Incidental Mutation 'IGL02541:Rad17'
ID298256
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rad17
Ensembl Gene ENSMUSG00000021635
Gene NameRAD17 checkpoint clamp loader component
SynonymsMmRad24, 9430035O09Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02541
Quality Score
Status
Chromosome13
Chromosomal Location100617164-100651051 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 100633443 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022136] [ENSMUST00000177848] [ENSMUST00000226050]
Predicted Effect probably benign
Transcript: ENSMUST00000022136
SMART Domains Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635

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
SMART Domains Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635

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
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,514,658 L917F possibly damaging Het
Abca6 A T 11: 110,212,267 W833R probably damaging Het
Asb15 T A 6: 24,566,266 V406D probably damaging Het
Bcl9l T C 9: 44,507,769 V968A probably benign Het
Bend7 T C 2: 4,763,305 probably null Het
Cadm2 C A 16: 66,882,883 probably null Het
Cadm2 C A 16: 66,882,882 G21V possibly damaging Het
Camta1 G A 4: 151,084,655 T1191I probably benign Het
Cep152 C T 2: 125,605,354 A425T probably damaging Het
Cep95 C A 11: 106,815,581 Q554K probably damaging Het
Cgref1 A G 5: 30,934,158 probably null Het
Clock T A 5: 76,262,672 probably null Het
Cmc2 A G 8: 116,894,144 F33L probably benign Het
Cnksr3 A G 10: 7,135,073 V258A probably damaging Het
Col6a6 G T 9: 105,732,216 N1624K probably benign Het
Cped1 T C 6: 22,120,989 I356T probably benign Het
Dpy19l2 C T 9: 24,658,647 V337I probably benign Het
E2f3 A T 13: 29,916,844 probably null Het
Eif1ad A G 19: 5,368,417 probably benign Het
Fam114a2 A T 11: 57,499,801 D302E probably benign Het
Fam129c A T 8: 71,602,782 T279S probably benign Het
Fign T C 2: 63,979,537 N463S probably benign Het
Fzr1 T C 10: 81,370,033 T220A probably damaging Het
Gm14496 G A 2: 182,000,393 R619Q probably benign Het
Gm9268 T A 7: 43,023,668 probably benign Het
Gm9966 T C 7: 95,958,784 I104T unknown Het
Itgb7 G T 15: 102,223,457 H230Q probably benign Het
Kif7 T C 7: 79,710,880 H249R possibly damaging Het
Krtap4-2 T G 11: 99,634,966 Q20P unknown Het
Mis18bp1 T C 12: 65,161,460 T160A probably damaging Het
Mpp6 A G 6: 50,183,727 I323V probably benign Het
Mrps9 T C 1: 42,862,654 probably null Het
Mum1 G A 10: 80,228,439 probably null Het
Mynn T A 3: 30,611,603 H461Q probably damaging Het
Naa25 A G 5: 121,424,531 T459A possibly damaging Het
Notch1 C T 2: 26,468,503 D1439N probably benign Het
Olfr701 A G 7: 106,818,602 E173G probably benign Het
Pcdhb3 A T 18: 37,302,145 D388V probably damaging Het
Pold3 C T 7: 100,083,672 G417S probably damaging Het
Sh3glb1 T C 3: 144,720,040 D5G probably damaging Het
Shank3 T A 15: 89,501,410 Y167N probably damaging Het
Slc3a2 A T 19: 8,707,759 Y292* probably null Het
Slc7a13 T A 4: 19,839,212 probably benign Het
Snx18 A T 13: 113,594,766 I564N probably damaging Het
Supt6 G A 11: 78,226,918 R491C probably damaging Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tnrc6b C A 15: 80,879,831 D511E probably benign Het
Trio A G 15: 27,844,930 probably benign Het
Trmt12 T A 15: 58,873,802 W350R probably benign Het
Ttc1 T C 11: 43,738,821 T173A probably benign Het
Ttc39d C A 17: 80,216,446 T178K probably damaging Het
Ufl1 T A 4: 25,250,534 E693V possibly damaging Het
Vamp2 G T 11: 69,089,151 E16D unknown Het
Wdr70 C T 15: 7,884,302 W622* probably null Het
Zfp28 C T 7: 6,393,480 Q305* probably null Het
Zfp653 C A 9: 22,055,783 R602L probably damaging Het
Zzef1 T A 11: 72,872,649 V1374E probably damaging Het
Other mutations in Rad17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Rad17 APN 13 100629525 missense probably benign 0.03
IGL00422:Rad17 APN 13 100629523 missense probably damaging 0.98
IGL00478:Rad17 APN 13 100633274 missense probably damaging 1.00
IGL01328:Rad17 APN 13 100617803 missense probably benign
IGL01720:Rad17 APN 13 100622858 missense possibly damaging 0.51
IGL01874:Rad17 APN 13 100617684 utr 3 prime probably benign
IGL02305:Rad17 APN 13 100633862 critical splice donor site probably null
R0678:Rad17 UTSW 13 100645184 missense possibly damaging 0.73
R1079:Rad17 UTSW 13 100633899 missense probably benign 0.01
R1422:Rad17 UTSW 13 100645082 missense probably benign 0.18
R1730:Rad17 UTSW 13 100622806 missense probably damaging 0.97
R3946:Rad17 UTSW 13 100622863 missense possibly damaging 0.70
R4577:Rad17 UTSW 13 100633278 missense probably damaging 1.00
R4735:Rad17 UTSW 13 100619129 missense probably damaging 0.98
R5023:Rad17 UTSW 13 100645063 missense possibly damaging 0.88
R5098:Rad17 UTSW 13 100617646 makesense probably null
R5222:Rad17 UTSW 13 100633891 missense possibly damaging 0.53
R5511:Rad17 UTSW 13 100627649 missense possibly damaging 0.82
R5536:Rad17 UTSW 13 100631104 missense probably damaging 1.00
R5887:Rad17 UTSW 13 100633861 critical splice donor site probably null
R6041:Rad17 UTSW 13 100617766 missense probably benign 0.01
R6173:Rad17 UTSW 13 100622881 missense probably benign
R6342:Rad17 UTSW 13 100619136 missense probably damaging 1.00
R6465:Rad17 UTSW 13 100637080 missense probably benign 0.34
R6730:Rad17 UTSW 13 100649745 start gained probably benign
R6890:Rad17 UTSW 13 100637084 missense probably benign 0.34
R6947:Rad17 UTSW 13 100622875 missense probably damaging 1.00
R7035:Rad17 UTSW 13 100627625 missense possibly damaging 0.78
R7113:Rad17 UTSW 13 100629517 missense probably benign 0.03
R7408:Rad17 UTSW 13 100629511 nonsense probably null
R7553:Rad17 UTSW 13 100633286 missense probably damaging 1.00
R7573:Rad17 UTSW 13 100629466 missense probably damaging 0.99
RF022:Rad17 UTSW 13 100637085 missense probably damaging 1.00
Z1176:Rad17 UTSW 13 100627632 missense probably benign 0.05
Posted On2015-04-16