Incidental Mutation 'R1269:Xrcc6'
ID |
151258 |
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1269 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
81872036-81924286 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 81907048 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 123
(Q123H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097968
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069530]
[ENSMUST00000100399]
[ENSMUST00000164779]
[ENSMUST00000165777]
[ENSMUST00000170630]
[ENSMUST00000168581]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069530
AA Change: Q123H
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000068559 Gene: ENSMUSG00000022471 AA Change: Q123H
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 |
possibly damaging
Transcript: ENSMUST00000100399
AA Change: Q123H
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000097968 Gene: ENSMUSG00000022471 AA Change: Q123H
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 |
noncoding transcript
Transcript: ENSMUST00000170907
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168581
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
Validation Efficiency |
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
C |
T |
11: 94,248,210 (GRCm39) |
R1129Q |
probably damaging |
Het |
Brd8 |
C |
T |
18: 34,742,857 (GRCm39) |
|
probably null |
Het |
Ccdc9b |
C |
T |
2: 118,591,871 (GRCm39) |
E90K |
possibly damaging |
Het |
Dnah5 |
G |
A |
15: 28,238,657 (GRCm39) |
V400M |
probably damaging |
Het |
Epc2 |
T |
A |
2: 49,412,588 (GRCm39) |
S189T |
probably benign |
Het |
Inpp4a |
T |
C |
1: 37,428,823 (GRCm39) |
S83P |
probably benign |
Het |
Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Mbtps1 |
T |
C |
8: 120,247,016 (GRCm39) |
D809G |
probably damaging |
Het |
Nbea |
T |
C |
3: 55,912,202 (GRCm39) |
E1195G |
probably benign |
Het |
Nfasc |
G |
T |
1: 132,538,526 (GRCm39) |
P454T |
probably damaging |
Het |
Nlrp4e |
T |
A |
7: 23,052,763 (GRCm39) |
I894N |
possibly damaging |
Het |
Picalm |
A |
T |
7: 89,814,757 (GRCm39) |
R129* |
probably null |
Het |
Plekhg3 |
T |
C |
12: 76,607,243 (GRCm39) |
I101T |
probably damaging |
Het |
Pstpip1 |
A |
G |
9: 56,021,590 (GRCm39) |
D38G |
probably damaging |
Het |
Sec13 |
A |
G |
6: 113,714,956 (GRCm39) |
S3P |
probably damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Sytl1 |
A |
T |
4: 132,983,426 (GRCm39) |
L370Q |
probably damaging |
Het |
Tenm2 |
T |
A |
11: 35,899,185 (GRCm39) |
I2658F |
possibly damaging |
Het |
Tmc5 |
A |
G |
7: 118,265,816 (GRCm39) |
M769V |
probably benign |
Het |
Tspan8 |
A |
G |
10: 115,685,287 (GRCm39) |
I232V |
probably damaging |
Het |
Wbp1 |
G |
A |
6: 83,096,584 (GRCm39) |
T156I |
probably benign |
Het |
Wfikkn2 |
T |
C |
11: 94,129,301 (GRCm39) |
Y280C |
probably damaging |
Het |
Zfp526 |
T |
C |
7: 24,923,788 (GRCm39) |
S16P |
probably benign |
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 |
|
R0522:Xrcc6
|
UTSW |
15 |
81,906,793 (GRCm39) |
splice site |
probably benign |
|
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 |
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'- TTGGTTTCCTGCACAGAAGGTCCCTC -3'
(R):5'- TGCACAGACGTGCATTTAAAACCCC -3'
Sequencing Primer
(F):5'- ACAGAAGGTCCCTCCACTC -3'
(R):5'- gatgcctcttctgactccac -3'
|
Posted On |
2014-01-29 |