Incidental Mutation 'R5356:Xrcc6'
ID |
424127 |
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 |
042935-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5356 (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 G
at 81913419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 6
(T6A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155606
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069530]
[ENSMUST00000100399]
[ENSMUST00000164779]
[ENSMUST00000230729]
[ENSMUST00000170630]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069530
AA Change: T351A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000068559 Gene: ENSMUSG00000022471 AA Change: T351A
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
AA Change: T351A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000097968 Gene: ENSMUSG00000022471 AA Change: T351A
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 |
noncoding transcript
Transcript: ENSMUST00000164775
|
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: ENSMUST00000164920
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166311
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170907
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230729
AA Change: T6A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
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 |
Adad1 |
C |
T |
3: 37,119,405 (GRCm39) |
T162I |
probably damaging |
Het |
Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
Amn1 |
T |
C |
6: 149,068,392 (GRCm39) |
I205M |
possibly damaging |
Het |
Ankrd50 |
A |
C |
3: 38,510,334 (GRCm39) |
S678A |
probably damaging |
Het |
Atg13 |
G |
A |
2: 91,522,811 (GRCm39) |
R78* |
probably null |
Het |
Bmper |
T |
G |
9: 23,285,157 (GRCm39) |
F235L |
probably benign |
Het |
Btn2a2 |
C |
T |
13: 23,667,045 (GRCm39) |
V187I |
probably benign |
Het |
Cabs1 |
G |
A |
5: 88,127,492 (GRCm39) |
V48I |
probably benign |
Het |
Cacnb3 |
A |
G |
15: 98,539,498 (GRCm39) |
I212V |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
Cep162 |
T |
C |
9: 87,088,948 (GRCm39) |
E978G |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,199,993 (GRCm39) |
L3445Q |
probably damaging |
Het |
Cntrl |
T |
A |
2: 35,038,911 (GRCm39) |
L1067* |
probably null |
Het |
Cyp20a1 |
G |
A |
1: 60,418,546 (GRCm39) |
V329I |
probably benign |
Het |
Cyp2d11 |
A |
T |
15: 82,274,712 (GRCm39) |
N288K |
probably benign |
Het |
D430041D05Rik |
T |
G |
2: 104,085,754 (GRCm39) |
T932P |
probably damaging |
Het |
Dlk1 |
T |
A |
12: 109,421,447 (GRCm39) |
C54S |
probably damaging |
Het |
Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
Entpd6 |
T |
A |
2: 150,612,303 (GRCm39) |
F416L |
probably damaging |
Het |
Evx1 |
A |
G |
6: 52,293,602 (GRCm39) |
T257A |
probably benign |
Het |
Fpr-rs3 |
A |
T |
17: 20,844,596 (GRCm39) |
S182T |
probably damaging |
Het |
Glra3 |
A |
T |
8: 56,393,936 (GRCm39) |
I16F |
probably benign |
Het |
Gm11437 |
C |
A |
11: 84,043,513 (GRCm39) |
L259F |
possibly damaging |
Het |
Gorasp1 |
A |
T |
9: 119,757,024 (GRCm39) |
L386Q |
probably damaging |
Het |
Gpsm1 |
T |
C |
2: 26,230,574 (GRCm39) |
V508A |
possibly damaging |
Het |
Gstm1 |
T |
A |
3: 107,920,052 (GRCm39) |
I180F |
probably benign |
Het |
Hc |
T |
C |
2: 34,885,007 (GRCm39) |
D1400G |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,295,052 (GRCm39) |
V3422A |
possibly damaging |
Het |
Map3k4 |
A |
G |
17: 12,466,195 (GRCm39) |
V1128A |
possibly damaging |
Het |
Mboat2 |
G |
C |
12: 25,007,572 (GRCm39) |
V363L |
probably benign |
Het |
Mgat3 |
A |
G |
15: 80,095,811 (GRCm39) |
I213V |
possibly damaging |
Het |
Mgat3 |
A |
G |
15: 80,096,655 (GRCm39) |
N494S |
probably damaging |
Het |
Mtf2 |
A |
T |
5: 108,254,476 (GRCm39) |
T426S |
possibly damaging |
Het |
Muc3a |
T |
C |
5: 137,245,021 (GRCm39) |
I151V |
probably benign |
Het |
Myh6 |
T |
C |
14: 55,191,219 (GRCm39) |
E874G |
probably damaging |
Het |
Myo15a |
G |
A |
11: 60,389,192 (GRCm39) |
G2030R |
probably damaging |
Het |
Ncdn |
T |
C |
4: 126,641,021 (GRCm39) |
Y493C |
probably damaging |
Het |
Ncoa6 |
A |
G |
2: 155,263,112 (GRCm39) |
F441L |
probably damaging |
Het |
Ndc80 |
A |
T |
17: 71,828,103 (GRCm39) |
S75T |
possibly damaging |
Het |
Nf1 |
T |
C |
11: 79,364,282 (GRCm39) |
F1571L |
possibly damaging |
Het |
Nherf2 |
A |
G |
17: 24,860,945 (GRCm39) |
V88A |
probably damaging |
Het |
Nme8 |
A |
G |
13: 19,836,469 (GRCm39) |
F236L |
probably damaging |
Het |
Nsmce4a |
C |
A |
7: 130,138,778 (GRCm39) |
V289L |
probably damaging |
Het |
Ntrk2 |
A |
T |
13: 59,208,056 (GRCm39) |
D634V |
probably damaging |
Het |
Pcsk6 |
G |
C |
7: 65,620,340 (GRCm39) |
E479Q |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,812,551 (GRCm39) |
Q3828R |
probably damaging |
Het |
Ptov1 |
T |
A |
7: 44,514,089 (GRCm39) |
T295S |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,083,535 (GRCm39) |
M824T |
probably benign |
Het |
Rbm6 |
T |
A |
9: 107,729,865 (GRCm39) |
H129L |
probably damaging |
Het |
Rbm8a2 |
A |
G |
1: 175,806,255 (GRCm39) |
I74T |
possibly damaging |
Het |
Ret |
A |
G |
6: 118,174,079 (GRCm39) |
S6P |
possibly damaging |
Het |
Rspo3 |
A |
T |
10: 29,376,064 (GRCm39) |
C70* |
probably null |
Het |
Sike1 |
C |
A |
3: 102,909,106 (GRCm39) |
A202D |
possibly damaging |
Het |
Slco4c1 |
G |
T |
1: 96,759,835 (GRCm39) |
P499H |
probably damaging |
Het |
Smg1 |
A |
G |
7: 117,794,356 (GRCm39) |
|
probably benign |
Het |
Tmem135 |
A |
G |
7: 88,954,723 (GRCm39) |
V98A |
probably benign |
Het |
Tor4a |
T |
A |
2: 25,085,918 (GRCm39) |
|
probably null |
Het |
Txlna |
A |
G |
4: 129,524,166 (GRCm39) |
F397S |
probably damaging |
Het |
Tyk2 |
A |
G |
9: 21,027,040 (GRCm39) |
I581T |
probably benign |
Het |
Unc13a |
C |
T |
8: 72,115,158 (GRCm39) |
D164N |
probably benign |
Het |
Vwa3b |
T |
C |
1: 37,153,664 (GRCm39) |
I502T |
probably damaging |
Het |
Zfp524 |
T |
C |
7: 5,021,432 (GRCm39) |
V320A |
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 |
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 |
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'- TTGGTGGCCGCAGATTCATC -3'
(R):5'- TGCATCTCTTGTAGGTATCTCAG -3'
Sequencing Primer
(F):5'- GGCCGCAGATTCATCTCCAC -3'
(R):5'- GGTATCTCAGCCATTTAGGAAACAC -3'
|
Posted On |
2016-08-04 |