Incidental Mutation 'R6342:Rad17'
| ID |
513928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad17
|
| Ensembl Gene |
ENSMUSG00000021635 |
| Gene Name |
RAD17 checkpoint clamp loader component |
| Synonyms |
MmRad24, 9430035O09Rik |
| MMRRC Submission |
044496-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6342 (G1)
|
| Quality Score |
224.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
100753672-100787559 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100755644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 579
(I579N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022136]
[ENSMUST00000022137]
[ENSMUST00000163163]
[ENSMUST00000168772]
[ENSMUST00000177848]
[ENSMUST00000225754]
[ENSMUST00000226050]
|
| AlphaFold |
Q6NXW6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022136
AA Change: I579N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: I579N
| 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: ENSMUST00000022137
|
| SMART Domains |
Protein: ENSMUSP00000022137
Gene: ENSMUSG00000021636
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
182 |
358 |
4.1e-20 |
PFAM |
|
low complexity region
|
423 |
434 |
N/A |
INTRINSIC |
|
Pfam:Occludin_ELL
|
443 |
545 |
2.7e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163163
|
| SMART Domains |
Protein: ENSMUSP00000129990
Gene: ENSMUSG00000021636
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
157 |
N/A |
INTRINSIC |
|
Pfam:Occludin_ELL
|
166 |
268 |
4.2e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168772
|
| SMART Domains |
Protein: ENSMUSP00000126438
Gene: ENSMUSG00000021636
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
182 |
358 |
3.6e-20 |
PFAM |
|
low complexity region
|
423 |
434 |
N/A |
INTRINSIC |
|
Pfam:Occludin_ELL
|
443 |
545 |
6.6e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177848
AA Change: I579N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: I579N
| 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: ENSMUST00000225754
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226050
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
97% (31/32) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa9 |
T |
C |
3: 95,204,101 (GRCm39) |
*346W |
probably null |
Het |
| Ap4b1 |
T |
C |
3: 103,720,684 (GRCm39) |
V118A |
possibly damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,626,942 (GRCm39) |
S183P |
probably damaging |
Het |
| Cadm3 |
T |
C |
1: 173,168,675 (GRCm39) |
T298A |
possibly damaging |
Het |
| Crtc1 |
A |
C |
8: 70,892,207 (GRCm39) |
M1R |
probably null |
Het |
| Dalrd3 |
A |
T |
9: 108,448,322 (GRCm39) |
K291* |
probably null |
Het |
| Dhrs9 |
C |
T |
2: 69,223,531 (GRCm39) |
T93M |
probably benign |
Het |
| Dnmt1 |
G |
T |
9: 20,821,089 (GRCm39) |
S1267* |
probably null |
Het |
| Dsg1b |
T |
C |
18: 20,523,300 (GRCm39) |
I109T |
probably damaging |
Het |
| Epha3 |
C |
A |
16: 63,403,863 (GRCm39) |
R745L |
probably damaging |
Het |
| Evi2 |
A |
G |
11: 79,406,784 (GRCm39) |
S264P |
probably benign |
Het |
| Grin2a |
A |
T |
16: 9,397,198 (GRCm39) |
L963Q |
probably damaging |
Het |
| Klhdc7a |
T |
A |
4: 139,694,370 (GRCm39) |
R192S |
probably benign |
Het |
| Kynu |
G |
T |
2: 43,571,463 (GRCm39) |
D460Y |
probably benign |
Het |
| Lrfn2 |
G |
A |
17: 49,404,028 (GRCm39) |
G717D |
probably benign |
Het |
| Lrp3 |
C |
T |
7: 34,901,731 (GRCm39) |
D696N |
probably benign |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or51a5 |
T |
C |
7: 102,771,563 (GRCm39) |
T143A |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,009,168 (GRCm39) |
Y2316N |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,351 (GRCm39) |
D430V |
probably damaging |
Het |
| Rp9 |
A |
T |
9: 22,361,154 (GRCm39) |
H44Q |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,558,735 (GRCm39) |
T1035A |
possibly damaging |
Het |
| Slc2a5 |
A |
C |
4: 150,223,983 (GRCm39) |
D225A |
possibly damaging |
Het |
| Tlx3 |
A |
T |
11: 33,152,567 (GRCm39) |
V176E |
possibly damaging |
Het |
| Trpv3 |
G |
A |
11: 73,174,689 (GRCm39) |
G352D |
probably damaging |
Het |
| Ubr4 |
C |
A |
4: 139,156,850 (GRCm39) |
H2292N |
possibly damaging |
Het |
| Wee2 |
A |
G |
6: 40,421,189 (GRCm39) |
H93R |
probably benign |
Het |
| Xirp2 |
T |
G |
2: 67,341,994 (GRCm39) |
L1412V |
possibly damaging |
Het |
| Zfat |
T |
C |
15: 68,052,831 (GRCm39) |
H321R |
probably damaging |
Het |
| Zfp623 |
C |
A |
15: 75,819,837 (GRCm39) |
C264* |
probably null |
Het |
| Zfp687 |
G |
C |
3: 94,919,188 (GRCm39) |
P195A |
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 |
|
|
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 |
|
|
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'- GTTAGACAGCCTAGCTTGAGTT -3'
(R):5'- TTAAGGGCTGGAGAGATGGC -3'
Sequencing Primer
(F):5'- CAGCCTAGCTTGAGTTATAAGGC -3'
(R):5'- CTCAGCGGTTAAAAGCACTGACTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation