Hip1r - SNV Details



 Gene Information 
Gene Name Hip1r
Old Gene Names for Hip1r Aa410023
Gene Description huntingtin interacting protein 1 related [Source:MGI Symbol;Acc:MGI:1352504]
MGI phenotype Mice homozygous for disruptions in this gene display no abnormal phenotype.
Uniprot Name
CCDS Name
Gene GO
clathrin-coated vesicle membrane; perinuclear region of cytoplasm; membrane; cytoplasm; coated pit; intracellular membrane-bounded organelle; protein binding; cytoskeleton; phosphatidylinositol binding; clathrin-coated vesicle; receptor-mediated endocytosis; actin binding; phospholipid binding
Homolog in other species HIP1R
Omim http://omim.org/entry/605613
Immgen Expression
MEDIAN(HIGHER IN BCELL GROUP)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000000915
Chromosome 5
Coordinate 124,000,167     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 15
Allele Frequency
C:R0.60
T:V0.40
Amino Acid Change R->W (Arginine -> Tryptophan)
Sample ID IGL03365
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability