Incidental Mutation 'R5356:Xrcc6'
ID 424127
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 042935-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5356 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 81872036-81924286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81913419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 6 (T6A)
Ref Sequence ENSEMBL: ENSMUSP00000155606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069530] [ENSMUST00000100399] [ENSMUST00000164779] [ENSMUST00000230729] [ENSMUST00000170630]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000069530
AA Change: T351A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068559
Gene: ENSMUSG00000022471
AA Change: T351A

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 benign
Transcript: ENSMUST00000100399
AA Change: T351A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097968
Gene: ENSMUSG00000022471
AA Change: T351A

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 noncoding transcript
Transcript: ENSMUST00000164775
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: ENSMUST00000164920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170907
Predicted Effect probably benign
Transcript: ENSMUST00000230729
AA Change: T6A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 C T 3: 37,119,405 (GRCm39) T162I probably damaging Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Amn1 T C 6: 149,068,392 (GRCm39) I205M possibly damaging Het
Ankrd50 A C 3: 38,510,334 (GRCm39) S678A probably damaging Het
Atg13 G A 2: 91,522,811 (GRCm39) R78* probably null Het
Bmper T G 9: 23,285,157 (GRCm39) F235L probably benign Het
Btn2a2 C T 13: 23,667,045 (GRCm39) V187I probably benign Het
Cabs1 G A 5: 88,127,492 (GRCm39) V48I probably benign Het
Cacnb3 A G 15: 98,539,498 (GRCm39) I212V probably damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cep162 T C 9: 87,088,948 (GRCm39) E978G probably damaging Het
Cmya5 A T 13: 93,199,993 (GRCm39) L3445Q probably damaging Het
Cntrl T A 2: 35,038,911 (GRCm39) L1067* probably null Het
Cyp20a1 G A 1: 60,418,546 (GRCm39) V329I probably benign Het
Cyp2d11 A T 15: 82,274,712 (GRCm39) N288K probably benign Het
D430041D05Rik T G 2: 104,085,754 (GRCm39) T932P probably damaging Het
Dlk1 T A 12: 109,421,447 (GRCm39) C54S probably damaging Het
Dusp29 G A 14: 21,727,091 (GRCm39) R186W probably benign Het
Entpd6 T A 2: 150,612,303 (GRCm39) F416L probably damaging Het
Evx1 A G 6: 52,293,602 (GRCm39) T257A probably benign Het
Fpr-rs3 A T 17: 20,844,596 (GRCm39) S182T probably damaging Het
Glra3 A T 8: 56,393,936 (GRCm39) I16F probably benign Het
Gm11437 C A 11: 84,043,513 (GRCm39) L259F possibly damaging Het
Gorasp1 A T 9: 119,757,024 (GRCm39) L386Q probably damaging Het
Gpsm1 T C 2: 26,230,574 (GRCm39) V508A possibly damaging Het
Gstm1 T A 3: 107,920,052 (GRCm39) I180F probably benign Het
Hc T C 2: 34,885,007 (GRCm39) D1400G probably benign Het
Lrp2 A G 2: 69,295,052 (GRCm39) V3422A possibly damaging Het
Map3k4 A G 17: 12,466,195 (GRCm39) V1128A possibly damaging Het
Mboat2 G C 12: 25,007,572 (GRCm39) V363L probably benign Het
Mgat3 A G 15: 80,095,811 (GRCm39) I213V possibly damaging Het
Mgat3 A G 15: 80,096,655 (GRCm39) N494S probably damaging Het
Mtf2 A T 5: 108,254,476 (GRCm39) T426S possibly damaging Het
Muc3a T C 5: 137,245,021 (GRCm39) I151V probably benign Het
Myh6 T C 14: 55,191,219 (GRCm39) E874G probably damaging Het
Myo15a G A 11: 60,389,192 (GRCm39) G2030R probably damaging Het
Ncdn T C 4: 126,641,021 (GRCm39) Y493C probably damaging Het
Ncoa6 A G 2: 155,263,112 (GRCm39) F441L probably damaging Het
Ndc80 A T 17: 71,828,103 (GRCm39) S75T possibly damaging Het
Nf1 T C 11: 79,364,282 (GRCm39) F1571L possibly damaging Het
Nherf2 A G 17: 24,860,945 (GRCm39) V88A probably damaging Het
Nme8 A G 13: 19,836,469 (GRCm39) F236L probably damaging Het
Nsmce4a C A 7: 130,138,778 (GRCm39) V289L probably damaging Het
Ntrk2 A T 13: 59,208,056 (GRCm39) D634V probably damaging Het
Pcsk6 G C 7: 65,620,340 (GRCm39) E479Q probably damaging Het
Pkd1 A G 17: 24,812,551 (GRCm39) Q3828R probably damaging Het
Ptov1 T A 7: 44,514,089 (GRCm39) T295S probably damaging Het
Ptprf A G 4: 118,083,535 (GRCm39) M824T probably benign Het
Rbm6 T A 9: 107,729,865 (GRCm39) H129L probably damaging Het
Rbm8a2 A G 1: 175,806,255 (GRCm39) I74T possibly damaging Het
Ret A G 6: 118,174,079 (GRCm39) S6P possibly damaging Het
Rspo3 A T 10: 29,376,064 (GRCm39) C70* probably null Het
Sike1 C A 3: 102,909,106 (GRCm39) A202D possibly damaging Het
Slco4c1 G T 1: 96,759,835 (GRCm39) P499H probably damaging Het
Smg1 A G 7: 117,794,356 (GRCm39) probably benign Het
Tmem135 A G 7: 88,954,723 (GRCm39) V98A probably benign Het
Tor4a T A 2: 25,085,918 (GRCm39) probably null Het
Txlna A G 4: 129,524,166 (GRCm39) F397S probably damaging Het
Tyk2 A G 9: 21,027,040 (GRCm39) I581T probably benign Het
Unc13a C T 8: 72,115,158 (GRCm39) D164N probably benign Het
Vwa3b T C 1: 37,153,664 (GRCm39) I502T probably damaging Het
Zfp524 T C 7: 5,021,432 (GRCm39) V320A probably benign 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
R5576:Xrcc6 UTSW 15 81,906,693 (GRCm39) missense probably damaging 1.00
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'- TTGGTGGCCGCAGATTCATC -3'
(R):5'- TGCATCTCTTGTAGGTATCTCAG -3'

Sequencing Primer
(F):5'- GGCCGCAGATTCATCTCCAC -3'
(R):5'- GGTATCTCAGCCATTTAGGAAACAC -3'
Posted On 2016-08-04