Incidental Mutation 'R1004:Xrcc5'
| ID |
97894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xrcc5
|
| Ensembl Gene |
ENSMUSG00000026187 |
| Gene Name |
X-ray repair complementing defective repair in Chinese hamster cells 5 |
| Synonyms |
Ku86, Ku80 |
| MMRRC Submission |
039114-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1004 (G1)
|
| Quality Score |
211 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
72346586-72434111 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 72422937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027379]
|
| AlphaFold |
P27641 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027379
|
| SMART Domains |
Protein: ENSMUSP00000027379
Gene: ENSMUSG00000026187
| Domain | Start | End | E-Value | Type |
|---|
|
VWA
|
7 |
245 |
8.07e-2 |
SMART |
|
Ku78
|
302 |
441 |
8.9e-52 |
SMART |
|
Pfam:Ku_C
|
476 |
570 |
6.9e-23 |
PFAM |
|
Pfam:Ku_PK_bind
|
594 |
707 |
9.3e-31 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants are defective in DNA double-strand break repair and show impaired growth and severe combined immunodeficiency due to defective assembly of TCRs and immunoglobulins. Mutants die early with osteopenia, atrophic skin and hepatic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,042,780 (GRCm39) |
I423T |
possibly damaging |
Het |
| Agbl3 |
A |
T |
6: 34,780,386 (GRCm39) |
E453V |
probably damaging |
Het |
| Agxt |
A |
G |
1: 93,063,421 (GRCm39) |
M108V |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,337,034 (GRCm39) |
I831T |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,414,586 (GRCm39) |
M1215T |
unknown |
Het |
| Cd163 |
G |
T |
6: 124,302,306 (GRCm39) |
D957Y |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 105,656,370 (GRCm39) |
D200G |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,902,558 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,888,671 (GRCm39) |
|
probably benign |
Het |
| Dlx6 |
C |
T |
6: 6,863,665 (GRCm39) |
Q96* |
probably null |
Het |
| Dpp4 |
T |
A |
2: 62,162,984 (GRCm39) |
Q754L |
probably benign |
Het |
| Ece1 |
A |
G |
4: 137,653,550 (GRCm39) |
T100A |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,677,544 (GRCm39) |
V779M |
possibly damaging |
Het |
| Gatm |
C |
T |
2: 122,440,141 (GRCm39) |
|
probably benign |
Het |
| Gpc2 |
A |
G |
5: 138,276,487 (GRCm39) |
L213P |
probably damaging |
Het |
| Hook1 |
A |
C |
4: 95,910,524 (GRCm39) |
N713H |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,516,642 (GRCm39) |
I178K |
possibly damaging |
Het |
| Mettl9 |
G |
A |
7: 120,675,460 (GRCm39) |
V287I |
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,378,353 (GRCm39) |
T3774I |
probably benign |
Het |
| Nup58 |
C |
A |
14: 60,484,930 (GRCm39) |
|
probably benign |
Het |
| Nxf1 |
A |
T |
19: 8,741,681 (GRCm39) |
T119S |
probably benign |
Het |
| Oaz3 |
T |
A |
3: 94,342,350 (GRCm39) |
H102L |
probably damaging |
Het |
| Or8g2b |
T |
C |
9: 39,751,276 (GRCm39) |
F182S |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,789 (GRCm39) |
Q680L |
probably benign |
Het |
| Poli |
T |
A |
18: 70,658,509 (GRCm39) |
Q75L |
probably benign |
Het |
| Ppp2r3d |
C |
T |
9: 101,075,829 (GRCm39) |
|
probably null |
Het |
| Prr30 |
A |
G |
14: 101,436,529 (GRCm39) |
L11P |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,688,493 (GRCm39) |
Y345F |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,579,757 (GRCm39) |
N1233S |
probably benign |
Het |
| Serpinb9f |
TA |
"TTTNA,T" |
13: 33,518,225 (GRCm39) |
|
probably benign |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Skp1 |
G |
C |
11: 52,128,207 (GRCm39) |
|
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,320,786 (GRCm39) |
K528R |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,595,763 (GRCm39) |
N35S |
probably damaging |
Het |
| Tcstv2c |
T |
A |
13: 120,616,558 (GRCm39) |
D132E |
probably benign |
Het |
| Zfp235 |
T |
A |
7: 23,840,169 (GRCm39) |
L266Q |
probably damaging |
Het |
| Zfp600 |
T |
A |
4: 146,133,103 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Xrcc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01396:Xrcc5
|
APN |
1 |
72,393,404 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01599:Xrcc5
|
APN |
1 |
72,385,508 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01714:Xrcc5
|
APN |
1 |
72,369,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02740:Xrcc5
|
APN |
1 |
72,379,240 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02884:Xrcc5
|
APN |
1 |
72,385,396 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
barbarian
|
UTSW |
1 |
72,353,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
durio
|
UTSW |
1 |
72,378,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Highlander
|
UTSW |
1 |
72,358,286 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
monoculture
|
UTSW |
1 |
72,382,189 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
xenophobe
|
UTSW |
1 |
72,351,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
zibethinus
|
UTSW |
1 |
72,349,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4362001:Xrcc5
|
UTSW |
1 |
72,433,088 (GRCm39) |
missense |
probably benign |
|
|
R0309:Xrcc5
|
UTSW |
1 |
72,346,735 (GRCm39) |
unclassified |
probably benign |
|
|
R0485:Xrcc5
|
UTSW |
1 |
72,378,104 (GRCm39) |
splice site |
probably benign |
|
|
R1421:Xrcc5
|
UTSW |
1 |
72,349,636 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1530:Xrcc5
|
UTSW |
1 |
72,369,103 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1694:Xrcc5
|
UTSW |
1 |
72,358,255 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1750:Xrcc5
|
UTSW |
1 |
72,364,246 (GRCm39) |
nonsense |
probably null |
|
|
R2037:Xrcc5
|
UTSW |
1 |
72,385,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2296:Xrcc5
|
UTSW |
1 |
72,385,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4299:Xrcc5
|
UTSW |
1 |
72,433,879 (GRCm39) |
makesense |
probably null |
|
|
R4388:Xrcc5
|
UTSW |
1 |
72,369,189 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4527:Xrcc5
|
UTSW |
1 |
72,351,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4857:Xrcc5
|
UTSW |
1 |
72,365,424 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5073:Xrcc5
|
UTSW |
1 |
72,378,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5233:Xrcc5
|
UTSW |
1 |
72,379,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5521:Xrcc5
|
UTSW |
1 |
72,385,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5996:Xrcc5
|
UTSW |
1 |
72,349,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6583:Xrcc5
|
UTSW |
1 |
72,351,752 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6638:Xrcc5
|
UTSW |
1 |
72,422,521 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6935:Xrcc5
|
UTSW |
1 |
72,382,189 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7046:Xrcc5
|
UTSW |
1 |
72,433,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7446:Xrcc5
|
UTSW |
1 |
72,433,132 (GRCm39) |
splice site |
probably null |
|
|
R7473:Xrcc5
|
UTSW |
1 |
72,351,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7875:Xrcc5
|
UTSW |
1 |
72,369,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7889:Xrcc5
|
UTSW |
1 |
72,395,985 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8088:Xrcc5
|
UTSW |
1 |
72,351,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8179:Xrcc5
|
UTSW |
1 |
72,396,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8297:Xrcc5
|
UTSW |
1 |
72,364,244 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8309:Xrcc5
|
UTSW |
1 |
72,358,286 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8717:Xrcc5
|
UTSW |
1 |
72,422,905 (GRCm39) |
missense |
probably benign |
|
|
R8775:Xrcc5
|
UTSW |
1 |
72,433,089 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8775-TAIL:Xrcc5
|
UTSW |
1 |
72,433,089 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8798:Xrcc5
|
UTSW |
1 |
72,353,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Xrcc5
|
UTSW |
1 |
72,382,190 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8892:Xrcc5
|
UTSW |
1 |
72,382,190 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9527:Xrcc5
|
UTSW |
1 |
72,369,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCCAGTTTTCAGAAGAACAGCG -3'
(R):5'- AGTTACTGAAGCCAGGACTACAGGTG -3'
Sequencing Primer
(F):5'- atgcatgtttgtatgtttgGGG -3'
(R):5'- CAGGACTACAGGTGGCTTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation