Chek2 - SNV Details

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 Human Rare Diseases 
Li-Fraumeni syndrome
Osteosarcoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome

 Gene Information 
Gene Name Chek2
Old Gene Names for Chek2 Rad53
Gene Description checkpoint kinase 2 [Source:MGI Symbol;Acc:MGI:1355321]
MGI phenotype Homozygous mutation of this gene does not increase tumor incidence. Cells from the thymus, central nervous system (CNS), hair follicles, and skin are resistant to ionizing radiation- and gamma irradiation-induced apoptosis.
Uniprot Name
CCDS Name
Gene GO
cell division; protein kinase activity; transcription
DNA-dependent; regulation of protein catabolic process; protein autophosphorylation; chromosome
telomeric region; apoptotic process; DNA damage checkpoint; kinase activity; signal transduction involved in intra-S DNA damage checkpoint; metal ion binding; ubiquitin protein ligase binding; transferase activity
transferring phosphorus-containing groups; protein homodimerization activity; spindle assembly involved in mitosis; protein binding; PML body; response to gamma radiation; positive regulation of transcription
DNA-dependent; intrinsic apoptotic signaling pathway in response to DNA damage response; double-strand break repair; DNA damage induced protein phosphorylation; cellular protein catabolic process; protein phosphorylation; regulation of transcription
DNA-dependent; response to DNA damage stimulus; G2/M transition of mitotic cell cycle; protein tyrosine kinase activity; ATP binding; signal transduction in response to DNA damage; protein kinase binding; protein serine/threonine kinase activity
Homolog in other species CHEK2
Omim http://omim.org/entry/604373
Immgen Expression
MEDIAN(HIGHER IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
Gnf Expression
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM.G1, IMM.G3, OSTEO GROUP, M1, EMBRYONIC.STEM TISSUES)
HIGH(HIGHER IN IMM.G1, IMM.G3, AND EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029521
Chromosome 5
Coordinate 110,867,011     (Assembly: GRCm38)    
Ref Base T
Codon Change Tac/Cac
Var Base C
Zygosity Heterozygous
Read Depth 71
Allele Frequency
T:R0.51
C:V0.48
Amino Acid Position 449
Amino Acid Change Y->H (Tyrosine -> Histidine)
Sample ID IGL02319
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved