-)	10,125 bp
Tssr12498	Chr1:82214809-82214812 (-)	54,326 bp
Tssr12497	Chr1:82214123-82214137 (-)	55,007 bp

Irs1 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Insq2	Chr1, syntenic		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. A potential candidate gene for Obq2 at 15 cM on mouse Chromosome 1 as identified by ExQuest is Gsta3. For QTLs Obq7 (28.7 cM), Wt6q1 (27 cM), Insq2 (36cM), and Insq6 (37 cM), potential candidate genes Aox1 (23.2 cM), Fn1 (36.1 cM), Pecr, Igfbp2 (36.1 cM), Plcd4 (39.2 cM), Scg2 (43.6 cM), Irs1, and Inpp5d (57 cM) were identified. For QTL Nidd6 (77 cM), potential candidate gene Qscn6 was identified. For QTL Obq9 (88.4 cM), potential candidate genes Fmo1, Fmo3, and Apoa2 (92.6 cM) were identified. For QTL Wt6q2 (108 cM), potential candidate gene Hsd11b1 was identified.
Insq6	Chr1, 38.01 cM	Chr1:73726922-73727077	J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. A potential candidate gene for Obq2 at 15 cM on mouse Chromosome 1 as identified by ExQuest is Gsta3. For QTLs Obq7 (28.7 cM), Wt6q1 (27 cM), Insq2 (36cM), and Insq6 (37 cM), potential candidate genes Aox1 (23.2 cM), Fn1 (36.1 cM), Pecr, Igfbp2 (36.1 cM), Plcd4 (39.2 cM), Scg2 (43.6 cM), Irs1, and Inpp5d (57 cM) were identified. For QTL Nidd6 (77 cM), potential candidate gene Qscn6 was identified. For QTL Obq9 (88.4 cM), potential candidate genes Fmo1, Fmo3, and Apoa2 (92.6 cM) were identified. For QTL Wt6q2 (108 cM), potential candidate gene Hsd11b1 was identified.
Nidd6	Chr1, 65.11 cM		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. A potential candidate gene for Obq2 at 15 cM on mouse Chromosome 1 as identified by ExQuest is Gsta3. For QTLs Obq7 (28.7 cM), Wt6q1 (27 cM), Insq2 (36cM), and Insq6 (37 cM), potential candidate genes Aox1 (23.2 cM), Fn1 (36.1 cM), Pecr, Igfbp2 (36.1 cM), Plcd4 (39.2 cM), Scg2 (43.6 cM), Irs1, and Inpp5d (57 cM) were identified. For QTL Nidd6 (77 cM), potential candidate gene Qscn6 was identified. For QTL Obq9 (88.4 cM), potential candidate genes Fmo1, Fmo3, and Apoa2 (92.6 cM) were identified. For QTL Wt6q2 (108 cM), potential candidate gene Hsd11b1 was identified.
Obq2	Chr1, 6.50 cM	Chr1:20941620-20941887	J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. A potential candidate gene for Obq2 at 15 cM on mouse Chromosome 1 as identified by ExQuest is Gsta3. For QTLs Obq7 (28.7 cM), Wt6q1 (27 cM), Insq2 (36cM), and Insq6 (37 cM), potential candidate genes Aox1 (23.2 cM), Fn1 (36.1 cM), Pecr, Igfbp2 (36.1 cM), Plcd4 (39.2 cM), Scg2 (43.6 cM), Irs1, and Inpp5d (57 cM) were identified. For QTL Nidd6 (77 cM), potential candidate gene Qscn6 was identified. For QTL Obq9 (88.4 cM), potential candidate genes Fmo1, Fmo3, and Apoa2 (92.6 cM) were identified. For QTL Wt6q2 (108 cM), potential candidate gene Hsd11b1 was identified.
Obq7	Chr1, 33.31 cM		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. A potential candidate gene for Obq2 at 15 cM on mouse Chromosome 1 as identified by ExQuest is Gsta3. For QTLs Obq7 (28.7 cM), Wt6q1 (27 cM), Insq2 (36cM), and Insq6 (37 cM), potential candidate genes Aox1 (23.2 cM), Fn1 (36.1 cM), Pecr, Igfbp2 (36.1 cM), Plcd4 (39.2 cM), Scg2 (43.6 cM), Irs1, and Inpp5d (57 cM) were identified. For QTL Nidd6 (77 cM), potential candidate gene Qscn6 was identified. For QTL Obq9 (88.4 cM), potential candidate genes Fmo1, Fmo3, and Apoa2 (92.6 cM) were identified. For QTL Wt6q2 (108 cM), potential candidate gene Hsd11b1 was identified.
Obq9	Chr1, 74.68 cM		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. A potential candidate gene for Obq2 at 15 cM on mouse Chromosome 1 as identified by ExQuest is Gsta3. For QTLs Obq7 (28.7 cM), Wt6q1 (27 cM), Insq2 (36cM), and Insq6 (37 cM), potential candidate genes Aox1 (23.2 cM), Fn1 (36.1 cM), Pecr, Igfbp2 (36.1 cM), Plcd4 (39.2 cM), Scg2 (43.6 cM), Irs1, and Inpp5d (57 cM) were identified. For QTL Nidd6 (77 cM), potential candidate gene Qscn6 was identified. For QTL Obq9 (88.4 cM), potential candidate genes Fmo1, Fmo3, and Apoa2 (92.6 cM) were identified. For QTL Wt6q2 (108 cM), potential candidate gene Hsd11b1 was identified.
Wt6q1	Chr1, syntenic		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. A potential candidate gene for Obq2 at 15 cM on mouse Chromosome 1 as identified by ExQuest is Gsta3. For QTLs Obq7 (28.7 cM), Wt6q1 (27 cM), Insq2 (36cM), and Insq6 (37 cM), potential candidate genes Aox1 (23.2 cM), Fn1 (36.1 cM), Pecr, Igfbp2 (36.1 cM), Plcd4 (39.2 cM), Scg2 (43.6 cM), Irs1, and Inpp5d (57 cM) were identified. For QTL Nidd6 (77 cM), potential candidate gene Qscn6 was identified. For QTL Obq9 (88.4 cM), potential candidate genes Fmo1, Fmo3, and Apoa2 (92.6 cM) were identified. For QTL Wt6q2 (108 cM), potential candidate gene Hsd11b1 was identified.
Wt6q2	Chr1, syntenic		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. A potential candidate gene for Obq2 at 15 cM on mouse Chromosome 1 as identified by ExQuest is Gsta3. For QTLs Obq7 (28.7 cM), Wt6q1 (27 cM), Insq2 (36cM), and Insq6 (37 cM), potential candidate genes Aox1 (23.2 cM), Fn1 (36.1 cM), Pecr, Igfbp2 (36.1 cM), Plcd4 (39.2 cM), Scg2 (43.6 cM), Irs1, and Inpp5d (57 cM) were identified. For QTL Nidd6 (77 cM), potential candidate gene Qscn6 was identified. For QTL Obq9 (88.4 cM), potential candidate genes Fmo1, Fmo3, and Apoa2 (92.6 cM) were identified. For QTL Wt6q2 (108 cM), potential candidate gene Hsd11b1 was identified.

*cM position of peak correlated region/marker

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