Incidental Mutation 'R0522:Xrcc6'
| ID |
48658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xrcc6
|
| Ensembl Gene |
ENSMUSG00000022471 |
| Gene Name |
X-ray repair complementing defective repair in Chinese hamster cells 6 |
| Synonyms |
Ku70, Ku p70, G22p1 |
| MMRRC Submission |
038715-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0522 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
81872036-81924286 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 81906793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069530]
[ENSMUST00000100399]
[ENSMUST00000164779]
[ENSMUST00000165777]
[ENSMUST00000170630]
[ENSMUST00000168581]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069530
|
| SMART Domains |
Protein: ENSMUSP00000068559
Gene: ENSMUSG00000022471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
20 |
N/A |
INTRINSIC |
|
VWA
|
32 |
246 |
1.79e0 |
SMART |
|
Ku78
|
306 |
452 |
2.91e-56 |
SMART |
|
Pfam:Ku_C
|
467 |
557 |
5e-34 |
PFAM |
|
SAP
|
571 |
605 |
2.38e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100399
|
| SMART Domains |
Protein: ENSMUSP00000097968
Gene: ENSMUSG00000022471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
20 |
N/A |
INTRINSIC |
|
VWA
|
32 |
246 |
1.79e0 |
SMART |
|
Ku78
|
306 |
452 |
2.91e-56 |
SMART |
|
Pfam:Ku_C
|
470 |
555 |
3.1e-31 |
PFAM |
|
SAP
|
571 |
605 |
2.38e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129039
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164779
|
| SMART Domains |
Protein: ENSMUSP00000127927
Gene: ENSMUSG00000022471
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ku_N
|
1 |
96 |
4.6e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164975
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165777
|
| SMART Domains |
Protein: ENSMUSP00000131212
Gene: ENSMUSG00000022471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
20 |
N/A |
INTRINSIC |
|
Pfam:Ku_N
|
35 |
106 |
7.6e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170630
|
| SMART Domains |
Protein: ENSMUSP00000126245
Gene: ENSMUSG00000022471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
20 |
N/A |
INTRINSIC |
|
Pfam:Ku_N
|
35 |
205 |
1.2e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168581
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170907
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.8%
|
| Validation Efficiency |
100% (67/67) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neuron apoptosis, decreased body size, abnormal B and T cell morphology, increased incidence of tumorigenesis, and increased cellular sensitivity to irradiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
A |
G |
8: 84,456,805 (GRCm39) |
I192T |
probably benign |
Het |
| Adgrl3 |
T |
C |
5: 81,874,648 (GRCm39) |
Y982H |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,676,561 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
T |
C |
6: 85,598,597 (GRCm39) |
V1610A |
probably benign |
Het |
| Ankrd24 |
T |
C |
10: 81,472,189 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
A |
G |
7: 100,044,429 (GRCm39) |
N337S |
probably benign |
Het |
| Cdc40 |
T |
C |
10: 40,733,608 (GRCm39) |
Y114C |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,815,957 (GRCm39) |
|
probably null |
Het |
| Cfc1 |
G |
A |
1: 34,576,234 (GRCm39) |
C98Y |
probably damaging |
Het |
| Cyp11b2 |
A |
T |
15: 74,723,533 (GRCm39) |
|
probably benign |
Het |
| Cyth4 |
C |
A |
15: 78,499,985 (GRCm39) |
H255Q |
possibly damaging |
Het |
| Degs1l |
A |
C |
1: 180,887,312 (GRCm39) |
D299A |
probably damaging |
Het |
| Dip2a |
T |
C |
10: 76,157,365 (GRCm39) |
K80R |
probably benign |
Het |
| Dnajb5 |
G |
T |
4: 42,957,083 (GRCm39) |
D257Y |
probably damaging |
Het |
| Dynll1 |
T |
C |
5: 115,438,565 (GRCm39) |
|
probably benign |
Het |
| Edn1 |
T |
A |
13: 42,458,430 (GRCm39) |
V81E |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,039,332 (GRCm39) |
S1981P |
probably damaging |
Het |
| Fam186b |
T |
A |
15: 99,178,400 (GRCm39) |
M309L |
probably benign |
Het |
| Gm14221 |
G |
A |
2: 160,416,597 (GRCm39) |
|
noncoding transcript |
Het |
| Gnptab |
T |
A |
10: 88,267,328 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
AAGAGAGAGAGAGAGA |
AAGAGAGAGAGAGA |
16: 36,735,567 (GRCm39) |
|
probably null |
Het |
| Gpr176 |
A |
G |
2: 118,114,493 (GRCm39) |
C106R |
probably damaging |
Het |
| Hdac7 |
A |
T |
15: 97,704,560 (GRCm39) |
|
probably null |
Het |
| Hlx |
T |
C |
1: 184,463,837 (GRCm39) |
S168G |
probably damaging |
Het |
| Hnf1a |
G |
T |
5: 115,088,747 (GRCm39) |
|
probably benign |
Het |
| Hp1bp3 |
C |
T |
4: 137,949,472 (GRCm39) |
L19F |
possibly damaging |
Het |
| Hspa14 |
T |
A |
2: 3,512,086 (GRCm39) |
T63S |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,708,179 (GRCm39) |
S207F |
probably damaging |
Het |
| Jak3 |
C |
A |
8: 72,134,918 (GRCm39) |
|
probably benign |
Het |
| Jmjd7 |
G |
A |
2: 119,860,822 (GRCm39) |
A91T |
probably damaging |
Het |
| Lgals9 |
G |
T |
11: 78,856,638 (GRCm39) |
H265Q |
possibly damaging |
Het |
| Lrriq1 |
T |
G |
10: 102,997,638 (GRCm39) |
N1326H |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,672,837 (GRCm39) |
Q486K |
probably benign |
Het |
| Mpeg1 |
A |
G |
19: 12,439,123 (GRCm39) |
T194A |
probably damaging |
Het |
| Nek5 |
T |
A |
8: 22,578,813 (GRCm39) |
|
probably benign |
Het |
| Pcgf2 |
A |
C |
11: 97,582,873 (GRCm39) |
I135M |
probably benign |
Het |
| Phactr1 |
G |
T |
13: 43,213,067 (GRCm39) |
A222S |
probably benign |
Het |
| Pla2r1 |
T |
C |
2: 60,309,859 (GRCm39) |
S575G |
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,341,027 (GRCm39) |
|
probably null |
Het |
| Pold3 |
A |
G |
7: 99,770,590 (GRCm39) |
V14A |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,109,899 (GRCm39) |
|
probably benign |
Het |
| Poteg |
T |
G |
8: 27,939,986 (GRCm39) |
L48V |
possibly damaging |
Het |
| Prmt1 |
A |
T |
7: 44,631,203 (GRCm39) |
C50S |
probably benign |
Het |
| Prx |
T |
A |
7: 27,217,620 (GRCm39) |
V707E |
probably damaging |
Het |
| Rrp12 |
C |
T |
19: 41,863,144 (GRCm39) |
|
probably benign |
Het |
| Saxo1 |
A |
T |
4: 86,363,340 (GRCm39) |
V381E |
probably damaging |
Het |
| Sh2d2a |
T |
C |
3: 87,754,416 (GRCm39) |
|
probably null |
Het |
| Slc26a5 |
A |
C |
5: 22,051,343 (GRCm39) |
I57R |
probably damaging |
Het |
| Slc38a3 |
T |
A |
9: 107,532,412 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,926,534 (GRCm39) |
T188A |
probably damaging |
Het |
| Slc7a13 |
A |
G |
4: 19,824,010 (GRCm39) |
I260V |
probably benign |
Het |
| Smg8 |
A |
T |
11: 86,977,288 (GRCm39) |
S98T |
probably benign |
Het |
| Spart |
T |
A |
3: 55,035,786 (GRCm39) |
S548R |
probably damaging |
Het |
| Sult6b1 |
C |
T |
17: 79,212,958 (GRCm39) |
G98S |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,649,806 (GRCm39) |
Y77H |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,172,565 (GRCm39) |
D1899V |
probably damaging |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
| Uap1l1 |
T |
C |
2: 25,253,289 (GRCm39) |
E382G |
probably damaging |
Het |
| Ugt1a10 |
C |
T |
1: 88,145,971 (GRCm39) |
P473L |
probably damaging |
Het |
| Ugt1a9 |
T |
C |
1: 87,999,114 (GRCm39) |
V188A |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,519,416 (GRCm39) |
|
probably null |
Het |
| Zfp719 |
A |
G |
7: 43,238,677 (GRCm39) |
|
probably null |
Het |
| Zfp804b |
T |
A |
5: 6,822,014 (GRCm39) |
T350S |
probably benign |
Het |
| Zfp959 |
G |
T |
17: 56,203,201 (GRCm39) |
R61M |
probably null |
Het |
|
| Other mutations in Xrcc6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00701:Xrcc6
|
APN |
15 |
81,901,401 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01394:Xrcc6
|
APN |
15 |
81,909,862 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01648:Xrcc6
|
APN |
15 |
81,909,835 (GRCm39) |
missense |
probably damaging |
0.96 |
|
rarity
|
UTSW |
15 |
81,915,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0312:Xrcc6
|
UTSW |
15 |
81,911,423 (GRCm39) |
splice site |
probably null |
|
|
R1172:Xrcc6
|
UTSW |
15 |
81,915,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1173:Xrcc6
|
UTSW |
15 |
81,915,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1218:Xrcc6
|
UTSW |
15 |
81,907,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1269:Xrcc6
|
UTSW |
15 |
81,907,048 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1677:Xrcc6
|
UTSW |
15 |
81,913,900 (GRCm39) |
missense |
probably benign |
|
|
R2049:Xrcc6
|
UTSW |
15 |
81,907,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2140:Xrcc6
|
UTSW |
15 |
81,907,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2142:Xrcc6
|
UTSW |
15 |
81,907,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3737:Xrcc6
|
UTSW |
15 |
81,913,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3870:Xrcc6
|
UTSW |
15 |
81,909,885 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3906:Xrcc6
|
UTSW |
15 |
81,913,772 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4197:Xrcc6
|
UTSW |
15 |
81,913,425 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4589:Xrcc6
|
UTSW |
15 |
81,906,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Xrcc6
|
UTSW |
15 |
81,924,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:Xrcc6
|
UTSW |
15 |
81,921,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Xrcc6
|
UTSW |
15 |
81,913,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5576:Xrcc6
|
UTSW |
15 |
81,906,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6157:Xrcc6
|
UTSW |
15 |
81,913,305 (GRCm39) |
splice site |
probably null |
|
|
R6596:Xrcc6
|
UTSW |
15 |
81,907,155 (GRCm39) |
start codon destroyed |
probably null |
0.58 |
|
R6904:Xrcc6
|
UTSW |
15 |
81,913,323 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6970:Xrcc6
|
UTSW |
15 |
81,915,375 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7098:Xrcc6
|
UTSW |
15 |
81,919,955 (GRCm39) |
nonsense |
probably null |
|
|
R7213:Xrcc6
|
UTSW |
15 |
81,901,027 (GRCm39) |
intron |
probably benign |
|
|
R7642:Xrcc6
|
UTSW |
15 |
81,900,678 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7845:Xrcc6
|
UTSW |
15 |
81,900,678 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8105:Xrcc6
|
UTSW |
15 |
81,915,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8297:Xrcc6
|
UTSW |
15 |
81,913,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8788:Xrcc6
|
UTSW |
15 |
81,911,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8947:Xrcc6
|
UTSW |
15 |
81,913,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9472:Xrcc6
|
UTSW |
15 |
81,913,328 (GRCm39) |
nonsense |
probably null |
|
|
X0063:Xrcc6
|
UTSW |
15 |
81,906,694 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1176:Xrcc6
|
UTSW |
15 |
81,913,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGCAAGTGACTTAGCAGTTCCTC -3'
(R):5'- GGGCAAACAAGAGTCAGCCAACTTC -3'
Sequencing Primer
(F):5'- atagcctcctgcctcctc -3'
(R):5'- TTCACCACAGGCTAACAGG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation