Hsh2d - SNV Details



 Gene Information 
Gene Name Hsh2d
Old Gene Names for Hsh2d Hsh2
Gene Description hematopoietic SH2 domain containing [Source:MGI Symbol;Acc:MGI:2676364]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; SH3/SH2 adaptor activity; protein binding; cytosol; negative regulation of B cell apoptotic process; negative regulation of mitochondrial depolarization; T cell activation
Homolog in other species HSH2D
Immgen Expression
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
MEDIAN(HIGH IN IMM.G1, IMM.G3)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000062007
Chromosome 8
Coordinate 72,193,531     (Assembly: GRCm38)    
Ref Base A
Codon Change gAc/gTc
Var Base T
Zygosity Heterozygous
Read Depth 69
Allele Frequency
A:R0.52
T:V0.45
Amino Acid Position 24
Amino Acid Change D->V (Aspartic acid -> Valine)
Sample ID IGL01134
Median Base Quality 33
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.51
Polyphen Prediction Possibly damaging
Sift Score 0.05
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved