Incidental Mutation 'R8297:Xrcc6'
ID |
639038 |
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 |
067853-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8297 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
81872036-81924286 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 81913463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 365
(F365L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068559
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069530]
[ENSMUST00000100399]
[ENSMUST00000164779]
[ENSMUST00000170630]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069530
AA Change: F365L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068559 Gene: ENSMUSG00000022471 AA Change: F365L
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: F365L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097968 Gene: ENSMUSG00000022471 AA Change: F365L
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 |
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: 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 |
|
Meta Mutation Damage Score |
0.9382 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (61/61) |
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 |
1700020N01Rik |
T |
C |
10: 21,497,578 (GRCm39) |
L73P |
probably damaging |
Het |
4933412E24Rik |
T |
G |
15: 59,887,524 (GRCm39) |
R305S |
probably damaging |
Het |
Adamts19 |
T |
A |
18: 58,970,920 (GRCm39) |
V168E |
probably damaging |
Het |
Ankrd34b |
T |
A |
13: 92,576,097 (GRCm39) |
L443Q |
probably damaging |
Het |
Ano3 |
A |
G |
2: 110,491,616 (GRCm39) |
Y887H |
probably damaging |
Het |
Arhgef2 |
A |
T |
3: 88,546,739 (GRCm39) |
H553L |
probably benign |
Het |
Atxn1 |
G |
T |
13: 45,720,505 (GRCm39) |
N463K |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,932,099 (GRCm39) |
|
probably null |
Het |
C4bp |
A |
G |
1: 130,564,482 (GRCm39) |
S401P |
probably damaging |
Het |
Cd5 |
T |
A |
19: 10,697,609 (GRCm39) |
R457W |
probably damaging |
Het |
Chek2 |
T |
G |
5: 110,996,302 (GRCm39) |
Y127D |
probably damaging |
Het |
Clec4a1 |
G |
A |
6: 122,898,960 (GRCm39) |
V10M |
probably damaging |
Het |
Cltc |
A |
G |
11: 86,603,457 (GRCm39) |
Y790H |
probably damaging |
Het |
Cops2 |
T |
C |
2: 125,701,028 (GRCm39) |
|
probably benign |
Het |
Cyb5d2 |
A |
G |
11: 72,679,929 (GRCm39) |
F122S |
probably damaging |
Het |
Daam1 |
T |
A |
12: 71,998,689 (GRCm39) |
L548H |
unknown |
Het |
Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
Dsg1a |
A |
C |
18: 20,465,090 (GRCm39) |
N427T |
probably benign |
Het |
Ear14 |
A |
T |
14: 51,441,564 (GRCm39) |
D140V |
probably damaging |
Het |
Epha4 |
A |
C |
1: 77,483,547 (GRCm39) |
F154C |
probably damaging |
Het |
Ets2 |
G |
A |
16: 95,507,321 (GRCm39) |
V12M |
probably damaging |
Het |
Fbxo40 |
G |
A |
16: 36,789,670 (GRCm39) |
T480I |
probably damaging |
Het |
Fdps |
A |
T |
3: 89,001,048 (GRCm39) |
Y322N |
probably damaging |
Het |
Gca |
T |
C |
2: 62,516,700 (GRCm39) |
M132T |
probably benign |
Het |
Ifi203 |
T |
G |
1: 173,765,496 (GRCm39) |
K26T |
probably damaging |
Het |
Itga10 |
A |
G |
3: 96,562,116 (GRCm39) |
R668G |
probably damaging |
Het |
Itgal |
T |
C |
7: 126,929,638 (GRCm39) |
I1185T |
unknown |
Het |
Kcnj13 |
A |
T |
1: 87,314,189 (GRCm39) |
N344K |
probably damaging |
Het |
Kdm5a |
A |
T |
6: 120,358,516 (GRCm39) |
L186F |
probably benign |
Het |
Klhl8 |
T |
C |
5: 104,010,954 (GRCm39) |
N624D |
probably benign |
Het |
Klrb1 |
G |
T |
6: 128,689,222 (GRCm39) |
T83K |
possibly damaging |
Het |
Krt77 |
TGCCGCCGCCGCCGCCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCGCCGC |
15: 101,768,407 (GRCm39) |
|
probably benign |
Het |
Ltb |
G |
T |
17: 35,413,655 (GRCm39) |
R53L |
probably benign |
Het |
Mterf3 |
A |
G |
13: 67,055,222 (GRCm39) |
V69A |
|
Het |
Mvb12a |
A |
G |
8: 71,997,888 (GRCm39) |
K101E |
probably damaging |
Het |
Nbeal2 |
T |
A |
9: 110,464,409 (GRCm39) |
Q1110L |
possibly damaging |
Het |
Neb |
T |
A |
2: 52,198,775 (GRCm39) |
T389S |
possibly damaging |
Het |
Nol4 |
A |
G |
18: 23,173,069 (GRCm39) |
F11L |
probably damaging |
Het |
Or10p22 |
T |
C |
10: 128,826,708 (GRCm39) |
L309P |
possibly damaging |
Het |
Or2a54 |
A |
G |
6: 43,093,440 (GRCm39) |
I255V |
probably benign |
Het |
Or2h15 |
A |
G |
17: 38,441,484 (GRCm39) |
S200P |
probably damaging |
Het |
Or52e8b |
C |
T |
7: 104,673,885 (GRCm39) |
G97R |
probably benign |
Het |
Pde2a |
T |
A |
7: 101,153,880 (GRCm39) |
Y487N |
possibly damaging |
Het |
Pde4a |
C |
T |
9: 21,077,404 (GRCm39) |
P61S |
possibly damaging |
Het |
Pramel16 |
T |
A |
4: 143,675,690 (GRCm39) |
T379S |
probably benign |
Het |
Prr5l |
A |
G |
2: 101,571,630 (GRCm39) |
|
probably null |
Het |
Ptpn6 |
G |
A |
6: 124,705,614 (GRCm39) |
T179I |
possibly damaging |
Het |
Ralyl |
T |
C |
3: 14,104,836 (GRCm39) |
S34P |
probably benign |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Robo2 |
A |
T |
16: 73,812,814 (GRCm39) |
C293* |
probably null |
Het |
Rtn4 |
T |
G |
11: 29,655,536 (GRCm39) |
D169E |
probably damaging |
Het |
Slc22a22 |
A |
T |
15: 57,122,506 (GRCm39) |
V157E |
probably damaging |
Het |
Sytl2 |
A |
G |
7: 90,034,283 (GRCm39) |
T498A |
probably benign |
Het |
Tgm6 |
G |
A |
2: 129,979,358 (GRCm39) |
V163I |
probably benign |
Het |
Tnpo3 |
A |
T |
6: 29,582,302 (GRCm39) |
C187S |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,616,485 (GRCm39) |
|
probably null |
Het |
Tut4 |
G |
A |
4: 108,336,905 (GRCm39) |
A210T |
possibly damaging |
Het |
Vangl2 |
C |
A |
1: 171,837,513 (GRCm39) |
V99F |
possibly damaging |
Het |
Vmn1r167 |
C |
T |
7: 23,204,215 (GRCm39) |
C267Y |
probably damaging |
Het |
Vsig10l |
T |
C |
7: 43,113,531 (GRCm39) |
V161A |
possibly damaging |
Het |
Xrcc5 |
G |
A |
1: 72,364,244 (GRCm39) |
R232Q |
possibly damaging |
Het |
Zdhhc13 |
A |
G |
7: 48,465,257 (GRCm39) |
Y389C |
probably damaging |
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 |
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 |
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'- GCATCTCTTGTAGGTATCTCAGCC -3'
Sequencing Primer
(F):5'- GGCCGCAGATTCATCTCCAC -3'
(R):5'- GGTATCTCAGCCATTTAGGAAACAC -3'
|
Posted On |
2020-07-28 |