Myo5a MGI Mouse Gene Detail - MGI:105976

Symbol

Myo5a
Name

myosin VA
Synonyms

9630007J19Rik, Dbv, flail, MVa, Myo5, MyoVA, nmf244

Feature Type

protein coding gene
IDs

MGI:105976
NCBI Gene: 17918
Alliance

gene page
Transcription Start Sites

25 TSS

Sequence Map

Chr9:74978297-75130970 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 42.26 cM
Mapping Data

155 experiments

SNPs within 2kb

3718 from dbSNP Build 142
Strain Annotations

18
RFLP

17

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_105976	protein coding gene	Chr9:74975183-75130970 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035034	protein coding gene	Chr9:75352285-75514300 (+)
A/J	MGP_AJ_G0035015	protein coding gene	Chr9:72718086-72874774 (+)
AKR/J	MGP_AKRJ_G0034944	protein coding gene	Chr9:74463764-74624834 (+)
BALB/cJ	MGP_BALBcJ_G0035007	protein coding gene	Chr9:72405656-72559973 (+)
C3H/HeJ	MGP_C3HHeJ_G0034716	protein coding gene	Chr9:74933808-75093641 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0035526	protein coding gene	Chr9:77371278-77531506 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032437	protein coding gene	Chr9:72090849-72245153 (+)
CAST/EiJ	MGP_CASTEiJ_G0034038	protein coding gene	Chr9:75269218-75433380 (+)
CBA/J	MGP_CBAJ_G0034689	protein coding gene	Chr9:80013385-80180121 (+)
DBA/2J	MGP_DBA2J_G0034848	protein coding gene	Chr9:72393895-72557224 (+)
FVB/NJ	MGP_FVBNJ_G0034790	protein coding gene	Chr9:71707111-71858968 (+)
LP/J	MGP_LPJ_G0034929	protein coding gene	Chr9:75606787-75767690 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034831	protein coding gene	Chr9:81114862-81282418 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035548	protein coding gene	Chr9:74629521-74781500 (+)
PWK/PhJ	MGP_PWKPhJ_G0033742	protein coding gene	Chr9:72678703-72837260 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0033575	protein coding gene	Chr9:74843711-75009796 (+)
WSB/EiJ	MGP_WSBEiJ_G0034150	protein coding gene	Chr9:74539624-74700224 (+)

Human Ortholog

MYO5A, myosin VA

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MYO5A, myosin VA
Synonyms

GS1, MYH12, MYO5, MYR12
Links

HGNC:7602

NCBI Gene ID: 4644

UniProt: Q9Y4I1
Chr Location

15q21.2; chr15:52307281-52529132 (-) GRCh38

MGI Vertebrate Homology

Myo5a stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: MYO5A
Gene Tree

Myo5a

Diseases

1 with Myo5a mouse models; 1 with human MYO5A associations

Human Disease

Mouse Models

Griscelli syndrome type 1

IDs

View 2 models

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

Mutations/Alleles

3 with disease annotations

References

3 with disease annotations

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Phenotype Summary

49 phenotypes from 54 alleles in 30 genetic backgrounds
27 phenotypes from multigenic genotypes
5 images
107 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

115
Chemically and radiation induced

1
Chemically induced (ENU)

36
Chemically induced (other)

3
Endonuclease-mediated

2
Gene trapped

3
Radiation induced

11
Spontaneous

55
Targeted

4
Genomic Mutations

1 involving Myo5a
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

264 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mutations in this gene result in diluted coat color, behavioral deficits including opisthotonus, and postnatal or premature death.

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All GO Annotations

172
GO References

55

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

822
Tissues

45
cDNA Data

21
Literature Summary

12

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA MYO5A

Xenbase myo5a

ZFIN myo5aa, myo5ab

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All Sequences

81
RefSeq

20
UniProt

7
CCDS

CCDS52860.1

Ensembl

ENSMUSG00000034593 (Evidence)
NCBI Gene

17918

			Length	Strain/Species	Flank
genomic	ENSMUSG00000034593	Ensembl Gene Model \| MGI Sequence Detail	152674	C57BL/6J	± kb
transcript	ENSMUST00000155282	Ensembl \| MGI Sequence Detail	6372	Not Applicable
polypeptide	ENSMUSP00000117493	Ensembl \| MGI Sequence Detail	1855	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000010865 myosin-Va

(term hierarchy)
PDB

2IX7, 3WB8, 4KP3, 4ZLK, 6KU0, 7YV9, 8OF8, 8R9V, 8RBF, 8RBG
InterPro Domains

IPR036103 Class V myosin, motor domain

IPR002710 Dilute domain

IPR000048 IQ motif, EF-hand binding site

IPR036961 Kinesin motor domain superfamily

IPR037988 Myosin 5a, cargo-binding domain

IPR001609 Myosin head, motor domain

IPR004009 Myosin, N-terminal, SH3-like

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR052072 Vascular development regulator domain-containing protein
GlyGen

Q99104 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 47

Genomic 19

cDNA 25

Primer pair 1

Other 2

Microarray probesets 7

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MGD-MRK-14365, MGD-MRK-2338, MGD-MRK-28030, MGD-MRK-33656, MGD-MRK-8805, MGI:1096356, MGI:1343057, MGI:2143030, MGI:2143108

Summaries

All 313

Developmental Gene Expression 12

Diseases 3

Gene Ontology 55

Phenotypes 107
Earliest

J:28864 Gates WH, Linkage of Short Ear and Density in the House Mouse. Proc Natl Acad Sci U S A. 1927 Aug;13(8):575-8
Latest

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

TSS for Myo5a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr86131	Chr9:74978430-74978510 (+)	173 bp
Tssr86132	Chr9:74978558-74978603 (+)	284 bp
Tssr86133	Chr9:74978679-74978700 (+)	393 bp
Tssr86134	Chr9:74978809-74978851 (+)	533 bp
Tssr86135	Chr9:74978861-74978866 (+)	567 bp
Tssr86136	Chr9:74988419-74988421 (+)	10,123 bp
Tssr86137	Chr9:75041435-75041475 (+)	63,158 bp
Tssr86138	Chr9:75073594-75073633 (+)	95,317 bp
Tssr86139	Chr9:75074507-75074520 (+)	96,217 bp
Tssr86140	Chr9:75081275-75081286 (+)	102,984 bp
Tssr86141	Chr9:75081343-75081354 (+)	103,052 bp
Tssr86142	Chr9:75081361-75081378 (+)	103,073 bp
Tssr86143	Chr9:75084954-75084974 (+)	106,667 bp
Tssr86144	Chr9:75091458-75091478 (+)	113,171 bp
Tssr86145	Chr9:75091556-75091567 (+)	113,265 bp
Tssr86146	Chr9:75091629-75091684 (+)	113,360 bp
Tssr86147	Chr9:75093320-75093336 (+)	115,031 bp
Tssr86148	Chr9:75093339-75093355 (+)	115,050 bp
Tssr86149	Chr9:75097517-75097530 (+)	119,227 bp
Tssr86150	Chr9:75100579-75100593 (+)	122,289 bp
Tssr86151	Chr9:75100668-75100686 (+)	122,380 bp
Tssr86152	Chr9:75118912-75118916 (+)	140,617 bp
Tssr2941	Chr9:75124720-75124734 (+)	146,430 bp
Tssr86153	Chr9:75124752-75124765 (+)	146,462 bp
Tssr86154	Chr9:75128308-75128341 (+)	150,028 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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