Incidental Mutation 'R4806:Xrcc1'
ID 370680
Institutional Source Beutler Lab
Gene Symbol Xrcc1
Ensembl Gene ENSMUSG00000051768
Gene Name X-ray repair complementing defective repair in Chinese hamster cells 1
Synonyms Xrcc-1
MMRRC Submission 042425-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4806 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 24246124-24272863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 24269905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 442 (A442E)
Ref Sequence ENSEMBL: ENSMUSP00000146105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063249] [ENSMUST00000205573]
AlphaFold Q60596
Predicted Effect probably benign
Transcript: ENSMUST00000063249
AA Change: A442E

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000070995
Gene: ENSMUSG00000051768
AA Change: A442E

DomainStartEndE-ValueType
Pfam:XRCC1_N 1 151 6.9e-66 PFAM
low complexity region 212 238 N/A INTRINSIC
low complexity region 278 294 N/A INTRINSIC
BRCT 317 393 8e-19 SMART
low complexity region 407 424 N/A INTRINSIC
low complexity region 444 459 N/A INTRINSIC
BRCT 538 617 5.5e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205564
Predicted Effect probably benign
Transcript: ENSMUST00000205573
AA Change: A442E

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206429
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 100% (66/66)
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 involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants accumulate unrepaired DNA strand breaks in the egg cylinder, show increased cell death in epiblast, developmental arrest at embryonic day 6.5, morphological anomalies in visceral embryonic endoderm by day 7.5 and die by day 8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik A G 7: 27,265,070 (GRCm39) probably null Het
2410137M14Rik T A 17: 37,289,746 (GRCm39) H28L probably benign Het
4930562C15Rik T C 16: 4,667,536 (GRCm39) F309S unknown Het
Acd A G 8: 106,424,922 (GRCm39) V406A possibly damaging Het
Acin1 A T 14: 54,916,685 (GRCm39) probably benign Het
Agbl4 T C 4: 110,812,834 (GRCm39) V118A probably damaging Het
Arhgap5 A G 12: 52,565,486 (GRCm39) D819G probably damaging Het
BC049715 A T 6: 136,816,927 (GRCm39) I56F possibly damaging Het
C1rb A T 6: 124,551,908 (GRCm39) Q270L probably benign Het
Cadps2 C T 6: 23,688,859 (GRCm39) R121Q probably damaging Het
Cd84 A G 1: 171,679,688 (GRCm39) Y122C probably benign Het
Cklf C A 8: 104,984,067 (GRCm39) P77T probably damaging Het
Clrn2 T C 5: 45,611,346 (GRCm39) L65P probably damaging Het
Csde1 TCCTCGACCT TCCT 3: 102,963,685 (GRCm39) probably benign Het
Csf2rb2 T C 15: 78,169,490 (GRCm39) D446G probably benign Het
Csmd3 T C 15: 48,177,464 (GRCm39) E358G probably benign Het
Dmkn C T 7: 30,470,667 (GRCm39) T385I possibly damaging Het
Dnah10 A G 5: 124,896,408 (GRCm39) T3591A probably damaging Het
Dpp9 A G 17: 56,497,030 (GRCm39) L734P probably damaging Het
Edem2 A G 2: 155,570,913 (GRCm39) V39A possibly damaging Het
Glmp A C 3: 88,233,320 (GRCm39) probably benign Het
Gm20775 T C Y: 10,641,885 (GRCm39) noncoding transcript Het
Gpr179 T G 11: 97,240,610 (GRCm39) D271A possibly damaging Het
Gtf2ird1 A G 5: 134,412,750 (GRCm39) V587A probably damaging Het
Igfn1 T A 1: 135,895,095 (GRCm39) T1824S probably benign Het
Ighmbp2 A T 19: 3,311,589 (GRCm39) I942N probably damaging Het
Ints2 A G 11: 86,147,035 (GRCm39) L37P probably benign Het
Irgq T A 7: 24,233,470 (GRCm39) L437Q probably damaging Het
Kcnq4 A T 4: 120,570,291 (GRCm39) W351R probably damaging Het
Kif3b G A 2: 153,162,288 (GRCm39) A500T probably damaging Het
Lpp A G 16: 24,480,430 (GRCm39) D66G probably damaging Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Mc4r T A 18: 66,992,559 (GRCm39) I185F probably damaging Het
Mdga1 T C 17: 30,061,128 (GRCm39) D621G probably benign Het
Med13 A G 11: 86,189,403 (GRCm39) S1169P probably benign Het
Myh11 A T 16: 14,018,947 (GRCm39) probably null Het
Naip1 G A 13: 100,562,129 (GRCm39) A1012V probably benign Het
Ntn4 C T 10: 93,480,362 (GRCm39) R29C probably damaging Het
Plb1 G A 5: 32,447,196 (GRCm39) G321D probably damaging Het
Plxnd1 A G 6: 115,937,816 (GRCm39) V1510A probably damaging Het
Polr1e T A 4: 45,024,482 (GRCm39) M131K probably benign Het
Prdm10 T A 9: 31,241,237 (GRCm39) *342R probably null Het
Prex2 T C 1: 11,138,244 (GRCm39) F108L probably damaging Het
Psmg2 T A 18: 67,781,992 (GRCm39) I186N probably benign Het
Ros1 T A 10: 51,972,271 (GRCm39) E1614D probably damaging Het
Sin3a G A 9: 56,994,026 (GRCm39) V44M probably damaging Het
Slco1a1 G A 6: 141,854,735 (GRCm39) L639F possibly damaging Het
Smr2 T G 5: 88,246,289 (GRCm39) L101* probably null Het
Spata31d1b C T 13: 59,863,535 (GRCm39) P228S probably benign Het
Stat5b G T 11: 100,681,623 (GRCm39) H544N probably benign Het
Syk A T 13: 52,786,963 (GRCm39) Y319F probably benign Het
Tln2 G T 9: 67,239,015 (GRCm39) T1087K probably benign Het
Tsc22d1 A G 14: 76,654,428 (GRCm39) probably null Het
Vmn2r52 T A 7: 9,893,169 (GRCm39) T657S probably damaging Het
Vmn2r63 A T 7: 42,576,314 (GRCm39) S500T probably benign Het
Vps45 A C 3: 95,953,725 (GRCm39) V209G probably benign Het
Ythdc1 T A 5: 86,970,704 (GRCm39) V430E probably damaging Het
Zfp341 G A 2: 154,487,786 (GRCm39) probably benign Het
Zfp422 A T 6: 116,603,623 (GRCm39) N125K probably damaging Het
Zfp53 T A 17: 21,725,263 (GRCm39) D58E possibly damaging Het
Zfp707 C T 15: 75,845,000 (GRCm39) Q66* probably null Het
Other mutations in Xrcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Xrcc1 APN 7 24,247,309 (GRCm39) critical splice donor site probably null
IGL01830:Xrcc1 APN 7 24,272,767 (GRCm39) utr 3 prime probably benign
IGL02349:Xrcc1 APN 7 24,266,467 (GRCm39) nonsense probably null
IGL02433:Xrcc1 APN 7 24,264,979 (GRCm39) missense possibly damaging 0.96
IGL03131:Xrcc1 APN 7 24,272,719 (GRCm39) nonsense probably null
Bilberry UTSW 7 24,269,643 (GRCm39) missense probably damaging 1.00
R0090:Xrcc1 UTSW 7 24,269,642 (GRCm39) missense probably damaging 0.99
R0517:Xrcc1 UTSW 7 24,269,744 (GRCm39) splice site probably benign
R0612:Xrcc1 UTSW 7 24,269,744 (GRCm39) splice site probably benign
R1234:Xrcc1 UTSW 7 24,267,270 (GRCm39) missense possibly damaging 0.71
R1577:Xrcc1 UTSW 7 24,265,052 (GRCm39) nonsense probably null
R1796:Xrcc1 UTSW 7 24,247,252 (GRCm39) missense probably damaging 1.00
R1863:Xrcc1 UTSW 7 24,270,000 (GRCm39) missense possibly damaging 0.65
R3788:Xrcc1 UTSW 7 24,266,333 (GRCm39) missense probably benign 0.08
R3794:Xrcc1 UTSW 7 24,269,985 (GRCm39) missense probably benign 0.05
R5206:Xrcc1 UTSW 7 24,266,988 (GRCm39) missense probably damaging 1.00
R5414:Xrcc1 UTSW 7 24,269,643 (GRCm39) missense probably damaging 1.00
R5532:Xrcc1 UTSW 7 24,267,353 (GRCm39) critical splice donor site probably null
R5624:Xrcc1 UTSW 7 24,259,270 (GRCm39) missense possibly damaging 0.57
R5990:Xrcc1 UTSW 7 24,267,293 (GRCm39) missense probably damaging 1.00
R6603:Xrcc1 UTSW 7 24,270,459 (GRCm39) nonsense probably null
R6669:Xrcc1 UTSW 7 24,246,762 (GRCm39) missense probably damaging 1.00
R6716:Xrcc1 UTSW 7 24,266,571 (GRCm39) critical splice donor site probably null
R6881:Xrcc1 UTSW 7 24,246,776 (GRCm39) nonsense probably null
R7227:Xrcc1 UTSW 7 24,246,757 (GRCm39) missense probably damaging 1.00
R8204:Xrcc1 UTSW 7 24,271,709 (GRCm39) missense possibly damaging 0.88
R8284:Xrcc1 UTSW 7 24,271,703 (GRCm39) missense probably damaging 1.00
R8285:Xrcc1 UTSW 7 24,271,703 (GRCm39) missense probably damaging 1.00
R8287:Xrcc1 UTSW 7 24,271,703 (GRCm39) missense probably damaging 1.00
R9015:Xrcc1 UTSW 7 24,271,642 (GRCm39) missense probably benign 0.05
R9607:Xrcc1 UTSW 7 24,265,690 (GRCm39) missense probably benign 0.17
X0019:Xrcc1 UTSW 7 24,272,553 (GRCm39) missense probably damaging 1.00
X0024:Xrcc1 UTSW 7 24,272,504 (GRCm39) missense probably damaging 1.00
Z1176:Xrcc1 UTSW 7 24,247,264 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- AAGGTCTGATGCCCCTATGG -3'
(R):5'- TTTTCAGGGTACACAGTGGCC -3'

Sequencing Primer
(F):5'- CTATGGGGCCAGGAGGGAATAC -3'
(R):5'- TACACAGTGGCCCCTCC -3'
Posted On 2016-02-04