Incidental Mutation 'R6465:Rad17'
ID 517792
Institutional Source Beutler Lab
Gene Symbol Rad17
Ensembl Gene ENSMUSG00000021635
Gene Name RAD17 checkpoint clamp loader component
Synonyms MmRad24, 9430035O09Rik
MMRRC Submission 044598-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6465 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 100753672-100787559 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100773588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 202 (N202I)
Ref Sequence ENSEMBL: ENSMUSP00000152977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022136] [ENSMUST00000177848] [ENSMUST00000226050]
AlphaFold Q6NXW6
Predicted Effect probably benign
Transcript: ENSMUST00000022136
AA Change: I134L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: I134L

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: ENSMUST00000177848
AA Change: I134L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: I134L

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: ENSMUST00000225155
Predicted Effect probably benign
Transcript: ENSMUST00000226050
AA Change: N202I

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 95% (40/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G A 6: 128,518,041 (GRCm39) T1415I probably damaging Het
Acvr2b T A 9: 119,262,369 (GRCm39) W461R probably damaging Het
Adam23 G T 1: 63,605,827 (GRCm39) C637F probably damaging Het
Apol8 T G 15: 77,634,148 (GRCm39) T143P probably benign Het
Bfsp1 A C 2: 143,699,975 (GRCm39) probably null Het
Cytl1 T C 5: 37,895,014 (GRCm39) V99A probably benign Het
Dock2 A T 11: 34,453,413 (GRCm39) V793E probably damaging Het
Fxyd5 G T 7: 30,737,305 (GRCm39) T81K probably damaging Het
Gcm1 A G 9: 77,972,151 (GRCm39) Y364C probably damaging Het
Get3 A T 8: 85,745,194 (GRCm39) M291K probably benign Het
Haghl T C 17: 26,002,793 (GRCm39) N190S possibly damaging Het
Inpp5j C A 11: 3,452,293 (GRCm39) R319L possibly damaging Het
Ints10 A G 8: 69,260,188 (GRCm39) N304S probably benign Het
Isoc1 T A 18: 58,804,328 (GRCm39) C119S probably damaging Het
Klhl18 A G 9: 110,257,988 (GRCm39) M414T probably benign Het
Krtap2-4 A G 11: 99,505,585 (GRCm39) probably benign Het
Krtap3-1 G A 11: 99,457,277 (GRCm39) P45S possibly damaging Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Myo7a A G 7: 97,711,887 (GRCm39) V1754A possibly damaging Het
Nedd4l T A 18: 65,288,335 (GRCm39) D119E probably benign Het
Nsun7 T C 5: 66,452,929 (GRCm39) V548A probably benign Het
Or5m12 A T 2: 85,734,883 (GRCm39) S172T probably benign Het
Or6b6 A T 7: 106,571,419 (GRCm39) V44E possibly damaging Het
Parvg A G 15: 84,213,141 (GRCm39) D127G probably damaging Het
Pate13 A T 9: 35,819,921 (GRCm39) N25Y possibly damaging Het
Piezo2 T A 18: 63,174,734 (GRCm39) M2007L possibly damaging Het
Pou2f3 A C 9: 43,051,162 (GRCm39) F175V probably damaging Het
Ptprn2 T C 12: 117,233,209 (GRCm39) I958T probably damaging Het
Pwwp2b T C 7: 138,835,951 (GRCm39) V464A probably benign Het
Pzp A G 6: 128,468,582 (GRCm39) Y982H probably damaging Het
Rtel1 T A 2: 180,977,733 (GRCm39) D271E possibly damaging Het
Sos2 T C 12: 69,643,549 (GRCm39) S943G probably benign Het
Tdpoz6 A G 3: 93,600,303 (GRCm39) I22T probably damaging Het
Tm9sf2 A G 14: 122,378,619 (GRCm39) H241R probably benign Het
Ttc8 A G 12: 98,930,829 (GRCm39) E291G probably damaging Het
Unc93a2 G T 17: 7,641,842 (GRCm39) T202K probably damaging Het
Wfikkn1 A G 17: 26,097,692 (GRCm39) C211R probably damaging Het
Ylpm1 T A 12: 85,096,576 (GRCm39) D1219E probably damaging Het
Zc3hav1 T C 6: 38,308,784 (GRCm39) Y586C possibly damaging Het
Zcchc4 T A 5: 52,976,618 (GRCm39) F471I probably benign Het
Zfp719 C A 7: 43,240,108 (GRCm39) Y565* 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
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
Predicted Primers PCR Primer
(F):5'- ATCCTTCAGCGCCTTCCAAG -3'
(R):5'- AAACCCCGTGCCTTTTGTTTAG -3'

Sequencing Primer
(F):5'- TTCAGCGCCTTCCAAGTAAACTTAC -3'
(R):5'- CCGTGCCTTTTGTTTAGCTAAAG -3'
Posted On 2018-05-21