Incidental Mutation 'IGL02884:Xrcc5'
ID362937
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xrcc5
Ensembl Gene ENSMUSG00000026187
Gene NameX-ray repair complementing defective repair in Chinese hamster cells 5
SynonymsKu86, Ku80
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02884
Quality Score
Status
Chromosome1
Chromosomal Location72307421-72394952 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 72346237 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 496 (H496Y)
Ref Sequence ENSEMBL: ENSMUSP00000027379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027379]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027379
AA Change: H496Y

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027379
Gene: ENSMUSG00000026187
AA Change: H496Y

DomainStartEndE-ValueType
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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A G 11: 58,287,476 I121V probably benign Het
Adprh C T 16: 38,446,034 V249I probably benign Het
Akap11 A T 14: 78,498,962 M1797K probably benign Het
Akap6 T A 12: 52,886,622 I299N probably benign Het
Akr1c12 A T 13: 4,272,212 M277K possibly damaging Het
Ankrd17 A T 5: 90,264,757 M1236K probably damaging Het
Arhgef11 A G 3: 87,728,006 D874G probably damaging Het
Atg4b T C 1: 93,787,715 probably benign Het
Bcl9 G A 3: 97,210,052 P442L probably damaging Het
Ccdc107 A T 4: 43,495,228 K98* probably null Het
Ccdc129 T C 6: 55,874,354 probably null Het
Cenpl A G 1: 161,086,049 Q343R probably benign Het
Cep104 T C 4: 153,989,862 C524R probably damaging Het
Clec3b C T 9: 123,156,762 T75I probably benign Het
Col13a1 A T 10: 61,905,285 probably benign Het
Crot C T 5: 8,978,197 probably null Het
Ddo G A 10: 40,637,364 V101I probably benign Het
Disp2 T C 2: 118,787,551 probably benign Het
Dnmt3b A C 2: 153,674,377 Y474S probably damaging Het
Dpp6 T A 5: 27,634,556 N298K possibly damaging Het
Fbf1 C T 11: 116,146,513 E940K probably damaging Het
Fgd6 A G 10: 94,045,639 probably benign Het
H2-M10.2 T C 17: 36,284,676 R241G probably damaging Het
Haghl A T 17: 25,783,098 F207Y possibly damaging Het
Helt G A 8: 46,292,583 R88C probably damaging Het
Igf2bp2 T C 16: 22,162,885 K27E probably benign Het
Il1b T C 2: 129,365,102 H246R probably benign Het
Kcnu1 C T 8: 25,921,528 S167L probably damaging Het
Kif16b A T 2: 142,702,614 probably benign Het
Myh7 A T 14: 54,992,819 S19T probably benign Het
Ncaph2 T C 15: 89,364,244 probably null Het
Nlrp4c T C 7: 6,098,952 L879P probably damaging Het
Nqo2 T A 13: 33,972,361 N19K probably damaging Het
Olfr456 C T 6: 42,486,606 V196M probably damaging Het
Osbpl1a C A 18: 12,819,578 G93* probably null Het
Pdxdc1 A G 16: 13,843,795 F459L possibly damaging Het
Phc2 A T 4: 128,708,016 H88L probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ptchd4 A T 17: 42,502,449 T414S possibly damaging Het
Rab7b A G 1: 131,698,542 R103G probably damaging Het
Retnla A G 16: 48,842,580 Y3C probably benign Het
Samd7 G A 3: 30,756,173 R113H probably damaging Het
Shisa9 G A 16: 11,997,043 probably benign Het
Soat1 A T 1: 156,441,356 I208N possibly damaging Het
Stab1 C A 14: 31,150,143 probably null Het
Tti2 C T 8: 31,151,477 L210F possibly damaging Het
Ube2v2 A G 16: 15,556,485 V77A probably benign Het
Ubr5 T C 15: 37,998,376 E1617G probably damaging Het
Vmn2r16 T A 5: 109,360,891 I495K possibly damaging Het
Vwce G T 19: 10,646,579 R278L possibly damaging Het
Wdr26 C T 1: 181,182,784 A551T probably damaging Het
Wee1 A G 7: 110,126,062 I304V probably benign Het
Zfp142 G T 1: 74,571,983 S884R probably damaging Het
Other mutations in Xrcc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:Xrcc5 APN 1 72354245 missense probably benign 0.01
IGL01599:Xrcc5 APN 1 72346349 missense possibly damaging 0.72
IGL01714:Xrcc5 APN 1 72329984 missense probably damaging 0.98
IGL02740:Xrcc5 APN 1 72340081 critical splice donor site probably null
durio UTSW 1 72339029 missense probably damaging 1.00
zibethinus UTSW 1 72310458 missense probably damaging 1.00
PIT4362001:Xrcc5 UTSW 1 72393929 missense probably benign
R0309:Xrcc5 UTSW 1 72307576 unclassified probably benign
R0485:Xrcc5 UTSW 1 72338945 splice site probably benign
R1004:Xrcc5 UTSW 1 72383778 splice site probably benign
R1421:Xrcc5 UTSW 1 72310477 missense probably benign 0.00
R1530:Xrcc5 UTSW 1 72329944 missense probably damaging 0.98
R1694:Xrcc5 UTSW 1 72319096 missense possibly damaging 0.88
R1750:Xrcc5 UTSW 1 72325087 nonsense probably null
R2037:Xrcc5 UTSW 1 72346370 missense probably benign 0.01
R2296:Xrcc5 UTSW 1 72346326 missense probably benign 0.00
R4299:Xrcc5 UTSW 1 72394720 makesense probably null
R4388:Xrcc5 UTSW 1 72330030 missense possibly damaging 0.46
R4527:Xrcc5 UTSW 1 72312500 missense probably damaging 1.00
R4857:Xrcc5 UTSW 1 72326265 missense possibly damaging 0.92
R5073:Xrcc5 UTSW 1 72339029 missense probably damaging 1.00
R5233:Xrcc5 UTSW 1 72340050 missense probably damaging 1.00
R5521:Xrcc5 UTSW 1 72346271 missense probably damaging 1.00
R5996:Xrcc5 UTSW 1 72310458 missense probably damaging 1.00
R6583:Xrcc5 UTSW 1 72312593 critical splice donor site probably null
R6638:Xrcc5 UTSW 1 72383362 missense possibly damaging 0.94
R6935:Xrcc5 UTSW 1 72343030 missense possibly damaging 0.82
R7046:Xrcc5 UTSW 1 72394716 missense probably benign 0.00
Posted On2015-12-18