Incidental Mutation 'IGL02319:Chek2'
ID288159
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chek2
Ensembl Gene ENSMUSG00000029521
Gene Namecheckpoint kinase 2
SynonymsRad53, CHK2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02319
Quality Score
Status
Chromosome5
Chromosomal Location110839979-110874145 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 110867011 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 449 (Y449H)
Ref Sequence ENSEMBL: ENSMUSP00000066679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066160] [ENSMUST00000199937]
Predicted Effect possibly damaging
Transcript: ENSMUST00000066160
AA Change: Y449H

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066679
Gene: ENSMUSG00000029521
AA Change: Y449H

DomainStartEndE-ValueType
low complexity region 2 37 N/A INTRINSIC
low complexity region 41 72 N/A INTRINSIC
FHA 116 179 5.14e-3 SMART
S_TKc 224 490 7.35e-104 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196650
Predicted Effect probably benign
Transcript: ENSMUST00000199937
SMART Domains Protein: ENSMUSP00000143558
Gene: ENSMUSG00000029521

DomainStartEndE-ValueType
low complexity region 2 37 N/A INTRINSIC
low complexity region 41 72 N/A INTRINSIC
FHA 116 179 2.6e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
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. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T C 10: 106,948,750 Y537C probably damaging Het
Ambra1 A G 2: 91,886,920 H854R probably damaging Het
Atf7ip A G 6: 136,593,118 N981S probably benign Het
Atp6v1d A G 12: 78,861,456 S2P probably damaging Het
Cd59a A T 2: 104,114,028 I74F possibly damaging Het
Ctif C T 18: 75,521,873 probably benign Het
Dnaaf3 T C 7: 4,523,947 E403G probably damaging Het
Dock1 T G 7: 134,772,449 V608G possibly damaging Het
Fcf1 T C 12: 84,971,208 probably null Het
Fgf17 T G 14: 70,636,743 Q202P possibly damaging Het
Hnrnpm A T 17: 33,649,950 L501Q probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Klra6 A T 6: 130,025,214 S2R probably damaging Het
Krtap19-9b T A 16: 88,932,114 Y33F unknown Het
Lpcat4 G A 2: 112,243,884 V264M probably damaging Het
Lyzl6 T C 11: 103,635,036 Y86C probably damaging Het
Myo18b T C 5: 112,791,139 K1669E probably damaging Het
Nbea A G 3: 55,985,738 V1558A probably damaging Het
Olfr1458 A G 19: 13,102,662 I214T probably benign Het
Olfr606 G A 7: 103,452,267 C310Y probably benign Het
Olfr643 A G 7: 104,058,933 I223T probably damaging Het
Olfr911-ps1 T A 9: 38,523,870 I46N probably damaging Het
Pex11b T C 3: 96,643,569 probably benign Het
Rbm5 A T 9: 107,743,865 L689* probably null Het
Rd3 G T 1: 191,983,491 G76C probably null Het
Rgs16 A T 1: 153,742,106 I121F probably damaging Het
Tmem30a A T 9: 79,774,203 M264K probably damaging Het
Traf2 T C 2: 25,536,683 E127G probably damaging Het
Trmt11 A T 10: 30,560,873 D290E probably damaging Het
Wdr35 C A 12: 9,027,480 probably benign Het
Wnk2 A G 13: 49,061,438 S1211P possibly damaging Het
Other mutations in Chek2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Chek2 APN 5 110848670 missense probably damaging 1.00
IGL01830:Chek2 APN 5 110873508 missense probably benign
IGL01943:Chek2 APN 5 110841227 unclassified probably benign
IGL03147:Chek2 UTSW 5 110848670 missense probably damaging 1.00
PIT4520001:Chek2 UTSW 5 110863329 missense probably damaging 1.00
R1484:Chek2 UTSW 5 110848687 missense probably damaging 1.00
R1486:Chek2 UTSW 5 110841227 unclassified probably benign
R1732:Chek2 UTSW 5 110872102 missense probably benign 0.26
R2041:Chek2 UTSW 5 110848664 missense probably damaging 1.00
R2071:Chek2 UTSW 5 110841246 unclassified probably benign
R2873:Chek2 UTSW 5 110863336 nonsense probably null
R2935:Chek2 UTSW 5 110868020 missense probably damaging 1.00
R3899:Chek2 UTSW 5 110865613 splice site probably benign
R4662:Chek2 UTSW 5 110867042 missense probably damaging 1.00
R4748:Chek2 UTSW 5 110855839 splice site probably null
R5358:Chek2 UTSW 5 110841282 unclassified probably benign
R5582:Chek2 UTSW 5 110868035 missense probably damaging 0.96
R5594:Chek2 UTSW 5 110855834 critical splice donor site probably null
R6526:Chek2 UTSW 5 110848690 missense probably damaging 1.00
R6972:Chek2 UTSW 5 110855839 splice site probably null
R7232:Chek2 UTSW 5 110860915 missense probably damaging 1.00
Posted On2015-04-16