Incidental Mutation 'R5318:Xrcc6'
ID 405949
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 042901-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5318 (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 C at 81921708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 178 (F178L)
Ref Sequence ENSEMBL: ENSMUSP00000155606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069530] [ENSMUST00000080622] [ENSMUST00000100399] [ENSMUST00000230729]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000069530
AA Change: F523L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068559
Gene: ENSMUSG00000022471
AA Change: F523L

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 noncoding transcript
Transcript: ENSMUST00000072904
Predicted Effect probably benign
Transcript: ENSMUST00000080622
SMART Domains Protein: ENSMUSP00000091840
Gene: ENSMUSG00000063480

DomainStartEndE-ValueType
Pfam:RNase_P_pop3 4 128 2.6e-8 PFAM
Pfam:Ribosomal_L7Ae 20 114 9.7e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100399
AA Change: F523L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097968
Gene: ENSMUSG00000022471
AA Change: F523L

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 noncoding transcript
Transcript: ENSMUST00000164920
Predicted Effect probably damaging
Transcript: ENSMUST00000230729
AA Change: F178L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230953
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik G A 17: 35,878,883 (GRCm39) E74K possibly damaging Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ankfn1 A G 11: 89,282,754 (GRCm39) S298P probably damaging Het
Arfgef2 A C 2: 166,715,891 (GRCm39) K1393N probably damaging Het
Atp4a T A 7: 30,414,754 (GRCm39) V181E probably damaging Het
Bin3 A G 14: 70,371,961 (GRCm39) D134G possibly damaging Het
Cabs1 A G 5: 88,128,425 (GRCm39) T359A possibly damaging Het
Cblb A T 16: 52,006,561 (GRCm39) K754N possibly damaging Het
Ccdc153 A T 9: 44,157,062 (GRCm39) R135* probably null Het
Cel T C 2: 28,447,720 (GRCm39) E398G possibly damaging Het
Clip1 G A 5: 123,751,147 (GRCm39) probably benign Het
Dnase2b C A 3: 146,288,210 (GRCm39) R295L probably benign Het
Dnm3 G A 1: 161,839,376 (GRCm39) Q194* probably null Het
Dtx2 T A 5: 136,040,954 (GRCm39) S120T possibly damaging Het
Fat3 A T 9: 16,287,925 (GRCm39) S533T probably damaging Het
Foxred2 T C 15: 77,836,598 (GRCm39) I306V probably benign Het
Gdpd5 A T 7: 99,102,234 (GRCm39) T278S probably benign Het
Gli2 T A 1: 118,772,200 (GRCm39) T502S probably damaging Het
Gm21830 A T 2: 67,263,158 (GRCm39) probably null Het
Gm5617 T A 9: 48,407,211 (GRCm39) I115N possibly damaging Het
Gpr75 G T 11: 30,842,459 (GRCm39) A455S probably benign Het
Grik3 A G 4: 125,587,929 (GRCm39) E683G probably damaging Het
Grin2b T C 6: 135,710,916 (GRCm39) I877V probably damaging Het
Gsg1l2 G T 11: 67,673,347 (GRCm39) C109F possibly damaging Het
H2-Q4 G A 17: 35,602,287 (GRCm39) V341I possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Kif5c A G 2: 49,561,840 (GRCm39) K68R probably benign Het
Lct T A 1: 128,232,109 (GRCm39) H580L probably damaging Het
Lrrtm4 A G 6: 79,999,495 (GRCm39) I302M probably damaging Het
Mef2b A T 8: 70,619,493 (GRCm39) R228W probably damaging Het
Mtus2 T A 5: 148,013,382 (GRCm39) D58E probably benign Het
Myh15 T G 16: 48,930,834 (GRCm39) S603A probably damaging Het
Or1x2 T C 11: 50,918,420 (GRCm39) V197A probably benign Het
Or8d1 C T 9: 38,766,744 (GRCm39) P129S probably damaging Het
Or8s2 A G 15: 98,276,523 (GRCm39) I156T possibly damaging Het
P2rx4 G A 5: 122,857,211 (GRCm39) C149Y probably null Het
Pramel51 A T 12: 88,142,998 (GRCm39) C207S probably benign Het
Proca1 T A 11: 78,092,683 (GRCm39) V43E possibly damaging Het
Rftn1 G T 17: 50,301,486 (GRCm39) N454K probably benign Het
Rrp15 T C 1: 186,453,743 (GRCm39) T235A probably benign Het
Serpina6 T C 12: 103,620,221 (GRCm39) E176G possibly damaging Het
Shprh T G 10: 11,042,301 (GRCm39) I761M probably benign Het
Smg1 A T 7: 117,759,427 (GRCm39) probably benign Het
Snupn T C 9: 56,864,345 (GRCm39) S15P probably damaging Het
Tbc1d15 A T 10: 115,044,874 (GRCm39) Y509* probably null Het
Tcf4 T C 18: 69,598,501 (GRCm39) V72A probably benign Het
Tdrd3 T C 14: 87,714,899 (GRCm39) probably null Het
Tm9sf4 T A 2: 153,029,576 (GRCm39) V175D probably benign Het
Vmn1r201 T C 13: 22,659,092 (GRCm39) L102P probably damaging Het
Wdfy4 T A 14: 32,800,300 (GRCm39) N1788I possibly damaging Het
Xpc A C 6: 91,469,992 (GRCm39) V744G probably damaging Het
Zbed6 A G 1: 133,585,853 (GRCm39) S495P possibly damaging Het
Zfyve26 A G 12: 79,317,624 (GRCm39) V1196A 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
R5356:Xrcc6 UTSW 15 81,913,419 (GRCm39) missense probably benign 0.00
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'- AGTCAGCTGCCTTGTATCCAG -3'
(R):5'- CTTGCTTGTGTGAAGTCCTGAC -3'

Sequencing Primer
(F):5'- GTATCCAGCCCTTCCCTCAG -3'
(R):5'- AGTCCTGACTTTGACCTCCTCAC -3'
Posted On 2016-07-22