Musk MGI Mouse Gene Detail - MGI:103581 - muscle, skeletal, receptor tyrosine kinase

Symbol

Musk
Name

muscle, skeletal, receptor tyrosine kinase
Synonyms

MDK4, Nsk1, Nsk2, Nsk3

Feature Type

protein coding gene
IDs

MGI:103581
NCBI Gene: 18198
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr4:58285962-58374303 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 31.87 cM
Mapping Data

5 experiments

SNPs within 2kb

2812 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_103581	protein coding gene	Chr4:58285742-58377848 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028324	protein coding gene	Chr4:57117671-57215521 (+)
A/J	MGP_AJ_G0028285	protein coding gene	Chr4:54943384-55032209 (+)
AKR/J	MGP_AKRJ_G0028234	protein coding gene	Chr4:56465374-56558278 (+)
BALB/cJ	MGP_BALBcJ_G0028304	protein coding gene	Chr4:55097746-55192204 (+)
C3H/HeJ	MGP_C3HHeJ_G0028025	protein coding gene	Chr4:56958774-57050213 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0028745	protein coding gene	Chr4:59138839-59231137 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026051	protein coding gene	Chr4:51705800-51791796 (+)
CAST/EiJ	MGP_CASTEiJ_G0027463	protein coding gene	Chr4:56686080-56819591 (+)
CBA/J	MGP_CBAJ_G0027990	protein coding gene	Chr4:61153749-61251149 (+)
DBA/2J	MGP_DBA2J_G0028140	protein coding gene	Chr4:54837932-54925691 (+)
FVB/NJ	MGP_FVBNJ_G0028107	protein coding gene	Chr4:54061030-54153889 (+)
LP/J	MGP_LPJ_G0028239	protein coding gene	Chr4:57227842-57318578 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028131	protein coding gene	Chr4:64280643-64380113 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028781	protein coding gene	Chr4:56662263-56759486 (+)
PWK/PhJ	MGP_PWKPhJ_G0027188	protein coding gene	Chr4:54830915-54944220 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027016	protein coding gene	Chr4:55950002-56045853 (+)
WSB/EiJ	MGP_WSBEiJ_G0027541	protein coding gene	Chr4:56616947-56710552 (+)

Human Ortholog

MUSK, muscle associated receptor tyrosine kinase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MUSK, muscle associated receptor tyrosine kinase
Synonyms

CMS9, FADS, FADS1
Links

HGNC:7525

NCBI Gene ID: 4593

neXtProt AC: NX_O15146

UniProt: O15146
Chr Location

9q31.3; chr9:110668779-110806558 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: MUSK
Protein SuperFamily

TyrPK_CSF1-R
Gene Tree

Musk

Diseases

1 with Musk mouse models; 2 with human MUSK associations

Human Disease

Mouse Models

congenital myasthenic syndrome 9

IDs

View 3 models

fetal akinesia deformation sequence syndrome 1

IDs

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

Mutations/Alleles

3 with disease annotations

References

2 with disease annotations

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Phenotype Summary

37 phenotypes from 5 alleles in 5 genetic backgrounds
27 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

10
Endonuclease-mediated

3
Spontaneous

1
Targeted

6
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

42 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a targeted null mutation lack neuromuscular synapses and spontaneous movement, and die at birth of respiratory failure.

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All GO Annotations

77
GO References

31

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	non-membrane-bounded 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

938
Tissues

75
cDNA Data

17
Literature Summary

39

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase musk

ZFIN musk

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All Sequences

63
RefSeq

16
UniProt

8
CCDS

CCDS18210.1, CCDS18211.1, CCDS38770.1, CCDS51182.1

Ensembl

ENSMUSG00000057280 (Evidence)
NCBI Gene

18198

			Length	Strain/Species	Flank
genomic	ENSMUSG00000057280	Ensembl Gene Model \| MGI Sequence Detail	88342	C57BL/6J	± kb
transcript	ENSMUST00000177951	Ensembl \| MGI Sequence Detail	3352	Not Applicable
polypeptide	ENSMUSP00000136696	Ensembl \| MGI Sequence Detail	870	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000010780 muscle, skeletal receptor tyrosine-protein kinase

(term hierarchy)
PDB

3ML4
EC

2.7.10.1
InterPro Domains

IPR050958 Cell Adhesion and Cytoskeletal Organization

IPR036790 Frizzled cysteine-rich domain superfamily

IPR020067 Frizzled domain

IPR013098 Immunoglobulin I-set

IPR007110 Immunoglobulin-like domain

IPR036179 Immunoglobulin-like domain superfamily

IPR013783 Immunoglobulin-like fold

IPR003599 Immunoglobulin subtype

IPR003598 Immunoglobulin subtype 2

IPR017441 Protein kinase, ATP binding site

IPR000719 Protein kinase domain

IPR011009 Protein kinase-like domain superfamily

IPR050122 Receptor Tyrosine Kinase

IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domain

IPR008266 Tyrosine-protein kinase, active site

IPR020635 Tyrosine-protein kinase, catalytic domain
GlyGen

Q61006 3 sites

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All nucleic 25

Genomic 4

cDNA 18

Primer pair 1

Other 2

Microarray probesets 3

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MGD-MRK-24192, MGD-MRK-24466, MGD-MRK-38403, MGI:103308, MGI:109358

Summaries

All 121

Developmental Gene Expression 39

Diseases 2

Gene Ontology 31

Phenotypes 27
Earliest

J:27415 Ganju P, et al., Cloning and developmental expression of Nsk2, a novel receptor tyrosine kinase implicated in skeletal myogenesis. Oncogene. 1995 Jul 20;11(2):281-90
Latest

J:353626 Ohkawara B, et al., Transcriptome profile of subsynaptic myonuclei at the neuromuscular junction in embryogenesis. J Neurochem. 2024 Apr;168(4):342-354

TSS for Musk:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr37398	Chr4:58285930-58285975 (+)	-9 bp
Tssr37399	Chr4:58286064-58286068 (+)	104 bp
Tssr1185	Chr4:58289129-58289138 (+)	3,172 bp
Tssr37400	Chr4:58327268-58327279 (+)	41,312 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 10/29/2024 MGI 6.24