Svil - SNV Details



 Gene Information 
Gene Name Svil
Old Gene Names for Svil B430302e16rik , Au024053
Gene Description supervillin [Source:MGI Symbol;Acc:MGI:2147319]
Uniprot Name
CCDS Name
Gene GO
invadopodium; cytoskeleton organization; cytoplasm; costamere; podosome; cell junction; nucleus; skeletal muscle tissue development; actin cytoskeleton; actin filament binding; plasma membrane; actin binding
Homolog in other species SVIL
Omim http://omim.org/entry/604126
Immgen Expression
MEDIAN(HIGH IN GN.BM)
Gnf Expression
HIGH(HIGHER IN IMM GROUPS, OESTEO GROUP, EPITH GROUP, BLADDER, UTERUS, OVARY, LUNG, TRACHEA AND ADIPOSETISSUE, PROSTATE, UMBLICALCORD)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024236
Chromosome 18
Coordinate 5,049,379     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 20
Allele Frequency
A:R0.30
G:V0.70
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL02560
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved