Incidental Mutation 'R1421:Xrcc5'
ID |
159794 |
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 |
039477-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1421 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
72346586-72434111 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72349636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 22
(N22D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027379
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027379]
|
AlphaFold |
P27641 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027379
AA Change: N22D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000027379 Gene: ENSMUSG00000026187 AA Change: N22D
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 |
0.0861 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
Validation Efficiency |
96% (54/56) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,520,923 (GRCm39) |
T1344A |
probably benign |
Het |
Abcf1 |
G |
A |
17: 36,271,801 (GRCm39) |
A375V |
probably damaging |
Het |
Adam20 |
T |
A |
8: 41,249,784 (GRCm39) |
H631Q |
possibly damaging |
Het |
Adcy10 |
T |
C |
1: 165,391,516 (GRCm39) |
S1258P |
probably damaging |
Het |
Agtpbp1 |
A |
G |
13: 59,643,389 (GRCm39) |
I717T |
possibly damaging |
Het |
Ahnak |
T |
A |
19: 8,992,995 (GRCm39) |
F4760I |
possibly damaging |
Het |
Ano6 |
A |
G |
15: 95,811,266 (GRCm39) |
K122R |
probably benign |
Het |
Arhgap5 |
T |
C |
12: 52,563,631 (GRCm39) |
C201R |
probably damaging |
Het |
Atg16l1 |
T |
C |
1: 87,714,080 (GRCm39) |
|
probably benign |
Het |
Cdhr3 |
A |
T |
12: 33,110,291 (GRCm39) |
I331K |
probably damaging |
Het |
Coq8a |
A |
G |
1: 179,998,006 (GRCm39) |
|
probably benign |
Het |
Crebbp |
A |
G |
16: 3,942,511 (GRCm39) |
V662A |
probably damaging |
Het |
Cspg4 |
T |
A |
9: 56,803,910 (GRCm39) |
M1667K |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,580,032 (GRCm39) |
|
probably benign |
Het |
Dnajc6 |
A |
T |
4: 101,468,513 (GRCm39) |
Y251F |
probably damaging |
Het |
Dpy19l4 |
A |
T |
4: 11,304,011 (GRCm39) |
M133K |
probably benign |
Het |
Emb |
T |
C |
13: 117,408,624 (GRCm39) |
Y322H |
probably benign |
Het |
Gcm1 |
A |
T |
9: 77,966,982 (GRCm39) |
H67L |
probably damaging |
Het |
Gls2 |
A |
T |
10: 128,037,217 (GRCm39) |
K253* |
probably null |
Het |
Gm28042 |
T |
A |
2: 119,866,944 (GRCm39) |
S196T |
probably benign |
Het |
Gm43302 |
T |
C |
5: 105,365,215 (GRCm39) |
T598A |
probably benign |
Het |
Gramd1a |
T |
A |
7: 30,842,291 (GRCm39) |
Q90L |
probably damaging |
Het |
Grhl2 |
A |
G |
15: 37,309,960 (GRCm39) |
Y352C |
probably damaging |
Het |
Ifi203-ps |
T |
C |
1: 173,625,563 (GRCm39) |
|
noncoding transcript |
Het |
Ifitm2 |
T |
C |
7: 140,534,972 (GRCm39) |
I121V |
probably benign |
Het |
Insyn2a |
A |
T |
7: 134,500,960 (GRCm39) |
|
probably benign |
Het |
Kptn |
T |
G |
7: 15,856,949 (GRCm39) |
|
probably benign |
Het |
L2hgdh |
C |
T |
12: 69,748,092 (GRCm39) |
D345N |
probably benign |
Het |
Lgals12 |
T |
C |
19: 7,584,079 (GRCm39) |
H6R |
probably benign |
Het |
Lrrc4b |
A |
G |
7: 44,110,475 (GRCm39) |
I116V |
probably benign |
Het |
Misp |
A |
G |
10: 79,662,681 (GRCm39) |
D366G |
probably damaging |
Het |
Nav1 |
T |
C |
1: 135,512,748 (GRCm39) |
E104G |
probably damaging |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Parp1 |
T |
C |
1: 180,427,653 (GRCm39) |
|
probably benign |
Het |
Pikfyve |
G |
A |
1: 65,310,470 (GRCm39) |
G1919D |
probably damaging |
Het |
Pomt1 |
A |
G |
2: 32,126,765 (GRCm39) |
|
probably benign |
Het |
Prrc2b |
C |
T |
2: 32,090,990 (GRCm39) |
S454F |
possibly damaging |
Het |
Selenbp1 |
T |
C |
3: 94,851,183 (GRCm39) |
S360P |
probably benign |
Het |
Slc6a12 |
T |
A |
6: 121,336,085 (GRCm39) |
I352N |
probably damaging |
Het |
Snx9 |
G |
A |
17: 5,952,759 (GRCm39) |
G197D |
probably benign |
Het |
Ston1 |
T |
C |
17: 88,943,221 (GRCm39) |
V209A |
probably benign |
Het |
Taf7l2 |
A |
G |
10: 115,949,343 (GRCm39) |
V61A |
probably damaging |
Het |
Tex36 |
A |
T |
7: 133,197,078 (GRCm39) |
|
probably null |
Het |
Tnnt3 |
A |
G |
7: 142,065,103 (GRCm39) |
E108G |
probably damaging |
Het |
Vmn2r98 |
T |
A |
17: 19,285,440 (GRCm39) |
F87I |
probably damaging |
Het |
Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
Wdr64 |
T |
C |
1: 175,594,716 (GRCm39) |
I479T |
possibly damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
Zfp735 |
C |
A |
11: 73,601,523 (GRCm39) |
L156I |
probably benign |
Het |
Zfp820 |
A |
T |
17: 22,038,861 (GRCm39) |
Y156N |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTCACCAGTCACATGATTGACCCC -3'
(R):5'- CTGGCGTCTTATGTTAGGAGACAAAGG -3'
Sequencing Primer
(F):5'- TCTCCAGAGTGGAACTTTACG -3'
(R):5'- TCTTATGTTAGGAGACAAAGGCAGTG -3'
|
Posted On |
2014-03-14 |