Hivep2 - SNV Details



 Gene Information 
Gene Name Hivep2
Gene Description human immunodeficiency virus type I enhancer binding protein 2 [Source:MGI Symbol;Acc:MGI:1338076]
MGI phenotype Mice homozygous for a knock-out allele display abnormal thymus anatomy, severely defective positive selection of CD4+ and CD8+ cells, and enhanced T-helper 2 cell differentiation.
Uniprot Name
CCDS Name
Gene GO
transcription
DNA-dependent; signal transduction; metal ion binding; intracellular; zinc ion binding; DNA binding; sequence-specific DNA binding transcription factor activity; transcription factor complex
Homolog in other species HIVEP2
Omim http://omim.org/entry/143054
Immgen Expression
MEDIAN(HIGH IN BCELL GROUP, TGD GROUP, ABT GROUP, TACTIVATION GROUP, NK GROUP, DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000015501
Chromosome 10
Coordinate 14,149,237     (Assembly: GRCm38)    
Ref Base G
Codon Change cGg/cAg
Var Base A
Zygosity Heterozygous
Read Depth 34
Allele Frequency
G:R0.56
A:V0.44
Amino Acid Position 2265
Amino Acid Change R->Q (Arginine -> Glutamine)
Sample ID IGL01481
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.72
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved