Incidental Mutation 'R8950:Rad17'
ID 681591
Institutional Source Beutler Lab
Gene Symbol Rad17
Ensembl Gene ENSMUSG00000021635
Gene Name RAD17 checkpoint clamp loader component
Synonyms MmRad24, 9430035O09Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8950 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 100753672-100787559 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100767576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 342 (S342P)
Ref Sequence ENSEMBL: ENSMUSP00000136292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022136] [ENSMUST00000177848] [ENSMUST00000226050]
AlphaFold Q6NXW6
Predicted Effect probably damaging
Transcript: ENSMUST00000022136
AA Change: S342P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: S342P

DomainStartEndE-ValueType
low complexity region 30 39 N/A INTRINSIC
AAA 128 280 1.1e-4 SMART
low complexity region 342 355 N/A INTRINSIC
low complexity region 552 567 N/A INTRINSIC
low complexity region 619 635 N/A INTRINSIC
low complexity region 669 687 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000177848
AA Change: S342P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: S342P

DomainStartEndE-ValueType
low complexity region 30 39 N/A INTRINSIC
AAA 128 280 1.1e-4 SMART
low complexity region 342 355 N/A INTRINSIC
low complexity region 552 567 N/A INTRINSIC
low complexity region 619 635 N/A INTRINSIC
low complexity region 669 687 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226050
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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 is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous null mice display embryonic lethality with incomplete somite formation, abnormal bracnchial arch, liver, and heart morphology, abnormal neural tube development, and multiple hemorrhages. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,823,595 (GRCm39) F374S possibly damaging Het
Abca14 T A 7: 119,823,644 (GRCm39) Y390* probably null Het
Abca9 T C 11: 110,054,206 (GRCm39) probably null Het
Anxa1 G T 19: 20,352,662 (GRCm39) S304* probably null Het
Aspm G A 1: 139,406,690 (GRCm39) R1859Q probably damaging Het
Atp13a5 A T 16: 29,197,314 (GRCm39) N14K probably damaging Het
Bmpr1a G T 14: 34,163,148 (GRCm39) H81N possibly damaging Het
Camkv C T 9: 107,824,296 (GRCm39) T236I probably damaging Het
Carm1 T A 9: 21,490,789 (GRCm39) M219K probably damaging Het
Ccdc162 T C 10: 41,474,507 (GRCm39) R1352G probably benign Het
Cd200l1 A T 16: 45,263,007 (GRCm39) V44D possibly damaging Het
Cib1 A G 7: 79,878,211 (GRCm39) L89P probably damaging Het
Col6a5 C T 9: 105,822,833 (GRCm39) E175K unknown Het
Crebbp A G 16: 4,031,023 (GRCm39) F22S probably damaging Het
Csf2rb A T 15: 78,232,520 (GRCm39) D609V probably benign Het
Csn1s1 T C 5: 87,824,482 (GRCm39) probably null Het
Dchs1 A T 7: 105,408,212 (GRCm39) H1873Q probably benign Het
Dnah1 T C 14: 31,012,396 (GRCm39) D1901G probably damaging Het
Dock10 G T 1: 80,519,016 (GRCm39) T1235N probably benign Het
Eddm3b T A 14: 51,354,110 (GRCm39) S33T probably damaging Het
Fam151b A T 13: 92,610,567 (GRCm39) M74K probably damaging Het
Fat1 T A 8: 45,476,158 (GRCm39) F1735I probably damaging Het
Fcgbpl1 A G 7: 27,863,751 (GRCm39) R2508G probably benign Het
Fip1l1 T G 5: 74,756,524 (GRCm39) S505R probably damaging Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Gpr180 A G 14: 118,395,452 (GRCm39) I295V probably benign Het
Gtf3c2 G A 5: 31,331,151 (GRCm39) T175I probably damaging Het
Hmcn2 T C 2: 31,244,741 (GRCm39) Y733H probably damaging Het
Irs1 T A 1: 82,264,652 (GRCm39) Q1188L probably benign Het
Kcnk5 T C 14: 20,192,046 (GRCm39) R372G probably benign Het
Kdm5b T A 1: 134,541,664 (GRCm39) N746K possibly damaging Het
Kdm7a T C 6: 39,123,903 (GRCm39) I754V probably benign Het
Mad2l1bp G A 17: 46,458,891 (GRCm39) T213I possibly damaging Het
Map2 G T 1: 66,419,684 (GRCm39) R5L probably damaging Het
Map4 G A 9: 109,901,702 (GRCm39) V781M possibly damaging Het
Mbd2 A G 18: 70,713,864 (GRCm39) D231G probably damaging Het
Negr1 C A 3: 156,721,906 (GRCm39) P160Q probably damaging Het
Nfya A T 17: 48,700,489 (GRCm39) probably benign Het
Nlk T C 11: 78,586,758 (GRCm39) Q112R probably benign Het
Obscn C A 11: 58,947,009 (GRCm39) A4339S probably damaging Het
Or3a10 A G 11: 73,935,782 (GRCm39) F106S possibly damaging Het
Or5b99 A T 19: 12,976,445 (GRCm39) I32F probably damaging Het
Pcdhb12 A G 18: 37,570,590 (GRCm39) T579A probably benign Het
Pcdhb2 G A 18: 37,429,715 (GRCm39) V563M probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Piezo1 T C 8: 123,208,729 (GRCm39) R2545G probably benign Het
Plcb1 A G 2: 135,179,439 (GRCm39) N616D probably damaging Het
Pogk A T 1: 166,226,394 (GRCm39) F586I probably damaging Het
Polr1f T A 12: 33,483,526 (GRCm39) Y93N probably damaging Het
Prkg2 T A 5: 99,119,815 (GRCm39) I435F possibly damaging Het
Prrt4 T C 6: 29,177,665 (GRCm39) T35A probably damaging Het
Rpl36-ps4 A G 17: 88,228,574 (GRCm39) T40A probably damaging Het
Skint5 T C 4: 113,374,349 (GRCm39) T1247A unknown Het
Slc22a14 A G 9: 118,998,778 (GRCm39) L182P possibly damaging Het
Slc35b3 T C 13: 39,138,097 (GRCm39) D104G probably damaging Het
Sult2a1 A G 7: 13,530,342 (GRCm39) F266L probably damaging Het
Sult2a2 A T 7: 13,467,484 (GRCm39) M1L probably damaging Het
Tat T A 8: 110,718,337 (GRCm39) I74N probably damaging Het
Trappc6a G T 7: 19,249,923 (GRCm39) probably benign Het
Usp44 A G 10: 93,682,129 (GRCm39) E193G possibly damaging Het
Virma C T 4: 11,519,047 (GRCm39) Q765* probably null Het
Vmn1r46 T C 6: 89,954,053 (GRCm39) S301P probably damaging Het
Vmn2r116 A T 17: 23,620,467 (GRCm39) I734F probably damaging Het
Vmn2r5 A T 3: 64,398,522 (GRCm39) V819D probably damaging Het
Vmn2r74 A G 7: 85,606,569 (GRCm39) I259T probably damaging Het
Vps13a A G 19: 16,723,340 (GRCm39) I286T probably damaging Het
Wdr73 T C 7: 80,550,131 (GRCm39) I55V probably benign Het
Znhit2 A T 19: 6,111,803 (GRCm39) R183* probably null Het
Other mutations in Rad17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Rad17 APN 13 100,766,031 (GRCm39) missense probably damaging 0.98
IGL00422:Rad17 APN 13 100,766,033 (GRCm39) missense probably benign 0.03
IGL00478:Rad17 APN 13 100,769,782 (GRCm39) missense probably damaging 1.00
IGL01328:Rad17 APN 13 100,754,311 (GRCm39) missense probably benign
IGL01720:Rad17 APN 13 100,759,366 (GRCm39) missense possibly damaging 0.51
IGL01874:Rad17 APN 13 100,754,192 (GRCm39) utr 3 prime probably benign
IGL02305:Rad17 APN 13 100,770,370 (GRCm39) critical splice donor site probably null
IGL02541:Rad17 APN 13 100,769,951 (GRCm39) splice site probably benign
R0678:Rad17 UTSW 13 100,781,692 (GRCm39) missense possibly damaging 0.73
R1079:Rad17 UTSW 13 100,770,407 (GRCm39) missense probably benign 0.01
R1422:Rad17 UTSW 13 100,781,590 (GRCm39) missense probably benign 0.18
R1730:Rad17 UTSW 13 100,759,314 (GRCm39) missense probably damaging 0.97
R3946:Rad17 UTSW 13 100,759,371 (GRCm39) missense possibly damaging 0.70
R4577:Rad17 UTSW 13 100,769,786 (GRCm39) missense probably damaging 1.00
R4735:Rad17 UTSW 13 100,755,637 (GRCm39) missense probably damaging 0.98
R5023:Rad17 UTSW 13 100,781,571 (GRCm39) missense possibly damaging 0.88
R5098:Rad17 UTSW 13 100,754,154 (GRCm39) makesense probably null
R5222:Rad17 UTSW 13 100,770,399 (GRCm39) missense possibly damaging 0.53
R5511:Rad17 UTSW 13 100,764,157 (GRCm39) missense possibly damaging 0.82
R5536:Rad17 UTSW 13 100,767,612 (GRCm39) missense probably damaging 1.00
R5887:Rad17 UTSW 13 100,770,369 (GRCm39) critical splice donor site probably null
R6041:Rad17 UTSW 13 100,754,274 (GRCm39) missense probably benign 0.01
R6173:Rad17 UTSW 13 100,759,389 (GRCm39) missense probably benign
R6342:Rad17 UTSW 13 100,755,644 (GRCm39) missense probably damaging 1.00
R6465:Rad17 UTSW 13 100,773,588 (GRCm39) missense probably benign 0.34
R6730:Rad17 UTSW 13 100,786,253 (GRCm39) start gained probably benign
R6890:Rad17 UTSW 13 100,773,592 (GRCm39) missense probably benign 0.34
R6947:Rad17 UTSW 13 100,759,383 (GRCm39) missense probably damaging 1.00
R7035:Rad17 UTSW 13 100,764,133 (GRCm39) missense possibly damaging 0.78
R7113:Rad17 UTSW 13 100,766,025 (GRCm39) missense probably benign 0.03
R7408:Rad17 UTSW 13 100,766,019 (GRCm39) nonsense probably null
R7553:Rad17 UTSW 13 100,769,794 (GRCm39) missense probably damaging 1.00
R7573:Rad17 UTSW 13 100,765,974 (GRCm39) missense probably damaging 0.99
R8313:Rad17 UTSW 13 100,761,074 (GRCm39) missense probably benign 0.02
R8346:Rad17 UTSW 13 100,781,681 (GRCm39) missense possibly damaging 0.77
R8739:Rad17 UTSW 13 100,765,998 (GRCm39) missense probably benign
R8874:Rad17 UTSW 13 100,754,327 (GRCm39) missense probably benign 0.00
R8921:Rad17 UTSW 13 100,754,192 (GRCm39) utr 3 prime probably benign
R9189:Rad17 UTSW 13 100,773,564 (GRCm39) missense probably damaging 1.00
R9367:Rad17 UTSW 13 100,769,720 (GRCm39) missense possibly damaging 0.79
R9431:Rad17 UTSW 13 100,780,074 (GRCm39) missense probably damaging 1.00
R9447:Rad17 UTSW 13 100,764,119 (GRCm39) missense probably damaging 1.00
R9624:Rad17 UTSW 13 100,773,503 (GRCm39) missense probably damaging 0.99
RF022:Rad17 UTSW 13 100,773,593 (GRCm39) missense probably damaging 1.00
Z1176:Rad17 UTSW 13 100,764,140 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TGGGCTGATGACAACAGATAATTC -3'
(R):5'- ATGTTCTACGGTACCTGGGCTG -3'

Sequencing Primer
(F):5'- TTCAATGGCAAAAGACCTGTCTAC -3'
(R):5'- GCTGTGGAAGTTTTTAAGACATTC -3'
Posted On 2021-08-31