Ostm1 MGI Mouse Gene Detail - MGI:2655574 - osteopetrosis associated transmembrane protein 1

Symbol

Ostm1
Name

osteopetrosis associated transmembrane protein 1
Synonyms

1200002H13Rik, gl, HSPC019

Feature Type

protein coding gene
IDs

MGI:2655574
NCBI Gene: 14628
Alliance

genome feature page
Transcription Start Sites

3 TSS

Sequence Map

Chr10:42554912-42578458 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 22.89 cM
Mapping Data

9 experiments

SNPs within 2kb

915 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2655574	protein coding gene	Chr10:42459818-42578458 (+)
129S1/SvImJ	ENSMUSG00200008717	protein coding gene	Chr10:39338175-39467104 (+)
A/J	ENSMUSG00195016897	protein coding gene	Chr10:39621696-39750437 (+)
AKR/J	ENSMUSG00220026463	protein coding gene	Chr10:39310893-39439645 (+)
BALB/cJ	ENSMUSG00180014987	protein coding gene	Chr10:39705825-39834586 (+)
C3H/HeJ	ENSMUSG00175011162	protein coding gene	Chr10:39500930-39629653 (+)
C57BL/6NJ	ENSMUSG00215007632	protein coding gene	Chr10:39250278-39379026 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015281	protein coding gene	Chr10:37997642-38123308 (+)
CAST/EiJ	ENSTCUG00005027199	protein coding gene	Chr10:39697234-39827385 (+)
CBA/J	ENSMUSG00210025229	protein coding gene	Chr10:39394457-39523190 (+)
DBA/2J	ENSMUSG00185006795	protein coding gene	Chr10:39547032-39675765 (+)
FVB/NJ	ENSMUSG00205011389	protein coding gene	Chr10:39462309-39591054 (+)
JF1/MsJ	ENSUMUG00000021726	protein coding gene	Chr10:39328261-39467825 (+)
LP/J	ENSMUSG00230005564	protein coding gene	Chr10:41327960-41456890 (+)
NOD/ShiLtJ	ENSMUSG00190031516	protein coding gene	Chr10:39675126-39803853 (+)
NZO/HlLtJ	ENSMUSG00225016180	protein coding gene	Chr10:45639994-45768716 (+)
PWK/PhJ	ENSLUMG00010007610	protein coding gene	Chr10:39444024-39574481 (+)
SPRET/EiJ	ENSMSPG00010019847	protein coding gene	Chr10:40474869-40600199 (+)
WSB/EiJ	ENSIUOG00005014765	protein coding gene	Chr10:39219194-39348456 (+)

Human Ortholog

OSTM1, osteoclastogenesis associated transmembrane protein 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

OSTM1, osteoclastogenesis associated transmembrane protein 1
Synonyms

GIPN, GL, HSPC019, OPTB5
Links

HGNC:21652

NCBI Gene ID: 28962

UniProt: Q86WC4
Chr Location

6q21; chr6:108029245-108165854 (-) GRCh38

MGI Vertebrate Homology

Ostm1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: OSTM1
Gene Tree

Ostm1

Diseases

1 with Ostm1 mouse models; 1 with human OSTM1 associations

Human Disease

Mouse Models

autosomal recessive osteopetrosis 5

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

41 phenotypes from 2 alleles in 3 genetic backgrounds
1 images
38 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

9
Chemically induced (other)

1
Endonuclease-mediated

2
Radiation induced

1
Spontaneous

2
Targeted

3
Genomic Mutations

2 involving Ostm1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

23 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

A model for osteopetrosis, mice homozygous for mutations of this gene display osteogenic abnormalities, including failure of tooth eruption. Mutants also have abnormal coat color as well as a reduced life span.

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All GO Annotations

12
GO References

6

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

655
Tissues

34
cDNA Data

50
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ostm1

ZFIN ostm1

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All Sequences

43
RefSeq

2
UniProt

3
CCDS

CCDS23814.1

Ensembl

ENSMUSG00000038280 (Evidence)
NCBI Gene

14628

			Length	Strain/Species	Flank
genomic	14628	NCBI Gene Model \| MGI Sequence Detail	23547	C57BL/6J	± kb
transcript	NM_172416	RefSeq \| MGI Sequence Detail	3009	ZRU/MplStud
polypeptide	Q8BGT0	UniProt \| EBI \| MGI Sequence Detail	338	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000012068 osteopetrosis-associated transmembrane protein 1

(term hierarchy)
InterPro Domains

IPR019172 Osteopetrosis-associated transmembrane protein 1 precursor
GlyGen

Q8BGT0 10 sites, 10 N-linked glycans (6 sites)

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All nucleic 52

Genomic 1

cDNA 50

Primer pair 1

Microarray probesets 3

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MGD-MRK-10102, MGI:1921359, MGI:2143814, MGI:95725

Summaries

All 64

Developmental Gene Expression 1

Diseases 1

Gene Ontology 6

Phenotypes 38
Earliest

J:15551 Gruneberg H, A new sub-lethal colour mutation in the house mouse. Proc R Soc Lond B Biol Sci. 1935;118:321-42
Latest

J:323870 Mutabaruka MS, et al., A Foxo1-Klf2-S1pr1-Gnai1-Rac1 signaling axis is a critical mediator of Ostm1 regulatory network in T lymphopoiesis. iScience. 2022 Apr 15;25(4):104160

TSS for Ostm1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr93100	Chr10:42554886-42554944 (+)	3 bp
Tssr93101	Chr10:42554947-42554971 (+)	47 bp
Tssr93102	Chr10:42576722-42576725 (+)	21,812 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 09/01/2026 MGI 6.24