Incidental Mutation 'IGL02740:Xrcc5'
ID305886
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 #IGL02740
Quality Score
Status
Chromosome1
Chromosomal Location72307421-72394952 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 72340081 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027379]
Predicted Effect probably null
Transcript: ENSMUST00000027379
SMART Domains Protein: ENSMUSP00000027379
Gene: ENSMUSG00000026187

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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 C T 1: 59,169,919 E1494K probably benign Het
Antxr2 A G 5: 98,030,392 probably benign Het
Arhgap23 A C 11: 97,475,017 K998Q probably damaging Het
Bap1 A G 14: 31,256,772 N47D possibly damaging Het
Carmil1 A G 13: 24,094,518 I156T probably damaging Het
Ccdc141 T C 2: 77,054,609 T563A probably benign Het
Cct7 T C 6: 85,468,270 F501S probably benign Het
Cd59b A G 2: 104,078,897 I8V probably benign Het
Cep135 T C 5: 76,638,268 probably null Het
Cep170 T G 1: 176,793,600 T4P probably damaging Het
Chaf1a G T 17: 56,067,500 G896W probably damaging Het
Cpt1b A T 15: 89,424,332 L131Q probably damaging Het
Dcaf13 C T 15: 39,145,100 R366* probably null Het
Ddr2 A T 1: 169,984,945 N659K probably damaging Het
Dmrt2 C A 19: 25,678,473 L479I possibly damaging Het
Dnah10 A G 5: 124,826,863 probably benign Het
Dsg3 C T 18: 20,527,708 T368M possibly damaging Het
Dspp C A 5: 104,177,238 S489* probably null Het
Eed A C 7: 89,972,256 V112G possibly damaging Het
Ehmt1 T A 2: 24,815,839 probably benign Het
Elavl3 T C 9: 22,036,379 D89G probably benign Het
Ercc5 T C 1: 44,167,492 S522P probably benign Het
Esrrg T C 1: 188,198,741 L320P probably benign Het
Gadl1 T A 9: 116,006,561 Y352* probably null Het
Gemin5 G A 11: 58,151,564 A477V probably damaging Het
Gm3086 A T 12: 69,969,321 probably benign Het
Gm8082 C T 14: 42,989,113 probably benign Het
Gpr180 T C 14: 118,139,749 L54P probably damaging Het
Gpsm1 G A 2: 26,340,573 V512M probably benign Het
Ighv5-4 A G 12: 113,597,480 S107P probably damaging Het
Irak4 T C 15: 94,567,044 *460Q probably null Het
Nfkbiz G T 16: 55,817,954 T381N probably benign Het
Olfr1167 T A 2: 88,149,257 H254L probably damaging Het
Olfr384 A T 11: 73,602,831 N84Y probably benign Het
Olfr910 T C 9: 38,538,930 F12L probably damaging Het
Olfr937 T C 9: 39,060,289 I126V probably benign Het
Pou2f1 G A 1: 165,883,116 Q523* probably null Het
Ptcra A G 17: 46,758,547 S133P probably damaging Het
Ptgfrn A T 3: 101,072,937 D362E possibly damaging Het
Rbm33 A T 5: 28,331,123 D19V probably damaging Het
Rnf4 T A 5: 34,349,554 V74D possibly damaging Het
Rprd1b A G 2: 158,047,979 D7G probably damaging Het
Rrp1b A G 17: 32,059,331 T659A probably damaging Het
Scaf11 T C 15: 96,419,002 N894D probably benign Het
Scn1a G A 2: 66,324,762 R618C probably damaging Het
Scn1a A T 2: 66,318,077 D1041E probably benign Het
Slc43a1 G T 2: 84,859,750 A424S probably damaging Het
Sprtn T C 8: 124,898,303 L49P probably damaging Het
Sv2a G T 3: 96,185,407 R141L possibly damaging Het
Thsd7b C T 1: 129,613,127 S246F probably damaging Het
Tmem117 A T 15: 94,714,982 D133V probably benign Het
Tnn A T 1: 160,140,777 probably benign Het
Triobp G A 15: 78,966,689 V348I probably benign Het
Trps1 A T 15: 50,846,539 D134E probably damaging Het
Ttn T C 2: 76,767,818 I19584V probably benign Het
Uqcrfs1 T C 13: 30,541,023 H178R probably damaging Het
Ush2a A T 1: 188,648,388 Q2298L possibly damaging Het
Vmn2r67 A G 7: 85,136,610 I729T probably damaging Het
Vmn2r79 A T 7: 87,004,158 M544L probably benign Het
Vps41 T A 13: 18,838,680 L404Q probably damaging Het
Zfp735 A G 11: 73,710,586 K119E possibly 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
IGL02884:Xrcc5 APN 1 72346237 missense possibly damaging 0.95
durio UTSW 1 72339029 missense probably damaging 1.00
Highlander UTSW 1 72319127 missense possibly damaging 0.55
R6935_Xrcc5_229 UTSW 1 72343030 missense possibly damaging 0.82
xenophobe UTSW 1 72312436 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
R7446:Xrcc5 UTSW 1 72393973 splice site probably null
R7473:Xrcc5 UTSW 1 72312589 missense probably damaging 1.00
R7875:Xrcc5 UTSW 1 72329931 missense probably damaging 1.00
R7889:Xrcc5 UTSW 1 72356826 missense probably benign 0.45
R8088:Xrcc5 UTSW 1 72312436 missense probably damaging 1.00
R8179:Xrcc5 UTSW 1 72356857 missense probably damaging 0.99
R8297:Xrcc5 UTSW 1 72325085 missense possibly damaging 0.47
R8309:Xrcc5 UTSW 1 72319127 missense possibly damaging 0.55
R8717:Xrcc5 UTSW 1 72383746 missense probably benign
R8775:Xrcc5 UTSW 1 72393930 missense probably benign 0.01
R8775-TAIL:Xrcc5 UTSW 1 72393930 missense probably benign 0.01
R8798:Xrcc5 UTSW 1 72314178 missense probably damaging 1.00
R8889:Xrcc5 UTSW 1 72343031 missense possibly damaging 0.90
R8892:Xrcc5 UTSW 1 72343031 missense possibly damaging 0.90
Posted On2015-04-16