Hipk1 - SNV Details

 Gene Information 
Gene Name Hipk1
Old Gene Names for Hipk1 1110062k04rik
Gene Description homeodomain interacting protein kinase 1 [Source:MGI Symbol;Acc:MGI:1314873]
MGI phenotype Homozygous null mice are viable and fertile, do not develop spontaneous tumors, and are resistant to DMBA-induced skin tumor formation.
Uniprot 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
Homolog in other species HIPK1
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000008730
Chromosome 3
Coordinate 103,760,636     (Assembly: GRCm38)    
Ref Base G
Codon Change aaC/aaA
Var Base T
Zygosity Heterozygous
Read Depth 24
Allele Frequency
Amino Acid Position 538
Amino Acid Change N->K (Asparagine -> Lysine)
Sample ID IGL01024
Median Base Quality 40.5
Backgrounds Balb/C,C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 52 Other Mutations

Polyphen Score 0.38
Polyphen Prediction Benign
Sift Score 0.09
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved