Incidental Mutation 'IGL01322:Chek1'
ID74105
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chek1
Ensembl Gene ENSMUSG00000032113
Gene Namecheckpoint kinase 1
SynonymsChk1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01322
Quality Score
Status
Chromosome9
Chromosomal Location36708482-36727065 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 36718421 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 210 (Q210*)
Ref Sequence ENSEMBL: ENSMUSP00000134029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034625] [ENSMUST00000172702] [ENSMUST00000173963]
Predicted Effect probably null
Transcript: ENSMUST00000034625
AA Change: Q210*
SMART Domains Protein: ENSMUSP00000034625
Gene: ENSMUSG00000032113
AA Change: Q210*

DomainStartEndE-ValueType
S_TKc 9 265 4.79e-85 SMART
low complexity region 280 291 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000172702
AA Change: Q210*
SMART Domains Protein: ENSMUSP00000134388
Gene: ENSMUSG00000032113
AA Change: Q210*

DomainStartEndE-ValueType
S_TKc 9 265 4.79e-85 SMART
low complexity region 280 291 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000173534
AA Change: Q210*
SMART Domains Protein: ENSMUSP00000134013
Gene: ENSMUSG00000032113
AA Change: Q210*

DomainStartEndE-ValueType
S_TKc 9 265 4.79e-85 SMART
low complexity region 280 291 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173796
Predicted Effect probably null
Transcript: ENSMUST00000173963
AA Change: Q210*
SMART Domains Protein: ENSMUSP00000134029
Gene: ENSMUSG00000032113
AA Change: Q210*

DomainStartEndE-ValueType
S_TKc 9 265 4.79e-85 SMART
low complexity region 280 291 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174105
SMART Domains Protein: ENSMUSP00000134398
Gene: ENSMUSG00000032113

