Incidental Mutation 'R8739:Rad17'
| ID |
663241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad17
|
| Ensembl Gene |
ENSMUSG00000021635 |
| Gene Name |
RAD17 checkpoint clamp loader component |
| Synonyms |
MmRad24, 9430035O09Rik |
| MMRRC Submission |
068586-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8739 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
100753672-100787559 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100765998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 377
(T377A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022136]
[ENSMUST00000177848]
[ENSMUST00000226050]
|
| AlphaFold |
Q6NXW6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022136
AA Change: T377A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: T377A
| 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: T377A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: T377A
| 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: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (59/59) |
| 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 |
|---|
| Adam24 |
T |
C |
8: 41,133,480 (GRCm39) |
V316A |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,831,261 (GRCm39) |
E1364G |
probably benign |
Het |
| Agrn |
C |
T |
4: 156,257,045 (GRCm39) |
R1233Q |
probably benign |
Het |
| Ankrd6 |
A |
G |
4: 32,806,337 (GRCm39) |
S639P |
possibly damaging |
Het |
| Arid5a |
A |
G |
1: 36,358,677 (GRCm39) |
N418S |
probably benign |
Het |
| Cep152 |
T |
C |
2: 125,461,975 (GRCm39) |
E69G |
probably benign |
Het |
| Chrnb2 |
A |
G |
3: 89,669,746 (GRCm39) |
S109P |
probably damaging |
Het |
| Chuk |
A |
G |
19: 44,077,135 (GRCm39) |
S404P |
probably benign |
Het |
| Clec4a3 |
T |
C |
6: 122,944,508 (GRCm39) |
Y185H |
probably damaging |
Het |
| Dctd |
T |
A |
8: 48,591,883 (GRCm39) |
L149H |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,278,323 (GRCm39) |
|
probably benign |
Het |
| Dhrs13 |
G |
C |
11: 77,923,492 (GRCm39) |
R70P |
possibly damaging |
Het |
| Dnah5 |
G |
A |
15: 28,346,006 (GRCm39) |
A2449T |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,581,014 (GRCm39) |
V247A |
probably damaging |
Het |
| Eef1ece2 |
G |
A |
16: 20,449,665 (GRCm39) |
|
probably benign |
Het |
| Espnl |
T |
A |
1: 91,272,317 (GRCm39) |
L559Q |
probably damaging |
Het |
| Gak |
A |
G |
5: 108,739,604 (GRCm39) |
V627A |
possibly damaging |
Het |
| Gcnt1 |
A |
T |
19: 17,307,437 (GRCm39) |
M96K |
probably benign |
Het |
| Ggta1 |
T |
C |
2: 35,292,572 (GRCm39) |
D245G |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,371 (GRCm39) |
F505Y |
probably damaging |
Het |
| Inpp4a |
A |
G |
1: 37,422,207 (GRCm39) |
|
probably benign |
Het |
| Kcnj14 |
C |
G |
7: 45,468,812 (GRCm39) |
R231P |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,020,399 (GRCm39) |
C382* |
probably null |
Het |
| Marveld3 |
T |
C |
8: 110,688,609 (GRCm39) |
E44G |
possibly damaging |
Het |
| Mettl17 |
T |
C |
14: 52,128,848 (GRCm39) |
F373L |
possibly damaging |
Het |
| Morc3 |
T |
A |
16: 93,657,398 (GRCm39) |
L374Q |
probably damaging |
Het |
| Muc16 |
C |
T |
9: 18,548,594 (GRCm39) |
D5900N |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,368,088 (GRCm39) |
N283D |
probably benign |
Het |
| Ncapg2 |
T |
G |
12: 116,379,098 (GRCm39) |
D197E |
possibly damaging |
Het |
| Nipbl |
T |
C |
15: 8,332,904 (GRCm39) |
T2240A |
probably benign |
Het |
| Nrip1 |
A |
C |
16: 76,088,236 (GRCm39) |
V1107G |
possibly damaging |
Het |
| Or13a19 |
T |
C |
7: 139,902,647 (GRCm39) |
F12L |
probably damaging |
Het |
| Or4d5 |
G |
A |
9: 40,012,636 (GRCm39) |
T50I |
probably benign |
Het |
| Or4f52 |
C |
A |
2: 111,061,834 (GRCm39) |
M101I |
probably benign |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,549 (GRCm39) |
I293K |
probably damaging |
Het |
| Pcsk5 |
G |
T |
19: 17,432,138 (GRCm39) |
H1492Q |
probably benign |
Het |
| Pdcd4 |
T |
A |
19: 53,899,405 (GRCm39) |
Y131* |
probably null |
Het |
| Pdf |
T |
A |
8: 107,773,796 (GRCm39) |
M216L |
probably damaging |
Het |
| Pira13 |
A |
T |
7: 3,828,188 (GRCm39) |
S40T |
|
Het |
| Plch1 |
T |
C |
3: 63,778,106 (GRCm39) |
H17R |
possibly damaging |
Het |
| Prkdc |
T |
G |
16: 15,626,068 (GRCm39) |
S3365A |
probably benign |
Het |
| Rab3c |
T |
C |
13: 110,397,135 (GRCm39) |
T44A |
probably damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnf215 |
T |
G |
11: 4,085,959 (GRCm39) |
|
probably null |
Het |
| Sec31b |
G |
A |
19: 44,507,620 (GRCm39) |
T808I |
probably benign |
Het |
| Selenbp1 |
A |
T |
3: 94,844,601 (GRCm39) |
D86V |
probably damaging |
Het |
| Smurf2 |
G |
T |
11: 106,743,322 (GRCm39) |
Y241* |
probably null |
Het |
| Spint1 |
T |
C |
2: 119,079,286 (GRCm39) |
V456A |
possibly damaging |
Het |
| Spmap2 |
G |
T |
10: 79,419,581 (GRCm39) |
N240K |
possibly damaging |
Het |
| Stx5a |
A |
T |
19: 8,725,924 (GRCm39) |
I175F |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tfb1m |
T |
C |
17: 3,569,927 (GRCm39) |
E313G |
probably benign |
Het |
| Thrb |
A |
G |
14: 17,963,082 (GRCm38) |
D15G |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,165,555 (GRCm39) |
K1045R |
probably damaging |
Het |
| Tmx2 |
T |
C |
2: 84,505,745 (GRCm39) |
|
probably benign |
Het |
| Trabd |
T |
C |
15: 88,969,152 (GRCm39) |
I192T |
probably damaging |
Het |
| Try5 |
T |
A |
6: 41,288,637 (GRCm39) |
D194V |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,796,371 (GRCm39) |
N1263S |
probably benign |
Het |
| Ttll13 |
T |
C |
7: 79,902,923 (GRCm39) |
I197T |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,540,643 (GRCm39) |
|
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 |
|
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'- CCTGGCTATGCAGTATCTGGTG -3'
(R):5'- AAAGGTTTGGGTTGGAACACTTAG -3'
Sequencing Primer
(F):5'- GGGGTTCCTAGCTTCTTCTTATAAC -3'
(R):5'- GAGCATACTGTAGCTGCCTTCAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation