Incidental Mutation 'IGL02884:Xrcc5'
| ID |
362937 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xrcc5
|
| Ensembl Gene |
ENSMUSG00000026187 |
| Gene Name |
X-ray repair complementing defective repair in Chinese hamster cells 5 |
| Synonyms |
Ku86, Ku80 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02884
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
72346586-72434111 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72385396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 496
(H496Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027379]
|
| AlphaFold |
P27641 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027379
AA Change: H496Y
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027379
Gene: ENSMUSG00000026187
AA Change: H496Y
| 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 |
|
| Validation Efficiency |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
A |
G |
11: 58,178,302 (GRCm39) |
I121V |
probably benign |
Het |
| Adprh |
C |
T |
16: 38,266,396 (GRCm39) |
V249I |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,736,402 (GRCm39) |
M1797K |
probably benign |
Het |
| Akap6 |
T |
A |
12: 52,933,405 (GRCm39) |
I299N |
probably benign |
Het |
| Akr1c12 |
A |
T |
13: 4,322,211 (GRCm39) |
M277K |
possibly damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,412,616 (GRCm39) |
M1236K |
probably damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,635,313 (GRCm39) |
D874G |
probably damaging |
Het |
| Atg4b |
T |
C |
1: 93,715,437 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
G |
A |
3: 97,117,368 (GRCm39) |
P442L |
probably damaging |
Het |
| Ccdc107 |
A |
T |
4: 43,495,228 (GRCm39) |
K98* |
probably null |
Het |
| Cenpl |
A |
G |
1: 160,913,619 (GRCm39) |
Q343R |
probably benign |
Het |
| Cep104 |
T |
C |
4: 154,074,319 (GRCm39) |
C524R |
probably damaging |
Het |
| Clec3b |
C |
T |
9: 122,985,827 (GRCm39) |
T75I |
probably benign |
Het |
| Col13a1 |
A |
T |
10: 61,741,064 (GRCm39) |
|
probably benign |
Het |
| Crot |
C |
T |
5: 9,028,197 (GRCm39) |
|
probably null |
Het |
| Ddo |
G |
A |
10: 40,513,360 (GRCm39) |
V101I |
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,618,032 (GRCm39) |
|
probably benign |
Het |
| Dnmt3b |
A |
C |
2: 153,516,297 (GRCm39) |
Y474S |
probably damaging |
Het |
| Dpp6 |
T |
A |
5: 27,839,554 (GRCm39) |
N298K |
possibly damaging |
Het |
| Fbf1 |
C |
T |
11: 116,037,339 (GRCm39) |
E940K |
probably damaging |
Het |
| Fgd6 |
A |
G |
10: 93,881,501 (GRCm39) |
|
probably benign |
Het |
| H2-M10.2 |
T |
C |
17: 36,595,568 (GRCm39) |
R241G |
probably damaging |
Het |
| Haghl |
A |
T |
17: 26,002,072 (GRCm39) |
F207Y |
possibly damaging |
Het |
| Helt |
G |
A |
8: 46,745,620 (GRCm39) |
R88C |
probably damaging |
Het |
| Igf2bp2 |
T |
C |
16: 21,981,635 (GRCm39) |
K27E |
probably benign |
Het |
| Il1b |
T |
C |
2: 129,207,022 (GRCm39) |
H246R |
probably benign |
Het |
| Itprid1 |
T |
C |
6: 55,851,339 (GRCm39) |
|
probably null |
Het |
| Kcnu1 |
C |
T |
8: 26,411,556 (GRCm39) |
S167L |
probably damaging |
Het |
| Kif16b |
A |
T |
2: 142,544,534 (GRCm39) |
|
probably benign |
Het |
| Myh7 |
A |
T |
14: 55,230,276 (GRCm39) |
S19T |
probably benign |
Het |
| Ncaph2 |
T |
C |
15: 89,248,447 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
T |
C |
7: 6,101,951 (GRCm39) |
L879P |
probably damaging |
Het |
| Nqo2 |
T |
A |
13: 34,156,344 (GRCm39) |
N19K |
probably damaging |
Het |
| Or2r2 |
C |
T |
6: 42,463,540 (GRCm39) |
V196M |
probably damaging |
Het |
| Osbpl1a |
C |
A |
18: 12,952,635 (GRCm39) |
G93* |
probably null |
Het |
| Pdxdc1 |
A |
G |
16: 13,661,659 (GRCm39) |
F459L |
possibly damaging |
Het |
| Phc2 |
A |
T |
4: 128,601,809 (GRCm39) |
H88L |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Ptchd4 |
A |
T |
17: 42,813,340 (GRCm39) |
T414S |
possibly damaging |
Het |
| Rab7b |
A |
G |
1: 131,626,280 (GRCm39) |
R103G |
probably damaging |
Het |
| Retnla |
A |
G |
16: 48,662,943 (GRCm39) |
Y3C |
probably benign |
Het |
| Samd7 |
G |
A |
3: 30,810,322 (GRCm39) |
R113H |
probably damaging |
Het |
| Shisa9 |
G |
A |
16: 11,814,907 (GRCm39) |
|
probably benign |
Het |
| Soat1 |
A |
T |
1: 156,268,926 (GRCm39) |
I208N |
possibly damaging |
Het |
| Stab1 |
C |
A |
14: 30,872,100 (GRCm39) |
|
probably null |
Het |
| Tti2 |
C |
T |
8: 31,641,505 (GRCm39) |
L210F |
possibly damaging |
Het |
| Ube2v2 |
A |
G |
16: 15,374,349 (GRCm39) |
V77A |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,998,620 (GRCm39) |
E1617G |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,508,757 (GRCm39) |
I495K |
possibly damaging |
Het |
| Vwce |
G |
T |
19: 10,623,943 (GRCm39) |
R278L |
possibly damaging |
Het |
| Wdr26 |
C |
T |
1: 181,010,349 (GRCm39) |
A551T |
probably damaging |
Het |
| Wee1 |
A |
G |
7: 109,725,269 (GRCm39) |
I304V |
probably benign |
Het |
| Zfp142 |
G |
T |
1: 74,611,142 (GRCm39) |
S884R |
probably damaging |
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 |
|
|
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 |
|
|
R1004:Xrcc5
|
UTSW |
1 |
72,422,937 (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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation