Incidental Mutation 'R8088:Xrcc5'
| ID |
629761 |
| 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 |
067521-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8088 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
72346586-72434111 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 72351595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 55
(A55E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027379]
|
| AlphaFold |
P27641 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027379
AA Change: A55E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027379
Gene: ENSMUSG00000026187
AA Change: A55E
| 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 |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
100% (69/69) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2c1 |
A |
T |
9: 105,329,768 (GRCm39) |
|
probably null |
Het |
| Ccdc134 |
T |
A |
15: 82,015,990 (GRCm39) |
|
probably benign |
Het |
| Ccdc162 |
G |
T |
10: 41,499,410 (GRCm39) |
H1066Q |
possibly damaging |
Het |
| Ccna1 |
A |
G |
3: 54,958,492 (GRCm39) |
S64P |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,215,802 (GRCm39) |
M453V |
probably benign |
Het |
| Defb12 |
T |
C |
8: 19,162,837 (GRCm39) |
|
probably null |
Het |
| Dhx9 |
C |
A |
1: 153,338,443 (GRCm39) |
V738L |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,831,330 (GRCm39) |
N843S |
probably benign |
Het |
| Dspp |
A |
G |
5: 104,325,122 (GRCm39) |
D495G |
unknown |
Het |
| Dus2 |
A |
G |
8: 106,757,073 (GRCm39) |
M88V |
probably benign |
Het |
| Dusp13b |
A |
G |
14: 21,791,305 (GRCm39) |
V49A |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,889,072 (GRCm39) |
I4163L |
probably benign |
Het |
| Ehbp1 |
G |
A |
11: 22,039,572 (GRCm39) |
H843Y |
probably null |
Het |
| Entpd3 |
A |
C |
9: 120,383,239 (GRCm39) |
R91S |
probably benign |
Het |
| Fam83c |
C |
A |
2: 155,673,559 (GRCm39) |
V210F |
probably damaging |
Het |
| Flot1 |
G |
A |
17: 36,140,870 (GRCm39) |
A287T |
probably damaging |
Het |
| Gm19410 |
A |
G |
8: 36,273,995 (GRCm39) |
K1412E |
probably benign |
Het |
| Gsn |
G |
A |
2: 35,182,659 (GRCm39) |
V241M |
possibly damaging |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Heatr5a |
T |
C |
12: 51,994,779 (GRCm39) |
D451G |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,316,915 (GRCm39) |
W3831* |
probably null |
Het |
| Il3 |
A |
G |
11: 54,156,375 (GRCm39) |
V119A |
probably benign |
Het |
| Jam3 |
T |
C |
9: 27,010,156 (GRCm39) |
K276R |
probably benign |
Het |
| Kcnt1 |
G |
A |
2: 25,784,326 (GRCm39) |
G277D |
possibly damaging |
Het |
| Kif28 |
T |
A |
1: 179,527,919 (GRCm39) |
D744V |
probably damaging |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Loxhd1 |
T |
C |
18: 77,429,709 (GRCm39) |
I535T |
possibly damaging |
Het |
| Lzts1 |
A |
C |
8: 69,588,474 (GRCm39) |
L494R |
probably benign |
Het |
| Mettl4 |
A |
G |
17: 95,042,795 (GRCm39) |
V347A |
probably damaging |
Het |
| Mff |
A |
G |
1: 82,729,370 (GRCm39) |
E270G |
probably damaging |
Het |
| Mroh2b |
A |
T |
15: 4,929,985 (GRCm39) |
I24F |
possibly damaging |
Het |
| Muc16 |
A |
T |
9: 18,430,596 (GRCm39) |
Y8102* |
probably null |
Het |
| Myh14 |
A |
T |
7: 44,314,920 (GRCm39) |
M1K |
probably null |
Het |
| Myo18b |
T |
A |
5: 113,027,376 (GRCm39) |
|
probably benign |
Het |
| Neurl1a |
C |
A |
19: 47,245,873 (GRCm39) |
P502T |
probably damaging |
Het |
| Nrp1 |
G |
A |
8: 129,194,997 (GRCm39) |
W484* |
probably null |
Het |
| Or2y3 |
T |
A |
17: 38,393,452 (GRCm39) |
H139L |
possibly damaging |
Het |
| Or4f47 |
T |
A |
2: 111,972,602 (GRCm39) |
I104N |
probably benign |
Het |
| Pcdhac1 |
T |
C |
18: 37,224,807 (GRCm39) |
V540A |
possibly damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,870,007 (GRCm39) |
|
probably benign |
Het |
| Pm20d1 |
A |
C |
1: 131,729,501 (GRCm39) |
N176T |
probably benign |
Het |
| Pnldc1 |
T |
C |
17: 13,116,189 (GRCm39) |
D271G |
probably damaging |
Het |
| Pold3 |
A |
G |
7: 99,761,508 (GRCm39) |
V63A |
probably damaging |
Het |
| Rbm18 |
A |
C |
2: 36,017,196 (GRCm39) |
S61A |
probably benign |
Het |
| Rdh14 |
T |
C |
12: 10,444,551 (GRCm39) |
L134P |
probably damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rtel1 |
A |
G |
2: 180,964,138 (GRCm39) |
T46A |
probably damaging |
Het |
| Rtn3 |
T |
C |
19: 7,412,363 (GRCm39) |
I823V |
probably damaging |
Het |
| S1pr1 |
A |
G |
3: 115,505,683 (GRCm39) |
S304P |
probably damaging |
Het |
| Scfd2 |
A |
G |
5: 74,692,024 (GRCm39) |
V86A |
probably benign |
Het |
| Scgb1a1 |
C |
T |
19: 9,062,599 (GRCm39) |
V66M |
probably damaging |
Het |
| Sec31a |
A |
T |
5: 100,526,721 (GRCm39) |
M46K |
|
Het |
| Sgsm1 |
A |
G |
5: 113,403,134 (GRCm39) |
M971T |
probably damaging |
Het |
| Slc5a11 |
T |
C |
7: 122,864,951 (GRCm39) |
I419T |
probably benign |
Het |
| Slco6d1 |
A |
T |
1: 98,394,431 (GRCm39) |
T372S |
possibly damaging |
Het |
| Slx9 |
T |
C |
10: 77,350,229 (GRCm39) |
N53S |
probably benign |
Het |
| Spata31 |
T |
A |
13: 65,068,679 (GRCm39) |
Y276N |
probably benign |
Het |
| Sprr2k |
C |
T |
3: 92,340,796 (GRCm39) |
R49W |
unknown |
Het |
| Sspo |
G |
A |
6: 48,434,547 (GRCm39) |
C1013Y |
probably damaging |
Het |
| Ssr2 |
A |
G |
3: 88,487,190 (GRCm39) |
R2G |
possibly damaging |
Het |
| St18 |
C |
A |
1: 6,898,229 (GRCm39) |
T677K |
probably benign |
Het |
| Thap11 |
A |
T |
8: 106,582,527 (GRCm39) |
I179F |
probably damaging |
Het |
| Trf |
C |
A |
9: 103,089,130 (GRCm39) |
G586C |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,192,770 (GRCm39) |
N299S |
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 |
|
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'- GGGCATAACTATCATTGTTAGTAGTCC -3'
(R):5'- GGATTATGACTCCCCAGATAAATGG -3'
Sequencing Primer
(F):5'- TCCTGCTCCCTGAAAGTT -3'
(R):5'- CTTGTCGTTTTAGGCACAGAAAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation