Incidental Mutation 'RF022:Rad17'
ID |
603958 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad17
|
Ensembl Gene |
ENSMUSG00000021635 |
Gene Name |
RAD17 checkpoint clamp loader component |
Synonyms |
MmRad24, 9430035O09Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
RF022 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
100753672-100787559 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100773593 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 132
(L132S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022136
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022136]
[ENSMUST00000177848]
[ENSMUST00000226050]
|
AlphaFold |
Q6NXW6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022136
AA Change: L132S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022136 Gene: ENSMUSG00000021635 AA Change: L132S
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: L132S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136292 Gene: ENSMUSG00000021635 AA Change: L132S
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 |
silent
Transcript: ENSMUST00000226050
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
GTACT |
GTACTACT |
12: 110,634,877 (GRCm39) |
|
probably null |
Het |
Acap3 |
CCTGGGCTGCTG |
CCTGGGCTGCTGCATACTGGGCTGCTG |
4: 155,989,553 (GRCm39) |
|
probably benign |
Het |
Adam6b |
A |
T |
12: 113,455,289 (GRCm39) |
E702V |
possibly damaging |
Het |
Arpc3 |
A |
G |
5: 122,538,489 (GRCm39) |
T7A |
probably benign |
Het |
Bcl3 |
G |
A |
7: 19,542,966 (GRCm39) |
P393L |
probably damaging |
Het |
Ceacam9 |
A |
G |
7: 16,459,304 (GRCm39) |
D201G |
possibly damaging |
Het |
Chga |
AGC |
AGCCGC |
12: 102,527,679 (GRCm39) |
|
probably benign |
Het |
Clgn |
A |
G |
8: 84,152,235 (GRCm39) |
K579R |
probably damaging |
Het |
Cntnap2 |
C |
T |
6: 46,998,599 (GRCm39) |
R884W |
probably damaging |
Het |
Col6a4 |
A |
T |
9: 105,954,207 (GRCm39) |
D377E |
probably damaging |
Het |
Cort |
GCCCACTCGT |
G |
4: 149,209,869 (GRCm39) |
|
probably benign |
Het |
D5Ertd579e |
A |
C |
5: 36,772,006 (GRCm39) |
I796M |
probably damaging |
Het |
Dmkn |
GGTGGAAGTGGTGGAAG |
GGTGGAAGTGGTGGAAGAGGTGGAAGTCGTGGAAGTGGTGGAAG |
7: 30,466,600 (GRCm39) |
|
probably benign |
Het |
Dpagt1 |
G |
T |
9: 44,243,262 (GRCm39) |
V266L |
possibly damaging |
Het |
Ebf3 |
C |
A |
7: 136,915,671 (GRCm39) |
|
probably benign |
Het |
Exd2 |
AGCAGCCGCAGCC |
AGCAGCC |
12: 80,522,691 (GRCm39) |
|
probably benign |
Het |
Flywch1 |
CACTCCTGGTGT |
CACTCCTGGTGTGGGGAGGCTACGTACTCACCAACTCCTGGTGT |
17: 23,981,141 (GRCm39) |
|
probably null |
Het |
Gab3 |
CTT |
CTTATT |
X: 74,043,600 (GRCm39) |
|
probably null |
Het |
Golga4 |
A |
G |
9: 118,387,057 (GRCm39) |
D1393G |
probably damaging |
Het |
Gpc5 |
G |
A |
14: 115,789,688 (GRCm39) |
V521I |
probably damaging |
Het |
Grik1 |
A |
T |
16: 87,693,225 (GRCm39) |
N859K |
|
Het |
Insrr |
G |
A |
3: 87,711,792 (GRCm39) |
A511T |
possibly damaging |
Het |
Isx |
A |
G |
8: 75,600,474 (GRCm39) |
D69G |
probably damaging |
Het |
Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
Lkaaear1 |
CAGCTCCAG |
CAGCTCCAGGTCGAGCTCCAG |
2: 181,339,370 (GRCm39) |
|
probably benign |
Het |
Lrch1 |
TTGGTGGTGCTGGTGG |
TTGGTGG |
14: 75,185,014 (GRCm39) |
|
probably benign |
Het |
Magel2 |
A |
G |
7: 62,029,841 (GRCm39) |
E915G |
unknown |
Het |
Maml3 |
A |
G |
3: 51,764,083 (GRCm39) |
S294P |
probably damaging |
Het |
Mamld1 |
AGC |
AGCCGC |
X: 70,162,426 (GRCm39) |
|
probably benign |
Het |
Mef2d |
A |
T |
3: 88,075,574 (GRCm39) |
T486S |
probably benign |
Het |
Ms4a8a |
A |
G |
19: 11,053,689 (GRCm39) |
V139A |
possibly damaging |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or2z8 |
T |
G |
8: 72,812,468 (GRCm39) |
*315G |
probably null |
Het |
Pdik1l |
GTTTTTGTTTT |
GTTTTTGTTTTTTTTTTGTTTT |
4: 134,006,678 (GRCm39) |
|
probably null |
Het |
Pnma8a |
TCATGATGCACCTGCTTCAACATC |
TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC |
7: 16,695,352 (GRCm39) |
|
probably benign |
Het |
Ppfibp2 |
T |
C |
7: 107,296,817 (GRCm39) |
L177P |
probably damaging |
Het |
Ppp1r13l |
ACAGGCACCCTGCTCCGGC |
AC |
7: 19,102,467 (GRCm39) |
|
probably benign |
Het |
Ptprh |
A |
G |
7: 4,552,367 (GRCm39) |
F966L |
probably benign |
Het |
Raph1 |
GG |
GGGGG |
1: 60,528,426 (GRCm39) |
|
probably benign |
Het |
Rnf126 |
AGGACGAGG |
AG |
10: 79,594,977 (GRCm39) |
|
probably null |
Het |
Rwdd2b |
C |
T |
16: 87,233,558 (GRCm39) |
A181T |
probably benign |
Het |
Sh3pxd2b |
GCCTGT |
GCCTGTTCCTGT |
11: 32,373,054 (GRCm39) |
|
probably benign |
Het |
Six3 |
CGG |
CGGTGG |
17: 85,928,784 (GRCm39) |
|
probably benign |
Het |
Sla |
C |
T |
15: 66,654,593 (GRCm39) |
G231D |
probably benign |
Het |
Tcof1 |
CAG |
CAGTAG |
18: 60,968,807 (GRCm39) |
|
probably benign |
Het |
Tfeb |
GCA |
GCAACA |
17: 48,097,019 (GRCm39) |
|
probably benign |
Het |
Tgm5 |
T |
A |
2: 120,902,092 (GRCm39) |
E192D |
probably damaging |
Het |
Tmem123 |
A |
G |
9: 7,791,414 (GRCm39) |
Y171C |
probably damaging |
Het |
Tnrc18 |
G |
A |
5: 142,759,385 (GRCm39) |
A999V |
|
Het |
Triobp |
C |
T |
15: 78,858,482 (GRCm39) |
P1361L |
probably benign |
Het |
Ubac1 |
A |
T |
2: 25,895,470 (GRCm39) |
W328R |
probably damaging |
Het |
Ube2q1 |
A |
G |
3: 89,688,200 (GRCm39) |
N324S |
probably benign |
Het |
Zcchc2 |
T |
C |
1: 105,939,472 (GRCm39) |
I407T |
possibly damaging |
Het |
Zfp384 |
GCCCAGGCCCAGGCCCAGGCCCAG |
GCCCAGGCCCAGCCCCAGGCCCAGGCCCAGGCCCAG |
6: 125,013,434 (GRCm39) |
|
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 |
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 |
Z1176:Rad17
|
UTSW |
13 |
100,764,140 (GRCm39) |
missense |
probably benign |
0.05 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGCGCCTTCCAAGTAAAC -3'
(R):5'- CCCGTGCCTTTTGTTTAGCTAAAG -3'
Sequencing Primer
(F):5'- GCGCCTTCCAAGTAAACTTACC -3'
(R):5'- GAAGAAAACAATCCTCTCAGATC -3'
|
Posted On |
2019-12-04 |