Incidental Mutation 'IGL02541:Rad17'
| ID |
298256 |
| 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 # |
IGL02541
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
100753672-100787559 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 100769951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022136]
[ENSMUST00000177848]
[ENSMUST00000226050]
|
| AlphaFold |
Q6NXW6 |
| Predicted Effect |
probably benign
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 benign
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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,113,881 (GRCm39) |
L917F |
possibly damaging |
Het |
| Abca6 |
A |
T |
11: 110,103,093 (GRCm39) |
W833R |
probably damaging |
Het |
| Asb15 |
T |
A |
6: 24,566,265 (GRCm39) |
V406D |
probably damaging |
Het |
| Bcl9l |
T |
C |
9: 44,419,066 (GRCm39) |
V968A |
probably benign |
Het |
| Bend7 |
T |
C |
2: 4,768,116 (GRCm39) |
|
probably null |
Het |
| Cadm2 |
C |
A |
16: 66,679,770 (GRCm39) |
G21V |
possibly damaging |
Het |
| Cadm2 |
C |
A |
16: 66,679,771 (GRCm39) |
|
probably null |
Het |
| Camta1 |
G |
A |
4: 151,169,112 (GRCm39) |
T1191I |
probably benign |
Het |
| Cep152 |
C |
T |
2: 125,447,274 (GRCm39) |
A425T |
probably damaging |
Het |
| Cep95 |
C |
A |
11: 106,706,407 (GRCm39) |
Q554K |
probably damaging |
Het |
| Cgref1 |
A |
G |
5: 31,091,502 (GRCm39) |
|
probably null |
Het |
| Clock |
T |
A |
5: 76,410,519 (GRCm39) |
|
probably null |
Het |
| Cmc2 |
A |
G |
8: 117,620,883 (GRCm39) |
F33L |
probably benign |
Het |
| Cnksr3 |
A |
G |
10: 7,085,073 (GRCm39) |
V258A |
probably damaging |
Het |
| Col6a6 |
G |
T |
9: 105,609,415 (GRCm39) |
N1624K |
probably benign |
Het |
| Cped1 |
T |
C |
6: 22,120,988 (GRCm39) |
I356T |
probably benign |
Het |
| Dpy19l2 |
C |
T |
9: 24,569,943 (GRCm39) |
V337I |
probably benign |
Het |
| E2f3 |
A |
T |
13: 30,100,827 (GRCm39) |
|
probably null |
Het |
| Eif1ad |
A |
G |
19: 5,418,445 (GRCm39) |
|
probably benign |
Het |
| Fam114a2 |
A |
T |
11: 57,390,627 (GRCm39) |
D302E |
probably benign |
Het |
| Fign |
T |
C |
2: 63,809,881 (GRCm39) |
N463S |
probably benign |
Het |
| Fzr1 |
T |
C |
10: 81,205,867 (GRCm39) |
T220A |
probably damaging |
Het |
| Gm14496 |
G |
A |
2: 181,642,186 (GRCm39) |
R619Q |
probably benign |
Het |
| Gm9966 |
T |
C |
7: 95,607,991 (GRCm39) |
I104T |
unknown |
Het |
| Itgb7 |
G |
T |
15: 102,131,892 (GRCm39) |
H230Q |
probably benign |
Het |
| Kif7 |
T |
C |
7: 79,360,628 (GRCm39) |
H249R |
possibly damaging |
Het |
| Krtap4-2 |
T |
G |
11: 99,525,792 (GRCm39) |
Q20P |
unknown |
Het |
| Mis18bp1 |
T |
C |
12: 65,208,234 (GRCm39) |
T160A |
probably damaging |
Het |
| Mrps9 |
T |
C |
1: 42,901,814 (GRCm39) |
|
probably null |
Het |
| Mynn |
T |
A |
3: 30,665,752 (GRCm39) |
H461Q |
probably damaging |
Het |
| Naa25 |
A |
G |
5: 121,562,594 (GRCm39) |
T459A |
possibly damaging |
Het |
| Niban3 |
A |
T |
8: 72,055,426 (GRCm39) |
T279S |
probably benign |
Het |
| Notch1 |
C |
T |
2: 26,358,515 (GRCm39) |
D1439N |
probably benign |
Het |
| Or2ag2b |
A |
G |
7: 106,417,809 (GRCm39) |
E173G |
probably benign |
Het |
| Pals2 |
A |
G |
6: 50,160,707 (GRCm39) |
I323V |
probably benign |
Het |
| Pcdhb3 |
A |
T |
18: 37,435,198 (GRCm39) |
D388V |
probably damaging |
Het |
| Pold3 |
C |
T |
7: 99,732,879 (GRCm39) |
G417S |
probably damaging |
Het |
| Pwwp3a |
G |
A |
10: 80,064,273 (GRCm39) |
|
probably null |
Het |
| Sh3glb1 |
T |
C |
3: 144,425,801 (GRCm39) |
D5G |
probably damaging |
Het |
| Shank3 |
T |
A |
15: 89,385,613 (GRCm39) |
Y167N |
probably damaging |
Het |
| Slc3a2 |
A |
T |
19: 8,685,123 (GRCm39) |
Y292* |
probably null |
Het |
| Slc7a13 |
T |
A |
4: 19,839,212 (GRCm39) |
|
probably benign |
Het |
| Snx18 |
A |
T |
13: 113,731,302 (GRCm39) |
I564N |
probably damaging |
Het |
| Supt6 |
G |
A |
11: 78,117,744 (GRCm39) |
R491C |
probably damaging |
Het |
| Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
| Tnrc6b |
C |
A |
15: 80,764,032 (GRCm39) |
D511E |
probably benign |
Het |
| Trio |
A |
G |
15: 27,845,016 (GRCm39) |
|
probably benign |
Het |
| Trmt12 |
T |
A |
15: 58,745,651 (GRCm39) |
W350R |
probably benign |
Het |
| Ttc1 |
T |
C |
11: 43,629,648 (GRCm39) |
T173A |
probably benign |
Het |
| Ttc39d |
C |
A |
17: 80,523,875 (GRCm39) |
T178K |
probably damaging |
Het |
| Ufl1 |
T |
A |
4: 25,250,534 (GRCm39) |
E693V |
possibly damaging |
Het |
| Vamp2 |
G |
T |
11: 68,979,977 (GRCm39) |
E16D |
unknown |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,673,092 (GRCm39) |
|
probably benign |
Het |
| Wdr70 |
C |
T |
15: 7,913,783 (GRCm39) |
W622* |
probably null |
Het |
| Zfp28 |
C |
T |
7: 6,396,479 (GRCm39) |
Q305* |
probably null |
Het |
| Zfp653 |
C |
A |
9: 21,967,079 (GRCm39) |
R602L |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,763,475 (GRCm39) |
V1374E |
probably 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 |
|
|
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 |
|
|
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