Incidental Mutation 'R6041:Rad17'
| ID |
483572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad17
|
| Ensembl Gene |
ENSMUSG00000021635 |
| Gene Name |
RAD17 checkpoint clamp loader component |
| Synonyms |
MmRad24, 9430035O09Rik |
| MMRRC Submission |
044209-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6041 (G1)
|
| Quality Score |
142.008 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
100753672-100787559 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100754274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 649
(N649D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022136]
[ENSMUST00000022137]
[ENSMUST00000163163]
[ENSMUST00000168772]
[ENSMUST00000177848]
[ENSMUST00000225754]
[ENSMUST00000226050]
|
| AlphaFold |
Q6NXW6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022136
AA Change: N649D
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: N649D
| 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: ENSMUST00000022137
|
| SMART Domains |
Protein: ENSMUSP00000022137
Gene: ENSMUSG00000021636
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
182 |
358 |
4.1e-20 |
PFAM |
|
low complexity region
|
423 |
434 |
N/A |
INTRINSIC |
|
Pfam:Occludin_ELL
|
443 |
545 |
2.7e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163163
|
| SMART Domains |
Protein: ENSMUSP00000129990
Gene: ENSMUSG00000021636
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
157 |
N/A |
INTRINSIC |
|
Pfam:Occludin_ELL
|
166 |
268 |
4.2e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168772
|
| SMART Domains |
Protein: ENSMUSP00000126438
Gene: ENSMUSG00000021636
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
182 |
358 |
3.6e-20 |
PFAM |
|
low complexity region
|
423 |
434 |
N/A |
INTRINSIC |
|
Pfam:Occludin_ELL
|
443 |
545 |
6.6e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177848
AA Change: N649D
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: N649D
| 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: ENSMUST00000225428
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225754
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226050
|
| Meta Mutation Damage Score |
0.0592 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| Validation Efficiency |
100% (62/62) |
| 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 |
|---|
| Abca3 |
T |
A |
17: 24,595,354 (GRCm39) |
M297K |
probably damaging |
Het |
| Ace |
A |
C |
11: 105,866,134 (GRCm39) |
H34P |
probably benign |
Het |
| Agbl2 |
A |
T |
2: 90,638,371 (GRCm39) |
N652I |
probably benign |
Het |
| Auh |
T |
A |
13: 53,073,122 (GRCm39) |
L86F |
possibly damaging |
Het |
| Bmp10 |
A |
G |
6: 87,411,302 (GRCm39) |
K365R |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,764,314 (GRCm39) |
S2086T |
probably damaging |
Het |
| Calcoco1 |
C |
A |
15: 102,626,374 (GRCm39) |
R105L |
possibly damaging |
Het |
| Casc3 |
T |
G |
11: 98,719,385 (GRCm39) |
V509G |
probably damaging |
Het |
| Clmn |
A |
G |
12: 104,748,131 (GRCm39) |
V472A |
probably benign |
Het |
| Cyp2b19 |
A |
T |
7: 26,458,852 (GRCm39) |
S142C |
probably damaging |
Het |
| Derl3 |
T |
C |
10: 75,729,335 (GRCm39) |
L26P |
probably damaging |
Het |
| Dgkh |
C |
T |
14: 78,825,067 (GRCm39) |
A863T |
probably damaging |
Het |
| Dhx30 |
C |
T |
9: 109,913,666 (GRCm39) |
R1127Q |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,324,037 (GRCm39) |
S1116P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,328,805 (GRCm39) |
V3179A |
probably benign |
Het |
| Dnajb11 |
A |
T |
16: 22,687,471 (GRCm39) |
N156I |
probably benign |
Het |
| Dpep1 |
A |
T |
8: 123,927,394 (GRCm39) |
E316V |
probably damaging |
Het |
| Entrep1 |
A |
T |
19: 23,962,193 (GRCm39) |
M270K |
probably benign |
Het |
| F2rl2 |
T |
A |
13: 95,837,617 (GRCm39) |
F221I |
probably benign |
Het |
| Flg2 |
T |
A |
3: 93,127,668 (GRCm39) |
D173E |
probably benign |
Het |
| Fshr |
A |
T |
17: 89,293,414 (GRCm39) |
D421E |
probably damaging |
Het |
| Gfm2 |
T |
A |
13: 97,309,131 (GRCm39) |
V612E |
probably benign |
Het |
| Gm17655 |
T |
G |
5: 110,195,439 (GRCm39) |
K114N |
possibly damaging |
Het |
| Gm45844 |
C |
A |
7: 7,281,183 (GRCm39) |
|
probably benign |
Het |
| Gpr142 |
A |
T |
11: 114,697,203 (GRCm39) |
I250F |
probably damaging |
Het |
| Hexa |
A |
G |
9: 59,470,519 (GRCm39) |
Q447R |
probably damaging |
Het |
| Leng8 |
T |
C |
7: 4,148,568 (GRCm39) |
L780P |
probably benign |
Het |
| Lrrk1 |
T |
C |
7: 65,911,881 (GRCm39) |
D1893G |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,407,641 (GRCm39) |
I139F |
probably damaging |
Het |
| Megf10 |
A |
T |
18: 57,313,621 (GRCm39) |
T22S |
probably benign |
Het |
| Mup-ps1 |
C |
A |
4: 60,088,549 (GRCm39) |
|
noncoding transcript |
Het |
| Myh13 |
A |
T |
11: 67,255,556 (GRCm39) |
E1642V |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,913,068 (GRCm39) |
Y1462H |
probably damaging |
Het |
| Nipbl |
T |
A |
15: 8,353,748 (GRCm39) |
D1765V |
probably damaging |
Het |
| Npy5r |
A |
T |
8: 67,134,675 (GRCm39) |
N39K |
possibly damaging |
Het |
| Or5m13b |
G |
A |
2: 85,753,735 (GRCm39) |
G41D |
probably damaging |
Het |
| Pax6 |
A |
G |
2: 105,514,247 (GRCm39) |
I29V |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,178,436 (GRCm39) |
Y307H |
probably benign |
Het |
| Pmf1 |
A |
C |
3: 88,303,358 (GRCm39) |
Y68D |
probably damaging |
Het |
| Psen2 |
C |
A |
1: 180,073,292 (GRCm39) |
E10* |
probably null |
Het |
| Ptprs |
T |
A |
17: 56,726,080 (GRCm39) |
M991L |
probably benign |
Het |
| R3hdm4 |
A |
G |
10: 79,749,495 (GRCm39) |
V20A |
possibly damaging |
Het |
| Rad9b |
A |
T |
5: 122,489,415 (GRCm39) |
C38S |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,976,469 (GRCm39) |
M1296V |
probably benign |
Het |
| Rbp3 |
T |
C |
14: 33,678,439 (GRCm39) |
S796P |
probably damaging |
Het |
| Rpl10-ps3 |
A |
G |
9: 50,256,082 (GRCm39) |
S54P |
probably benign |
Het |
| Sclt1 |
T |
A |
3: 41,581,612 (GRCm39) |
I688F |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,438,535 (GRCm39) |
I1778T |
probably damaging |
Het |
| Scrib |
C |
T |
15: 75,939,021 (GRCm39) |
R159Q |
possibly damaging |
Het |
| Senp1 |
C |
T |
15: 97,956,097 (GRCm39) |
E441K |
probably damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,389,024 (GRCm39) |
F417I |
probably damaging |
Het |
| Slco1a7 |
A |
C |
6: 141,684,764 (GRCm39) |
D230E |
probably benign |
Het |
| Smcr8 |
A |
G |
11: 60,670,394 (GRCm39) |
D514G |
probably damaging |
Het |
| Tbc1d23 |
T |
G |
16: 56,993,513 (GRCm39) |
D551A |
probably benign |
Het |
| Tet1 |
G |
T |
10: 62,649,152 (GRCm39) |
T149N |
probably damaging |
Het |
| Them4 |
A |
T |
3: 94,224,806 (GRCm39) |
D61V |
possibly damaging |
Het |
| Trak1 |
A |
T |
9: 121,289,478 (GRCm39) |
I597F |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,206,864 (GRCm39) |
I1666V |
possibly damaging |
Het |
| Vipr2 |
A |
C |
12: 116,106,604 (GRCm39) |
N378T |
probably damaging |
Het |
| Zfp804b |
T |
C |
5: 6,821,231 (GRCm39) |
R575G |
probably benign |
Het |
| Zfp941 |
A |
T |
7: 140,392,158 (GRCm39) |
C400* |
probably null |
Het |
| Zswim5 |
A |
C |
4: 116,819,818 (GRCm39) |
S408R |
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 |
|
|
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'- TGCTTGTCCTTCAGAGACGTG -3'
(R):5'- GATGTCTTCGCTGTGACTCTGAC -3'
Sequencing Primer
(F):5'- GTCCTTCAGAGACGTGTTCAAGTAC -3'
(R):5'- CTGTGACTCTGACAGGTTGAAAATG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation