Incidental Mutation 'R8287:Xrcc1'
| ID |
638489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xrcc1
|
| Ensembl Gene |
ENSMUSG00000051768 |
| Gene Name |
X-ray repair complementing defective repair in Chinese hamster cells 1 |
| Synonyms |
Xrcc-1 |
| MMRRC Submission |
067709-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8287 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24246124-24272863 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24271703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 562
(R562H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063249]
[ENSMUST00000205573]
|
| AlphaFold |
Q60596 |
| PDB Structure |
X-ray crystal structure of the second XRCC1 BRCT domain. [X-RAY DIFFRACTION]
X-ray crystal structure of the heterodimeric complex of XRCC1 and DNA ligase III-alpha BRCT domains. [X-RAY DIFFRACTION]
XRCC1 bound to DNA ligase [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063249
AA Change: R562H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070995
Gene: ENSMUSG00000051768
AA Change: R562H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC1_N
|
1 |
151 |
6.9e-66 |
PFAM |
|
low complexity region
|
212 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
294 |
N/A |
INTRINSIC |
|
BRCT
|
317 |
393 |
8e-19 |
SMART |
|
low complexity region
|
407 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
459 |
N/A |
INTRINSIC |
|
BRCT
|
538 |
617 |
5.5e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205573
AA Change: R562H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (27/27) |
| 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 involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants accumulate unrepaired DNA strand breaks in the egg cylinder, show increased cell death in epiblast, developmental arrest at embryonic day 6.5, morphological anomalies in visceral embryonic endoderm by day 7.5 and die by day 8.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
G |
12: 80,220,852 (GRCm39) |
|
probably null |
Het |
| Apcs |
T |
G |
1: 172,721,814 (GRCm39) |
L177F |
possibly damaging |
Het |
| Arsa |
G |
T |
15: 89,357,593 (GRCm39) |
H457N |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,170,799 (GRCm39) |
|
probably benign |
Het |
| Blnk |
T |
C |
19: 40,917,735 (GRCm39) |
Y419C |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,375,225 (GRCm39) |
D417G |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,585,775 (GRCm39) |
S1133P |
probably damaging |
Het |
| Cops2 |
T |
A |
2: 125,701,037 (GRCm39) |
|
probably benign |
Het |
| Cyp2c40 |
T |
A |
19: 39,755,899 (GRCm39) |
M472L |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,214,453 (GRCm39) |
Q379L |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,534,560 (GRCm39) |
I2019V |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,866,157 (GRCm39) |
Y1241C |
unknown |
Het |
| Dock8 |
T |
C |
19: 25,107,825 (GRCm39) |
Y852H |
probably damaging |
Het |
| Fcrlb |
T |
A |
1: 170,739,653 (GRCm39) |
Y83F |
probably damaging |
Het |
| Foxj2 |
G |
A |
6: 122,805,226 (GRCm39) |
A33T |
possibly damaging |
Het |
| Gcnt2 |
T |
C |
13: 41,014,108 (GRCm39) |
F93S |
probably damaging |
Het |
| Gm14180 |
A |
G |
11: 99,625,068 (GRCm39) |
S17P |
unknown |
Het |
| Gucy1b2 |
T |
C |
14: 62,649,265 (GRCm39) |
Q437R |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,299,430 (GRCm39) |
D707G |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,323,883 (GRCm39) |
Q509R |
probably benign |
Het |
| Npsr1 |
T |
C |
9: 24,201,258 (GRCm39) |
V214A |
probably damaging |
Het |
| Or8g51 |
T |
C |
9: 38,609,633 (GRCm39) |
T14A |
probably benign |
Het |
| Slc50a1 |
G |
A |
3: 89,177,710 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
A |
1: 75,398,880 (GRCm39) |
M2109K |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,660,129 (GRCm39) |
H722R |
probably benign |
Het |
| Vmn2r19 |
A |
G |
6: 123,308,588 (GRCm39) |
N555S |
probably damaging |
Het |
| Zscan18 |
T |
G |
7: 12,509,298 (GRCm39) |
K67N |
unknown |
Het |
|
| Other mutations in Xrcc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:Xrcc1
|
APN |
7 |
24,247,309 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01830:Xrcc1
|
APN |
7 |
24,272,767 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02349:Xrcc1
|
APN |
7 |
24,266,467 (GRCm39) |
nonsense |
probably null |
|
|
IGL02433:Xrcc1
|
APN |
7 |
24,264,979 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL03131:Xrcc1
|
APN |
7 |
24,272,719 (GRCm39) |
nonsense |
probably null |
|
|
Bilberry
|
UTSW |
7 |
24,269,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0090:Xrcc1
|
UTSW |
7 |
24,269,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0517:Xrcc1
|
UTSW |
7 |
24,269,744 (GRCm39) |
splice site |
probably benign |
|
|
R0612:Xrcc1
|
UTSW |
7 |
24,269,744 (GRCm39) |
splice site |
probably benign |
|
|
R1234:Xrcc1
|
UTSW |
7 |
24,267,270 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1577:Xrcc1
|
UTSW |
7 |
24,265,052 (GRCm39) |
nonsense |
probably null |
|
|
R1796:Xrcc1
|
UTSW |
7 |
24,247,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Xrcc1
|
UTSW |
7 |
24,270,000 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3788:Xrcc1
|
UTSW |
7 |
24,266,333 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3794:Xrcc1
|
UTSW |
7 |
24,269,985 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4806:Xrcc1
|
UTSW |
7 |
24,269,905 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5206:Xrcc1
|
UTSW |
7 |
24,266,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5414:Xrcc1
|
UTSW |
7 |
24,269,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5532:Xrcc1
|
UTSW |
7 |
24,267,353 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5624:Xrcc1
|
UTSW |
7 |
24,259,270 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5990:Xrcc1
|
UTSW |
7 |
24,267,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6603:Xrcc1
|
UTSW |
7 |
24,270,459 (GRCm39) |
nonsense |
probably null |
|
|
R6669:Xrcc1
|
UTSW |
7 |
24,246,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6716:Xrcc1
|
UTSW |
7 |
24,266,571 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6881:Xrcc1
|
UTSW |
7 |
24,246,776 (GRCm39) |
nonsense |
probably null |
|
|
R7227:Xrcc1
|
UTSW |
7 |
24,246,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8204:Xrcc1
|
UTSW |
7 |
24,271,709 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8284:Xrcc1
|
UTSW |
7 |
24,271,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8285:Xrcc1
|
UTSW |
7 |
24,271,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9015:Xrcc1
|
UTSW |
7 |
24,271,642 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9607:Xrcc1
|
UTSW |
7 |
24,265,690 (GRCm39) |
missense |
probably benign |
0.17 |
|
X0019:Xrcc1
|
UTSW |
7 |
24,272,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Xrcc1
|
UTSW |
7 |
24,272,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Xrcc1
|
UTSW |
7 |
24,247,264 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGAGCACCTTATCCTTGG -3'
(R):5'- AGCCTGGCTTTTAGCTTGAC -3'
Sequencing Primer
(F):5'- TGGTGCCTCTGCCTCGC -3'
(R):5'- GTGAGACCTGTGCCTTCCAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation