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 14,131,878     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 59
Allele Frequency
T:R0.39
A:V0.61
Amino Acid Change S->T (Serine -> Threonine)
Sample ID IGL02539
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 0.28
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved