Incidental Mutation 'R0558:Chek1'
ID 45731
Institutional Source Beutler Lab
Gene Symbol Chek1
Ensembl Gene ENSMUSG00000032113
Gene Name checkpoint kinase 1
Synonyms Chk1
MMRRC Submission 038750-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0558 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 36619935-36637897 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36623411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 421 (N421I)
Ref Sequence ENSEMBL: ENSMUSP00000134388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034625] [ENSMUST00000172702] [ENSMUST00000173963]
AlphaFold O35280
Predicted Effect possibly damaging
Transcript: ENSMUST00000034625
AA Change: N421I

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034625
Gene: ENSMUSG00000032113
AA Change: N421I

DomainStartEndE-ValueType
S_TKc 9 265 4.79e-85 SMART
low complexity region 280 291 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000172702
AA Change: N421I

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134388
Gene: ENSMUSG00000032113
AA Change: N421I

DomainStartEndE-ValueType
S_TKc 9 265 4.79e-85 SMART
low complexity region 280 291 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000173534
AA Change: N377I

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134013
Gene: ENSMUSG00000032113
AA Change: N377I

DomainStartEndE-ValueType
S_TKc 9 265 4.79e-85 SMART
low complexity region 280 291 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173963
SMART Domains Protein: ENSMUSP00000134029
Gene: ENSMUSG00000032113

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
Meta Mutation Damage Score 0.1643 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (80/80)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,789,163 (GRCm39) G273R probably benign Het
Adamts10 T C 17: 33,769,583 (GRCm39) V935A probably benign Het
Anapc15-ps T C 10: 95,508,983 (GRCm39) D90G probably damaging Het
Atic T A 1: 71,602,947 (GRCm39) V107E probably benign Het
Atp4b T C 8: 13,443,523 (GRCm39) T52A possibly damaging Het
Cacna1h C T 17: 25,600,524 (GRCm39) A1606T probably damaging Het
Cacng6 T A 7: 3,483,324 (GRCm39) Y217* probably null Het
Cc2d2a T G 5: 43,881,729 (GRCm39) probably benign Het
Cd226 T A 18: 89,225,338 (GRCm39) H78Q probably benign Het
Cers3 A G 7: 66,433,166 (GRCm39) D161G probably damaging Het
Ces1f T C 8: 94,002,017 (GRCm39) H37R probably benign Het
Cfhr4 A G 1: 139,667,230 (GRCm39) V376A probably damaging Het
Cibar1 T C 4: 12,164,095 (GRCm39) D248G probably damaging Het
Cma2 T C 14: 56,210,249 (GRCm39) Y45H probably damaging Het
Cmas C A 6: 142,720,970 (GRCm39) Y401* probably null Het
Cyp2j8 A T 4: 96,332,871 (GRCm39) S492T probably benign Het
Dnah12 T C 14: 26,430,465 (GRCm39) S358P probably benign Het
Dnajc13 T C 9: 104,079,151 (GRCm39) probably null Het
Ep400 A C 5: 110,832,933 (GRCm39) probably benign Het
Fam209 T A 2: 172,314,758 (GRCm39) N82K probably benign Het
G3bp2 A T 5: 92,221,056 (GRCm39) Y20N probably damaging Het
Gli2 T C 1: 118,765,379 (GRCm39) D924G probably benign Het
Gm10787 T C 10: 76,857,850 (GRCm39) noncoding transcript Het
Gm11568 A G 11: 99,748,872 (GRCm39) R26G unknown Het
Hivep3 T G 4: 119,953,763 (GRCm39) L693R probably damaging Het
Hook1 A G 4: 95,881,449 (GRCm39) probably benign Het
Ibtk A C 9: 85,619,591 (GRCm39) D116E probably damaging Het
Insrr C T 3: 87,718,288 (GRCm39) T927I possibly damaging Het
Irx1 T G 13: 72,107,747 (GRCm39) S312R probably benign Het
Itga11 T C 9: 62,659,570 (GRCm39) Y441H probably benign Het
Itsn1 A G 16: 91,696,511 (GRCm39) D38G possibly damaging Het
Kat6b G T 14: 21,719,489 (GRCm39) E1280D probably benign Het
Kcnk10 T A 12: 98,402,560 (GRCm39) Y293F possibly damaging Het
Krt74 T A 15: 101,669,398 (GRCm39) noncoding transcript Het
Lars1 T G 18: 42,347,902 (GRCm39) I974L probably benign Het
Limch1 A G 5: 67,126,498 (GRCm39) D42G probably damaging Het
Mau2 G C 8: 70,495,082 (GRCm39) T85R probably damaging Het
Mkrn3 A G 7: 62,068,612 (GRCm39) I393T probably benign Het
Mpl A C 4: 118,301,217 (GRCm39) S541R probably damaging Het
Nfrkb T C 9: 31,321,564 (GRCm39) S754P possibly damaging Het
Or4c125 A G 2: 89,170,580 (GRCm39) L22P probably benign Het
Or5bw2 T C 7: 6,573,652 (GRCm39) Y221H possibly damaging Het
Or5d41 A G 2: 88,054,818 (GRCm39) V186A possibly damaging Het
Or8g18 T A 9: 39,149,496 (GRCm39) T75S probably damaging Het
P2rx7 A T 5: 122,811,861 (GRCm39) I391F possibly damaging Het
Pbrm1 T A 14: 30,807,016 (GRCm39) probably null Het
Pcdh8 T C 14: 80,007,516 (GRCm39) D349G probably damaging Het
Pias1 A G 9: 62,789,291 (GRCm39) S639P possibly damaging Het
Pkhd1l1 A T 15: 44,347,820 (GRCm39) I232F probably damaging Het
Plxnc1 C T 10: 94,673,797 (GRCm39) R995Q probably damaging Het
Pnliprp2 T A 19: 58,762,519 (GRCm39) S375T probably benign Het
Prkar1b C T 5: 139,005,847 (GRCm39) V313M probably benign Het
Prr35 T C 17: 26,166,523 (GRCm39) N338S probably benign Het
Ptpn13 T C 5: 103,677,583 (GRCm39) S734P probably damaging Het
Rdh1 T C 10: 127,595,810 (GRCm39) W2R possibly damaging Het
Rsph10b A T 5: 143,886,156 (GRCm39) I285L probably benign Het
Rubcnl T C 14: 75,284,987 (GRCm39) F502S probably damaging Het
Ryr2 T A 13: 11,653,329 (GRCm39) I3693F probably damaging Het
Ryr2 T C 13: 11,814,747 (GRCm39) Y675C probably damaging Het
Scaper T C 9: 55,593,207 (GRCm39) T477A probably benign Het
Scn2a G T 2: 65,542,269 (GRCm39) V791L probably benign Het
Sdk1 A T 5: 142,117,820 (GRCm39) T1573S probably damaging Het
Sema3c A T 5: 17,919,413 (GRCm39) H483L probably benign Het
Sema6c T C 3: 95,076,002 (GRCm39) S219P probably damaging Het
Slc10a5 T G 3: 10,400,177 (GRCm39) E161A probably damaging Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Slc34a3 C T 2: 25,123,077 (GRCm39) probably benign Het
Slc38a9 A T 13: 112,865,730 (GRCm39) probably null Het
Taok1 A C 11: 77,450,670 (GRCm39) S367R possibly damaging Het
Tlr6 G A 5: 65,112,203 (GRCm39) Q235* probably null Het
Top2a A G 11: 98,887,665 (GRCm39) V1281A probably benign Het
Tpgs1 T C 10: 79,511,616 (GRCm39) Y253H probably damaging Het
Tubgcp3 T C 8: 12,703,462 (GRCm39) T288A probably benign Het
Ubr4 A G 4: 139,154,213 (GRCm39) E2140G probably benign Het
Uso1 A G 5: 92,321,878 (GRCm39) Q257R probably benign Het
Zfp106 A G 2: 120,362,677 (GRCm39) V48A probably damaging Het
Zfp174 T A 16: 3,666,118 (GRCm39) S128T possibly damaging Het
Zscan26 T A 13: 21,629,225 (GRCm39) D426V 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
IGL01322:Chek1 APN 9 36,629,717 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- AGGGAGGTGGACCACTGAAAGTAAAAT -3'
(R):5'- CGAGCTGCTTAGAGCTACTTACCGA -3'

Sequencing Primer
(F):5'- GAAAGTCGGAAGTCAACCAGT -3'
(R):5'- ggagtgggagagagagtgg -3'
Posted On 2013-06-11