Incidental Mutation 'R5937:Xrcc3'
ID 462336
Institutional Source Beutler Lab
Gene Symbol Xrcc3
Ensembl Gene ENSMUSG00000021287
Gene Name X-ray repair complementing defective repair in Chinese hamster cells 3
Synonyms 4432412E01Rik
MMRRC Submission 043242-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5937 (G1)
Quality Score 98
Status Not validated
Chromosome 12
Chromosomal Location 111769626-111780307 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 111774406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 141 (C141S)
Ref Sequence ENSEMBL: ENSMUSP00000021715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021715] [ENSMUST00000084941] [ENSMUST00000122300] [ENSMUST00000127281] [ENSMUST00000134578]
AlphaFold Q9CXE6
Predicted Effect probably null
Transcript: ENSMUST00000021715
AA Change: C141S

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021715
Gene: ENSMUSG00000021287
AA Change: C141S

DomainStartEndE-ValueType
Pfam:Rad51 64 343 1.2e-25 PFAM
Pfam:AAA_25 70 261 2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084941
SMART Domains Protein: ENSMUSP00000082004
Gene: ENSMUSG00000021288

DomainStartEndE-ValueType
coiled coil region 86 156 N/A INTRINSIC
low complexity region 158 179 N/A INTRINSIC
low complexity region 188 206 N/A INTRINSIC
Pfam:TPR_10 212 253 3.1e-9 PFAM
TPR 255 288 3.81e-1 SMART
TPR 297 330 1.16e-5 SMART
TPR 339 372 4.77e-2 SMART
TPR 381 414 2.78e-3 SMART
TPR 464 497 4.93e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122300
SMART Domains Protein: ENSMUSP00000113997
Gene: ENSMUSG00000021288

DomainStartEndE-ValueType
Pfam:Rab5-bind 80 254 1e-68 PFAM
Pfam:TPR_10 212 253 8.4e-9 PFAM
TPR 255 288 3.81e-1 SMART
TPR 297 330 1.16e-5 SMART
TPR 339 372 4.77e-2 SMART
TPR 381 414 2.78e-3 SMART
TPR 464 497 2.99e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124064
Predicted Effect probably damaging
Transcript: ENSMUST00000127281
AA Change: C141S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118040
Gene: ENSMUSG00000021287
AA Change: C141S

DomainStartEndE-ValueType
Pfam:Rad51 64 193 4e-17 PFAM
Pfam:AAA_25 70 192 2.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145109
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133679
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141435
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147203
Predicted Effect probably benign
Transcript: ENSMUST00000134578
SMART Domains Protein: ENSMUSP00000120491
Gene: ENSMUSG00000021288

DomainStartEndE-ValueType
Pfam:TPR_1 1 25 1.9e-4 PFAM
Pfam:TPR_7 1 36 1.9e-4 PFAM
Pfam:TPR_10 75 112 7.8e-9 PFAM
Pfam:TPR_1 77 98 1.4e-4 PFAM
Pfam:TPR_7 78 129 1.7e-5 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.5%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. Allelic variants in the human gene are associated with susceptibility to breast cancer and cutaneous malignant melanoma. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,791,495 (GRCm39) W314R probably benign Het
Adgrv1 A T 13: 81,255,194 (GRCm39) V6143E probably damaging Het
Agap3 C T 5: 24,682,815 (GRCm39) T261I probably damaging Het
Ano6 T C 15: 95,811,838 (GRCm39) I241T probably damaging Het
Arhgef28 T C 13: 98,076,051 (GRCm39) T1328A probably benign Het
Capn10 C T 1: 92,867,105 (GRCm39) R112W probably damaging Het
Car5a A T 8: 122,666,560 (GRCm39) W46R probably damaging Het
Cntn6 C A 6: 104,810,064 (GRCm39) T582K possibly damaging Het
Ctsh T C 9: 89,943,509 (GRCm39) V60A probably benign Het
Ctsll3 A G 13: 60,947,410 (GRCm39) F259L probably damaging Het
Dennd2b A T 7: 109,156,478 (GRCm39) C91S possibly damaging Het
Fam228a T C 12: 4,787,725 (GRCm39) E16G probably damaging Het
G3bp2 A G 5: 92,203,256 (GRCm39) I388T probably damaging Het
Galnt5 A T 2: 57,928,949 (GRCm39) K926N probably benign Het
Gm10097 G A 10: 5,019,485 (GRCm39) probably benign Het
Gm9978 T A 10: 78,322,675 (GRCm39) noncoding transcript Het
Gria1 A G 11: 57,080,559 (GRCm39) T112A probably benign Het
Hnrnpk A C 13: 58,543,016 (GRCm39) V134G probably damaging Het
Insr A G 8: 3,224,808 (GRCm39) V220A probably benign Het
Lhx4 A G 1: 155,586,023 (GRCm39) I96T probably damaging Het
Lrp1 T C 10: 127,419,745 (GRCm39) T955A possibly damaging Het
Lrtm1 T C 14: 28,743,787 (GRCm39) V85A possibly damaging Het
Man2a2 T C 7: 80,013,251 (GRCm39) Y514C probably damaging Het
Npas1 T A 7: 16,197,187 (GRCm39) D226V probably benign Het
Nrcam G A 12: 44,619,074 (GRCm39) V858I probably benign Het
Or14c40 G T 7: 86,313,684 (GRCm39) L271F probably benign Het
Or5b108 T A 19: 13,168,675 (GRCm39) S215T probably damaging Het
Pde6b G T 5: 108,572,193 (GRCm39) A478S probably benign Het
Pex1 T A 5: 3,674,487 (GRCm39) N789K possibly damaging Het
Plekha6 A G 1: 133,187,839 (GRCm39) D120G possibly damaging Het
Pomgnt1 A G 4: 116,011,110 (GRCm39) T220A probably benign Het
Sdr39u1 A T 14: 56,135,364 (GRCm39) I193K probably damaging Het
Sec61a2 C A 2: 5,891,368 (GRCm39) M54I probably benign Het
Sema5a A G 15: 32,574,987 (GRCm39) Y365C probably damaging Het
Sra1 C T 18: 36,804,652 (GRCm39) probably null Het
Taf5 C T 19: 47,070,334 (GRCm39) S640L probably damaging Het
Tas2r140 T A 6: 133,032,236 (GRCm39) H174L probably benign Het
Tmem63a T A 1: 180,788,716 (GRCm39) V351D probably damaging Het
Ttll7 C T 3: 146,649,847 (GRCm39) Q626* probably null Het
Ubn2 T A 6: 38,440,917 (GRCm39) V263E possibly damaging Het
Vmn2r106 C T 17: 20,505,667 (GRCm39) W9* probably null Het
Zfp516 T A 18: 82,974,958 (GRCm39) D385E probably damaging Het
Other mutations in Xrcc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0396:Xrcc3 UTSW 12 111,776,391 (GRCm39) missense probably benign 0.00
R4534:Xrcc3 UTSW 12 111,770,966 (GRCm39) missense probably damaging 0.99
R4535:Xrcc3 UTSW 12 111,770,966 (GRCm39) missense probably damaging 0.99
R5406:Xrcc3 UTSW 12 111,778,545 (GRCm39) missense probably damaging 0.99
R5762:Xrcc3 UTSW 12 111,771,044 (GRCm39) missense probably damaging 0.97
R5842:Xrcc3 UTSW 12 111,770,964 (GRCm39) missense possibly damaging 0.94
R6985:Xrcc3 UTSW 12 111,778,530 (GRCm39) missense probably damaging 0.98
R7011:Xrcc3 UTSW 12 111,770,969 (GRCm39) missense probably damaging 1.00
R7560:Xrcc3 UTSW 12 111,774,336 (GRCm39) missense probably benign 0.00
R8680:Xrcc3 UTSW 12 111,774,313 (GRCm39) missense probably damaging 0.99
R9310:Xrcc3 UTSW 12 111,771,485 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCATCTGTGAGCACAAGCAG -3'
(R):5'- AGGAGCATAGATGTGTGTACTCAG -3'

Sequencing Primer
(F):5'- TGTGAGCACAAGCAGCACTC -3'
(R):5'- CTAGCCTGTGTTCCTAAGGAGC -3'
Posted On 2017-02-28