Incidental Mutation 'R7035:Rad17'
| ID |
546630 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad17
|
| Ensembl Gene |
ENSMUSG00000021635 |
| Gene Name |
RAD17 checkpoint clamp loader component |
| Synonyms |
MmRad24, 9430035O09Rik |
| MMRRC Submission |
045136-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7035 (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 A
at 100764133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 446
(D446V)
|
| 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: D446V
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: D446V
| 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: D446V
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: D446V
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| 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 |
|---|
| 1110032F04Rik |
T |
A |
3: 68,777,272 (GRCm39) |
F78I |
probably benign |
Het |
| 1700102P08Rik |
A |
T |
9: 108,272,510 (GRCm39) |
D140V |
possibly damaging |
Het |
| 6430548M08Rik |
A |
T |
8: 120,879,225 (GRCm39) |
S208C |
probably damaging |
Het |
| Abcd4 |
G |
T |
12: 84,662,123 (GRCm39) |
T41K |
probably damaging |
Het |
| Acaca |
C |
T |
11: 84,129,769 (GRCm39) |
R375C |
probably damaging |
Het |
| Acad11 |
T |
A |
9: 103,990,694 (GRCm39) |
V433D |
probably damaging |
Het |
| Adal |
T |
A |
2: 120,985,942 (GRCm39) |
C226S |
probably benign |
Het |
| Aldh3b2 |
A |
T |
19: 4,028,142 (GRCm39) |
M95L |
probably benign |
Het |
| Ano4 |
A |
G |
10: 88,790,573 (GRCm39) |
F842S |
probably damaging |
Het |
| Ap5s1 |
T |
C |
2: 131,054,732 (GRCm39) |
F181S |
probably damaging |
Het |
| Apba1 |
G |
A |
19: 23,894,931 (GRCm39) |
D456N |
possibly damaging |
Het |
| Armh4 |
T |
A |
14: 50,010,507 (GRCm39) |
H400L |
possibly damaging |
Het |
| Atp6v0a1 |
A |
C |
11: 100,918,183 (GRCm39) |
Q199H |
probably damaging |
Het |
| Atp8a1 |
C |
G |
5: 67,938,373 (GRCm39) |
G161A |
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,949,530 (GRCm39) |
Q61* |
probably null |
Het |
| Cacna2d1 |
T |
A |
5: 16,451,670 (GRCm39) |
I178K |
probably damaging |
Het |
| Catsperb |
A |
C |
12: 101,381,593 (GRCm39) |
T92P |
probably damaging |
Het |
| Ccdc175 |
A |
G |
12: 72,202,419 (GRCm39) |
I292T |
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,334,933 (GRCm39) |
S318T |
probably benign |
Het |
| Cfb |
T |
A |
17: 35,079,007 (GRCm39) |
Y826F |
possibly damaging |
Het |
| Cntn1 |
C |
A |
15: 92,212,392 (GRCm39) |
D851E |
probably benign |
Het |
| Coq6 |
A |
G |
12: 84,415,415 (GRCm39) |
D146G |
probably damaging |
Het |
| Crem |
G |
A |
18: 3,327,503 (GRCm39) |
T12I |
probably damaging |
Het |
| Dennd4c |
G |
A |
4: 86,730,574 (GRCm39) |
V824I |
probably damaging |
Het |
| Dnase2b |
C |
T |
3: 146,288,096 (GRCm39) |
C333Y |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,406,355 (GRCm39) |
F365I |
possibly damaging |
Het |
| Dysf |
A |
T |
6: 84,163,374 (GRCm39) |
I1570F |
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,475,493 (GRCm39) |
C275S |
probably damaging |
Het |
| Fam135b |
A |
C |
15: 71,334,102 (GRCm39) |
S1031A |
possibly damaging |
Het |
| Gga2 |
T |
C |
7: 121,588,939 (GRCm39) |
D596G |
probably damaging |
Het |
| Gin1 |
A |
C |
1: 97,720,100 (GRCm39) |
Y365S |
possibly damaging |
Het |
| Gipr |
T |
A |
7: 18,896,809 (GRCm39) |
I154F |
probably damaging |
Het |
| Gm5478 |
A |
T |
15: 101,553,632 (GRCm39) |
I284N |
possibly damaging |
Het |
| Gnat1 |
A |
T |
9: 107,553,827 (GRCm39) |
|
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,650,569 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
A |
17: 68,088,044 (GRCm39) |
I1554N |
|
Het |
| Mycbp2 |
T |
A |
14: 103,412,417 (GRCm39) |
T2519S |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,797,352 (GRCm39) |
V1604M |
possibly damaging |
Het |
| Mypop |
C |
T |
7: 18,725,922 (GRCm39) |
|
probably benign |
Het |
| Nol6 |
A |
T |
4: 41,118,479 (GRCm39) |
V774E |
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,814,678 (GRCm39) |
V262A |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,113,965 (GRCm39) |
V637D |
probably damaging |
Het |
| Or1e16 |
T |
C |
11: 73,286,544 (GRCm39) |
I101M |
probably benign |
Het |
| Or4f52 |
A |
G |
2: 111,061,784 (GRCm39) |
M118T |
probably damaging |
Het |
| Or5p52 |
T |
C |
7: 107,502,140 (GRCm39) |
V72A |
probably benign |
Het |
| Pcdhgb8 |
A |
T |
18: 37,896,201 (GRCm39) |
I424F |
possibly damaging |
Het |
| Phf7 |
A |
C |
14: 30,961,183 (GRCm39) |
W231G |
probably damaging |
Het |
| Plagl1 |
A |
G |
10: 13,003,977 (GRCm39) |
|
probably benign |
Het |
| Plat |
A |
T |
8: 23,262,327 (GRCm39) |
D117V |
probably benign |
Het |
| Prkag2 |
T |
C |
5: 25,152,564 (GRCm39) |
Y180C |
probably damaging |
Het |
| Prpf8 |
T |
C |
11: 75,395,654 (GRCm39) |
I1927T |
possibly damaging |
Het |
| Ptchd1 |
T |
A |
X: 154,357,708 (GRCm39) |
Y499F |
probably damaging |
Het |
| Ralgapa2 |
G |
T |
2: 146,353,777 (GRCm39) |
Q15K |
probably damaging |
Het |
| Ret |
A |
G |
6: 118,140,247 (GRCm39) |
Y982H |
probably damaging |
Het |
| Rnf145 |
T |
A |
11: 44,452,583 (GRCm39) |
S521T |
probably damaging |
Het |
| Samd4 |
G |
A |
14: 47,326,620 (GRCm39) |
|
silent |
Het |
| Sardh |
T |
C |
2: 27,120,854 (GRCm39) |
D390G |
probably damaging |
Het |
| Saxo1 |
T |
C |
4: 86,363,359 (GRCm39) |
T375A |
probably damaging |
Het |
| Scly |
A |
G |
1: 91,236,125 (GRCm39) |
T126A |
probably damaging |
Het |
| Slc6a16 |
T |
A |
7: 44,910,251 (GRCm39) |
V307D |
probably damaging |
Het |
| Sned1 |
T |
C |
1: 93,189,852 (GRCm39) |
C320R |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,426,147 (GRCm39) |
|
probably null |
Het |
| Sycp2l |
C |
T |
13: 41,310,973 (GRCm39) |
T645I |
unknown |
Het |
| Tpmt |
T |
C |
13: 47,193,584 (GRCm39) |
K72E |
probably damaging |
Het |
| Tsbp1 |
C |
T |
17: 34,679,305 (GRCm39) |
|
probably benign |
Het |
| Ube2q2l |
G |
A |
6: 136,378,347 (GRCm39) |
T161M |
possibly damaging |
Het |
| Vmn1r51 |
A |
T |
6: 90,106,207 (GRCm39) |
H41L |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,003,415 (GRCm39) |
I2900N |
probably damaging |
Het |
| Zfp663 |
A |
G |
2: 165,195,023 (GRCm39) |
S399P |
probably benign |
Het |
| Zfp692 |
T |
C |
11: 58,200,268 (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 |
|
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'- CCCAACGTTTTCCTGAAGAAATAC -3'
(R):5'- CATAGGAGCGCCTTTAACAGAG -3'
Sequencing Primer
(F):5'- GCTGGCACAAGATCATCT -3'
(R):5'- GAGCGCCTTTAACAGAGTTAGACTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation