Incidental Mutation 'R7889:Xrcc5'
| ID |
609187 |
| 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 |
045941-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7889 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
72346586-72434111 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 72395985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 593
(V593L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027379]
|
| AlphaFold |
P27641 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027379
AA Change: V593L
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027379
Gene: ENSMUSG00000026187
AA Change: V593L
| 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: 99.2%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg2a |
A |
G |
3: 37,632,959 (GRCm39) |
D855G |
probably benign |
Het |
| Angptl3 |
C |
T |
4: 98,919,308 (GRCm39) |
L23F |
probably benign |
Het |
| Art2a |
C |
T |
7: 101,204,418 (GRCm39) |
S40N |
not run |
Het |
| Ash1l |
A |
G |
3: 88,873,345 (GRCm39) |
T43A |
probably benign |
Het |
| Atp1a2 |
G |
A |
1: 172,105,631 (GRCm39) |
|
probably null |
Het |
| Azi2 |
A |
G |
9: 117,890,983 (GRCm39) |
E336G |
probably benign |
Het |
| Cap2 |
A |
G |
13: 46,800,051 (GRCm39) |
H419R |
probably damaging |
Het |
| Ccdc14 |
T |
A |
16: 34,544,206 (GRCm39) |
S903T |
probably damaging |
Het |
| Cep72 |
A |
T |
13: 74,198,241 (GRCm39) |
S380T |
possibly damaging |
Het |
| Clca3a2 |
C |
A |
3: 144,516,574 (GRCm39) |
E341* |
probably null |
Het |
| Clcnkb |
T |
G |
4: 141,137,915 (GRCm39) |
I294L |
probably benign |
Het |
| Csnk2a1-ps3 |
G |
A |
1: 156,352,965 (GRCm39) |
A389T |
probably benign |
Het |
| Cyp2d9 |
T |
A |
15: 82,340,027 (GRCm39) |
M350K |
probably damaging |
Het |
| Dhx40 |
T |
G |
11: 86,689,793 (GRCm39) |
I266L |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,448,560 (GRCm39) |
E4208* |
probably null |
Het |
| Dync2i1 |
T |
A |
12: 116,219,559 (GRCm39) |
K128* |
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,498,353 (GRCm39) |
N242S |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,590,744 (GRCm39) |
F478Y |
probably benign |
Het |
| Fastkd2 |
C |
G |
1: 63,774,619 (GRCm39) |
|
probably null |
Het |
| Fbxo40 |
T |
A |
16: 36,790,012 (GRCm39) |
D366V |
probably damaging |
Het |
| Fhod3 |
A |
T |
18: 24,903,551 (GRCm39) |
K95M |
probably damaging |
Het |
| Foxo3 |
T |
A |
10: 42,151,023 (GRCm39) |
Q136L |
probably benign |
Het |
| Gadl1 |
A |
T |
9: 115,783,883 (GRCm39) |
Q236L |
possibly damaging |
Het |
| Galnt13 |
A |
G |
2: 55,002,873 (GRCm39) |
D560G |
probably benign |
Het |
| Ghsr |
A |
G |
3: 27,426,315 (GRCm39) |
S124G |
probably benign |
Het |
| Gkn2 |
A |
G |
6: 87,355,268 (GRCm39) |
|
probably null |
Het |
| Glyctk |
T |
A |
9: 106,033,638 (GRCm39) |
R68W |
unknown |
Het |
| Gm5157 |
G |
A |
7: 20,918,641 (GRCm39) |
P301S |
unknown |
Het |
| Hdc |
A |
T |
2: 126,458,130 (GRCm39) |
I64N |
probably damaging |
Het |
| Helq |
A |
T |
5: 100,940,427 (GRCm39) |
|
probably null |
Het |
| Ighv1-43 |
T |
C |
12: 114,909,583 (GRCm39) |
Y113C |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,334,591 (GRCm39) |
T273A |
probably benign |
Het |
| Itga4 |
G |
A |
2: 79,146,389 (GRCm39) |
V774I |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,335,751 (GRCm39) |
L2287P |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,598,138 (GRCm39) |
I394N |
probably damaging |
Het |
| Mta1 |
G |
A |
12: 113,095,308 (GRCm39) |
R487H |
probably benign |
Het |
| Neb |
T |
C |
2: 52,037,681 (GRCm39) |
D7049G |
probably benign |
Het |
| Nlrp4f |
G |
A |
13: 65,342,832 (GRCm39) |
S271F |
probably damaging |
Het |
| Noxo1 |
A |
G |
17: 24,918,356 (GRCm39) |
D172G |
probably damaging |
Het |
| Nup155 |
T |
A |
15: 8,150,991 (GRCm39) |
V347E |
probably damaging |
Het |
| Oaf |
G |
T |
9: 43,133,968 (GRCm39) |
A251E |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,715,637 (GRCm39) |
F1039I |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,257,062 (GRCm39) |
|
probably null |
Het |
| Prmt3 |
A |
G |
7: 49,437,049 (GRCm39) |
D208G |
possibly damaging |
Het |
| Ptcd3 |
G |
A |
6: 71,865,592 (GRCm39) |
T441M |
probably damaging |
Het |
| Rabl6 |
A |
G |
2: 25,474,786 (GRCm39) |
|
probably null |
Het |
| Shtn1 |
T |
A |
19: 58,992,328 (GRCm39) |
I417F |
probably damaging |
Het |
| Slc20a2 |
T |
C |
8: 23,030,417 (GRCm39) |
S158P |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,717,649 (GRCm39) |
Y232C |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,534,942 (GRCm39) |
T3733I |
probably benign |
Het |
| Thrap3 |
A |
T |
4: 126,071,855 (GRCm39) |
F512L |
probably benign |
Het |
| Tmem150c |
A |
T |
5: 100,240,963 (GRCm39) |
I30K |
probably damaging |
Het |
| Tnnt1 |
C |
T |
7: 4,511,582 (GRCm39) |
A168T |
probably damaging |
Het |
| Trak2 |
A |
G |
1: 58,957,983 (GRCm39) |
L308P |
probably damaging |
Het |
| Trp53i11 |
T |
C |
2: 93,029,244 (GRCm39) |
L81P |
probably damaging |
Het |
| Usp16 |
T |
C |
16: 87,271,472 (GRCm39) |
Y344H |
probably benign |
Het |
| Vinac1 |
T |
C |
2: 128,878,914 (GRCm39) |
E1004G |
unknown |
Het |
| Zcchc14 |
A |
T |
8: 122,331,634 (GRCm39) |
H576Q |
unknown |
Het |
| Zfp616 |
T |
A |
11: 73,976,271 (GRCm39) |
C847S |
probably damaging |
Het |
| Zfp626 |
A |
T |
7: 27,518,924 (GRCm39) |
Y635F |
probably benign |
Het |
| Zfp799 |
G |
A |
17: 33,038,473 (GRCm39) |
R598* |
probably null |
Het |
| Zfp831 |
A |
G |
2: 174,487,097 (GRCm39) |
K591E |
possibly 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 |
|
|
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 |
|
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'- TGAGTTCAGTCTTGCCCACC -3'
(R):5'- ACTGTTGAGAAACCATTGCAG -3'
Sequencing Primer
(F):5'- GTGGTATGAACAGATCTCCTCACG -3'
(R):5'- TGTTGAGAAACCATTGCAGCAGAAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation