Incidental Mutation 'R8717:Xrcc5'
| ID |
669927 |
| 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 |
068570-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8717 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
72346586-72434111 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72422905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 697
(I697V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027379]
|
| AlphaFold |
P27641 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027379
AA Change: I697V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027379
Gene: ENSMUSG00000026187
AA Change: I697V
| 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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (60/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,543,958 (GRCm39) |
F528L |
probably benign |
Het |
| Aadacl3 |
T |
G |
4: 144,182,778 (GRCm39) |
D230A |
probably damaging |
Het |
| Adgrf3 |
T |
A |
5: 30,403,579 (GRCm39) |
|
probably benign |
Het |
| Agtr1a |
A |
C |
13: 30,565,357 (GRCm39) |
T141P |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,621,300 (GRCm39) |
D195E |
probably benign |
Het |
| AY074887 |
G |
A |
9: 54,857,786 (GRCm39) |
T113I |
probably damaging |
Het |
| Cacna1c |
G |
A |
6: 119,034,314 (GRCm39) |
A71V |
|
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Cntrl |
T |
A |
2: 35,003,351 (GRCm39) |
V78E |
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,627,155 (GRCm39) |
Y225F |
probably benign |
Het |
| Cyp2j13 |
T |
A |
4: 95,933,777 (GRCm39) |
H369L |
probably benign |
Het |
| Dagla |
T |
C |
19: 10,225,587 (GRCm39) |
E859G |
probably benign |
Het |
| Duox1 |
C |
A |
2: 122,168,152 (GRCm39) |
S1092R |
possibly damaging |
Het |
| Elfn2 |
C |
A |
15: 78,556,561 (GRCm39) |
S662I |
probably benign |
Het |
| Epor |
A |
T |
9: 21,870,741 (GRCm39) |
C380S |
probably benign |
Het |
| Fsd2 |
T |
C |
7: 81,190,090 (GRCm39) |
E564G |
probably benign |
Het |
| Hace1 |
C |
T |
10: 45,481,694 (GRCm39) |
T117I |
unknown |
Het |
| Ift172 |
A |
G |
5: 31,412,985 (GRCm39) |
M1488T |
probably benign |
Het |
| Insyn1 |
A |
G |
9: 58,406,623 (GRCm39) |
T178A |
probably damaging |
Het |
| Kdm3b |
A |
G |
18: 34,952,840 (GRCm39) |
E1070G |
probably damaging |
Het |
| Lrp6 |
A |
G |
6: 134,434,711 (GRCm39) |
F1331L |
probably benign |
Het |
| Lrrc74a |
G |
A |
12: 86,783,253 (GRCm39) |
E33K |
probably damaging |
Het |
| Magel2 |
T |
C |
7: 62,027,420 (GRCm39) |
M108T |
unknown |
Het |
| Mief1 |
T |
C |
15: 80,132,584 (GRCm39) |
S127P |
probably benign |
Het |
| Mprip |
T |
C |
11: 59,650,526 (GRCm39) |
V1410A |
probably benign |
Het |
| Muc1 |
G |
A |
3: 89,138,821 (GRCm39) |
V477M |
possibly damaging |
Het |
| Nat8f3 |
A |
T |
6: 85,738,687 (GRCm39) |
M25K |
possibly damaging |
Het |
| Neb |
T |
G |
2: 52,073,781 (GRCm39) |
H5942P |
probably damaging |
Het |
| Nf2 |
A |
T |
11: 4,766,099 (GRCm39) |
Y144N |
probably damaging |
Het |
| Nipbl |
T |
A |
15: 8,368,225 (GRCm39) |
M1166L |
probably benign |
Het |
| Npnt |
A |
T |
3: 132,614,136 (GRCm39) |
L206Q |
probably damaging |
Het |
| Or10ak13 |
T |
C |
4: 118,638,996 (GRCm39) |
Y262C |
probably damaging |
Het |
| Or4g7 |
A |
G |
2: 111,309,992 (GRCm39) |
T288A |
probably damaging |
Het |
| Or6c65 |
T |
A |
10: 129,604,127 (GRCm39) |
I254N |
probably damaging |
Het |
| Parg |
A |
G |
14: 31,932,492 (GRCm39) |
K444R |
probably benign |
Het |
| Pcbp4 |
A |
T |
9: 106,337,202 (GRCm39) |
|
probably null |
Het |
| Pcdhgb4 |
A |
G |
18: 37,853,847 (GRCm39) |
S81G |
probably benign |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plekho2 |
T |
C |
9: 65,464,058 (GRCm39) |
N264D |
probably benign |
Het |
| Pmpca |
T |
A |
2: 26,281,893 (GRCm39) |
M182K |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,252,695 (GRCm39) |
H476R |
probably benign |
Het |
| Prxl2a |
G |
A |
14: 40,720,836 (GRCm39) |
P126S |
possibly damaging |
Het |
| Rab7 |
T |
C |
6: 87,989,369 (GRCm39) |
S34G |
probably damaging |
Het |
| Rbp3 |
G |
A |
14: 33,678,395 (GRCm39) |
R781H |
probably damaging |
Het |
| Rngtt |
T |
A |
4: 33,368,695 (GRCm39) |
S409R |
probably damaging |
Het |
| Ryr1 |
C |
A |
7: 28,751,753 (GRCm39) |
R3680L |
probably benign |
Het |
| Sbno1 |
T |
C |
5: 124,512,618 (GRCm39) |
S1384G |
possibly damaging |
Het |
| Shmt1 |
T |
C |
11: 60,685,763 (GRCm39) |
D271G |
probably benign |
Het |
| Sin3a |
C |
T |
9: 57,034,510 (GRCm39) |
R1228W |
probably damaging |
Het |
| Slc25a39 |
T |
C |
11: 102,294,620 (GRCm39) |
R294G |
probably benign |
Het |
| Smcr8 |
T |
A |
11: 60,670,254 (GRCm39) |
S467R |
probably damaging |
Het |
| Spaca7 |
A |
G |
8: 12,636,480 (GRCm39) |
Y102C |
probably damaging |
Het |
| Tacr1 |
A |
G |
6: 82,380,706 (GRCm39) |
Y39C |
probably damaging |
Het |
| Tenm3 |
G |
A |
8: 48,752,680 (GRCm39) |
S894L |
possibly damaging |
Het |
| Tmem115 |
T |
A |
9: 107,415,132 (GRCm39) |
M307K |
possibly damaging |
Het |
| Tnn |
A |
G |
1: 159,943,846 (GRCm39) |
V989A |
possibly damaging |
Het |
| Trabd2b |
T |
A |
4: 114,460,186 (GRCm39) |
N441K |
probably damaging |
Het |
| Ttll1 |
T |
C |
15: 83,373,709 (GRCm39) |
K368R |
probably benign |
Het |
| Tubgcp2 |
C |
T |
7: 139,576,705 (GRCm39) |
V858I |
probably benign |
Het |
| Ufsp2 |
G |
T |
8: 46,436,614 (GRCm39) |
V122L |
probably benign |
Het |
| Wdr26 |
A |
G |
1: 181,011,913 (GRCm39) |
C470R |
possibly damaging |
Het |
| Xab2 |
T |
C |
8: 3,663,845 (GRCm39) |
H358R |
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 |
|
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 |
|
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 |
|
| Posted On |
2021-04-30 |
Incidental Mutation