Arid1b MGI Mouse Gene Detail - MGI:1926129 - AT-rich interaction domain 1B

Symbol

Arid1b
Name

AT-rich interaction domain 1B
Synonyms

9330189K18Rik, B230217J03Rik, mKIAA1235

Feature Type

protein coding gene
IDs

MGI:1926129
NCBI Gene: 239985
Alliance

gene page
Transcription Start Sites

30 TSS

Sequence Map

Chr17:5044607-5397931 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 2.83 cM
Mapping Data

3 experiments

SNPs within 2kb

10395 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1926129	protein coding gene	Chr17:5044481-5397931 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023102	protein coding gene	Chr17:2080171-2449188 (+)
A/J	MGP_AJ_G0023073	protein coding gene	Chr17:2061951-2415510 (+)
AKR/J	MGP_AKRJ_G0023039	protein coding gene	Chr17:2095070-2456245 (+)
BALB/cJ	MGP_BALBcJ_G0023075	protein coding gene	Chr17:2035423-2385632 (+)
C3H/HeJ	MGP_C3HHeJ_G0022834	protein coding gene	Chr17:2136573-2498143 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023521	protein coding gene	Chr17:2238826-2608465 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021021	protein coding gene	Chr17:1883084-2237734 (+)
CAST/EiJ	MGP_CASTEiJ_G0022353	protein coding gene	Chr17:2150398-2511728 (+)
CBA/J	MGP_CBAJ_G0022802	protein coding gene	Chr17:2310048-2698982 (+)
DBA/2J	MGP_DBA2J_G0022937	protein coding gene	Chr17:1926120-2277039 (+)
FVB/NJ	MGP_FVBNJ_G0022911	protein coding gene	Chr17:1968914-2322459 (+)
LP/J	MGP_LPJ_G0023006	protein coding gene	Chr17:2206524-2573407 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022932	protein coding gene	Chr17:2215235-2585185 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023538	protein coding gene	Chr17:2131458-2498881 (+)
PWK/PhJ	MGP_PWKPhJ_G0022098	protein coding gene	Chr17:1981430-2351683 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021926	protein coding gene	Chr17:2079335-2442421 (+)
WSB/EiJ	MGP_WSBEiJ_G0022404	protein coding gene	Chr17:2085388-2455138 (+)

Human Ortholog

ARID1B, AT-rich interaction domain 1B

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ARID1B, AT-rich interaction domain 1B
Synonyms

6A3-5, BAF250B, BRIGHT, CSS1, DAN15, ELD/OSA1, MRD12, OSA2, P250R, SMARCF2
Links

HGNC:18040

NCBI Gene ID: 57492

neXtProt AC: NX_Q8NFD5

UniProt: Q8NFD5
Chr Location

6q25.3; chr6:156776020-157210779 (+) GRCh38

MGI Vertebrate Homology

Arid1b stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ARID1B
Gene Tree

Arid1b

Diseases

2 with Arid1b mouse models; 5 with human ARID1B associations

Human Disease

Mouse Models

Coffin-Siris syndrome 1

IDs

View 1 model

autism spectrum disorder

IDs

View 2 models

Coffin-Siris syndrome

IDs

intellectual disability

IDs

lung non-small cell carcinoma

IDs

neuroblastoma

IDs

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

Mutations/Alleles

2 with disease annotations

References

2 with disease annotations

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Phenotype Summary

55 phenotypes from 4 alleles in 4 genetic backgrounds
30 phenotype references

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

59
Endonuclease-mediated

6
Gene trapped

48
Radiation induced

1
Targeted

4
Genomic Mutations

1 involving Arid1b
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

109 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele die perinatally. Heterozygous null mice exhibit increased self-grooming, altered vocalization and response to social novelty, anxiety-like behavior, neuroanatomical anomalies, decreased plasma IGF1 levels, muscle weakness, and growth impairment.

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All GO Annotations

23
GO References

11

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

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

845
Tissues

127
cDNA Data

59
Literature Summary

22

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase arid1b

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All Sequences

63
RefSeq

6
UniProt

7
CCDS

CCDS49929.1

Ensembl

ENSMUSG00000069729 (Evidence)
NCBI Gene

239985

			Length	Strain/Species	Flank
genomic	ENSMUSG00000069729	Ensembl Gene Model \| MGI Sequence Detail	353325	C57BL/6J	± kb
transcript	ENSMUST00000232180	Ensembl \| MGI Sequence Detail	7309	Not Applicable
polypeptide	ENSMUSP00000156119	Ensembl \| MGI Sequence Detail	2296	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000004263 AT-rich interactive domain-containing protein 1B

(term hierarchy)
InterPro Domains

IPR001606 ARID DNA-binding domain

IPR036431 ARID DNA-binding domain superfamily

IPR011989 Armadillo-like helical

IPR016024 Armadillo-type fold

IPR038040 AT-rich interactive domain-containing protein 1B, ARID domain

IPR033388 SWI/SNF-like complex subunit BAF250, C-terminal

IPR021906 SWI/SNF-like complex subunit BAF250/Osa

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All nucleic 63

cDNA 60

Primer pair 1

Other 2

Microarray probesets 5

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MGI:1924763, MGI:2146926

Summaries

All 88

Developmental Gene Expression 22

Diseases 2

Gene Ontology 11

Phenotypes 30
Earliest

J:320308 Valka I, et al., Separation and Quantification of Some Alkaloids from Fumaria parviflora by Capillary Isotachophoresis1. Planta Med. 1985 Aug;51(4):319-22
Latest

J:350444 Martinez-Mayer J, et al., Knockout mice with pituitary malformations help identify human cases of hypopituitarism. Genome Med. 2024 May 31;16(1):75

TSS for Arid1b:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr142379	Chr17:5044561-5044648 (+)	-2 bp
Tssr142380	Chr17:5044766-5044806 (+)	179 bp
Tssr4984	Chr17:5044887-5044933 (+)	303 bp
Tssr142381	Chr17:5044972-5045005 (+)	382 bp
Tssr142382	Chr17:5045179-5045228 (+)	597 bp
Tssr142383	Chr17:5045939-5045968 (+)	1,347 bp
Tssr142384	Chr17:5046177-5046234 (+)	1,599 bp
Tssr142385	Chr17:5046257-5046264 (+)	1,654 bp
Tssr142386	Chr17:5050825-5050828 (+)	6,220 bp
Tssr142387	Chr17:5063083-5063107 (+)	18,488 bp
Tssr142388	Chr17:5063116-5063127 (+)	18,515 bp
Tssr142389	Chr17:5108241-5108244 (+)	63,636 bp
Tssr142390	Chr17:5123264-5123267 (+)	78,659 bp
Tssr142392	Chr17:5140356-5140397 (+)	95,770 bp
Tssr142393	Chr17:5153518-5153523 (+)	108,914 bp
Tssr142394	Chr17:5185209-5185213 (+)	140,604 bp
Tssr142395	Chr17:5202922-5202933 (+)	158,321 bp
Tssr142396	Chr17:5211221-5211225 (+)	166,616 bp
Tssr142397	Chr17:5240174-5240192 (+)	195,576 bp
Tssr142398	Chr17:5245976-5246012 (+)	201,387 bp
Tssr142399	Chr17:5278172-5278173 (+)	233,566 bp
Tssr142400	Chr17:5293265-5293274 (+)	248,663 bp
Tssr142401	Chr17:5328728-5328739 (+)	284,127 bp
Tssr142402	Chr17:5328777-5328782 (+)	284,173 bp
Tssr142403	Chr17:5375235-5375240 (+)	330,631 bp
Tssr142404	Chr17:5382819-5382857 (+)	338,231 bp
Tssr142405	Chr17:5385097-5385106 (+)	340,495 bp
Tssr142406	Chr17:5385112-5385125 (+)	340,512 bp
Tssr142407	Chr17:5386945-5386959 (+)	342,345 bp
Tssr142408	Chr17:5394247-5394253 (+)	349,643 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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