Mstn - SNV Details



 Human Rare Diseases 
Myostatin-related muscle hypertrophy

 Gene Information 
Gene Name Mstn
Old Gene Names for Mstn Gdf8
Gene Description myostatin [Source:MGI Symbol;Acc:MGI:95691]
MGI phenotype Homozygotes for targeted and spontaneous mutations exhibit markedly increased size of striated muscle due to both hyperplasia and hypertrophy, reduced adiposity, and increased bone mineral density.
Uniprot Name
CCDS Name
Gene GO
response to estrogen stimulus; response to gravity; response to testosterone stimulus; cytoplasm; response to electrical stimulus; growth; response to glucocorticoid stimulus; protein binding; transforming growth factor beta receptor signaling pathway; positive regulation of transcription
DNA-dependent; cytokine activity; response to muscle activity; heparin binding; response to ethanol; negative regulation of muscle hypertrophy; receptor binding; growth factor activity; skeletal muscle tissue regeneration; extracellular space; skeletal muscle atrophy; negative regulation of skeletal muscle tissue growth; response to heat; ovulation cycle process
Homolog in other species MSTN
Omim http://omim.org/entry/601788
Immgen Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000026100
Chromosome 1
Coordinate 53,062,150     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 33
Allele Frequency
A:R0.39
G:V0.61
Amino Acid Change Disrupted splicing
Splice Position 9
Sample ID IGL02009
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved