Incidental Mutation 'R5285:Chek1'
ID 402997
Institutional Source Beutler Lab
Gene Symbol Chek1
Ensembl Gene ENSMUSG00000032113
Gene Name checkpoint kinase 1
Synonyms Chk1
MMRRC Submission 042869-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5285 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 36619935-36637897 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36625748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 299 (D299G)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034625] [ENSMUST00000172702] [ENSMUST00000173963]
AlphaFold O35280
Predicted Effect probably benign
Transcript: ENSMUST00000034625
AA Change: D299G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034625
Gene: ENSMUSG00000032113
AA Change: D299G

DomainStartEndE-ValueType
S_TKc 9 265 4.79e-85 SMART
low complexity region 280 291 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172702
AA Change: D299G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134388
Gene: ENSMUSG00000032113
AA Change: D299G

DomainStartEndE-ValueType
S_TKc 9 265 4.79e-85 SMART
low complexity region 280 291 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173534
AA Change: D299G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000134013
Gene: ENSMUSG00000032113
AA Change: D299G

DomainStartEndE-ValueType
S_TKc 9 265 4.79e-85 SMART
low complexity region 280 291 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173963
AA Change: D299G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134029
Gene: ENSMUSG00000032113
AA Change: D299G

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 0.0601 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (65/66)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A G 8: 106,435,097 (GRCm39) T12A probably benign Het
Acbd6 T A 1: 155,434,471 (GRCm39) S30T probably benign Het
Adcy8 G T 15: 64,639,706 (GRCm39) H685N possibly damaging Het
Aldh1l1 A T 6: 90,553,752 (GRCm39) K539* probably null Het
Ap1m2 G T 9: 21,216,933 (GRCm39) Y134* probably null Het
Apobr A G 7: 126,184,175 (GRCm39) probably benign Het
Atl1 A G 12: 70,001,273 (GRCm39) K345R probably benign Het
Avil T C 10: 126,854,328 (GRCm39) L765P probably damaging Het
Caps2 T A 10: 112,044,216 (GRCm39) Y472N probably benign Het
Catspere2 A G 1: 177,931,454 (GRCm39) K458E unknown Het
Cd177 A T 7: 24,445,674 (GRCm39) S590T probably benign Het
Cep295 T C 9: 15,233,887 (GRCm39) D2223G probably benign Het
Cfh T C 1: 140,028,636 (GRCm39) T493A probably benign Het
Cpox G A 16: 58,495,649 (GRCm39) G322D probably damaging Het
Crhr1 A T 11: 104,061,323 (GRCm39) I243F possibly damaging Het
Cyp3a11 A G 5: 145,791,893 (GRCm39) V500A probably benign Het
Dcdc5 A T 2: 106,198,500 (GRCm39) noncoding transcript Het
Ergic3 A G 2: 155,859,957 (GRCm39) probably benign Het
Fabp3-ps1 T G 10: 86,568,066 (GRCm39) probably benign Het
Gm6445 C A 19: 9,585,032 (GRCm39) noncoding transcript Het
Gucy2d C A 7: 98,107,474 (GRCm39) probably null Het
Ighv1-19-1 C A 12: 114,667,872 (GRCm39) probably benign Het
Igkv2-116 G T 6: 68,129,463 (GRCm39) R75L probably benign Het
Inhbc C A 10: 127,193,269 (GRCm39) R249L probably damaging Het
Lrrn2 T A 1: 132,866,983 (GRCm39) S683T possibly damaging Het
Lyst T C 13: 13,809,011 (GRCm39) V227A probably benign Het
Mroh5 TGGAG TG 15: 73,654,923 (GRCm39) probably benign Het
Msh4 T C 3: 153,579,350 (GRCm39) N587S probably benign Het
Mug1 G A 6: 121,818,066 (GRCm39) E126K probably benign Het
Nav2 T C 7: 49,197,982 (GRCm39) S1204P probably damaging Het
Ncor1 A G 11: 62,283,475 (GRCm39) I413T probably damaging Het
Nipa2 A T 7: 55,582,760 (GRCm39) Y328* probably null Het
Or1e25 T A 11: 73,493,767 (GRCm39) Y120* probably null Het
Or51a24 A G 7: 103,733,340 (GRCm39) *316R probably null Het
Or52s1 C T 7: 102,862,005 (GRCm39) R302* probably null Het
Or5k15 A T 16: 58,710,471 (GRCm39) Y37* probably null Het
Or5k3 T C 16: 58,969,633 (GRCm39) L140P probably damaging Het
Pla2g4e T C 2: 120,019,985 (GRCm39) D155G probably damaging Het
Plxnb1 C T 9: 108,937,527 (GRCm39) T1176I probably damaging Het
Polg A G 7: 79,114,973 (GRCm39) probably benign Het
Prl8a2 G A 13: 27,534,116 (GRCm39) probably null Het
Prmt7 G A 8: 106,974,991 (GRCm39) R529Q probably benign Het
Psg17 T A 7: 18,554,126 (GRCm39) L41F probably benign Het
Rad18 T C 6: 112,663,726 (GRCm39) R73G probably benign Het
Rhpn2 G T 7: 35,080,990 (GRCm39) probably benign Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sarm1 A G 11: 78,388,265 (GRCm39) F7S probably benign Het
Sgip1 T A 4: 102,778,674 (GRCm39) probably benign Het
Sh3gl2 A G 4: 85,294,686 (GRCm39) K99R probably benign Het
Sorbs1 G A 19: 40,310,334 (GRCm39) T1018I probably damaging Het
Spns2 G A 11: 72,380,305 (GRCm39) A106V possibly damaging Het
Stab1 A G 14: 30,865,433 (GRCm39) probably benign Het
Steap3 T C 1: 120,169,610 (GRCm39) D191G probably damaging Het
Stxbp5 T C 10: 9,674,019 (GRCm39) probably null Het
Sycp2 A T 2: 178,034,191 (GRCm39) probably null Het
Tm6sf1 A G 7: 81,509,200 (GRCm39) S2G possibly damaging Het
Usp24 T A 4: 106,264,230 (GRCm39) D1720E probably benign Het
Vmn1r200 G A 13: 22,579,457 (GRCm39) E78K possibly damaging Het
Vmn2r120 A G 17: 57,843,703 (GRCm39) L47P probably damaging Het
Vmn2r14 T C 5: 109,365,442 (GRCm39) N544S probably damaging Het
Vwa1 C T 4: 155,855,352 (GRCm39) A254T probably benign Het
Zfp7 G A 15: 76,775,422 (GRCm39) R488Q probably damaging Het
Zfp940 A T 7: 29,545,025 (GRCm39) L294H probably damaging 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
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
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'- TCTCTGTGGGGAATAACTACATTTAAG -3'
(R):5'- CAGTCTATAAATGGATTTAGATGTGGC -3'

Sequencing Primer
(F):5'- TAAACTTGTAATCACAACACTCAGG -3'
(R):5'- GATGTGGCTTTATTCAAATTGCTAG -3'
Posted On 2016-07-22