Incidental Mutation 'IGL01322:Chek1'
ID 74105
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chek1
Ensembl Gene ENSMUSG00000032113
Gene Name checkpoint kinase 1
Synonyms Chk1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01322
Quality Score
Status
Chromosome 9
Chromosomal Location 36619935-36637897 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 36629717 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O35280
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: 120,038,422 (GRCm39) L368Q probably damaging Het
Abca2 T A 2: 25,336,794 (GRCm39) probably null Het
Ano7 T A 1: 93,323,230 (GRCm39) V497D probably benign Het
B4gat1 T C 19: 5,090,037 (GRCm39) Y345H probably damaging Het
Bckdha T A 7: 25,358,132 (GRCm39) R12W possibly damaging Het
Bcl7c T A 7: 127,306,608 (GRCm39) N93Y probably damaging Het
Cc2d2a C A 5: 43,846,345 (GRCm39) T368K probably benign Het
Chrdl2 A G 7: 99,666,248 (GRCm39) Y56C probably damaging Het
Cspg4 T A 9: 56,805,872 (GRCm39) F2228I probably damaging Het
Dnah7a T C 1: 53,473,205 (GRCm39) M3474V probably benign Het
Dph7 T C 2: 24,855,629 (GRCm39) S143P possibly damaging Het
Ehbp1 T A 11: 22,039,636 (GRCm39) K821N probably damaging Het
Eomes T C 9: 118,313,898 (GRCm39) S648P probably benign Het
Fam20a A G 11: 109,573,738 (GRCm39) V215A probably damaging Het
Fer1l4 T A 2: 155,862,259 (GRCm39) probably null Het
Frem2 A G 3: 53,448,459 (GRCm39) V2319A probably benign Het
Gtf3c4 T C 2: 28,723,584 (GRCm39) D575G probably benign Het
Ifit1bl2 A G 19: 34,596,404 (GRCm39) V404A probably benign Het
Kcnf1 T C 12: 17,225,349 (GRCm39) M291V probably benign Het
Klra1 T A 6: 130,341,224 (GRCm39) I250F probably benign Het
Klra4 T A 6: 130,038,985 (GRCm39) T136S probably benign Het
Mcrs1 A T 15: 99,141,266 (GRCm39) I399N probably damaging Het
Neo1 T C 9: 58,814,368 (GRCm39) E866G possibly damaging Het
Notch3 T C 17: 32,363,445 (GRCm39) D1206G probably damaging Het
Or10ab4 A G 7: 107,654,188 (GRCm39) probably benign Het
Or14c43 T A 7: 86,115,480 (GRCm39) I287N probably damaging Het
Or4z4 A C 19: 12,076,769 (GRCm39) V78G probably benign Het
Or5ae1 T A 7: 84,565,590 (GRCm39) V201E probably damaging Het
Or5b95 A C 19: 12,658,113 (GRCm39) I214L probably benign Het
Or6c210 A G 10: 129,495,995 (GRCm39) T107A probably benign Het
Pnkd A G 1: 74,390,716 (GRCm39) N336D probably damaging Het
Prag1 T C 8: 36,571,088 (GRCm39) V557A probably benign Het
Ptgfr A C 3: 151,541,323 (GRCm39) S62A probably benign Het
Smc2 A G 4: 52,450,842 (GRCm39) Y220C probably damaging Het
Sufu G A 19: 46,439,382 (GRCm39) E246K probably damaging Het
Sult2a1 T A 7: 13,566,604 (GRCm39) R124* probably null Het
Sult4a1 T A 15: 83,970,817 (GRCm39) Y196F possibly damaging Het
Trim15 G A 17: 37,175,975 (GRCm39) R191W probably damaging Het
Ttn A G 2: 76,773,319 (GRCm39) V2361A possibly damaging Het
Usp16 T C 16: 87,263,164 (GRCm39) V122A possibly damaging Het
Vmn1r122 T A 7: 20,868,036 (GRCm39) K6N probably benign Het
Vmn1r34 G A 6: 66,613,899 (GRCm39) Q280* probably null Het
Vmn2r45 T A 7: 8,484,332 (GRCm39) H491L possibly damaging Het
Wdpcp T C 11: 21,661,949 (GRCm39) L407P probably damaging Het
Zfp157 T C 5: 138,445,840 (GRCm39) I65T probably benign Het
Other mutations in Chek1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00659:Chek1 APN 9 36,633,895 (GRCm39) splice site probably null
IGL01061:Chek1 APN 9 36,625,815 (GRCm39) missense possibly damaging 0.70
IGL01627:Chek1 APN 9 36,635,191 (GRCm39) missense probably damaging 1.00
IGL02379:Chek1 APN 9 36,635,242 (GRCm39) missense probably benign 0.03
IGL03160:Chek1 APN 9 36,633,941 (GRCm39) missense probably damaging 1.00
R0558:Chek1 UTSW 9 36,623,411 (GRCm39) missense possibly damaging 0.72
R1035:Chek1 UTSW 9 36,627,769 (GRCm39) missense probably damaging 1.00
R1466:Chek1 UTSW 9 36,637,153 (GRCm39) missense probably damaging 1.00
R1466:Chek1 UTSW 9 36,637,153 (GRCm39) missense probably damaging 1.00
R1606:Chek1 UTSW 9 36,630,820 (GRCm39) missense probably damaging 1.00
R1627:Chek1 UTSW 9 36,625,737 (GRCm39) missense probably benign
R2152:Chek1 UTSW 9 36,635,279 (GRCm39) missense probably damaging 1.00
R2153:Chek1 UTSW 9 36,635,279 (GRCm39) missense probably damaging 1.00
R2154:Chek1 UTSW 9 36,635,279 (GRCm39) missense probably damaging 1.00
R2270:Chek1 UTSW 9 36,630,982 (GRCm39) missense probably damaging 1.00
R4014:Chek1 UTSW 9 36,634,050 (GRCm39) splice site probably benign
R5285:Chek1 UTSW 9 36,625,748 (GRCm39) missense probably benign 0.00
R5458:Chek1 UTSW 9 36,625,725 (GRCm39) missense probably benign 0.30
R5547:Chek1 UTSW 9 36,623,400 (GRCm39) missense probably benign 0.02
R5819:Chek1 UTSW 9 36,621,701 (GRCm39) missense probably benign 0.01
R5853:Chek1 UTSW 9 36,624,983 (GRCm39) missense probably damaging 1.00
R6334:Chek1 UTSW 9 36,625,788 (GRCm39) missense possibly damaging 0.59
R6353:Chek1 UTSW 9 36,635,255 (GRCm39) missense probably benign 0.01
R7319:Chek1 UTSW 9 36,633,939 (GRCm39) missense probably damaging 1.00
R8235:Chek1 UTSW 9 36,630,870 (GRCm39) missense probably benign 0.00
R8380:Chek1 UTSW 9 36,623,408 (GRCm39) missense probably benign 0.41
R8532:Chek1 UTSW 9 36,630,988 (GRCm39) missense probably benign 0.31
R8693:Chek1 UTSW 9 36,625,140 (GRCm39) missense probably benign
R8762:Chek1 UTSW 9 36,629,636 (GRCm39) missense probably benign 0.02
R8787:Chek1 UTSW 9 36,625,033 (GRCm39) nonsense probably null
R9511:Chek1 UTSW 9 36,624,747 (GRCm39) missense probably benign 0.06
R9520:Chek1 UTSW 9 36,625,121 (GRCm39) missense probably benign 0.04
Posted On 2013-10-07