DomainStartEndE-ValueType
STYKc 1 99 4.6e-3 SMART
low complexity region 114 125 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174794
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Ser/Thr protein kinase family. It is required for checkpoint mediated cell cycle arrest in response to DNA damage or the presence of unreplicated DNA. This protein acts to integrate signals from ATM and ATR, two cell cycle proteins involved in DNA damage responses, that also associate with chromatin in meiotic prophase I. Phosphorylation of CDC25A protein phosphatase by this protein is required for cells to delay cell cycle progression in response to double-strand DNA breaks. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality between E2.5 and E7.5, impaired cell cycle checkpoint function, increase in blastocyst apoptosis and lack of inner cell mass proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,439,199 L368Q probably damaging Het
Abca2 T A 2: 25,446,782 probably null Het
Ano7 T A 1: 93,395,508 V497D probably benign Het
B4gat1 T C 19: 5,040,009 Y345H probably damaging Het
Bckdha T A 7: 25,658,707 R12W possibly damaging Het
Bcl7c T A 7: 127,707,436 N93Y probably damaging Het
Cc2d2a C A 5: 43,689,003 T368K probably benign Het
Chrdl2 A G 7: 100,017,041 Y56C probably damaging Het
Cspg4 T A 9: 56,898,588 F2228I probably damaging Het
Dnah7a T C 1: 53,434,046 M3474V probably benign Het
Dph7 T C 2: 24,965,617 S143P possibly damaging Het
Ehbp1 T A 11: 22,089,636 K821N probably damaging Het
Eomes T C 9: 118,484,830 S648P probably benign Het
Fam20a A G 11: 109,682,912 V215A probably damaging Het
Fer1l4 T A 2: 156,020,339 probably null Het
Frem2 A G 3: 53,541,038 V2319A probably benign Het
Gtf3c4 T C 2: 28,833,572 D575G probably benign Het
Ifit1bl2 A G 19: 34,619,004 V404A probably benign Het
Kcnf1 T C 12: 17,175,348 M291V probably benign Het
Klra1 T A 6: 130,364,261 I250F probably benign Het
Klra4 T A 6: 130,062,022 T136S probably benign Het
Mcrs1 A T 15: 99,243,385 I399N probably damaging Het
Neo1 T C 9: 58,907,085 E866G possibly damaging Het
Notch3 T C 17: 32,144,471 D1206G probably damaging Het
Olfr1427 A C 19: 12,099,405 V78G probably benign Het
Olfr1443 A C 19: 12,680,749 I214L probably benign Het
Olfr290 T A 7: 84,916,382 V201E probably damaging Het
Olfr299 T A 7: 86,466,272 I287N probably damaging Het
Olfr479 A G 7: 108,054,981 probably benign Het
Olfr800 A G 10: 129,660,126 T107A probably benign Het
Pnkd A G 1: 74,351,557 N336D probably damaging Het
Prag1 T C 8: 36,103,934 V557A probably benign Het
Ptgfr A C 3: 151,835,686 S62A probably benign Het
Smc2 A G 4: 52,450,842 Y220C probably damaging Het
Sufu G A 19: 46,450,943 E246K probably damaging Het
Sult2a1 T A 7: 13,832,679 R124* probably null Het
Sult4a1 T A 15: 84,086,616 Y196F possibly damaging Het
Trim15 G A 17: 36,865,083 R191W probably damaging Het
Ttn A G 2: 76,942,975 V2361A possibly damaging Het
Usp16 T C 16: 87,466,276 V122A possibly damaging Het
Vmn1r122 T A 7: 21,134,111 K6N probably benign Het
Vmn1r34 G A 6: 66,636,915 Q280* probably null Het
Vmn2r45 T A 7: 8,481,333 H491L possibly damaging Het
Wdpcp T C 11: 21,711,949 L407P probably damaging Het
Zfp157 T C 5: 138,447,578 I65T probably benign Het
Other mutations in Chek1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00659:Chek1 APN 9 36722599 splice site probably null
IGL01061:Chek1 APN 9 36714519 missense possibly damaging 0.70
IGL01627:Chek1 APN 9 36723895 missense probably damaging 1.00
IGL02379:Chek1 APN 9 36723946 missense probably benign 0.03
IGL03160:Chek1 APN 9 36722645 missense probably damaging 1.00
R0558:Chek1 UTSW 9 36712115 missense possibly damaging 0.72
R1035:Chek1 UTSW 9 36716473 missense probably damaging 1.00
R1466:Chek1 UTSW 9 36725857 missense probably damaging 1.00
R1466:Chek1 UTSW 9 36725857 missense probably damaging 1.00
R1606:Chek1 UTSW 9 36719524 missense probably damaging 1.00
R1627:Chek1 UTSW 9 36714441 missense probably benign
R2152:Chek1 UTSW 9 36723983 missense probably damaging 1.00
R2153:Chek1 UTSW 9 36723983 missense probably damaging 1.00
R2154:Chek1 UTSW 9 36723983 missense probably damaging 1.00
R2270:Chek1 UTSW 9 36719686 missense probably damaging 1.00
R4014:Chek1 UTSW 9 36722754 splice site probably benign
R5285:Chek1 UTSW 9 36714452 missense probably benign 0.00
R5458:Chek1 UTSW 9 36714429 missense probably benign 0.30
R5547:Chek1 UTSW 9 36712104 missense probably benign 0.02
R5819:Chek1 UTSW 9 36710405 missense probably benign 0.01
R5853:Chek1 UTSW 9 36713687 missense probably damaging 1.00
R6334:Chek1 UTSW 9 36714492 missense possibly damaging 0.59
R6353:Chek1 UTSW 9 36723959 missense probably benign 0.01
R7319:Chek1 UTSW 9 36722643 missense probably damaging 1.00
R8235:Chek1 UTSW 9 36719574 missense probably benign 0.00
R8380:Chek1 UTSW 9 36712112 missense probably benign 0.41
Posted On2013-10-07