Incidental Mutation 'R1079:Rad17'
| ID |
85797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad17
|
| Ensembl Gene |
ENSMUSG00000021635 |
| Gene Name |
RAD17 checkpoint clamp loader component |
| Synonyms |
MmRad24, 9430035O09Rik |
| MMRRC Submission |
039165-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1079 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
100753672-100787559 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 100770407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 213
(D213E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022136]
[ENSMUST00000177848]
[ENSMUST00000226050]
|
| AlphaFold |
Q6NXW6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022136
AA Change: D213E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: D213E
| 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
AA Change: D213E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: D213E
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
98% (46/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002J24Rik |
T |
C |
7: 30,399,209 (GRCm39) |
M1T |
probably null |
Het |
| Adam25 |
T |
C |
8: 41,208,513 (GRCm39) |
V593A |
possibly damaging |
Het |
| Agrn |
C |
T |
4: 156,261,682 (GRCm39) |
C536Y |
probably damaging |
Het |
| Amigo3 |
T |
C |
9: 107,931,051 (GRCm39) |
M158T |
probably benign |
Het |
| Arsa |
G |
A |
15: 89,358,428 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,941,785 (GRCm39) |
I1474L |
possibly damaging |
Het |
| Cfap144 |
A |
G |
11: 58,692,620 (GRCm39) |
Y36H |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,944,872 (GRCm39) |
V1455A |
probably damaging |
Het |
| Cfap65 |
G |
A |
1: 74,941,606 (GRCm39) |
A1776V |
probably damaging |
Het |
| Cnot6 |
G |
T |
11: 49,575,930 (GRCm39) |
D176E |
probably benign |
Het |
| Crot |
A |
T |
5: 9,043,504 (GRCm39) |
|
probably null |
Het |
| Cryba2 |
A |
T |
1: 74,929,717 (GRCm39) |
V140E |
probably damaging |
Het |
| Dennd4b |
G |
A |
3: 90,178,485 (GRCm39) |
R516K |
probably benign |
Het |
| Dst |
C |
A |
1: 34,225,944 (GRCm39) |
T1697N |
possibly damaging |
Het |
| Eftud2 |
G |
T |
11: 102,730,870 (GRCm39) |
Y837* |
probably null |
Het |
| Evpl |
G |
T |
11: 116,120,894 (GRCm39) |
T447K |
possibly damaging |
Het |
| Fndc3a |
A |
T |
14: 72,827,247 (GRCm39) |
M146K |
possibly damaging |
Het |
| Folh1 |
G |
T |
7: 86,421,089 (GRCm39) |
T80K |
probably damaging |
Het |
| Gm4922 |
T |
A |
10: 18,660,086 (GRCm39) |
Y212F |
probably damaging |
Het |
| Gtf2i |
T |
G |
5: 134,271,748 (GRCm39) |
|
probably benign |
Het |
| Hipk3 |
A |
G |
2: 104,302,043 (GRCm39) |
F50L |
probably benign |
Het |
| Ifit1bl2 |
T |
A |
19: 34,596,885 (GRCm39) |
T244S |
probably benign |
Het |
| Ikzf2 |
T |
C |
1: 69,578,264 (GRCm39) |
D341G |
possibly damaging |
Het |
| Kif3a |
G |
C |
11: 53,461,408 (GRCm39) |
V17L |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lzts2 |
T |
A |
19: 45,011,983 (GRCm39) |
N137K |
probably damaging |
Het |
| Mphosph8 |
T |
A |
14: 56,911,716 (GRCm39) |
D246E |
probably damaging |
Het |
| Myh14 |
T |
C |
7: 44,279,426 (GRCm39) |
E918G |
probably damaging |
Het |
| N6amt1 |
T |
C |
16: 87,153,086 (GRCm39) |
V52A |
probably damaging |
Het |
| Npr2 |
A |
C |
4: 43,643,654 (GRCm39) |
T561P |
probably damaging |
Het |
| Nudt12 |
G |
A |
17: 59,318,032 (GRCm39) |
|
probably benign |
Het |
| Or10ad1 |
A |
C |
15: 98,106,223 (GRCm39) |
V14G |
probably damaging |
Het |
| Or5w8 |
A |
G |
2: 87,687,699 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or6n2 |
A |
T |
1: 173,897,032 (GRCm39) |
H56L |
possibly damaging |
Het |
| Or8k22 |
T |
A |
2: 86,163,185 (GRCm39) |
R172W |
probably damaging |
Het |
| Pan2 |
A |
G |
10: 128,154,107 (GRCm39) |
T1050A |
probably damaging |
Het |
| Sall2 |
T |
A |
14: 52,550,660 (GRCm39) |
H843L |
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sema3e |
A |
T |
5: 14,275,669 (GRCm39) |
N258I |
probably benign |
Het |
| Siglec1 |
G |
A |
2: 130,921,297 (GRCm39) |
R625* |
probably null |
Het |
| Slc15a3 |
T |
C |
19: 10,833,344 (GRCm39) |
S454P |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,516,825 (GRCm39) |
|
probably benign |
Het |
| Spatc1l |
T |
C |
10: 76,399,741 (GRCm39) |
S88P |
probably damaging |
Het |
| Ssh3 |
A |
C |
19: 4,316,577 (GRCm39) |
L143R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,587,340 (GRCm39) |
|
probably benign |
Het |
| Vps35 |
A |
G |
8: 86,005,683 (GRCm39) |
L306S |
probably damaging |
Het |
| Zfp729a |
T |
C |
13: 67,767,794 (GRCm39) |
I812V |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACTTCACTGACACCTACCTTAGAAT -3'
(R):5'- tcgctccaccccAATAGCTACA -3'
Sequencing Primer
(F):5'- GTAACTCCTGTGGAATATATGGGAC -3'
(R):5'- gcctcaaagtcatctgcctc -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation