Incidental Mutation 'R5576:Xrcc6'
ID 437233
Institutional Source Beutler Lab
Gene Symbol Xrcc6
Ensembl Gene ENSMUSG00000022471
Gene Name X-ray repair complementing defective repair in Chinese hamster cells 6
Synonyms Ku70, Ku p70, G22p1
MMRRC Submission 043131-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5576 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 81872036-81924286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81906693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 79 (D79E)
Ref Sequence ENSEMBL: ENSMUSP00000131212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069530] [ENSMUST00000100399] [ENSMUST00000164779] [ENSMUST00000165777] [ENSMUST00000170630] [ENSMUST00000168581]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000069530
AA Change: D79E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068559
Gene: ENSMUSG00000022471
AA Change: D79E

DomainStartEndE-ValueType
low complexity region 11 20 N/A INTRINSIC
VWA 32 246 1.79e0 SMART
Ku78 306 452 2.91e-56 SMART
Pfam:Ku_C 467 557 5e-34 PFAM
SAP 571 605 2.38e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100399
AA Change: D79E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097968
Gene: ENSMUSG00000022471
AA Change: D79E

DomainStartEndE-ValueType
low complexity region 11 20 N/A INTRINSIC
VWA 32 246 1.79e0 SMART
Ku78 306 452 2.91e-56 SMART
Pfam:Ku_C 470 555 3.1e-31 PFAM
SAP 571 605 2.38e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129039
Predicted Effect probably benign
Transcript: ENSMUST00000164779
SMART Domains Protein: ENSMUSP00000127927
Gene: ENSMUSG00000022471

DomainStartEndE-ValueType
Pfam:Ku_N 1 96 4.6e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164975
Predicted Effect probably damaging
Transcript: ENSMUST00000165777
AA Change: D79E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131212
Gene: ENSMUSG00000022471
AA Change: D79E

DomainStartEndE-ValueType
low complexity region 11 20 N/A INTRINSIC
Pfam:Ku_N 35 106 7.6e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170630
SMART Domains Protein: ENSMUSP00000126245
Gene: ENSMUSG00000022471

DomainStartEndE-ValueType
low complexity region 11 20 N/A INTRINSIC
Pfam:Ku_N 35 205 1.2e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170907
Predicted Effect probably benign
Transcript: ENSMUST00000168581
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neuron apoptosis, decreased body size, abnormal B and T cell morphology, increased incidence of tumorigenesis, and increased cellular sensitivity to irradiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik G A 5: 109,885,570 (GRCm39) T96I probably benign Het
Add2 G T 6: 86,084,457 (GRCm39) probably null Het
Agbl1 C T 7: 75,984,985 (GRCm39) T134M probably benign Het
Agfg1 T A 1: 82,848,445 (GRCm39) S32T probably benign Het
Ankrd17 A C 5: 90,391,083 (GRCm39) S2087A probably benign Het
Apob A T 12: 8,048,662 (GRCm39) E1012V probably damaging Het
Baiap2 T A 11: 119,887,737 (GRCm39) V297E probably benign Het
BC034090 T G 1: 155,117,214 (GRCm39) K301N probably benign Het
Bhlha9 T C 11: 76,563,595 (GRCm39) I74T probably damaging Het
Btnl9 T C 11: 49,069,712 (GRCm39) H189R probably benign Het
Ccdc122 G A 14: 77,329,317 (GRCm39) M123I probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dnah9 T C 11: 65,724,922 (GRCm39) probably null Het
Dnaja2 A T 8: 86,266,033 (GRCm39) L351I possibly damaging Het
Efcab6 C A 15: 83,834,201 (GRCm39) S469I probably benign Het
Esp15 C A 17: 39,953,564 (GRCm39) T17K probably damaging Het
Fads1 A G 19: 10,163,238 (GRCm39) T172A probably benign Het
Fbp2 A T 13: 62,985,005 (GRCm39) D305E probably benign Het
Golga4 A G 9: 118,382,602 (GRCm39) T541A probably benign Het
Herc3 T C 6: 58,865,710 (GRCm39) Y768H probably benign Het
Kmt2a A G 9: 44,753,931 (GRCm39) V514A possibly damaging Het
Melk A G 4: 44,312,255 (GRCm39) E141G probably null Het
Nln A G 13: 104,195,338 (GRCm39) Y245H probably damaging Het
Nrap C T 19: 56,310,414 (GRCm39) R1563H probably damaging Het
Or7g34 T A 9: 19,478,369 (GRCm39) M101L probably benign Het
Or8b44 A C 9: 38,410,204 (GRCm39) K80Q probably damaging Het
Pde4b T A 4: 102,287,359 (GRCm39) I34N probably damaging Het
Pex11g A G 8: 3,515,875 (GRCm39) S53P probably damaging Het
Pole A T 5: 110,459,931 (GRCm39) K1112* probably null Het
Ppfia4 T G 1: 134,250,788 (GRCm39) D184A possibly damaging Het
Rpp30 T A 19: 36,079,251 (GRCm39) D216E probably benign Het
Sbno2 C T 10: 79,903,171 (GRCm39) A398T probably damaging Het
Sbp T A 17: 24,164,552 (GRCm39) S94T probably benign Het
Skp1 T G 11: 52,133,415 (GRCm39) D33E possibly damaging Het
Slc17a8 A G 10: 89,433,364 (GRCm39) W220R probably damaging Het
Slfn9 A T 11: 82,872,258 (GRCm39) M826K probably benign Het
Snx2 A G 18: 53,343,822 (GRCm39) K322E probably benign Het
Spata32 T A 11: 103,100,653 (GRCm39) N38I possibly damaging Het
Sycp1 T C 3: 102,726,218 (GRCm39) R969G probably damaging Het
Trgc2 T C 13: 19,489,301 (GRCm39) I144V probably benign Het
Trpc1 A G 9: 95,603,377 (GRCm39) L385S probably damaging Het
Vmn2r105 C T 17: 20,444,836 (GRCm39) probably null Het
Zan A T 5: 137,426,744 (GRCm39) C2467* probably null Het
Zfp26 A G 9: 20,348,803 (GRCm39) V587A possibly damaging Het
Zfp553 C T 7: 126,835,875 (GRCm39) R477C possibly damaging Het
Other mutations in Xrcc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00701:Xrcc6 APN 15 81,901,401 (GRCm39) critical splice donor site probably null
IGL01394:Xrcc6 APN 15 81,909,862 (GRCm39) missense possibly damaging 0.69
IGL01648:Xrcc6 APN 15 81,909,835 (GRCm39) missense probably damaging 0.96
rarity UTSW 15 81,915,352 (GRCm39) missense probably damaging 1.00
R0312:Xrcc6 UTSW 15 81,911,423 (GRCm39) splice site probably null
R0522:Xrcc6 UTSW 15 81,906,793 (GRCm39) splice site probably benign
R1172:Xrcc6 UTSW 15 81,915,364 (GRCm39) missense probably damaging 1.00
R1173:Xrcc6 UTSW 15 81,915,364 (GRCm39) missense probably damaging 1.00
R1218:Xrcc6 UTSW 15 81,907,142 (GRCm39) missense probably benign 0.00
R1269:Xrcc6 UTSW 15 81,907,048 (GRCm39) missense possibly damaging 0.49
R1677:Xrcc6 UTSW 15 81,913,900 (GRCm39) missense probably benign
R2049:Xrcc6 UTSW 15 81,907,178 (GRCm39) missense probably damaging 1.00
R2140:Xrcc6 UTSW 15 81,907,178 (GRCm39) missense probably damaging 1.00
R2142:Xrcc6 UTSW 15 81,907,178 (GRCm39) missense probably damaging 1.00
R3737:Xrcc6 UTSW 15 81,913,832 (GRCm39) missense probably damaging 1.00
R3870:Xrcc6 UTSW 15 81,909,885 (GRCm39) missense probably benign 0.16
R3906:Xrcc6 UTSW 15 81,913,772 (GRCm39) missense probably benign 0.01
R4197:Xrcc6 UTSW 15 81,913,425 (GRCm39) missense probably benign 0.06
R4589:Xrcc6 UTSW 15 81,906,661 (GRCm39) missense probably damaging 1.00
R4941:Xrcc6 UTSW 15 81,924,013 (GRCm39) missense probably damaging 1.00
R5318:Xrcc6 UTSW 15 81,921,708 (GRCm39) missense probably damaging 1.00
R5356:Xrcc6 UTSW 15 81,913,419 (GRCm39) missense probably benign 0.00
R6157:Xrcc6 UTSW 15 81,913,305 (GRCm39) splice site probably null
R6596:Xrcc6 UTSW 15 81,907,155 (GRCm39) start codon destroyed probably null 0.58
R6904:Xrcc6 UTSW 15 81,913,323 (GRCm39) missense probably benign 0.19
R6970:Xrcc6 UTSW 15 81,915,375 (GRCm39) missense probably benign 0.03
R7098:Xrcc6 UTSW 15 81,919,955 (GRCm39) nonsense probably null
R7213:Xrcc6 UTSW 15 81,901,027 (GRCm39) intron probably benign
R7642:Xrcc6 UTSW 15 81,900,678 (GRCm39) critical splice donor site probably null
R7845:Xrcc6 UTSW 15 81,900,678 (GRCm39) critical splice donor site probably null
R8105:Xrcc6 UTSW 15 81,915,352 (GRCm39) missense probably damaging 1.00
R8297:Xrcc6 UTSW 15 81,913,463 (GRCm39) missense probably damaging 1.00
R8788:Xrcc6 UTSW 15 81,911,583 (GRCm39) missense probably damaging 1.00
R8947:Xrcc6 UTSW 15 81,913,866 (GRCm39) missense probably damaging 1.00
R9472:Xrcc6 UTSW 15 81,913,328 (GRCm39) nonsense probably null
X0063:Xrcc6 UTSW 15 81,906,694 (GRCm39) missense possibly damaging 0.92
Z1176:Xrcc6 UTSW 15 81,913,414 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGCAGTCGACTCTTAATGTG -3'
(R):5'- AAAGCTGCTTCCTCCTCCAG -3'

Sequencing Primer
(F):5'- GTGCCTACCATGCGTAAAGTCATG -3'
(R):5'- AGGGCCCTCTTTTGTTCACCTTAG -3'
Posted On 2016-10-26