Ehbp1 - SNV Details



 Gene Information 
Gene Name Ehbp1
Gene Description EH domain binding protein 1 [Source:MGI Symbol;Acc:MGI:2667252]
Uniprot Name
CCDS Name
Gene GO
membrane; cytoplasm; protein binding; biological_process
Homolog in other species EHBP1
Omim http://omim.org/entry/609922
Immgen Expression
MEDIAN(LOW IN GN.BM)
Gnf Expression
MEDIAN(HIGH IN NS GROUP, IMM.G1, IMM.G3, OSTEO GROUP, EPITH GROUP, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000042302
Chromosome 11
Coordinate 22,095,611     (Assembly: GRCm38)    
Ref Base C
Codon Change Gac/Tac
Var Base A
Zygosity Heterozygous
Read Depth 43
Allele Frequency
C:R0.58
A:V0.42
Amino Acid Position 688
Amino Acid Change D->Y (Aspartic acid -> Tyrosine)
Sample ID IGL01590
Median Base Quality 39
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.58
Polyphen Prediction Possibly damaging
Sift Score 0.05
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved