Incidental Mutation 'IGL01720:Rad17'
ID |
105073 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01720
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
100753672-100787559 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 100759366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 554
(C554S)
|
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: C554S
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000022136 Gene: ENSMUSG00000021635 AA Change: C554S
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: C554S
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000136292 Gene: ENSMUSG00000021635 AA Change: C554S
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: ENSMUST00000226050
|
Coding Region Coverage |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
G |
A |
6: 85,605,076 (GRCm39) |
R1773Q |
probably benign |
Het |
Apc2 |
T |
C |
10: 80,150,333 (GRCm39) |
S1796P |
probably benign |
Het |
Asxl3 |
A |
T |
18: 22,658,382 (GRCm39) |
I2131F |
probably damaging |
Het |
Cdc42bpa |
T |
A |
1: 179,938,847 (GRCm39) |
D833E |
probably damaging |
Het |
Cenpc1 |
A |
G |
5: 86,193,284 (GRCm39) |
S202P |
possibly damaging |
Het |
Cenpf |
T |
C |
1: 189,414,583 (GRCm39) |
E178G |
probably benign |
Het |
Cenpf |
T |
C |
1: 189,383,412 (GRCm39) |
Y2636C |
probably damaging |
Het |
Cfap251 |
A |
G |
5: 123,460,557 (GRCm39) |
D1173G |
probably benign |
Het |
Chkb |
C |
T |
15: 89,312,155 (GRCm39) |
|
probably null |
Het |
Cldn20 |
A |
G |
17: 3,583,375 (GRCm39) |
T183A |
probably benign |
Het |
Cpne8 |
C |
T |
15: 90,385,703 (GRCm39) |
V442I |
probably benign |
Het |
Cx3cl1 |
T |
A |
8: 95,504,701 (GRCm39) |
M39K |
probably damaging |
Het |
Dgkd |
T |
A |
1: 87,864,487 (GRCm39) |
L124Q |
probably damaging |
Het |
Duxf4 |
A |
C |
10: 58,072,211 (GRCm39) |
M1R |
probably null |
Het |
Fam180a |
T |
C |
6: 35,290,500 (GRCm39) |
H161R |
probably benign |
Het |
Galt |
C |
A |
4: 41,757,463 (GRCm39) |
R212S |
probably damaging |
Het |
Gja10 |
T |
C |
4: 32,601,007 (GRCm39) |
D459G |
probably benign |
Het |
Glb1 |
T |
C |
9: 114,249,573 (GRCm39) |
|
probably null |
Het |
Gm5709 |
A |
T |
3: 59,513,975 (GRCm39) |
|
noncoding transcript |
Het |
Igf2r |
A |
G |
17: 12,920,200 (GRCm39) |
Y1380H |
probably damaging |
Het |
Jag1 |
C |
T |
2: 136,929,023 (GRCm39) |
G811D |
probably damaging |
Het |
Lrguk |
T |
C |
6: 34,020,412 (GRCm39) |
F52S |
probably damaging |
Het |
Lrrc15 |
A |
T |
16: 30,092,138 (GRCm39) |
N400K |
probably benign |
Het |
Map3k12 |
A |
G |
15: 102,410,621 (GRCm39) |
|
probably benign |
Het |
Mbnl2 |
C |
T |
14: 120,562,682 (GRCm39) |
T11I |
probably damaging |
Het |
Mettl22 |
T |
C |
16: 8,302,117 (GRCm39) |
|
probably benign |
Het |
Mgat4a |
G |
A |
1: 37,483,979 (GRCm39) |
A497V |
probably damaging |
Het |
Mrpl49 |
C |
A |
19: 6,105,187 (GRCm39) |
M91I |
possibly damaging |
Het |
Or2ag18 |
A |
T |
7: 106,405,416 (GRCm39) |
D84E |
probably damaging |
Het |
Or2q1 |
G |
A |
6: 42,794,527 (GRCm39) |
V41I |
probably benign |
Het |
Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
Ppp1r13b |
T |
C |
12: 111,824,694 (GRCm39) |
T102A |
probably benign |
Het |
Pramel23 |
T |
A |
4: 143,423,410 (GRCm39) |
|
probably benign |
Het |
Prodh2 |
A |
G |
7: 30,210,628 (GRCm39) |
D393G |
probably damaging |
Het |
Pyroxd1 |
A |
G |
6: 142,296,784 (GRCm39) |
|
probably benign |
Het |
Rapgef5 |
T |
C |
12: 117,577,055 (GRCm39) |
|
probably benign |
Het |
Setdb2 |
A |
G |
14: 59,660,885 (GRCm39) |
V86A |
possibly damaging |
Het |
Slc38a2 |
A |
T |
15: 96,589,092 (GRCm39) |
|
probably benign |
Het |
Slc9c1 |
A |
G |
16: 45,376,132 (GRCm39) |
Y406C |
probably damaging |
Het |
Slit1 |
T |
C |
19: 41,622,653 (GRCm39) |
D702G |
probably benign |
Het |
Stat3 |
T |
C |
11: 100,794,484 (GRCm39) |
H275R |
possibly damaging |
Het |
Susd5 |
T |
A |
9: 113,893,052 (GRCm39) |
N43K |
possibly damaging |
Het |
Ttc3 |
A |
T |
16: 94,186,228 (GRCm39) |
K124N |
probably damaging |
Het |
Usp36 |
C |
A |
11: 118,165,828 (GRCm39) |
R165L |
probably damaging |
Het |
Vwf |
G |
A |
6: 125,619,798 (GRCm39) |
R1492Q |
possibly damaging |
Het |
Zbed6 |
A |
G |
1: 133,585,264 (GRCm39) |
V691A |
possibly damaging |
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 |
|
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 |
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 |
|
Posted On |
2014-01-21 |