Incidental Mutation 'R5511:Rad17'
| ID |
431250 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad17
|
| Ensembl Gene |
ENSMUSG00000021635 |
| Gene Name |
RAD17 checkpoint clamp loader component |
| Synonyms |
MmRad24, 9430035O09Rik |
| MMRRC Submission |
043072-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5511 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
100753672-100787559 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100764157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 438
(V438A)
|
| 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: V438A
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: V438A
| 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 |
possibly damaging
Transcript: ENSMUST00000177848
AA Change: V438A
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: V438A
| 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 |
noncoding transcript
Transcript: ENSMUST00000225155
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225428
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226050
|
| Meta Mutation Damage Score |
0.0999 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.1%
- 20x: 90.3%
|
| Validation Efficiency |
98% (81/83) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
C |
3: 59,654,685 (GRCm39) |
L173P |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,582,209 (GRCm39) |
V271D |
possibly damaging |
Het |
| Alox15 |
G |
T |
11: 70,240,808 (GRCm39) |
P191T |
probably benign |
Het |
| Apaf1 |
T |
C |
10: 90,890,254 (GRCm39) |
Y583C |
probably damaging |
Het |
| Aqp9 |
T |
A |
9: 71,070,375 (GRCm39) |
|
probably benign |
Het |
| Bms1 |
A |
G |
6: 118,365,848 (GRCm39) |
F1113L |
possibly damaging |
Het |
| Cap1 |
A |
C |
4: 122,756,583 (GRCm39) |
|
probably benign |
Het |
| Car11 |
T |
C |
7: 45,349,885 (GRCm39) |
W35R |
probably damaging |
Het |
| Casc3 |
T |
A |
11: 98,701,740 (GRCm39) |
Y91* |
probably null |
Het |
| Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
| Cd22 |
A |
T |
7: 30,569,496 (GRCm39) |
I540N |
probably damaging |
Het |
| Chad |
A |
T |
11: 94,456,072 (GRCm39) |
E50V |
probably damaging |
Het |
| Chd3 |
C |
G |
11: 69,252,301 (GRCm39) |
G34R |
probably damaging |
Het |
| Col9a1 |
T |
C |
1: 24,218,619 (GRCm39) |
V77A |
unknown |
Het |
| Copg1 |
G |
A |
6: 87,889,276 (GRCm39) |
V873M |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,363,363 (GRCm39) |
V3975E |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,728,703 (GRCm39) |
V1290D |
possibly damaging |
Het |
| Elp2 |
A |
T |
18: 24,745,507 (GRCm39) |
K150* |
probably null |
Het |
| Eri3 |
A |
C |
4: 117,472,386 (GRCm39) |
Y260S |
possibly damaging |
Het |
| Esrrg |
C |
T |
1: 187,943,304 (GRCm39) |
L426F |
probably damaging |
Het |
| Farp1 |
G |
T |
14: 121,474,584 (GRCm39) |
V266L |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,458,897 (GRCm39) |
E2459G |
probably damaging |
Het |
| Glis1 |
G |
A |
4: 107,293,074 (GRCm39) |
D66N |
probably damaging |
Het |
| Gm14129 |
T |
A |
2: 148,773,446 (GRCm39) |
|
noncoding transcript |
Het |
| Gm28051 |
A |
G |
12: 102,686,415 (GRCm39) |
*82R |
probably null |
Het |
| Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
| Gne |
C |
T |
4: 44,041,843 (GRCm39) |
V485M |
probably damaging |
Het |
| Lcn10 |
T |
A |
2: 25,572,841 (GRCm39) |
V15E |
probably benign |
Het |
| Mapk11 |
T |
A |
15: 89,029,380 (GRCm39) |
|
probably null |
Het |
| Me3 |
T |
G |
7: 89,455,876 (GRCm39) |
Y243D |
probably damaging |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Myo1h |
T |
A |
5: 114,483,958 (GRCm39) |
L519* |
probably null |
Het |
| Myo9a |
T |
C |
9: 59,687,495 (GRCm39) |
V200A |
probably damaging |
Het |
| Mzf1 |
T |
A |
7: 12,785,526 (GRCm39) |
Q161H |
possibly damaging |
Het |
| Nim1k |
T |
G |
13: 120,189,130 (GRCm39) |
H93P |
probably damaging |
Het |
| Nkx6-1 |
C |
A |
5: 101,811,532 (GRCm39) |
R190L |
probably damaging |
Het |
| Noc3l |
A |
G |
19: 38,782,625 (GRCm39) |
V671A |
probably benign |
Het |
| Nsd1 |
T |
C |
13: 55,460,543 (GRCm39) |
S2257P |
probably benign |
Het |
| Nup210 |
T |
A |
6: 91,003,945 (GRCm39) |
I648F |
probably damaging |
Het |
| Oplah |
T |
C |
15: 76,189,944 (GRCm39) |
E223G |
possibly damaging |
Het |
| Or5b120 |
T |
C |
19: 13,480,556 (GRCm39) |
M283T |
probably benign |
Het |
| Plekhs1 |
A |
C |
19: 56,474,224 (GRCm39) |
T457P |
probably damaging |
Het |
| Plppr4 |
G |
A |
3: 117,119,551 (GRCm39) |
T286I |
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,068,037 (GRCm39) |
|
probably benign |
Het |
| Prss39 |
T |
A |
1: 34,541,878 (GRCm39) |
D318E |
possibly damaging |
Het |
| Psap |
A |
G |
10: 60,134,959 (GRCm39) |
E289G |
possibly damaging |
Het |
| Raf1 |
T |
C |
6: 115,597,217 (GRCm39) |
S28G |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,329,561 (GRCm39) |
D2978G |
probably benign |
Het |
| Rnf170 |
T |
A |
8: 26,631,027 (GRCm39) |
D213E |
probably damaging |
Het |
| Rsph3a |
T |
A |
17: 8,164,905 (GRCm39) |
H88Q |
possibly damaging |
Het |
| Scd1 |
A |
G |
19: 44,395,198 (GRCm39) |
I9T |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,968,911 (GRCm39) |
|
probably benign |
Het |
| Slc14a1 |
C |
T |
18: 78,145,686 (GRCm39) |
S416N |
probably benign |
Het |
| Smok4a |
T |
C |
17: 13,746,474 (GRCm39) |
|
noncoding transcript |
Het |
| Sostdc1 |
A |
T |
12: 36,367,165 (GRCm39) |
I114F |
probably damaging |
Het |
| Spen |
G |
A |
4: 141,202,375 (GRCm39) |
T2084I |
possibly damaging |
Het |
| Spen |
G |
T |
4: 141,244,149 (GRCm39) |
D295E |
unknown |
Het |
| Sptbn5 |
T |
C |
2: 119,890,202 (GRCm39) |
|
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,101,184 (GRCm39) |
|
probably benign |
Het |
| Tcea3 |
A |
T |
4: 135,998,683 (GRCm39) |
Y319F |
probably damaging |
Het |
| Timd4 |
T |
A |
11: 46,710,807 (GRCm39) |
|
probably null |
Het |
| Tmem88b |
G |
A |
4: 155,870,002 (GRCm39) |
P20S |
probably damaging |
Het |
| Tsen2 |
T |
A |
6: 115,538,365 (GRCm39) |
C281S |
probably damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,487,011 (GRCm39) |
T551A |
possibly damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,474,832 (GRCm39) |
H732R |
probably benign |
Het |
| Wdr90 |
A |
G |
17: 26,063,995 (GRCm39) |
|
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,344,836 (GRCm39) |
S1072P |
probably benign |
Het |
| Zfp148 |
A |
G |
16: 33,255,004 (GRCm39) |
|
probably benign |
Het |
| Zfp2 |
T |
A |
11: 50,790,851 (GRCm39) |
E397D |
probably damaging |
Het |
| Zfp729b |
A |
G |
13: 67,740,499 (GRCm39) |
F599L |
probably 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 |
|
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'- GCCCAACGTTTTCCTGAAGAAATAC -3'
(R):5'- ATAGGAGCGCCTTTAACAGAG -3'
Sequencing Primer
(F):5'- GCTGGCACAAGATCATCT -3'
(R):5'- GAGCGCCTTTAACAGAGTTAGACTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation