Incidental Mutation 'IGL01720:Rad17'
ID 105073
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01720
Quality Score
Status
Chromosome 13
Chromosomal Location 100753672-100787559 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100759366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 554 (C554S)
Ref Sequence ENSEMBL: ENSMUSP00000136292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022136] [ENSMUST00000177848] [ENSMUST00000226050]
AlphaFold Q6NXW6
Predicted Effect possibly damaging
Transcript: ENSMUST00000022136
AA Change: C554S

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: C554S

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 possibly damaging
Transcript: ENSMUST00000177848
AA Change: C554S

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: C554S

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 noncoding transcript
Transcript: ENSMUST00000225428
Predicted Effect probably benign
Transcript: ENSMUST00000226050
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 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,605,076 (GRCm39) R1773Q probably benign Het
Apc2 T C 10: 80,150,333 (GRCm39) S1796P probably benign Het
Asxl3 A T 18: 22,658,382 (GRCm39) I2131F probably damaging Het
Cdc42bpa T A 1: 179,938,847 (GRCm39) D833E probably damaging Het
Cenpc1 A G 5: 86,193,284 (GRCm39) S202P possibly damaging Het
Cenpf T C 1: 189,414,583 (GRCm39) E178G probably benign Het
Cenpf T C 1: 189,383,412 (GRCm39) Y2636C probably damaging Het
Cfap251 A G 5: 123,460,557 (GRCm39) D1173G probably benign Het
Chkb C T 15: 89,312,155 (GRCm39) probably null Het
Cldn20 A G 17: 3,583,375 (GRCm39) T183A probably benign Het
Cpne8 C T 15: 90,385,703 (GRCm39) V442I probably benign Het
Cx3cl1 T A 8: 95,504,701 (GRCm39) M39K probably damaging Het
Dgkd T A 1: 87,864,487 (GRCm39) L124Q probably damaging Het
Duxf4 A C 10: 58,072,211 (GRCm39) M1R probably null Het
Fam180a T C 6: 35,290,500 (GRCm39) H161R probably benign Het
Galt C A 4: 41,757,463 (GRCm39) R212S probably damaging Het
Gja10 T C 4: 32,601,007 (GRCm39) D459G probably benign Het
Glb1 T C 9: 114,249,573 (GRCm39) probably null Het
Gm5709 A T 3: 59,513,975 (GRCm39) noncoding transcript Het
Igf2r A G 17: 12,920,200 (GRCm39) Y1380H probably damaging Het
Jag1 C T 2: 136,929,023 (GRCm39) G811D probably damaging Het
Lrguk T C 6: 34,020,412 (GRCm39) F52S probably damaging Het
Lrrc15 A T 16: 30,092,138 (GRCm39) N400K probably benign Het
Map3k12 A G 15: 102,410,621 (GRCm39) probably benign Het
Mbnl2 C T 14: 120,562,682 (GRCm39) T11I probably damaging Het
Mettl22 T C 16: 8,302,117 (GRCm39) probably benign Het
Mgat4a G A 1: 37,483,979 (GRCm39) A497V probably damaging Het
Mrpl49 C A 19: 6,105,187 (GRCm39) M91I possibly damaging Het
Or2ag18 A T 7: 106,405,416 (GRCm39) D84E probably damaging Het
Or2q1 G A 6: 42,794,527 (GRCm39) V41I probably benign Het
Pcdhb5 T G 18: 37,454,075 (GRCm39) S152A probably benign Het
Ppp1r13b T C 12: 111,824,694 (GRCm39) T102A probably benign Het
Pramel23 T A 4: 143,423,410 (GRCm39) probably benign Het
Prodh2 A G 7: 30,210,628 (GRCm39) D393G probably damaging Het
Pyroxd1 A G 6: 142,296,784 (GRCm39) probably benign Het
Rapgef5 T C 12: 117,577,055 (GRCm39) probably benign Het
Setdb2 A G 14: 59,660,885 (GRCm39) V86A possibly damaging Het
Slc38a2 A T 15: 96,589,092 (GRCm39) probably benign Het
Slc9c1 A G 16: 45,376,132 (GRCm39) Y406C probably damaging Het
Slit1 T C 19: 41,622,653 (GRCm39) D702G probably benign Het
Stat3 T C 11: 100,794,484 (GRCm39) H275R possibly damaging Het
Susd5 T A 9: 113,893,052 (GRCm39) N43K possibly damaging Het
Ttc3 A T 16: 94,186,228 (GRCm39) K124N probably damaging Het
Usp36 C A 11: 118,165,828 (GRCm39) R165L probably damaging Het
Vwf G A 6: 125,619,798 (GRCm39) R1492Q possibly damaging Het
Zbed6 A G 1: 133,585,264 (GRCm39) V691A possibly damaging 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
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
R8950:Rad17 UTSW 13 100,767,576 (GRCm39) missense probably damaging 1.00
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
Posted On 2014-01-21