Incidental Mutation 'R8179:Xrcc5'
| ID |
634519 |
| 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 |
067604-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8179 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
72346586-72434111 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72396016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 603
(V603A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027379]
|
| AlphaFold |
P27641 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027379
AA Change: V603A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027379
Gene: ENSMUSG00000026187
AA Change: V603A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,136,100 (GRCm39) |
Y170H |
probably damaging |
Het |
| Ace3 |
G |
T |
11: 105,895,383 (GRCm39) |
V602L |
probably benign |
Het |
| Ahr |
T |
C |
12: 35,560,050 (GRCm39) |
Q201R |
probably benign |
Het |
| Aldh18a1 |
A |
C |
19: 40,545,952 (GRCm39) |
C612G |
probably damaging |
Het |
| Ankrd40 |
G |
A |
11: 94,225,541 (GRCm39) |
A191T |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,137,117 (GRCm39) |
D1169G |
probably damaging |
Het |
| Arfgap2 |
T |
C |
2: 91,105,668 (GRCm39) |
F505L |
probably damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,381,776 (GRCm39) |
F423L |
probably damaging |
Het |
| Atf6b |
T |
C |
17: 34,872,968 (GRCm39) |
M628T |
probably damaging |
Het |
| Casp8ap2 |
T |
A |
4: 32,643,939 (GRCm39) |
L1004* |
probably null |
Het |
| Cc2d2a |
T |
A |
5: 43,857,295 (GRCm39) |
L494Q |
probably damaging |
Het |
| Cd180 |
T |
C |
13: 102,842,141 (GRCm39) |
S396P |
probably benign |
Het |
| Cdk19 |
T |
C |
10: 40,270,368 (GRCm39) |
I59T |
possibly damaging |
Het |
| Cfap54 |
G |
T |
10: 92,833,178 (GRCm39) |
F1149L |
possibly damaging |
Het |
| Chp1 |
C |
T |
2: 119,378,253 (GRCm39) |
|
probably benign |
Het |
| Clmp |
T |
C |
9: 40,692,475 (GRCm39) |
F248S |
probably benign |
Het |
| Ctc1 |
T |
A |
11: 68,915,050 (GRCm39) |
I237K |
probably benign |
Het |
| Dcaf1 |
G |
T |
9: 106,735,115 (GRCm39) |
V688L |
probably damaging |
Het |
| Ddx54 |
T |
A |
5: 120,765,167 (GRCm39) |
M812K |
probably benign |
Het |
| Disc1 |
C |
T |
8: 125,814,316 (GRCm39) |
P60L |
probably benign |
Het |
| Disp2 |
C |
G |
2: 118,623,030 (GRCm39) |
P1254R |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,842,284 (GRCm39) |
I4432F |
possibly damaging |
Het |
| Dnajc15 |
A |
T |
14: 78,090,393 (GRCm39) |
I58N |
|
Het |
| Elovl5 |
A |
G |
9: 77,884,181 (GRCm39) |
N159S |
probably damaging |
Het |
| Fgfr3 |
T |
C |
5: 33,885,099 (GRCm39) |
V71A |
probably benign |
Het |
| Frs2 |
A |
T |
10: 116,912,791 (GRCm39) |
H167Q |
probably damaging |
Het |
| Gm4553 |
A |
T |
7: 141,718,594 (GRCm39) |
V278E |
unknown |
Het |
| Grin2d |
A |
T |
7: 45,507,452 (GRCm39) |
Y416* |
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,598,265 (GRCm39) |
V1679E |
probably benign |
Het |
| Igkv18-36 |
T |
C |
6: 69,969,479 (GRCm39) |
Y105C |
probably damaging |
Het |
| Lingo1 |
T |
C |
9: 56,527,134 (GRCm39) |
D491G |
probably damaging |
Het |
| Map3k1 |
A |
C |
13: 111,885,581 (GRCm39) |
I1445M |
probably damaging |
Het |
| Med30 |
A |
T |
15: 52,575,964 (GRCm39) |
Q20L |
probably damaging |
Het |
| Mgat5b |
A |
G |
11: 116,822,554 (GRCm39) |
E96G |
probably benign |
Het |
| Mmp16 |
T |
A |
4: 17,853,854 (GRCm39) |
|
probably null |
Het |
| Mogat1 |
A |
G |
1: 78,504,255 (GRCm39) |
D176G |
possibly damaging |
Het |
| Mre11a |
T |
A |
9: 14,708,362 (GRCm39) |
D142E |
probably null |
Het |
| Mybpc2 |
C |
A |
7: 44,159,254 (GRCm39) |
V599L |
probably benign |
Het |
| Myot |
A |
T |
18: 44,487,197 (GRCm39) |
R345* |
probably null |
Het |
| Or10d5 |
G |
A |
9: 39,861,708 (GRCm39) |
R120C |
probably benign |
Het |
| Or10z1 |
T |
G |
1: 174,078,130 (GRCm39) |
D121A |
possibly damaging |
Het |
| Or8g53 |
C |
T |
9: 39,683,200 (GRCm39) |
V299I |
probably benign |
Het |
| Pglyrp2 |
T |
C |
17: 32,635,003 (GRCm39) |
Y453C |
possibly damaging |
Het |
| Phrf1 |
A |
G |
7: 140,836,493 (GRCm39) |
Y255C |
unknown |
Het |
| Plppr4 |
A |
G |
3: 117,125,327 (GRCm39) |
S171P |
probably damaging |
Het |
| Ppip5k1 |
A |
T |
2: 121,172,095 (GRCm39) |
|
probably null |
Het |
| Pramel57 |
T |
C |
5: 95,667,753 (GRCm39) |
V111A |
probably benign |
Het |
| Rapgef3 |
A |
T |
15: 97,658,621 (GRCm39) |
H170Q |
probably benign |
Het |
| Rnf10 |
ACCTCATCTCGTC |
AC |
5: 115,398,176 (GRCm39) |
|
probably null |
Het |
| Rpe65 |
A |
G |
3: 159,330,336 (GRCm39) |
Y501C |
probably benign |
Het |
| Ruvbl2 |
A |
G |
7: 45,072,196 (GRCm39) |
I346T |
probably damaging |
Het |
| Sema3g |
A |
G |
14: 30,942,542 (GRCm39) |
I48V |
probably benign |
Het |
| Slc4a10 |
A |
C |
2: 62,073,792 (GRCm39) |
S285R |
possibly damaging |
Het |
| Slc6a11 |
G |
A |
6: 114,222,567 (GRCm39) |
G521S |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,554,903 (GRCm39) |
N912D |
probably benign |
Het |
| Traf3ip1 |
T |
C |
1: 91,428,523 (GRCm39) |
V128A |
unknown |
Het |
| Trpc7 |
T |
A |
13: 57,035,693 (GRCm39) |
N80I |
probably damaging |
Het |
| Ttc21b |
G |
A |
2: 66,031,824 (GRCm39) |
H1031Y |
probably benign |
Het |
| Tubg2 |
A |
T |
11: 101,051,082 (GRCm39) |
I235F |
probably benign |
Het |
| Ube2q2l |
A |
G |
6: 136,378,240 (GRCm39) |
S197P |
probably damaging |
Het |
| Vmn2r118 |
A |
T |
17: 55,915,484 (GRCm39) |
Y489N |
probably benign |
Het |
| Vmn2r54 |
G |
T |
7: 12,366,018 (GRCm39) |
C305* |
probably null |
Het |
| Vmn2r86 |
G |
A |
10: 130,288,953 (GRCm39) |
H183Y |
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,578,498 (GRCm39) |
Y136* |
probably null |
Het |
| Zfp112 |
C |
T |
7: 23,825,063 (GRCm39) |
P348S |
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 |
|
|
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 |
|
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'- GAGCACACTTACTATTTTAACCCATC -3'
(R):5'- TCTGTAAGCCCTGGCAAGC -3'
Sequencing Primer
(F):5'- GTGGTATGAACAGATCTCCTCACG -3'
(R):5'- GCAGCACAGATCAGCCCATG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation