Incidental Mutation 'R6947:Rad17'
| ID |
540942 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad17
|
| Ensembl Gene |
ENSMUSG00000021635 |
| Gene Name |
RAD17 checkpoint clamp loader component |
| Synonyms |
MmRad24, 9430035O09Rik |
| MMRRC Submission |
045060-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6947 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
100753672-100787559 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100759383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 548
(F548Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022136]
[ENSMUST00000177848]
[ENSMUST00000226050]
|
| AlphaFold |
Q6NXW6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022136
AA Change: F548Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: F548Y
| 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 damaging
Transcript: ENSMUST00000177848
AA Change: F548Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: F548Y
| 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: 99.8%
- 10x: 99.0%
- 20x: 96.0%
|
| Validation Efficiency |
100% (46/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
C |
A |
9: 90,073,857 (GRCm39) |
|
probably null |
Het |
| Adcy4 |
T |
C |
14: 56,015,848 (GRCm39) |
T414A |
possibly damaging |
Het |
| Bop1 |
A |
G |
15: 76,338,188 (GRCm39) |
F561L |
probably damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,309,401 (GRCm39) |
V332A |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,365,918 (GRCm39) |
T1042A |
probably damaging |
Het |
| Cnot8 |
G |
T |
11: 58,008,331 (GRCm39) |
V266L |
probably benign |
Het |
| Cxxc4 |
C |
T |
3: 133,946,277 (GRCm39) |
S286F |
possibly damaging |
Het |
| Cyp2d12 |
A |
T |
15: 82,443,248 (GRCm39) |
I386L |
probably benign |
Het |
| Dgka |
A |
T |
10: 128,568,884 (GRCm39) |
I227N |
probably damaging |
Het |
| Eif2d |
T |
C |
1: 131,092,404 (GRCm39) |
V354A |
probably benign |
Het |
| Fgr |
T |
A |
4: 132,722,380 (GRCm39) |
|
probably null |
Het |
| Idnk |
A |
G |
13: 58,308,055 (GRCm39) |
|
probably null |
Het |
| Kmt2e |
T |
C |
5: 23,702,543 (GRCm39) |
S952P |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 22,896,124 (GRCm39) |
H343R |
probably benign |
Het |
| Lgals8 |
G |
A |
13: 12,469,682 (GRCm39) |
|
probably benign |
Het |
| Lrit3 |
T |
A |
3: 129,582,883 (GRCm39) |
Q368L |
probably benign |
Het |
| Lypd8 |
A |
T |
11: 58,273,592 (GRCm39) |
T24S |
probably benign |
Het |
| Map3k4 |
G |
A |
17: 12,479,456 (GRCm39) |
Q704* |
probably null |
Het |
| Mcm3ap |
A |
G |
10: 76,351,500 (GRCm39) |
I1948V |
probably benign |
Het |
| Mettl25 |
A |
G |
10: 105,662,053 (GRCm39) |
F306L |
probably benign |
Het |
| Mos |
A |
C |
4: 3,871,585 (GRCm39) |
V77G |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,596,177 (GRCm39) |
R3130C |
possibly damaging |
Het |
| Naxd |
T |
C |
8: 11,552,757 (GRCm39) |
V59A |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,593,179 (GRCm39) |
V833A |
probably benign |
Het |
| Or1p4-ps1 |
C |
T |
11: 74,208,370 (GRCm39) |
S173L |
unknown |
Het |
| Or5m10b |
T |
C |
2: 85,699,271 (GRCm39) |
F112L |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,577,021 (GRCm39) |
|
probably null |
Het |
| Pde10a |
T |
A |
17: 9,188,424 (GRCm39) |
I908N |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,228,075 (GRCm39) |
K1058R |
probably benign |
Het |
| Rad54b |
T |
G |
4: 11,569,859 (GRCm39) |
S58R |
possibly damaging |
Het |
| Rbm20 |
G |
A |
19: 53,839,696 (GRCm39) |
G895D |
probably damaging |
Het |
| Rgs22 |
T |
C |
15: 36,104,036 (GRCm39) |
|
probably null |
Het |
| Rhobtb3 |
A |
G |
13: 76,058,785 (GRCm39) |
S338P |
probably benign |
Het |
| Ruvbl2 |
A |
G |
7: 45,074,373 (GRCm39) |
|
probably null |
Het |
| Slc16a12 |
A |
G |
19: 34,650,007 (GRCm39) |
F343L |
probably benign |
Het |
| Slc22a28 |
A |
G |
19: 8,041,875 (GRCm39) |
L444P |
possibly damaging |
Het |
| Slc44a4 |
A |
T |
17: 35,147,044 (GRCm39) |
Q358L |
probably null |
Het |
| Sowaha |
A |
G |
11: 53,369,225 (GRCm39) |
F504L |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,125,789 (GRCm39) |
L6035P |
probably damaging |
Het |
| Thbs2 |
A |
T |
17: 14,910,029 (GRCm39) |
M190K |
possibly damaging |
Het |
| Tmem171 |
A |
G |
13: 98,824,950 (GRCm39) |
F227L |
possibly damaging |
Het |
| Trp53 |
A |
G |
11: 69,479,307 (GRCm39) |
K162E |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,724,732 (GRCm39) |
K2098* |
probably null |
Het |
| Usp30 |
T |
C |
5: 114,241,821 (GRCm39) |
S88P |
probably benign |
Het |
| Zfp276 |
C |
A |
8: 123,981,643 (GRCm39) |
D63E |
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 |
|
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'- AATGACACTGGGTTGCCAC -3'
(R):5'- GCCAGACCCAAAGTATTAATGAACT -3'
Sequencing Primer
(F):5'- GCTGAAAGCAGTATCGACTAGTC -3'
(R):5'- GTCCCAGAACTTGATGTGTAGACC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation