Incidental Mutation 'R9624:Rad17'
| ID |
725056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad17
|
| Ensembl Gene |
ENSMUSG00000021635 |
| Gene Name |
RAD17 checkpoint clamp loader component |
| Synonyms |
MmRad24, 9430035O09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9624 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
100753672-100787559 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100773503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 162
(N162S)
|
| 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: N162S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: N162S
| 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: N162S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: N162S
| 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 |
silent
Transcript: ENSMUST00000226050
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,509,070 (GRCm39) |
N481I |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,989,846 (GRCm39) |
L3710Q |
unknown |
Het |
| Anapc15-ps |
T |
C |
10: 95,508,965 (GRCm39) |
D105G |
probably benign |
Het |
| Ankfn1 |
T |
C |
11: 89,414,033 (GRCm39) |
N114S |
probably benign |
Het |
| Ankrd27 |
A |
T |
7: 35,301,891 (GRCm39) |
T137S |
possibly damaging |
Het |
| Atp1b3 |
A |
G |
9: 96,222,293 (GRCm39) |
S165P |
probably benign |
Het |
| Atxn7l3 |
T |
C |
11: 102,182,852 (GRCm39) |
D256G |
probably benign |
Het |
| B430305J03Rik |
C |
A |
3: 61,271,408 (GRCm39) |
L112F |
unknown |
Het |
| Bub1 |
A |
T |
2: 127,646,766 (GRCm39) |
I838K |
probably damaging |
Het |
| C3 |
T |
A |
17: 57,527,189 (GRCm39) |
E753D |
probably benign |
Het |
| Cacnb4 |
T |
C |
2: 52,364,942 (GRCm39) |
D107G |
probably benign |
Het |
| Cenpj |
A |
T |
14: 56,802,387 (GRCm39) |
H59Q |
probably benign |
Het |
| Cxxc1 |
A |
T |
18: 74,352,512 (GRCm39) |
H364L |
possibly damaging |
Het |
| Dapk1 |
T |
C |
13: 60,895,937 (GRCm39) |
I675T |
probably benign |
Het |
| Eln |
A |
G |
5: 134,738,991 (GRCm39) |
S663P |
unknown |
Het |
| Epha8 |
G |
T |
4: 136,659,065 (GRCm39) |
P863Q |
probably damaging |
Het |
| Erich6 |
G |
T |
3: 58,536,766 (GRCm39) |
T278N |
possibly damaging |
Het |
| Fam47e |
G |
C |
5: 92,726,395 (GRCm39) |
R111P |
probably benign |
Het |
| Fam83g |
C |
T |
11: 61,575,328 (GRCm39) |
|
probably benign |
Het |
| Fanci |
A |
T |
7: 79,085,117 (GRCm39) |
I848L |
probably benign |
Het |
| Foxj3 |
T |
A |
4: 119,483,589 (GRCm39) |
D620E |
unknown |
Het |
| Gm14443 |
T |
A |
2: 175,012,129 (GRCm39) |
N106Y |
possibly damaging |
Het |
| Gm17654 |
T |
C |
14: 43,815,492 (GRCm39) |
D105G |
|
Het |
| Gps1 |
C |
A |
11: 120,677,434 (GRCm39) |
A216D |
probably damaging |
Het |
| Hs3st3b1 |
T |
C |
11: 63,780,110 (GRCm39) |
K339R |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,719,219 (GRCm39) |
T396A |
probably damaging |
Het |
| Lratd2 |
A |
T |
15: 60,694,993 (GRCm39) |
I251N |
probably damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,497,586 (GRCm39) |
I135V |
probably benign |
Het |
| Mylk |
C |
A |
16: 34,699,677 (GRCm39) |
Q347K |
probably benign |
Het |
| Myo1e |
A |
G |
9: 70,303,156 (GRCm39) |
Y1059C |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Or10d1b |
A |
G |
9: 39,613,822 (GRCm39) |
F81S |
probably benign |
Het |
| Or10j3 |
A |
T |
1: 173,031,672 (GRCm39) |
I250F |
probably benign |
Het |
| Or2y1 |
T |
A |
11: 49,385,834 (GRCm39) |
I158N |
possibly damaging |
Het |
| Or6c33 |
T |
C |
10: 129,853,866 (GRCm39) |
V212A |
possibly damaging |
Het |
| Or8g23 |
T |
A |
9: 38,971,453 (GRCm39) |
N170Y |
probably benign |
Het |
| Or8g30 |
G |
T |
9: 39,230,848 (GRCm39) |
Q21K |
probably benign |
Het |
| Piezo2 |
G |
A |
18: 63,197,767 (GRCm39) |
P1590S |
possibly damaging |
Het |
| Prl7a2 |
T |
A |
13: 27,849,869 (GRCm39) |
K68* |
probably null |
Het |
| Prss33 |
A |
G |
17: 24,054,656 (GRCm39) |
V14A |
probably benign |
Het |
| Sbf2 |
A |
T |
7: 109,963,857 (GRCm39) |
V1042E |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,153,766 (GRCm39) |
M689K |
probably benign |
Het |
| Senp7 |
A |
T |
16: 55,990,075 (GRCm39) |
I608F |
probably damaging |
Het |
| Sh2b1 |
AGCTCAGCCACGGGGAC |
AGCTCAGCCACGGGGACACGCTCAGCCACGGGGAC |
7: 126,066,750 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GGGACCAGCTCAGCCACG |
GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG |
7: 126,066,744 (GRCm39) |
|
probably benign |
Het |
| Slc38a3 |
A |
G |
9: 107,532,510 (GRCm39) |
V370A |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,228,690 (GRCm39) |
I307V |
possibly damaging |
Het |
| Spata13 |
C |
T |
14: 60,944,349 (GRCm39) |
P581S |
probably benign |
Het |
| Spindoc |
G |
A |
19: 7,352,197 (GRCm39) |
T50M |
probably benign |
Het |
| Sppl2b |
T |
A |
10: 80,699,373 (GRCm39) |
F269Y |
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,863,345 (GRCm39) |
V2114M |
|
Het |
| Tcerg1l |
A |
G |
7: 137,995,923 (GRCm39) |
V195A |
possibly damaging |
Het |
| Tent4a |
A |
T |
13: 69,651,787 (GRCm39) |
W545R |
probably damaging |
Het |
| Tmem128 |
G |
T |
5: 38,422,236 (GRCm39) |
R105L |
possibly damaging |
Het |
| Tns3 |
G |
A |
11: 8,401,142 (GRCm39) |
T1052M |
possibly damaging |
Het |
| Vmn1r194 |
T |
A |
13: 22,428,671 (GRCm39) |
I96N |
probably damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn1r78 |
G |
A |
7: 11,886,410 (GRCm39) |
S7N |
probably benign |
Het |
| Wapl |
T |
A |
14: 34,414,063 (GRCm39) |
N308K |
possibly damaging |
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 |
|
|
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 |
|
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'- TGCTCTTTCTCGTCAAACTGA -3'
(R):5'- AACCCCGTGCCTTTTGTTTAG -3'
Sequencing Primer
(F):5'- TCAAACTGACACGTCCGGGAG -3'
(R):5'- CCGTGCCTTTTGTTTAGCTAAAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation