Incidental Mutation 'IGL02305:Rad17'
| ID |
287567 |
| 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 # |
IGL02305
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
100753672-100787559 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 100770370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022136]
[ENSMUST00000177848]
[ENSMUST00000226050]
|
| AlphaFold |
Q6NXW6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022136
|
| SMART Domains |
Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
| 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 null
Transcript: ENSMUST00000177848
|
| SMART Domains |
Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
| 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: ENSMUST00000225155
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,921,048 (GRCm39) |
T599I |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,846,796 (GRCm39) |
T409A |
probably benign |
Het |
| Apol10b |
T |
A |
15: 77,469,630 (GRCm39) |
R182S |
possibly damaging |
Het |
| Arhgap35 |
A |
G |
7: 16,297,590 (GRCm39) |
F492L |
probably benign |
Het |
| Ccdc136 |
A |
G |
6: 29,406,173 (GRCm39) |
D173G |
probably damaging |
Het |
| Ccndbp1 |
T |
C |
2: 120,841,933 (GRCm39) |
L67P |
probably damaging |
Het |
| Dync2h1 |
C |
T |
9: 7,122,678 (GRCm39) |
V2093I |
probably benign |
Het |
| Eps15l1 |
T |
C |
8: 73,140,853 (GRCm39) |
K213R |
probably null |
Het |
| Fat4 |
A |
T |
3: 39,064,137 (GRCm39) |
N4698Y |
probably damaging |
Het |
| Frmpd1 |
G |
T |
4: 45,249,209 (GRCm39) |
R133L |
probably damaging |
Het |
| Gdi2 |
T |
A |
13: 3,606,428 (GRCm39) |
M158K |
probably damaging |
Het |
| Hoxc8 |
A |
G |
15: 102,901,025 (GRCm39) |
Y156C |
probably damaging |
Het |
| Iho1 |
A |
T |
9: 108,283,031 (GRCm39) |
M219K |
possibly damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,527,658 (GRCm39) |
D898G |
possibly damaging |
Het |
| Kng2 |
T |
C |
16: 22,819,374 (GRCm39) |
|
probably benign |
Het |
| Men1 |
T |
C |
19: 6,390,168 (GRCm39) |
L566P |
probably damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,706,551 (GRCm39) |
W153R |
probably damaging |
Het |
| Mug2 |
T |
G |
6: 122,013,015 (GRCm39) |
L309R |
probably benign |
Het |
| Myo7a |
A |
G |
7: 97,700,836 (GRCm39) |
*2165R |
probably null |
Het |
| Ogfod2 |
T |
C |
5: 124,250,910 (GRCm39) |
|
probably null |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Or8g20 |
A |
T |
9: 39,396,333 (GRCm39) |
I72N |
probably damaging |
Het |
| Pard6g |
T |
C |
18: 80,160,985 (GRCm39) |
L366P |
probably damaging |
Het |
| Pdlim4 |
A |
T |
11: 53,946,759 (GRCm39) |
L117H |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,852,467 (GRCm39) |
A672V |
probably benign |
Het |
| Pomt2 |
A |
G |
12: 87,164,703 (GRCm39) |
|
probably benign |
Het |
| Prpf4 |
T |
A |
4: 62,333,633 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,475,622 (GRCm39) |
I4499F |
probably damaging |
Het |
| Sav1 |
A |
G |
12: 70,033,550 (GRCm39) |
|
probably benign |
Het |
| Scube1 |
A |
T |
15: 83,491,591 (GRCm39) |
F887I |
probably damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,195,179 (GRCm39) |
S473G |
probably benign |
Het |
| Taf1b |
T |
C |
12: 24,594,270 (GRCm39) |
S268P |
possibly damaging |
Het |
| Tmem135 |
A |
T |
7: 88,814,331 (GRCm39) |
|
probably null |
Het |
| Vmn2r104 |
A |
T |
17: 20,263,118 (GRCm39) |
N114K |
probably benign |
Het |
| Ypel5 |
A |
T |
17: 73,155,591 (GRCm39) |
Y53F |
probably benign |
Het |
| Zfp438 |
A |
G |
18: 5,213,674 (GRCm39) |
V428A |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,757,423 (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 |
|
|
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 |
2015-04-16 |
Incidental Mutation