Hivep1 - SNV Details



 Gene Information 
Gene Name Hivep1
Old Gene Names for Hivep1 Cryabp1
Gene Description human immunodeficiency virus type I enhancer binding protein 1 [Source:MGI Symbol;Acc:MGI:96100]
Uniprot Name
CCDS Name
Gene GO
intracellular
nucleic acid binding
protein binding
zinc ion binding
Homolog in other species HIVEP1
Omim http://omim.org/entry/194540
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000021366
Chromosome 13
Coordinate 42,183,818     (Assembly: GRCm38)    
Ref Base A
Codon Change Ata/Tta
Var Base T
Zygosity Heterozygous
Read Depth 12
Allele Frequency
A:0.50
T:0.42
Amino Acid Position 2458
Amino Acid Change I->L (Isoleucine -> Leucine)
Sample ID IGL00820
Median Base Quality 38.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 25 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.52
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved