Col13a1 MGI Mouse Gene Detail - MGI:1277201 - collagen, type XIII, alpha 1

Symbol

Col13a1
Name

collagen, type XIII, alpha 1

Feature Type

protein coding gene
IDs

MGI:1277201
NCBI Gene: 12817
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr10:61674015-61814887 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 32.29 cM, cytoband B4
Mapping Data

9 experiments

SNPs within 2kb

4118 from dbSNP Build 142
Strain Annotations

18
PCR

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1277201	protein coding gene	Chr10:61674013-61814985 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0017289	protein coding gene	Chr10:61215097-61360548 (-)
A/J	MGP_AJ_G0017267	protein coding gene	Chr10:59369409-59510132 (-)
AKR/J	MGP_AKRJ_G0017227	protein coding gene	Chr10:60919858-61062367 (-)
BALB/cJ	MGP_BALBcJ_G0017227	protein coding gene	Chr10:59444546-59586587 (-)
C3H/HeJ	MGP_C3HHeJ_G0017050	protein coding gene	Chr10:60821348-60969044 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0017685	protein coding gene	Chr10:63416600-63564606 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015376	protein coding gene	Chr10:56341957-56483966 (-)
CAST/EiJ	MGP_CASTEiJ_G0016621	protein coding gene	Chr10:60845960-60992552 (-)
CBA/J	MGP_CBAJ_G0017022	protein coding gene	Chr10:65783292-65936866 (-)
DBA/2J	MGP_DBA2J_G0017127	protein coding gene	Chr10:58642037-58783562 (-)
FVB/NJ	MGP_FVBNJ_G0017121	protein coding gene	Chr10:57891911-58039570 (-)
LP/J	MGP_LPJ_G0017202	protein coding gene	Chr10:61608438-61758208 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017149	protein coding gene	Chr10:68058493-68204877 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017723	protein coding gene	Chr10:60744660-60887782 (-)
PWK/PhJ	MGP_PWKPhJ_G0016404	protein coding gene	Chr10:58496099-58639357 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0016187	protein coding gene	Chr10:60118178-60266309 (-)
WSB/EiJ	MGP_WSBEiJ_G0016685	protein coding gene	Chr10:60663506-60812172 (-)

Human Ortholog

COL13A1, collagen type XIII alpha 1 chain

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

COL13A1, collagen type XIII alpha 1 chain
Synonyms

CMS19, COLXIIIA1
Links

HGNC:2190

NCBI Gene ID: 1305

neXtProt AC: NX_Q5TAT6

UniProt: Q5TAT6
Chr Location

10q22.1; chr10:69801880-69964275 (+) GRCh38

MGI Vertebrate Homology

Col13a1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: COL13A1
Gene Tree

Col13a1

Diseases

1 with Col13a1 mouse models; 1 with human COL13A1 associations

Human Disease

Mouse Models

congenital myasthenic syndrome 19

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

30 phenotypes from 4 alleles in 5 genetic backgrounds
26 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

34
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

22
Radiation induced

1
Targeted

7
Transgenic

1
Genomic Mutations

2 involving Col13a1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

70 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for an allele lacking the transmembrane exhibit small muscle fibers and are susceptible to excerise-induced muscle damage and muscle inflammation. Mice homozygous for a knock-out allele exhibit tremors and abnormal neuromuscular junction morphology and endplate potential.

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All GO Annotations

24
GO References

7

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

989
Tissues

65
cDNA Data

13
Literature Summary

14

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA COL13A1

Xenbase col13a1

ZFIN col13a1

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All Sequences

129
RefSeq

56
UniProt

7
CCDS

CCDS35918.1, CCDS78821.1

Ensembl

ENSMUSG00000058806 (Evidence)
NCBI Gene

12817

			Length	Strain/Species	Flank
genomic	ENSMUSG00000058806	Ensembl Gene Model \| MGI Sequence Detail	140873	C57BL/6J	± kb
transcript	ENSMUST00000105454	Ensembl \| MGI Sequence Detail	3162	Not Applicable
polypeptide	ENSMUSP00000101094	Ensembl \| MGI Sequence Detail	739	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000005697 collagen alpha-1(XIII) chain

(term hierarchy)
InterPro Domains

IPR050938 Collagen and Collagen-like Structural Proteins

IPR008160 Collagen triple helix repeat
GlyGen

Q9R1N9 1 site, 1 N-linked glycan (1 site)

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All nucleic 19

Genomic 3

cDNA 13

Primer pair 3

Microarray probesets 4

Summaries

All 69

Developmental Gene Expression 14

Diseases 1

Gene Ontology 7

Phenotypes 26
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

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

TSS for Col13a1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr97784	Chr10:61814923-61814940 (-)	-45 bp
Tssr97783	Chr10:61814892-61814915 (-)	-17 bp
Tssr97782	Chr10:61814855-61814887 (-)	16 bp
Tssr3219	Chr10:61717734-61717735 (-)	97,152 bp
Tssr97781	Chr10:61710644-61710658 (-)	104,236 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 12/10/2024 MGI 6.24