Ism1 - SNV Details



 Gene Information 
Gene Name Ism1
Old Gene Names for Ism1 Av354986 , 5430433g21rik
Gene Description isthmin 1 homolog (zebrafish) [Source:MGI Symbol;Acc:MGI:2442963]
Uniprot Name
CCDS Name
Gene GO
extracellular region
Homolog in other species ISM1
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 ENSMUSG00000074766
Chromosome 2
Coordinate 139,757,201     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 11
Allele Frequency
T:R0.45
C:V0.55
Amino Acid Change C->R (Cysteine -> Arginine)
Sample ID IGL02496
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 71 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability