Incidental Mutation 'IGL00422:Rad17'
| ID |
4250 |
| 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 # |
IGL00422
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
100753672-100787559 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100766031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 366
(S366T)
|
| 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: S366T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: S366T
| 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: S366T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: S366T
| 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 |
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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
| Adam34l |
A |
G |
8: 44,079,388 (GRCm39) |
F279L |
probably damaging |
Het |
| Ajuba |
A |
T |
14: 54,809,226 (GRCm39) |
Y400* |
probably null |
Het |
| Cckar |
T |
A |
5: 53,857,171 (GRCm39) |
D342V |
possibly damaging |
Het |
| Cdc123 |
A |
G |
2: 5,803,260 (GRCm39) |
V253A |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,109,220 (GRCm39) |
D461G |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,859,106 (GRCm39) |
E2399K |
probably damaging |
Het |
| Cln8 |
G |
A |
8: 14,946,637 (GRCm39) |
C217Y |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,407,236 (GRCm39) |
V2119A |
possibly damaging |
Het |
| Dhx33 |
T |
C |
11: 70,892,446 (GRCm39) |
S108G |
probably benign |
Het |
| Dip2a |
T |
A |
10: 76,149,070 (GRCm39) |
M194L |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,031,831 (GRCm39) |
K1779R |
probably damaging |
Het |
| Fads3 |
T |
G |
19: 10,033,045 (GRCm39) |
F328V |
possibly damaging |
Het |
| Flad1 |
A |
G |
3: 89,313,160 (GRCm39) |
|
probably null |
Het |
| Gm7535 |
G |
T |
17: 18,132,150 (GRCm39) |
|
probably benign |
Het |
| Gnpat |
A |
G |
8: 125,611,752 (GRCm39) |
E513G |
probably damaging |
Het |
| H2-M5 |
A |
G |
17: 37,298,732 (GRCm39) |
I238T |
probably damaging |
Het |
| Hoxd12 |
G |
A |
2: 74,505,771 (GRCm39) |
R114Q |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,253,931 (GRCm39) |
I903V |
unknown |
Het |
| Ifi209 |
T |
G |
1: 173,466,529 (GRCm39) |
D120E |
possibly damaging |
Het |
| Map3k10 |
T |
C |
7: 27,367,894 (GRCm39) |
D248G |
probably damaging |
Het |
| Mat2b |
C |
A |
11: 40,578,565 (GRCm39) |
G41C |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 131,968,332 (GRCm39) |
I369V |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,433,093 (GRCm39) |
V1480E |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,119,490 (GRCm39) |
D127V |
probably damaging |
Het |
| Olfml2b |
T |
A |
1: 170,496,635 (GRCm39) |
V422E |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,971,116 (GRCm39) |
A228T |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
| Slco1a6 |
A |
C |
6: 142,106,743 (GRCm39) |
C15G |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,988,692 (GRCm39) |
F571I |
probably benign |
Het |
| Ttc27 |
T |
A |
17: 75,087,811 (GRCm39) |
C459S |
probably damaging |
Het |
| Washc2 |
A |
G |
6: 116,233,637 (GRCm39) |
T888A |
probably benign |
Het |
| Zcchc7 |
A |
T |
4: 44,931,318 (GRCm39) |
H490L |
possibly damaging |
Het |
|
| Other mutations in Rad17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation