Vwa5a MGI Mouse Gene Detail - MGI:1915026 - von Willebrand factor A domain containing 5A

Symbol

Vwa5a
Name

von Willebrand factor A domain containing 5A
Synonyms

5830475I06Rik, BCSC-1, Loh11cr2a

Feature Type

protein coding gene
IDs

MGI:1915026
NCBI Gene: 67776
Alliance

genome feature page
Transcription Start Sites

8 TSS

Sequence Map

Chr9:38629564-38654633 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 20.89 cM, cytoband B
Mapping Data

3 experiments

SNPs within 2kb

806 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1915026	protein coding gene	Chr9:38629564-38654633 (+)
129S1/SvImJ	ENSMUSG00200039278	protein coding gene	Chr9:35664300-35685272 (+)
A/J	ENSMUSG00195046218	protein coding gene	Chr9:35446890-35467863 (+)
AKR/J	ENSMUSG00220040386	protein coding gene	Chr9:35542177-35562625 (+)
BALB/cJ	ENSMUSG00180043911	protein coding gene	Chr9:35574976-35595948 (+)
C3H/HeJ	ENSMUSG00175042133	protein coding gene	Chr9:35576172-35597148 (+)
C57BL/6NJ	ENSMUSG00215018258	protein coding gene	Chr9:35541529-35562501 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032026	protein coding gene	Chr9:34967311-34992655 (+)
CAST/EiJ	ENSTCUG00005041215	protein coding gene	Chr9:35498012-35518624 (+)
CBA/J	ENSMUSG00210041504	protein coding gene	Chr9:35606130-35627229 (+)
DBA/2J	ENSMUSG00185037124	protein coding gene	Chr9:35680077-35700527 (+)
FVB/NJ	ENSMUSG00205022575	protein coding gene	Chr9:35923044-35943503 (+)
JF1/MsJ	ENSUMUG00000026310	protein coding gene	Chr9:35757929-35777509 (+)
LP/J	ENSMUSG00230033042	protein coding gene	Chr9:35984132-36005100 (+)
NOD/ShiLtJ	ENSMUSG00190025034	protein coding gene	Chr9:35738709-35759685 (+)
NZO/HlLtJ	ENSMUSG00225019786	protein coding gene	Chr9:35952487-35973447 (+)
PWK/PhJ	ENSLUMG00010045381	protein coding gene	Chr9:35695271-35716327 (+)
SPRET/EiJ	ENSMSPG00010026733	protein coding gene	Chr9:36352188-36376892 (+)
WSB/EiJ	ENSIUOG00005037130	protein coding gene	Chr9:35223657-35244585 (+)

Human Ortholog

VWA5A, von Willebrand factor A domain containing 5A

Vertebrate Orthologs

5

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

VWA5A, von Willebrand factor A domain containing 5A
Synonyms

BCSC-1, BCSC1, LOH11CR2A
Links

HGNC:6658

NCBI Gene ID: 4013

UniProt: O00534
Chr Location

11q24.2; chr11:124115404-124147721 (+) GRCh38

MGI Vertebrate Homology

Vwa5a stringent orthology
1 human;1 mouse;1 rat;3 zebrafish
HCOP

vertebrate homology predictions: VWA5A
Gene Tree

Vwa5a

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Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
9 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

7
Endonuclease-mediated

5
Targeted

2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

43 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

4
GO References

4

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

No experimental evidence to support Biological Process annotation, following literature review. See J:73796.

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

597
cDNA Data

77

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase vwa5a, vwa5a.2

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All Sequences

57
RefSeq

4
UniProt

3
CCDS

CCDS23024.1

Ensembl

ENSMUSG00000023186 (Evidence)
NCBI Gene

67776

			Length	Strain/Species	Flank
genomic	67776	NCBI Gene Model \| MGI Sequence Detail	25070	C57BL/6J	± kb
transcript	NM_172767	RefSeq \| MGI Sequence Detail	4157	C57BL/6
polypeptide	Q99KC8	UniProt \| EBI \| MGI Sequence Detail	793	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000009877 loss of heterozygosity 11 chromosomal region 2 gene A protein

(term hierarchy)
InterPro Domains

IPR013694 VIT domain

IPR036465 von Willebrand factor A-like domain superfamily

IPR002035 von Willebrand factor, type A
GlyGen

Q99KC8 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 77

cDNA 77

Microarray probesets 5

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MGI:2143323

Summaries

All 40

Gene Ontology 4

Phenotypes 9
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:367686 Briere A, et al., Systematic Ocular Phenotyping of Knockout Mouse Lines Identifies Genes Associated With Age-Related Corneal Dystrophies. Invest Ophthalmol Vis Sci. 2025 May 1;66(5):7

TSS for Vwa5a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr84417	Chr9:38629559-38629573 (+)	2 bp
Tssr84418	Chr9:38629577-38629622 (+)	36 bp
Tssr84419	Chr9:38629624-38629637 (+)	67 bp
Tssr84420	Chr9:38630320-38630351 (+)	772 bp
Tssr84421	Chr9:38641998-38642000 (+)	12,435 bp
Tssr84422	Chr9:38642297-38642311 (+)	12,740 bp
Tssr84423	Chr9:38642486-38642544 (+)	12,951 bp
Tssr84424	Chr9:38653765-38653769 (+)	24,203 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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