Incidental Mutation 'R3946:Rad17'
ID 307728
Institutional Source Beutler Lab
Gene Symbol Rad17
Ensembl Gene ENSMUSG00000021635
Gene Name RAD17 checkpoint clamp loader component
Synonyms MmRad24, 9430035O09Rik
MMRRC Submission 040827-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3946 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 100753672-100787559 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 100759371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 552 (A552V)
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: A552V

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: A552V

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: A552V

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: A552V

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
Meta Mutation Damage Score 0.4362 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 98% (60/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,492,913 (GRCm39) Q328R probably damaging Het
Agr3 C A 12: 35,997,512 (GRCm39) probably benign Het
Brca2 T A 5: 150,460,169 (GRCm39) S481R probably damaging Het
Cabin1 T G 10: 75,581,093 (GRCm39) Q411P probably damaging Het
Calr3 A G 8: 73,197,464 (GRCm39) Y22H probably damaging Het
Caprin1 T A 2: 103,627,111 (GRCm39) I59F probably damaging Het
Cdk5rap1 T C 2: 154,190,636 (GRCm39) T442A probably damaging Het
Chn2 T C 6: 54,246,411 (GRCm39) probably benign Het
Cic C A 7: 24,971,771 (GRCm39) R501S possibly damaging Het
Coch A G 12: 51,648,595 (GRCm39) probably null Het
Defa25 G A 8: 21,574,506 (GRCm39) V17I probably null Het
Dglucy T C 12: 100,804,959 (GRCm39) probably null Het
Dtx1 T G 5: 120,819,351 (GRCm39) T616P possibly damaging Het
Eef1g T C 19: 8,947,341 (GRCm39) L171P probably benign Het
Fam135a A G 1: 24,069,475 (GRCm39) S465P probably damaging Het
Gm14412 A T 2: 177,006,478 (GRCm39) C472* probably null Het
Gm7104 T C 12: 88,252,812 (GRCm39) noncoding transcript Het
Got2 A G 8: 96,614,858 (GRCm39) S26P probably benign Het
H2-M11 A G 17: 36,860,123 (GRCm39) I329M probably damaging Het
Hmcn2 T A 2: 31,272,406 (GRCm39) D1295E possibly damaging Het
Hoxd12 G T 2: 74,505,771 (GRCm39) R114L probably damaging Het
Ilkap A C 1: 91,314,972 (GRCm39) D124E probably damaging Het
Maco1 A G 4: 134,531,792 (GRCm39) Y626H probably damaging Het
Med6 T C 12: 81,628,625 (GRCm39) Y88C probably damaging Het
Mep1a A T 17: 43,785,932 (GRCm39) L719* probably null Het
Mmp23 T C 4: 155,736,480 (GRCm39) Y187C probably damaging Het
Myo1g A G 11: 6,470,760 (GRCm39) M32T possibly damaging Het
Ncstn T C 1: 171,895,061 (GRCm39) E614G probably benign Het
Nr2c2 C T 6: 92,140,119 (GRCm39) R464W probably damaging Het
Or4f15 G A 2: 111,813,642 (GRCm39) T259M possibly damaging Het
Otub2 T A 12: 103,359,085 (GRCm39) L58* probably null Het
Pcdhga12 G A 18: 37,900,682 (GRCm39) V505I probably benign Het
Pcdhga9 T A 18: 37,870,897 (GRCm39) V242D probably damaging Het
Pex1 C T 5: 3,676,084 (GRCm39) L891F probably damaging Het
Pgm2 C T 5: 64,269,404 (GRCm39) T497I probably benign Het
Pikfyve T C 1: 65,235,840 (GRCm39) F171L probably damaging Het
Pilrb1 T G 5: 137,855,654 (GRCm39) K79T probably benign Het
Pin1 C T 9: 20,566,660 (GRCm39) R21W probably damaging Het
Prxl2c T C 13: 64,456,912 (GRCm39) I104V probably damaging Het
Ptprq A G 10: 107,522,253 (GRCm39) probably benign Het
Rbbp8 A G 18: 11,851,925 (GRCm39) T249A probably benign Het
Rtkn A T 6: 83,112,957 (GRCm39) I10F probably benign Het
Scube2 T A 7: 109,456,797 (GRCm39) I103F possibly damaging Het
Sec23b A G 2: 144,423,893 (GRCm39) H514R probably benign Het
Serbp1 T A 6: 67,249,204 (GRCm39) D223E probably benign Het
Slc14a1 C A 18: 78,154,607 (GRCm39) V260L probably benign Het
Slc22a23 A G 13: 34,367,109 (GRCm39) I633T probably damaging Het
Stk19 A T 17: 35,043,723 (GRCm39) probably benign Het
Svs5 T C 2: 164,079,047 (GRCm39) M287V probably benign Het
Syne3 T A 12: 104,924,325 (GRCm39) Q358L probably damaging Het
Synj1 A G 16: 90,806,984 (GRCm39) F58L possibly damaging Het
Tg T C 15: 66,545,872 (GRCm39) V198A probably damaging Het
Tle4 A T 19: 14,574,752 (GRCm39) Y9N probably damaging Het
Tmx3 G A 18: 90,542,459 (GRCm39) A186T possibly damaging Het
Traf3 G A 12: 111,221,679 (GRCm39) S280N possibly damaging Het
Trmt13 A G 3: 116,375,167 (GRCm39) F447S probably damaging Het
Trp53bp1 T A 2: 121,059,107 (GRCm39) H918L probably damaging Het
Ush2a T G 1: 188,460,701 (GRCm39) V2654G probably benign Het
Vinac1 A G 2: 128,881,521 (GRCm39) L135P probably damaging Het
Vmn2r25 A G 6: 123,817,057 (GRCm39) Y175H probably damaging Het
Zfp335 T C 2: 164,734,109 (GRCm39) D1330G probably 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
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
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
Predicted Primers PCR Primer
(F):5'- AAATGACACTGGGTTGCCA -3'
(R):5'- GCCAGACCCAAAGTATTAATGAACT -3'

Sequencing Primer
(F):5'- TGGCTCAGCTGTTAAGAACG -3'
(R):5'- GTCCCAGAACTTGATGTGTAGACC -3'
Posted On 2015-04-17