Gm572 MGI Mouse Gene Detail - MGI:2685418

Symbol

Gm572
Name

predicted gene 572
Synonyms

b2b1167Clo, LOC230909

Feature Type

protein coding gene
IDs

MGI:2685418
NCBI Gene: 230909
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr4:148727774-148756029 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 78.82 cM
Mapping Data

1 experiment

SNPs within 2kb

374 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2685418	protein coding gene	Chr4:148727774-148761562 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0029130	protein coding gene	Chr4:152391777-152421042 (+)
A/J	MGP_AJ_G0029095	protein coding gene	Chr4:146083462-146112890 (+)
AKR/J	MGP_AKRJ_G0029043	protein coding gene	Chr4:150063101-150094771 (+)
BALB/cJ	MGP_BALBcJ_G0029111	protein coding gene	Chr4:146580887-146610669 (+)
C3H/HeJ	MGP_C3HHeJ_G0028832	protein coding gene	Chr4:150618998-150653151 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029560	protein coding gene	Chr4:157913206-157948447 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026806	protein coding gene	Chr4:138495558-138528378 (+)
CAST/EiJ	MGP_CASTEiJ_G0028245	protein coding gene	Chr4:147825903-147857776 (+)
CBA/J	MGP_CBAJ_G0028794	protein coding gene	Chr4:162524382-162564703 (+)
DBA/2J	MGP_DBA2J_G0028943	protein coding gene	Chr4:146187858-146217542 (+)
FVB/NJ	MGP_FVBNJ_G0028907	protein coding gene	Chr4:145276136-145312299 (+)
LP/J	MGP_LPJ_G0029033	protein coding gene	Chr4:152350780-152379647 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028934	protein coding gene	Chr4:165814458-165846807 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029592	protein coding gene	Chr4:150551805-150585539 (+)
PWK/PhJ	MGP_PWKPhJ_G0027965	protein coding gene	Chr4:142176849-142206622 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027799	protein coding gene	Chr4:144796123-144828855 (+)
WSB/EiJ	MGP_WSBEiJ_G0028325	protein coding gene	Chr4:150712179-150740474 (+)

Human Ortholog

C1orf127, chromosome 1 open reading frame 127

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

C1orf127, chromosome 1 open reading frame 127
Links

HGNC:26730

NCBI Gene ID: 148345

UniProt: Q8N9H9
Chr Location

1p36.22; chr1:10946471-10982076 (-) GRCh38

MGI Vertebrate Homology

Gm572 stringent orthology
1 human;1 mouse;1 zebrafish
HCOP

vertebrate homology predictions: C1orf127
Gene Tree

Gm572

Diseases

3 with Gm572 mouse models

Human Disease

Mouse Models

Kartagener syndrome

IDs

View 1 model

primary ciliary dyskinesia

IDs

View 1 model

visceral heterotaxy

IDs

View 1 model

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

13 phenotypes from 2 alleles in 2 genetic backgrounds
22 images
10 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

27
Chemically induced (ENU)

1
Gene trapped

21
Targeted

5
Genomic Mutations

1 involving Gm572
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

39 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for an ENU-induced allele show cardiovascular defects including double outlet right ventricle, dextrocardia and atrioventricular septal defects, heterotaxia with situs inversus totalis and right pulmonary isomerism, spleen hypoplasia, mid-line liver, and immotile respiratory cilia.

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All GO Annotations

2
GO References

1

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

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

No experimental evidence to support Cellular Component annotation, following literature review. See J:73796.

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

719
Tissues

6
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas

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All Sequences

35
RefSeq

12
UniProt

1
CCDS

CCDS51378.1

Ensembl

ENSMUSG00000070577 (Evidence)
NCBI Gene

230909

			Length	Strain/Species	Flank
genomic	ENSMUSG00000070577	Ensembl Gene Model \| MGI Sequence Detail	28256	C57BL/6J	± kb
transcript	ENSMUST00000105698	Ensembl \| MGI Sequence Detail	1385	Not Applicable
polypeptide	ENSMUSP00000101323	Ensembl \| MGI Sequence Detail	399	Not Applicable

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UniProt

1 Sequence
InterPro Domains

IPR027956 C1orf127-like

IPR049521 Domain of unknown function DUF4556

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Microarray probesets 1

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MGI:5431486

Summaries

All 20

Developmental Gene Expression 1

Diseases 1

Gene Ontology 1

Phenotypes 10
Earliest

J:84714 Nishijima I, et al., Two new balancer chromosomes on mouse chromosome 4 to facilitate functional annotation of human chromosome 1p. Genesis. 2003 Jul;36(3):142-8
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Gm572:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr40296	Chr4:148748778-148748798 (+)	21,014 bp
Tssr40297	Chr4:148748806-148748813 (+)	21,036 bp
Tssr40298	Chr4:148751633-148751656 (+)	23,871 bp
Tssr40299	Chr4:148751662-148751678 (+)	23,896 bp
Tssr40300	Chr4:148751687-148751713 (+)	23,926 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24