Hipk1,Gm10964 - SNV Details



 Gene Information 
Gene Name Hipk1 , Gm10964
Old Gene Names for Hipk1 1110062k04rik
Old Gene Names for Gm10964 Ensmusg00000078620
Gene Description predicted gene 10964 [Source:MGI Symbol;Acc:MGI:3779175],homeodomain interacting protein kinase 1 [Source:MGI Symbol;Acc:MGI:1314873]
MGI phenotype NO_PHENOTYPE,Homozygous null mice are viable and fertile, do not develop spontaneous tumors, and are resistant to DMBA-induced skin tumor formation.
Uniprot Name
CCDS Name
Gene GO
embryonic retina morphogenesis in camera-type eye; protein kinase activity; transcription
DNA-dependent; membrane; anterior/posterior pattern specification; apoptotic process; lens induction in camera-type eye; cytoplasm; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; positive regulation of DNA binding; transcription corepressor activity; transferase activity
transferring phosphorus-containing groups; regulation of tumor necrosis factor-mediated signaling pathway; protein binding; nuclear speck; PML body; nucleus; iris morphogenesis; phosphotransferase activity
alcohol group as acceptor; embryonic camera-type eye morphogenesis; protein phosphorylation; negative regulation of transcription from RNA polymerase II promoter; protein tyrosine kinase activity; retina layer formation; ATP binding; neuron differentiation; smoothened signaling pathway; positive regulation of cell proliferation; protein serine/threonine kinase activity; lipopolysaccharide biosynthetic process
cellular_component; biological_process; molecular_function
Homolog in other species HIPK1,NO_HOMOLOG
Immgen Expression
HIGH,NO_IMMGEN
Gnf Expression
HIGH(LOWER IN FERTILIZEDEGG, PANCREAS, BROWNFAT, THYROID),NO_GNF
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000078620
Chromosome 3
Coordinate 103,744,004     (Assembly: GRCm38)    
Ref Base T
Codon Change Att/Gtt
Var Base C
Zygosity Heterozygous
Read Depth 12
Allele Frequency
T:R0.58
C:V0.42
Amino Acid Position 1193
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL01937
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0.79
Polyphen Prediction Possibly damaging
Sift Score 1
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved