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Musk
Gene Detail
Symbol

Name
ID
Musk
muscle, skeletal, receptor tyrosine kinase
MGI:103581
Synonyms
MDK4, Nsk1, Nsk2, Nsk3
Feature Type
protein coding gene
Genetic Map
Chromosome 4
31.87 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr4:58285962-58374303 bp, + strand
From VEGA annotation of GRCm38

  88342 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4084  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: MUSK
Protein SuperFamily: muscle skeletal receptor tyrosine protein kinase
Gene Tree: Musk

Human
homologs
MUSK, muscle, skeletal, receptor tyrosine kinase
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4593
neXtProt AC: NX_O15146

Human Synonyms: CMS9

Human Chr (Location): 9q31.3-q32; chr9:110668545-110806542 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human MUSK

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes for a targeted null mutation lack neuromuscular synapses and spontaneous movement, and die at birth of respiratory failure.
 
Human Diseases Modeled in Mice Using Musk (1)    Mutations Annotated to Human Diseases (3)   
Interactions
Musk interacts with 141 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (64 annotations)
Process cell differentiation, long-term synaptic potentiation, ...
Component cell junction, cell projection, ...
Function ATP binding, kinase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (28 records)
Data Summary: Results (176)    Tissues (48)    Images (24)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 3
RNA in situ 160
Northern blot 13
cDNA source data(16)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase musk ; ZFIN musk    NEW 
Molecular
reagents
All nucleic(21) Genomic(4) cDNA(17)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000007438 (Evidence)
Ensembl Gene Model ENSMUSG00000057280 (Evidence)
Entrez Gene 18198 (Evidence)
UniGene 16148
DFCI TC1596327, TC1594798, TC1592529, TC1588133, TC1596406
DoTS DT.97407415, DT.91398545, DT.482041, DT.110792692, DT.110792688, DT.110792686
NIA Mouse Gene Index U004368
EC 2.7.10.1
PDB 3ML4
Consensus CDS Project CCDS18210.1, CCDS18211.1, CCDS38770.1, CCDS51182.1
International Mouse Phenotyping Consortium Status Musk
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000007438 VEGA Gene Model | MGI Sequence Detail 88342 C57BL/6J ±  kb
transcript OTTMUST00000017196 VEGA | MGI Sequence Detail 3347 Not Applicable 
polypeptide OTTMUSP00000007948 VEGA | MGI Sequence Detail 868 Not Applicable 

For the selected sequences
All sequences(77) RefSeq(18) UniProt(12)
Polymorphisms
RFLP(2) : SNPs within 2kb(907 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR020067 Frizzled domain
InterPro IPR013098 Immunoglobulin I-set
InterPro IPR007110 Immunoglobulin-like domain
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR003598 Immunoglobulin subtype 2
InterPro IPR017441 Protein kinase, ATP binding site
InterPro IPR000719 Protein kinase, catalytic domain
InterPro IPR011009 Protein kinase-like domain
InterPro IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
InterPro IPR008266 Tyrosine-protein kinase, active site
InterPro IPR020635 Tyrosine-protein kinase, catalytic domain
Protein Ontology PR:000010780 muscle, skeletal receptor tyrosine-protein kinase
References
(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:221340 Messeant J, et al., MuSK frizzled-like domain is critical for mammalian neuromuscular junction formation and maintenance. J Neurosci. 2015 Mar 25;35(12):4926-41
All references(91)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-24192, MGD-MRK-24466, MGD-MRK-38403, MGI:103308, MGI:109358

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory