Incidental Mutation 'R6157:Xrcc6'
| ID |
501883 |
| 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 |
044304-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6157 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
81872036-81924286 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 81913305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
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 null
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 |
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 null
Transcript: ENSMUST00000230729
|
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
| Validation Efficiency |
93% (40/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,947,617 (GRCm39) |
K505E |
possibly damaging |
Het |
| Abcb1b |
A |
T |
5: 8,874,245 (GRCm39) |
N390I |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,056,077 (GRCm39) |
M1520L |
probably benign |
Het |
| Atg4c |
C |
T |
4: 99,123,400 (GRCm39) |
R396* |
probably null |
Het |
| Atp2a3 |
G |
A |
11: 72,871,442 (GRCm39) |
V648M |
probably damaging |
Het |
| Blm |
T |
C |
7: 80,162,733 (GRCm39) |
D203G |
probably benign |
Het |
| Csrnp3 |
A |
T |
2: 65,779,363 (GRCm39) |
D13V |
probably damaging |
Het |
| Dnajc10 |
A |
T |
2: 80,147,735 (GRCm39) |
|
probably benign |
Het |
| Dst |
A |
G |
1: 34,250,253 (GRCm39) |
Y1729C |
probably damaging |
Het |
| Dynlt2b |
G |
A |
16: 32,238,660 (GRCm39) |
A12T |
possibly damaging |
Het |
| Ecsit |
T |
C |
9: 21,985,987 (GRCm39) |
Y213C |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,385,880 (GRCm39) |
K654R |
probably damaging |
Het |
| Hdac9 |
G |
T |
12: 34,439,428 (GRCm39) |
A383E |
probably damaging |
Het |
| Hltf |
T |
A |
3: 20,130,660 (GRCm39) |
S293T |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,254,648 (GRCm39) |
D2359E |
probably benign |
Het |
| Inf2 |
A |
G |
12: 112,571,222 (GRCm39) |
|
probably benign |
Het |
| Kcns2 |
A |
G |
15: 34,839,504 (GRCm39) |
N289S |
possibly damaging |
Het |
| Meioc |
T |
C |
11: 102,559,227 (GRCm39) |
S50P |
probably damaging |
Het |
| Mocs1 |
G |
T |
17: 49,761,764 (GRCm39) |
E619D |
probably benign |
Het |
| Nfatc2 |
A |
G |
2: 168,361,371 (GRCm39) |
|
probably benign |
Het |
| Or51i1 |
T |
A |
7: 103,671,105 (GRCm39) |
N140I |
possibly damaging |
Het |
| Pag1 |
A |
T |
3: 9,758,896 (GRCm39) |
H407Q |
probably benign |
Het |
| Plaat1 |
A |
G |
16: 29,036,501 (GRCm39) |
I46M |
possibly damaging |
Het |
| Plcb3 |
G |
A |
19: 6,943,533 (GRCm39) |
A122V |
probably damaging |
Het |
| Pld4 |
C |
T |
12: 112,734,535 (GRCm39) |
T432I |
probably damaging |
Het |
| Psd3 |
T |
G |
8: 68,574,179 (GRCm39) |
M1L |
probably benign |
Het |
| Rasgrp2 |
C |
A |
19: 6,452,531 (GRCm39) |
L35I |
probably damaging |
Het |
| Ripor2 |
T |
C |
13: 24,885,052 (GRCm39) |
L390P |
probably damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,349,631 (GRCm39) |
E6D |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,672,244 (GRCm39) |
L1409Q |
probably damaging |
Het |
| Slc6a5 |
A |
G |
7: 49,601,250 (GRCm39) |
T684A |
probably benign |
Het |
| Smpd4 |
G |
T |
16: 17,458,930 (GRCm39) |
|
probably null |
Het |
| Snx18 |
T |
C |
13: 113,753,725 (GRCm39) |
S403G |
probably damaging |
Het |
| Spsb4 |
G |
T |
9: 96,878,160 (GRCm39) |
H54Q |
probably damaging |
Het |
| Ssrp1 |
A |
G |
2: 84,871,072 (GRCm39) |
Y236C |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,751,843 (GRCm39) |
S982N |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,675,749 (GRCm39) |
S776P |
probably damaging |
Het |
| Tln1 |
G |
A |
4: 43,534,744 (GRCm39) |
P2166S |
probably benign |
Het |
| Ufl1 |
T |
A |
4: 25,279,350 (GRCm39) |
Q83L |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,693,188 (GRCm39) |
K2458* |
probably null |
Het |
| Ush2a |
A |
T |
1: 188,460,467 (GRCm39) |
Y2576F |
probably benign |
Het |
| Zbtb48 |
A |
G |
4: 152,106,064 (GRCm39) |
F380L |
probably damaging |
Het |
| Zfp534 |
C |
T |
4: 147,758,947 (GRCm39) |
R574K |
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 |
|
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 |
|
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'- ATTTGACTCTGCCACTATGTGTGC -3'
(R):5'- TTTCCCAGGGATCTGAGCAG -3'
Sequencing Primer
(F):5'- CATCGGAATTGTGGGCACATC -3'
(R):5'- ATCTGAGCAGGGAGTCTCG -3'
|
| Posted On |
2017-12-04 |
Incidental Mutation