Incidental Mutation 'RF022:Rad17'
ID 603958
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 # RF022 (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 100773593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 132 (L132S)
Ref Sequence ENSEMBL: ENSMUSP00000022136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022136] [ENSMUST00000177848] [ENSMUST00000226050]
AlphaFold Q6NXW6
Predicted Effect probably damaging
Transcript: ENSMUST00000022136
AA Change: L132S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: L132S

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: L132S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: L132S

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 silent
Transcript: ENSMUST00000226050
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik GTACT GTACTACT 12: 110,634,877 (GRCm39) probably null Het
Acap3 CCTGGGCTGCTG CCTGGGCTGCTGCATACTGGGCTGCTG 4: 155,989,553 (GRCm39) probably benign Het
Adam6b A T 12: 113,455,289 (GRCm39) E702V possibly damaging Het
Arpc3 A G 5: 122,538,489 (GRCm39) T7A probably benign Het
Bcl3 G A 7: 19,542,966 (GRCm39) P393L probably damaging Het
Ceacam9 A G 7: 16,459,304 (GRCm39) D201G possibly damaging Het
Chga AGC AGCCGC 12: 102,527,679 (GRCm39) probably benign Het
Clgn A G 8: 84,152,235 (GRCm39) K579R probably damaging Het
Cntnap2 C T 6: 46,998,599 (GRCm39) R884W probably damaging Het
Col6a4 A T 9: 105,954,207 (GRCm39) D377E probably damaging Het
Cort GCCCACTCGT G 4: 149,209,869 (GRCm39) probably benign Het
D5Ertd579e A C 5: 36,772,006 (GRCm39) I796M probably damaging Het
Dmkn GGTGGAAGTGGTGGAAG GGTGGAAGTGGTGGAAGAGGTGGAAGTCGTGGAAGTGGTGGAAG 7: 30,466,600 (GRCm39) probably benign Het
Dpagt1 G T 9: 44,243,262 (GRCm39) V266L possibly damaging Het
Ebf3 C A 7: 136,915,671 (GRCm39) probably benign Het
Exd2 AGCAGCCGCAGCC AGCAGCC 12: 80,522,691 (GRCm39) probably benign Het
Flywch1 CACTCCTGGTGT CACTCCTGGTGTGGGGAGGCTACGTACTCACCAACTCCTGGTGT 17: 23,981,141 (GRCm39) probably null Het
Gab3 CTT CTTATT X: 74,043,600 (GRCm39) probably null Het
Golga4 A G 9: 118,387,057 (GRCm39) D1393G probably damaging Het
Gpc5 G A 14: 115,789,688 (GRCm39) V521I probably damaging Het
Grik1 A T 16: 87,693,225 (GRCm39) N859K Het
Insrr G A 3: 87,711,792 (GRCm39) A511T possibly damaging Het
Isx A G 8: 75,600,474 (GRCm39) D69G probably damaging Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Lkaaear1 CAGCTCCAG CAGCTCCAGGTCGAGCTCCAG 2: 181,339,370 (GRCm39) probably benign Het
Lrch1 TTGGTGGTGCTGGTGG TTGGTGG 14: 75,185,014 (GRCm39) probably benign Het
Magel2 A G 7: 62,029,841 (GRCm39) E915G unknown Het
Maml3 A G 3: 51,764,083 (GRCm39) S294P probably damaging Het
Mamld1 AGC AGCCGC X: 70,162,426 (GRCm39) probably benign Het
Mef2d A T 3: 88,075,574 (GRCm39) T486S probably benign Het
Ms4a8a A G 19: 11,053,689 (GRCm39) V139A possibly damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or2z8 T G 8: 72,812,468 (GRCm39) *315G probably null Het
Pdik1l GTTTTTGTTTT GTTTTTGTTTTTTTTTTGTTTT 4: 134,006,678 (GRCm39) probably null Het
Pnma8a TCATGATGCACCTGCTTCAACATC TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC 7: 16,695,352 (GRCm39) probably benign Het
Ppfibp2 T C 7: 107,296,817 (GRCm39) L177P probably damaging Het
Ppp1r13l ACAGGCACCCTGCTCCGGC AC 7: 19,102,467 (GRCm39) probably benign Het
Ptprh A G 7: 4,552,367 (GRCm39) F966L probably benign Het
Raph1 GG GGGGG 1: 60,528,426 (GRCm39) probably benign Het
Rnf126 AGGACGAGG AG 10: 79,594,977 (GRCm39) probably null Het
Rwdd2b C T 16: 87,233,558 (GRCm39) A181T probably benign Het
Sh3pxd2b GCCTGT GCCTGTTCCTGT 11: 32,373,054 (GRCm39) probably benign Het
Six3 CGG CGGTGG 17: 85,928,784 (GRCm39) probably benign Het
Sla C T 15: 66,654,593 (GRCm39) G231D probably benign Het
Tcof1 CAG CAGTAG 18: 60,968,807 (GRCm39) probably benign Het
Tfeb GCA GCAACA 17: 48,097,019 (GRCm39) probably benign Het
Tgm5 T A 2: 120,902,092 (GRCm39) E192D probably damaging Het
Tmem123 A G 9: 7,791,414 (GRCm39) Y171C probably damaging Het
Tnrc18 G A 5: 142,759,385 (GRCm39) A999V Het
Triobp C T 15: 78,858,482 (GRCm39) P1361L probably benign Het
Ubac1 A T 2: 25,895,470 (GRCm39) W328R probably damaging Het
Ube2q1 A G 3: 89,688,200 (GRCm39) N324S probably benign Het
Zcchc2 T C 1: 105,939,472 (GRCm39) I407T possibly damaging Het
Zfp384 GCCCAGGCCCAGGCCCAGGCCCAG GCCCAGGCCCAGCCCCAGGCCCAGGCCCAGGCCCAG 6: 125,013,434 (GRCm39) probably benign 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
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
Z1176:Rad17 UTSW 13 100,764,140 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TCAGCGCCTTCCAAGTAAAC -3'
(R):5'- CCCGTGCCTTTTGTTTAGCTAAAG -3'

Sequencing Primer
(F):5'- GCGCCTTCCAAGTAAACTTACC -3'
(R):5'- GAAGAAAACAATCCTCTCAGATC -3'
Posted On 2019-12-04