Incidental Mutation 'R8950:Rad17'
ID |
681591 |
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)
|
Stock # |
R8950 (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 100767576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 342
(S342P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136292
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022136]
[ENSMUST00000177848]
[ENSMUST00000226050]
|
AlphaFold |
Q6NXW6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022136
AA Change: S342P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000022136 Gene: ENSMUSG00000021635 AA Change: S342P
Domain | Start | End | E-Value | Type |
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: S342P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000136292 Gene: ENSMUSG00000021635 AA Change: S342P
Domain | Start | End | E-Value | Type |
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: ENSMUST00000226050
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
T |
C |
7: 119,823,595 (GRCm39) |
F374S |
possibly damaging |
Het |
Abca14 |
T |
A |
7: 119,823,644 (GRCm39) |
Y390* |
probably null |
Het |
Abca9 |
T |
C |
11: 110,054,206 (GRCm39) |
|
probably null |
Het |
Anxa1 |
G |
T |
19: 20,352,662 (GRCm39) |
S304* |
probably null |
Het |
Aspm |
G |
A |
1: 139,406,690 (GRCm39) |
R1859Q |
probably damaging |
Het |
Atp13a5 |
A |
T |
16: 29,197,314 (GRCm39) |
N14K |
probably damaging |
Het |
Bmpr1a |
G |
T |
14: 34,163,148 (GRCm39) |
H81N |
possibly damaging |
Het |
Camkv |
C |
T |
9: 107,824,296 (GRCm39) |
T236I |
probably damaging |
Het |
Carm1 |
T |
A |
9: 21,490,789 (GRCm39) |
M219K |
probably damaging |
Het |
Ccdc162 |
T |
C |
10: 41,474,507 (GRCm39) |
R1352G |
probably benign |
Het |
Cd200l1 |
A |
T |
16: 45,263,007 (GRCm39) |
V44D |
possibly damaging |
Het |
Cib1 |
A |
G |
7: 79,878,211 (GRCm39) |
L89P |
probably damaging |
Het |
Col6a5 |
C |
T |
9: 105,822,833 (GRCm39) |
E175K |
unknown |
Het |
Crebbp |
A |
G |
16: 4,031,023 (GRCm39) |
F22S |
probably damaging |
Het |
Csf2rb |
A |
T |
15: 78,232,520 (GRCm39) |
D609V |
probably benign |
Het |
Csn1s1 |
T |
C |
5: 87,824,482 (GRCm39) |
|
probably null |
Het |
Dchs1 |
A |
T |
7: 105,408,212 (GRCm39) |
H1873Q |
probably benign |
Het |
Dnah1 |
T |
C |
14: 31,012,396 (GRCm39) |
D1901G |
probably damaging |
Het |
Dock10 |
G |
T |
1: 80,519,016 (GRCm39) |
T1235N |
probably benign |
Het |
Eddm3b |
T |
A |
14: 51,354,110 (GRCm39) |
S33T |
probably damaging |
Het |
Fam151b |
A |
T |
13: 92,610,567 (GRCm39) |
M74K |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,476,158 (GRCm39) |
F1735I |
probably damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,863,751 (GRCm39) |
R2508G |
probably benign |
Het |
Fip1l1 |
T |
G |
5: 74,756,524 (GRCm39) |
S505R |
probably damaging |
Het |
Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
Gpr180 |
A |
G |
14: 118,395,452 (GRCm39) |
I295V |
probably benign |
Het |
Gtf3c2 |
G |
A |
5: 31,331,151 (GRCm39) |
T175I |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,244,741 (GRCm39) |
Y733H |
probably damaging |
Het |
Irs1 |
T |
A |
1: 82,264,652 (GRCm39) |
Q1188L |
probably benign |
Het |
Kcnk5 |
T |
C |
14: 20,192,046 (GRCm39) |
R372G |
probably benign |
Het |
Kdm5b |
T |
A |
1: 134,541,664 (GRCm39) |
N746K |
possibly damaging |
Het |
Kdm7a |
T |
C |
6: 39,123,903 (GRCm39) |
I754V |
probably benign |
Het |
Mad2l1bp |
G |
A |
17: 46,458,891 (GRCm39) |
T213I |
possibly damaging |
Het |
Map2 |
G |
T |
1: 66,419,684 (GRCm39) |
R5L |
probably damaging |
Het |
Map4 |
G |
A |
9: 109,901,702 (GRCm39) |
V781M |
possibly damaging |
Het |
Mbd2 |
A |
G |
18: 70,713,864 (GRCm39) |
D231G |
probably damaging |
Het |
Negr1 |
C |
A |
3: 156,721,906 (GRCm39) |
P160Q |
probably damaging |
Het |
Nfya |
A |
T |
17: 48,700,489 (GRCm39) |
|
probably benign |
Het |
Nlk |
T |
C |
11: 78,586,758 (GRCm39) |
Q112R |
probably benign |
Het |
Obscn |
C |
A |
11: 58,947,009 (GRCm39) |
A4339S |
probably damaging |
Het |
Or3a10 |
A |
G |
11: 73,935,782 (GRCm39) |
F106S |
possibly damaging |
Het |
Or5b99 |
A |
T |
19: 12,976,445 (GRCm39) |
I32F |
probably damaging |
Het |
Pcdhb12 |
A |
G |
18: 37,570,590 (GRCm39) |
T579A |
probably benign |
Het |
Pcdhb2 |
G |
A |
18: 37,429,715 (GRCm39) |
V563M |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Piezo1 |
T |
C |
8: 123,208,729 (GRCm39) |
R2545G |
probably benign |
Het |
Plcb1 |
A |
G |
2: 135,179,439 (GRCm39) |
N616D |
probably damaging |
Het |
Pogk |
A |
T |
1: 166,226,394 (GRCm39) |
F586I |
probably damaging |
Het |
Polr1f |
T |
A |
12: 33,483,526 (GRCm39) |
Y93N |
probably damaging |
Het |
Prkg2 |
T |
A |
5: 99,119,815 (GRCm39) |
I435F |
possibly damaging |
Het |
Prrt4 |
T |
C |
6: 29,177,665 (GRCm39) |
T35A |
probably damaging |
Het |
Rpl36-ps4 |
A |
G |
17: 88,228,574 (GRCm39) |
T40A |
probably damaging |
Het |
Skint5 |
T |
C |
4: 113,374,349 (GRCm39) |
T1247A |
unknown |
Het |
Slc22a14 |
A |
G |
9: 118,998,778 (GRCm39) |
L182P |
possibly damaging |
Het |
Slc35b3 |
T |
C |
13: 39,138,097 (GRCm39) |
D104G |
probably damaging |
Het |
Sult2a1 |
A |
G |
7: 13,530,342 (GRCm39) |
F266L |
probably damaging |
Het |
Sult2a2 |
A |
T |
7: 13,467,484 (GRCm39) |
M1L |
probably damaging |
Het |
Tat |
T |
A |
8: 110,718,337 (GRCm39) |
I74N |
probably damaging |
Het |
Trappc6a |
G |
T |
7: 19,249,923 (GRCm39) |
|
probably benign |
Het |
Usp44 |
A |
G |
10: 93,682,129 (GRCm39) |
E193G |
possibly damaging |
Het |
Virma |
C |
T |
4: 11,519,047 (GRCm39) |
Q765* |
probably null |
Het |
Vmn1r46 |
T |
C |
6: 89,954,053 (GRCm39) |
S301P |
probably damaging |
Het |
Vmn2r116 |
A |
T |
17: 23,620,467 (GRCm39) |
I734F |
probably damaging |
Het |
Vmn2r5 |
A |
T |
3: 64,398,522 (GRCm39) |
V819D |
probably damaging |
Het |
Vmn2r74 |
A |
G |
7: 85,606,569 (GRCm39) |
I259T |
probably damaging |
Het |
Vps13a |
A |
G |
19: 16,723,340 (GRCm39) |
I286T |
probably damaging |
Het |
Wdr73 |
T |
C |
7: 80,550,131 (GRCm39) |
I55V |
probably benign |
Het |
Znhit2 |
A |
T |
19: 6,111,803 (GRCm39) |
R183* |
probably null |
Het |
|
Other mutations in Rad17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- TGGGCTGATGACAACAGATAATTC -3'
(R):5'- ATGTTCTACGGTACCTGGGCTG -3'
Sequencing Primer
(F):5'- TTCAATGGCAAAAGACCTGTCTAC -3'
(R):5'- GCTGTGGAAGTTTTTAAGACATTC -3'
|
Posted On |
2021-08-31 |