Incidental Mutation 'R8313:Rad17'
| ID |
641524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad17
|
| Ensembl Gene |
ENSMUSG00000021635 |
| Gene Name |
RAD17 checkpoint clamp loader component |
| Synonyms |
MmRad24, 9430035O09Rik |
| MMRRC Submission |
067797-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8313 (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 100761074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 485
(T485A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022136]
[ENSMUST00000177848]
|
| AlphaFold |
Q6NXW6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022136
AA Change: T485A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: T485A
| 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: ENSMUST00000177848
AA Change: T485A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: T485A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Atl2 |
C |
T |
17: 80,160,033 (GRCm39) |
W518* |
probably null |
Het |
| Atp13a2 |
G |
A |
4: 140,730,046 (GRCm39) |
V646I |
probably benign |
Het |
| Bcar1 |
A |
T |
8: 112,440,270 (GRCm39) |
F575I |
probably benign |
Het |
| Bpifa6 |
T |
A |
2: 153,831,178 (GRCm39) |
L248* |
probably null |
Het |
| Ccdc38 |
T |
C |
10: 93,399,111 (GRCm39) |
L193P |
probably damaging |
Het |
| Ch25h |
A |
C |
19: 34,452,138 (GRCm39) |
I130S |
probably benign |
Het |
| Chaf1a |
C |
A |
17: 56,351,109 (GRCm39) |
Q30K |
unknown |
Het |
| Dab2ip |
T |
C |
2: 35,617,440 (GRCm39) |
L1106S |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,550,375 (GRCm39) |
Y3315H |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,214,456 (GRCm39) |
V1074I |
possibly damaging |
Het |
| Efemp1 |
A |
G |
11: 28,860,691 (GRCm39) |
Q200R |
probably benign |
Het |
| Eif1ad3 |
A |
T |
12: 87,843,764 (GRCm39) |
D137V |
unknown |
Het |
| Epx |
C |
T |
11: 87,763,557 (GRCm39) |
R221Q |
possibly damaging |
Het |
| Exosc7 |
T |
C |
9: 122,956,942 (GRCm39) |
L109P |
probably damaging |
Het |
| Fbxo22 |
T |
A |
9: 55,128,344 (GRCm39) |
F222I |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,785,769 (GRCm39) |
D402G |
probably benign |
Het |
| Foxr1 |
A |
G |
9: 44,347,351 (GRCm39) |
V62A |
probably damaging |
Het |
| Gm8267 |
A |
T |
14: 44,961,515 (GRCm39) |
H59Q |
probably damaging |
Het |
| Gnptab |
T |
A |
10: 88,275,071 (GRCm39) |
Y1090N |
probably damaging |
Het |
| Gpr20 |
A |
G |
15: 73,568,161 (GRCm39) |
F76S |
probably damaging |
Het |
| Gpr33 |
A |
G |
12: 52,070,907 (GRCm39) |
V44A |
probably benign |
Het |
| Grin3a |
G |
A |
4: 49,665,599 (GRCm39) |
T1012I |
probably benign |
Het |
| Itga1 |
T |
A |
13: 115,103,120 (GRCm39) |
T1104S |
probably benign |
Het |
| Kidins220 |
T |
A |
12: 25,054,110 (GRCm39) |
Y537N |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,057,515 (GRCm39) |
T530A |
|
Het |
| Lysmd2 |
A |
T |
9: 75,533,040 (GRCm39) |
|
probably benign |
Het |
| Mdk |
T |
C |
2: 91,761,178 (GRCm39) |
K128E |
unknown |
Het |
| Mphosph8 |
AC |
A |
14: 56,916,062 (GRCm39) |
|
probably null |
Het |
| Muc16 |
A |
C |
9: 18,436,443 (GRCm39) |
L7915W |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,753,423 (GRCm38) |
T1100S |
probably benign |
Het |
| Mxra7 |
T |
C |
11: 116,695,376 (GRCm39) |
Y176C |
probably damaging |
Het |
| Myh15 |
C |
A |
16: 48,940,381 (GRCm39) |
T777N |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 113,023,045 (GRCm39) |
S116P |
unknown |
Het |
| Noc3l |
A |
G |
19: 38,784,254 (GRCm39) |
L543P |
probably damaging |
Het |
| Or5h24 |
C |
T |
16: 58,919,004 (GRCm39) |
G117D |
unknown |
Het |
| Or7a39 |
C |
T |
10: 78,715,170 (GRCm39) |
P55S |
probably benign |
Het |
| Or8c10 |
T |
A |
9: 38,279,346 (GRCm39) |
V168E |
probably damaging |
Het |
| Pkm |
G |
T |
9: 59,575,902 (GRCm39) |
R106L |
probably benign |
Het |
| Prkab2 |
G |
T |
3: 97,570,911 (GRCm39) |
V112F |
probably benign |
Het |
| Prkaca |
A |
T |
8: 84,717,151 (GRCm39) |
N172Y |
probably damaging |
Het |
| Prmt8 |
A |
G |
6: 127,666,813 (GRCm39) |
V387A |
probably benign |
Het |
| Rita1 |
G |
T |
5: 120,747,716 (GRCm39) |
T194K |
possibly damaging |
Het |
| Rogdi |
C |
A |
16: 4,831,313 (GRCm39) |
|
probably benign |
Het |
| Senp5 |
T |
C |
16: 31,808,117 (GRCm39) |
D379G |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,194,122 (GRCm39) |
K201E |
possibly damaging |
Het |
| Slc9a4 |
C |
T |
1: 40,619,520 (GRCm39) |
|
probably benign |
Het |
| Tmem175 |
T |
A |
5: 108,791,075 (GRCm39) |
S208R |
probably benign |
Het |
| Tmem237 |
A |
T |
1: 59,147,237 (GRCm39) |
Y299N |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,769,936 (GRCm39) |
N575K |
possibly damaging |
Het |
| Trak2 |
A |
T |
1: 58,960,306 (GRCm39) |
C232* |
probably null |
Het |
| Ubr3 |
A |
G |
2: 69,775,478 (GRCm39) |
H589R |
probably damaging |
Het |
| Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn1r208 |
G |
C |
13: 22,956,947 (GRCm39) |
I183M |
probably benign |
Het |
| Vmn1r231 |
C |
T |
17: 21,110,289 (GRCm39) |
V209I |
probably benign |
Het |
| Vmn1r80 |
T |
C |
7: 11,926,994 (GRCm39) |
F35L |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,521,952 (GRCm39) |
I48N |
probably benign |
Het |
| Vstm2a |
T |
A |
11: 16,231,898 (GRCm39) |
V231E |
probably damaging |
Het |
| Zfp108 |
A |
C |
7: 23,960,087 (GRCm39) |
Y226S |
possibly damaging |
Het |
| Zfp445 |
A |
T |
9: 122,682,695 (GRCm39) |
N415K |
possibly damaging |
Het |
| Zfp938 |
T |
G |
10: 82,061,422 (GRCm39) |
R399S |
possibly damaging |
Het |
| Zmym4 |
G |
A |
4: 126,804,762 (GRCm39) |
H464Y |
probably benign |
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 |
|
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'- AGCCTCCATATCATCGACCT -3'
(R):5'- GTGCATTTGATCCCTATGTCTCAG -3'
Sequencing Primer
(F):5'- TCATCGACCTCATAATCCATTCAATC -3'
(R):5'- GATCCCTATGTCTCAGCTGAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation