Phip - SNV Details



 Gene Information 
Gene Name Phip
Old Gene Names for Phip Ndrp , 2810004d21rik , 4632404o06rik , Wdr11
Gene Description pleckstrin homology domain interacting protein [Source:MGI Symbol;Acc:MGI:1932404]
MGI phenotype Mice homozygous for a gene trapped allele exhibit postnatal and premature lethality associated with reduced body size, small myocardial cells and hepatocytes, hypoglycemia, increased insulin sensitivity, and reduced cell growth.
Uniprot Name
CCDS Name
Gene GO
cytoskeleton organization; positive regulation of transcription from RNA polymerase II promoter; negative regulation of apoptotic process; positive regulation of peptidyl-threonine phosphorylation; histone acetyl-lysine binding; insulin receptor signaling pathway; protein import into nucleus; positive regulation of peptidyl-serine phosphorylation; protein binding; nucleus; regulation of growth; regulation of cell morphogenesis; positive regulation of cell proliferation
Homolog in other species PHIP
Omim http://omim.org/entry/612870
Immgen Expression
HIGH
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
HIGH(LOWER IN FERTILIZEDEGG, PANCREAS, BROWNFAT, THYROID)
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032253
Chromosome 9
Coordinate 82,893,370     (Assembly: GRCm38)    
Ref Base A
Codon Change gTc/gAc
Var Base T
Zygosity Heterozygous
Read Depth 44
Allele Frequency
A:R0.57
T:V0.43
Amino Acid Position 1053
Amino Acid Change V->D (Valine -> Aspartic acid)
Sample ID IGL02121
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 66 Other Mutations

 Predictions 
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved