Incidental Mutation 'IGL01599:Xrcc5'
ID 92039
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xrcc5
Ensembl Gene ENSMUSG00000026187
Gene Name X-ray repair complementing defective repair in Chinese hamster cells 5
Synonyms Ku86, Ku80
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01599
Quality Score
Status
Chromosome 1
Chromosomal Location 72346586-72434111 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72385508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 533 (V533A)
Ref Sequence ENSEMBL: ENSMUSP00000027379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027379]
AlphaFold P27641
Predicted Effect possibly damaging
Transcript: ENSMUST00000027379
AA Change: V533A

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027379
Gene: ENSMUSG00000026187
AA Change: V533A

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
Ackr3 T C 1: 90,141,856 (GRCm39) V105A probably benign Het
Acr T C 15: 89,452,617 (GRCm39) V18A probably benign Het
Adgra2 G A 8: 27,608,761 (GRCm39) A540T possibly damaging Het
Aldh16a1 A G 7: 44,791,517 (GRCm39) F753L probably damaging Het
Ankfy1 T A 11: 72,629,191 (GRCm39) Y338N probably benign Het
Aox3 C T 1: 58,208,953 (GRCm39) R829C probably damaging Het
Arhgef11 T C 3: 87,644,353 (GRCm39) S1535P probably benign Het
C4b A G 17: 34,961,993 (GRCm39) probably benign Het
Ccdc157 A G 11: 4,098,781 (GRCm39) C242R probably damaging Het
Cep135 T A 5: 76,741,194 (GRCm39) M90K possibly damaging Het
Cfap36 A T 11: 29,194,057 (GRCm39) probably null Het
Chl1 A G 6: 103,685,445 (GRCm39) T829A probably benign Het
Copb2 T C 9: 98,463,203 (GRCm39) S473P probably damaging Het
Cpb1 C T 3: 20,306,118 (GRCm39) probably null Het
Cpsf1 A G 15: 76,480,741 (GRCm39) L1295P probably damaging Het
Dmp1 C T 5: 104,360,328 (GRCm39) Q335* probably null Het
Dyrk1a T A 16: 94,492,743 (GRCm39) S621T possibly damaging Het
Exoc5 T A 14: 49,272,421 (GRCm39) Q331L probably benign Het
Fmnl1 G A 11: 103,077,482 (GRCm39) V287M probably damaging Het
Fras1 T C 5: 96,857,750 (GRCm39) S2015P possibly damaging Het
Gm7052 T C 17: 22,258,985 (GRCm39) probably benign Het
Gprc5c A G 11: 114,755,078 (GRCm39) I252V probably benign Het
Ints3 C T 3: 90,301,629 (GRCm39) probably null Het
L1td1 A G 4: 98,625,581 (GRCm39) D592G probably damaging Het
Lamb3 A G 1: 193,025,720 (GRCm39) M1137V probably benign Het
Leng8 C A 7: 4,148,481 (GRCm39) A751E probably benign Het
Lfng T C 5: 140,598,290 (GRCm39) V204A probably damaging Het
Lsm14b A G 2: 179,674,396 (GRCm39) D233G probably damaging Het
Map4 C T 9: 109,863,836 (GRCm39) P354S probably benign Het
Mapt G A 11: 104,185,741 (GRCm39) V53M probably damaging Het
Mier1 T G 4: 103,012,738 (GRCm39) S377A possibly damaging Het
Neurog1 T C 13: 56,399,660 (GRCm39) D29G probably damaging Het
Npr3 G A 15: 11,895,875 (GRCm39) A257V probably damaging Het
Nup188 T C 2: 30,217,537 (GRCm39) V824A possibly damaging Het
Olfm4 T C 14: 80,258,750 (GRCm39) S333P probably damaging Het
Or7g30 T G 9: 19,353,111 (GRCm39) F301V probably benign Het
Or9a4 A C 6: 40,549,186 (GRCm39) I289L probably damaging Het
Pbxip1 C A 3: 89,350,897 (GRCm39) probably benign Het
Pde9a G T 17: 31,633,124 (GRCm39) C38F probably damaging Het
Plb1 A T 5: 32,499,888 (GRCm39) probably benign Het
Plcz1 T C 6: 139,947,982 (GRCm39) probably benign Het
Plxnb1 T C 9: 108,939,672 (GRCm39) V1447A probably damaging Het
Pnldc1 A T 17: 13,125,415 (GRCm39) M73K probably benign Het
Psg20 C T 7: 18,414,963 (GRCm39) V311M possibly damaging Het
Psmd2 G T 16: 20,478,155 (GRCm39) probably null Het
Rabgap1 T C 2: 37,446,281 (GRCm39) V859A probably damaging Het
Rad51b T A 12: 79,374,002 (GRCm39) S194T probably benign Het
Rb1cc1 C T 1: 6,318,995 (GRCm39) Q788* probably null Het
Ror2 C T 13: 53,265,653 (GRCm39) G468R probably damaging Het
Slamf7 A G 1: 171,468,754 (GRCm39) I46T possibly damaging Het
Stab2 A G 10: 86,758,759 (GRCm39) S1060P probably damaging Het
Syndig1 T A 2: 149,845,203 (GRCm39) V242E probably damaging Het
Tgfbr3 G A 5: 107,266,317 (GRCm39) T801M probably damaging Het
Tmem132c T C 5: 127,436,616 (GRCm39) probably benign Het
Trav21-dv12 T C 14: 54,114,188 (GRCm39) Y103H probably damaging Het
Tut4 T C 4: 108,370,596 (GRCm39) S871P possibly damaging Het
Ubr3 T C 2: 69,768,522 (GRCm39) V443A probably damaging Het
Uhrf2 G T 19: 30,069,520 (GRCm39) C749F probably damaging Het
Ulk2 G T 11: 61,682,262 (GRCm39) S751* probably null Het
Wrn G A 8: 33,731,039 (GRCm39) P1098S possibly damaging Het
Zc3h13 T C 14: 75,547,163 (GRCm39) S223P probably damaging Het
Other mutations in Xrcc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:Xrcc5 APN 1 72,393,404 (GRCm39) missense probably benign 0.01
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
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
Posted On 2013-12-09