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
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
Homolog in other species HIPK1
Immgen Expression
HIGH
Gnf Expression
HIGH(LOWER IN FERTILIZEDEGG, PANCREAS, BROWNFAT, THYROID)
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
G:R0.54
T:V0.46
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

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

 Availability Details 
Availability Cryopreserved