Synm - SNV Details



 Gene Information 
Gene Name Synm
Old Gene Names for Synm 4930412k21rik , Ai852401 , Dmn
Gene Description synemin, intermediate filament protein [Source:MGI Symbol;Acc:MGI:2661187]
Uniprot Name
CCDS Name
Gene GO
membrane; intermediate filament; costamere; adherens junction; protein binding; vinculin binding; intermediate filament binding; structural molecule activity; structural constituent of cytoskeleton; biological_process; structural constituent of muscle; neurofilament cytoskeleton
Homolog in other species SYNM
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030554
Chromosome 7
Coordinate 67,734,915     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 227
Allele Frequency
T:R0.50
C:V0.50
Amino Acid Change M->V (Methionine -> Valine)
Sample ID IGL00161
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved