Incidental Mutation 'R4589:Xrcc6'
ID |
342703 |
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 # |
R4589 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
81872036-81924286 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 81906661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 69
(Y69N)
|
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 |
probably damaging
Transcript: ENSMUST00000069530
AA Change: Y69N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068559 Gene: ENSMUSG00000022471 AA Change: Y69N
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 damaging
Transcript: ENSMUST00000100399
AA Change: Y69N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097968 Gene: ENSMUSG00000022471 AA Change: Y69N
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 damaging
Transcript: ENSMUST00000165777
AA Change: Y69N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131212 Gene: ENSMUSG00000022471 AA Change: Y69N
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
G |
T |
16: 14,211,895 (GRCm39) |
V157L |
probably benign |
Het |
Actn1 |
G |
A |
12: 80,218,573 (GRCm39) |
T737I |
possibly damaging |
Het |
Ada |
T |
C |
2: 163,574,868 (GRCm39) |
K90E |
possibly damaging |
Het |
Ap2b1 |
T |
A |
11: 83,223,837 (GRCm39) |
L184* |
probably null |
Het |
Arfgef3 |
T |
C |
10: 18,521,947 (GRCm39) |
D693G |
probably damaging |
Het |
Arid4a |
A |
T |
12: 71,116,738 (GRCm39) |
I277F |
probably damaging |
Het |
Armh4 |
A |
G |
14: 50,011,039 (GRCm39) |
S223P |
probably damaging |
Het |
Ccdc171 |
A |
G |
4: 83,467,855 (GRCm39) |
S67G |
probably benign |
Het |
Ccr5 |
T |
A |
9: 123,924,539 (GRCm39) |
F47L |
probably benign |
Het |
Clip4 |
T |
A |
17: 72,117,862 (GRCm39) |
C302* |
probably null |
Het |
Cyth1 |
C |
T |
11: 118,075,811 (GRCm39) |
V142I |
possibly damaging |
Het |
Ddx59 |
T |
A |
1: 136,367,480 (GRCm39) |
|
probably null |
Het |
Def6 |
G |
T |
17: 28,447,121 (GRCm39) |
R584L |
probably benign |
Het |
Dnah7c |
C |
A |
1: 46,553,743 (GRCm39) |
Y340* |
probably null |
Het |
Eif2ak4 |
T |
G |
2: 118,247,819 (GRCm39) |
C173W |
probably damaging |
Het |
Gm14403 |
C |
T |
2: 177,200,428 (GRCm39) |
H125Y |
probably benign |
Het |
Grk3 |
T |
C |
5: 113,089,584 (GRCm39) |
I323V |
possibly damaging |
Het |
Homez |
G |
T |
14: 55,094,487 (GRCm39) |
T407K |
probably damaging |
Het |
Igdcc4 |
A |
G |
9: 65,037,910 (GRCm39) |
T763A |
probably damaging |
Het |
Ighg2b |
A |
T |
12: 113,270,104 (GRCm39) |
W305R |
unknown |
Het |
Il27ra |
G |
T |
8: 84,763,038 (GRCm39) |
N296K |
probably damaging |
Het |
Lzic |
G |
T |
4: 149,572,561 (GRCm39) |
L50F |
probably damaging |
Het |
Mbtd1 |
T |
C |
11: 93,812,245 (GRCm39) |
V183A |
probably damaging |
Het |
Mme |
T |
A |
3: 63,287,693 (GRCm39) |
D731E |
probably benign |
Het |
Mocos |
T |
C |
18: 24,787,095 (GRCm39) |
L38P |
probably damaging |
Het |
Mrps18a |
T |
C |
17: 46,428,899 (GRCm39) |
|
probably null |
Het |
Msh2 |
T |
A |
17: 87,987,460 (GRCm39) |
V200D |
possibly damaging |
Het |
Mug1 |
A |
T |
6: 121,834,310 (GRCm39) |
I364F |
probably benign |
Het |
Mycbp2 |
G |
T |
14: 103,414,749 (GRCm39) |
S2554R |
probably benign |
Het |
Nat10 |
A |
G |
2: 103,584,415 (GRCm39) |
C121R |
probably damaging |
Het |
Nfatc3 |
T |
A |
8: 106,805,705 (GRCm39) |
D183E |
probably damaging |
Het |
Odr4 |
C |
T |
1: 150,260,238 (GRCm39) |
V127I |
probably benign |
Het |
Or4d10c |
T |
C |
19: 12,065,305 (GRCm39) |
I284V |
possibly damaging |
Het |
Or51ac3 |
A |
T |
7: 103,213,639 (GRCm39) |
F282L |
probably damaging |
Het |
Or52h1 |
C |
A |
7: 103,828,636 (GRCm39) |
|
probably null |
Het |
Or5d14 |
T |
C |
2: 87,880,823 (GRCm39) |
I48M |
probably benign |
Het |
Pak6 |
T |
A |
2: 118,527,021 (GRCm39) |
I672K |
probably damaging |
Het |
Pan3 |
A |
T |
5: 147,479,983 (GRCm39) |
I830F |
probably damaging |
Het |
Pcdh9 |
A |
T |
14: 94,125,628 (GRCm39) |
L181I |
probably damaging |
Het |
Pigg |
G |
A |
5: 108,480,556 (GRCm39) |
A447T |
probably benign |
Het |
Pitpnb |
T |
A |
5: 111,519,214 (GRCm39) |
S165T |
probably damaging |
Het |
Pla2g2a |
A |
G |
4: 138,560,590 (GRCm39) |
Y67C |
probably damaging |
Het |
Plch1 |
A |
G |
3: 63,688,928 (GRCm39) |
I80T |
probably damaging |
Het |
Pnma1 |
A |
G |
12: 84,194,235 (GRCm39) |
I156T |
probably benign |
Het |
Prss21 |
G |
T |
17: 24,091,796 (GRCm39) |
D255Y |
possibly damaging |
Het |
Prune1 |
T |
A |
3: 95,169,642 (GRCm39) |
I187F |
possibly damaging |
Het |
Rab7b |
T |
C |
1: 131,633,385 (GRCm39) |
F78L |
probably benign |
Het |
Riok3 |
T |
A |
18: 12,269,844 (GRCm39) |
Y92N |
probably benign |
Het |
Rpap2 |
T |
C |
5: 107,768,361 (GRCm39) |
S400P |
probably benign |
Het |
Ryr3 |
C |
A |
2: 112,705,478 (GRCm39) |
G792V |
probably damaging |
Het |
Septin3 |
A |
G |
15: 82,170,092 (GRCm39) |
E206G |
probably damaging |
Het |
Stkld1 |
T |
C |
2: 26,840,679 (GRCm39) |
S454P |
probably damaging |
Het |
Tdh |
A |
T |
14: 63,733,326 (GRCm39) |
L140Q |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,047,401 (GRCm39) |
H159Q |
probably damaging |
Het |
Tmed6 |
C |
T |
8: 107,790,793 (GRCm39) |
V85I |
probably benign |
Het |
Vmn1r174 |
T |
A |
7: 23,454,204 (GRCm39) |
L290* |
probably null |
Het |
Vmn1r31 |
A |
G |
6: 58,449,596 (GRCm39) |
S90P |
probably damaging |
Het |
Vmn2r55 |
T |
C |
7: 12,404,822 (GRCm39) |
T194A |
probably damaging |
Het |
Vmn2r82 |
A |
T |
10: 79,192,548 (GRCm39) |
I42F |
probably damaging |
Het |
Vps35 |
G |
A |
8: 86,014,331 (GRCm39) |
P106L |
probably damaging |
Het |
Zbtb14 |
C |
T |
17: 69,695,465 (GRCm39) |
P388S |
probably damaging |
Het |
Zfp541 |
C |
T |
7: 15,817,261 (GRCm39) |
A902V |
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 |
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 |
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'- GCAGTCGACTCTTAATGTGTATG -3'
(R):5'- AAAGCTGCTTCCTCCTCCAG -3'
Sequencing Primer
(F):5'- GTGCCTACCATGCGTAAAGTCATG -3'
(R):5'- AGGGCCCTCTTTTGTTCACCTTAG -3'
|
Posted On |
2015-09-24 |