Hivep3 - SNV Details



 Gene Information 
Gene Name Hivep3
Old Gene Names for Hivep3 E030045d18rik , 2900056n03rik , Ai848000 , Krc
Gene Description human immunodeficiency virus type I enhancer binding protein 3 [Source:MGI Symbol;Acc:MGI:106589]
MGI phenotype Homozygous mutation of this gene results in diminished IL-2 production by stimulated CD4 cells.
Uniprot Name
CCDS Name
Gene GO
transcription
DNA-dependent; cytoplasm; intracellular; zinc ion binding; DNA binding; nucleus; positive regulation of transcription
DNA-dependent
Homolog in other species HIVEP3
Omim http://omim.org/entry/606649
Immgen Expression
MEDIAN(HIGHER IN PROB.FRBC.FL, PREB.FRD.FL, T.DPSM.TH, TGD.TH)
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW
MEDIAN
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028634
Chromosome 4
Coordinate 120,095,227     (Assembly: GRCm38)    
Ref Base T
Codon Change Tcc/Ccc
Var Base C
Zygosity Heterozygous
Read Depth 27
Allele Frequency
T:R0.52
C:V0.48
Amino Acid Position 247
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL01878
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 0.06
Polyphen Prediction Benign
Sift Score 0.05
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved