Incidental Mutation 'IGL01328:Rad17'
ID74401
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 #IGL01328
Quality Score
Status
Chromosome13
Chromosomal Location100617164-100651051 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 100617803 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 636 (N636K)
Ref Sequence ENSEMBL: ENSMUSP00000136292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022136] [ENSMUST00000022137] [ENSMUST00000163163] [ENSMUST00000168772] [ENSMUST00000177848] [ENSMUST00000225754] [ENSMUST00000226050]
Predicted Effect probably benign
Transcript: ENSMUST00000022136
AA Change: N636K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: N636K

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: ENSMUST00000022137
SMART Domains Protein: ENSMUSP00000022137
Gene: ENSMUSG00000021636

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 46 57 N/A INTRINSIC
Pfam:MARVEL 182 358 4.1e-20 PFAM
low complexity region 423 434 N/A INTRINSIC
Pfam:Occludin_ELL 443 545 2.7e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163163
SMART Domains Protein: ENSMUSP00000129990
Gene: ENSMUSG00000021636

DomainStartEndE-ValueType
low complexity region 25 53 N/A INTRINSIC
low complexity region 146 157 N/A INTRINSIC
Pfam:Occludin_ELL 166 268 4.2e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168772
SMART Domains Protein: ENSMUSP00000126438
Gene: ENSMUSG00000021636

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 46 57 N/A INTRINSIC
Pfam:MARVEL 182 358 3.6e-20 PFAM
low complexity region 423 434 N/A INTRINSIC
Pfam:Occludin_ELL 443 545 6.6e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177848
AA Change: N636K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: N636K

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: ENSMUST00000225754
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 C T 18: 59,048,882 S1131F possibly damaging Het
Alg14 G A 3: 121,361,583 V151I probably benign Het
Ano5 G A 7: 51,556,271 probably null Het
Arhgef28 A T 13: 97,970,323 C698S probably damaging Het
Cacnb4 T C 2: 52,464,625 H247R probably damaging Het
Clec12b A T 6: 129,379,554 W216R probably damaging Het
Clnk C T 5: 38,784,528 S35N possibly damaging Het
Cnot4 T A 6: 35,078,114 N80I probably damaging Het
Cntn5 C T 9: 9,781,768 M635I probably damaging Het
Dlg5 A G 14: 24,202,351 V107A probably damaging Het
Dsc2 A T 18: 20,048,286 F155I probably damaging Het
Dtwd1 A G 2: 126,164,819 I254V probably damaging Het
Dzip3 A T 16: 48,972,258 D221E probably damaging Het
F13b T A 1: 139,508,082 probably benign Het
Fam131b G A 6: 42,318,272 L324F probably damaging Het
Fam83a A T 15: 57,986,505 R148S probably damaging Het
Farsb T C 1: 78,471,092 I236V probably benign Het
Fat4 T A 3: 38,980,658 F2820I probably damaging Het
Fat4 T A 3: 38,889,991 V1011E probably damaging Het
Fgf7 A G 2: 126,088,244 E99G probably damaging Het
Fign T C 2: 63,978,872 T685A probably damaging Het
Fubp1 G A 3: 152,220,218 G289E probably damaging Het
Gata6 G T 18: 11,064,530 M477I probably damaging Het
Gm14496 A G 2: 181,995,880 Y249C probably damaging Het
Hectd1 T C 12: 51,761,121 D1768G probably damaging Het
Htatip2 T A 7: 49,770,949 probably null Het
Irs2 C A 8: 11,004,792 Q1213H probably damaging Het
Jak3 C T 8: 71,679,620 R210C probably damaging Het
Klk1b27 T C 7: 44,055,879 S157P probably damaging Het
Klri1 T C 6: 129,698,837 S157G probably damaging Het
Mtmr2 G T 9: 13,801,927 G395* probably null Het
Mx1 T A 16: 97,455,632 I116F probably damaging Het
Oip5 A C 2: 119,611,833 M200R possibly damaging Het
Olfr1118 T A 2: 87,309,581 L284Q possibly damaging Het
Olfr1285 A G 2: 111,409,219 Y268C probably damaging Het
Olfr1512 T C 14: 52,372,510 D181G probably damaging Het
Olfr32 T C 2: 90,139,074 K22E probably benign Het
Pamr1 T A 2: 102,642,137 S594T probably benign Het
Phf13 C T 4: 151,995,828 E13K probably benign Het
Plekha6 A T 1: 133,272,336 probably null Het
Rad21 T A 15: 51,973,124 D217V probably damaging Het
Slc7a10 A G 7: 35,186,492 D4G possibly damaging Het
Stc1 A G 14: 69,038,277 D173G probably benign Het
Supt16 C T 14: 52,177,032 E438K probably benign Het
Tex15 C T 8: 33,571,396 Q559* probably null Het
Trim44 T A 2: 102,400,020 E222V probably benign Het
Ubr5 T C 15: 37,981,523 E2343G possibly damaging Het
Vmn2r86 T C 10: 130,452,496 T379A possibly damaging Het
Vmn2r93 A G 17: 18,325,557 T564A probably benign Het
Vsir C A 10: 60,367,760 probably benign Het
Vwc2l T A 1: 70,729,004 probably null Het
Xrn2 T C 2: 147,029,930 V396A possibly damaging Het
Zbbx T A 3: 75,093,075 K208* probably null Het
Zfhx4 C A 3: 5,244,284 L857M probably damaging Het
Zfp180 A G 7: 24,101,479 D53G probably benign 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
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
IGL02541:Rad17 APN 13 100633443 splice site probably benign
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
Posted On2013-10-07