Incidental Mutation 'R4486:Xrcc4'
ID 331631
Institutional Source Beutler Lab
Gene Symbol Xrcc4
Ensembl Gene ENSMUSG00000021615
Gene Name X-ray repair complementing defective repair in Chinese hamster cells 4
MMRRC Submission 041742-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.508) question?
Stock # R4486 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 89774027-90089608 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 89992588 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 167 (S167R)
Ref Sequence ENSEMBL: ENSMUSP00000123934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022115] [ENSMUST00000159199]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000022115
AA Change: S167R

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022115
Gene: ENSMUSG00000021615
AA Change: S167R

Pfam:XRCC4 1 326 1.5e-153 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000159199
AA Change: S167R

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123934
Gene: ENSMUSG00000021615
AA Change: S167R

Pfam:XRCC4 1 310 2.7e-151 PFAM
Meta Mutation Damage Score 0.2027 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 94% (45/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternative splicing generates several transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous null mutants have massive neuronal apoptosis, growth retardation, hypoplastic thymus and die by embryonic day 17.5. Lethality is rescued by Trp53 deficiency, but double knockout mice die from pro-B-cell lymphomas with Myc-Igh translocations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,178,283 V484A probably damaging Het
Adam22 A T 5: 8,180,227 probably benign Het
Adamts18 G T 8: 113,713,193 P923T probably benign Het
AI314180 A G 4: 58,820,086 probably benign Het
Ank3 C T 10: 70,001,974 T1604I possibly damaging Het
Armc10 A G 5: 21,653,434 Q159R probably damaging Het
Arnt2 T A 7: 84,275,345 T425S probably benign Het
B4galt3 A G 1: 171,271,773 T36A possibly damaging Het
Bbx A G 16: 50,200,414 V799A probably damaging Het
Bud23 T C 5: 135,063,925 probably null Het
Cnga2 T A X: 72,006,127 F133I possibly damaging Het
Crispld1 A G 1: 17,752,878 T390A probably benign Het
Cyp4f39 T A 17: 32,483,454 D308E probably damaging Het
Dnah6 A G 6: 73,038,746 V3584A probably damaging Het
Frk T C 10: 34,608,381 I450T probably benign Het
Grm6 T C 11: 50,859,989 S660P probably damaging Het
Hao2 T A 3: 98,882,025 I116F probably damaging Het
Hyi G A 4: 118,362,477 G237D probably damaging Het
Jrkl T C 9: 13,245,371 N95S probably benign Het
Kif1bp A G 10: 62,563,027 probably benign Het
Nanog T C 6: 122,712,717 probably null Het
Ngf G A 3: 102,520,699 D255N probably damaging Het
Nlrp4e A G 7: 23,321,227 I380V probably benign Het
Olfr676 T C 7: 105,035,303 F35S probably benign Het
Olfr813 T C 10: 129,856,698 F60S probably damaging Het
Pcdha3 T C 18: 36,947,351 V382A probably damaging Het
Pla2g4c T A 7: 13,337,751 N165K probably benign Het
Rexo5 T C 7: 119,825,577 I362T probably benign Het
Rpl7a-ps3 G A 15: 36,308,283 noncoding transcript Het
Rpusd2 T C 2: 119,035,224 V134A probably damaging Het
Serpina1c T A 12: 103,897,000 probably null Het
Slc6a19 A T 13: 73,681,717 I606N probably damaging Het
Smchd1 T C 17: 71,407,235 T878A probably benign Het
Tas2r143 A G 6: 42,400,694 M153V probably benign Het
Thrb G T 14: 17,925,640 M1I probably null Het
Trbc2 A G 6: 41,546,880 probably benign Het
Trim37 T A 11: 87,196,825 S587R probably benign Het
Ulbp1 T A 10: 7,447,397 H151L probably benign Het
Vmn2r54 A T 7: 12,632,272 L245* probably null Het
Vmn2r78 A C 7: 86,920,751 probably null Het
Xlr5b T C X: 73,157,898 probably null Het
Zfp994 C T 17: 22,201,560 C136Y probably damaging Het
Other mutations in Xrcc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01376:Xrcc4 APN 13 90062050 missense probably benign 0.00
IGL01486:Xrcc4 APN 13 90062032 nonsense probably null
R0624:Xrcc4 UTSW 13 89992475 missense possibly damaging 0.81
R0629:Xrcc4 UTSW 13 90000905 splice site probably benign
R1801:Xrcc4 UTSW 13 89992579 missense probably damaging 1.00
R2567:Xrcc4 UTSW 13 90062142 missense probably damaging 0.99
R3055:Xrcc4 UTSW 13 90062077 missense probably benign 0.06
R3056:Xrcc4 UTSW 13 90062077 missense probably benign 0.06
R3941:Xrcc4 UTSW 13 90071633 missense probably benign 0.01
R4556:Xrcc4 UTSW 13 89992504 missense probably benign 0.02
R4599:Xrcc4 UTSW 13 90062007 critical splice donor site probably null
R6057:Xrcc4 UTSW 13 89991079 missense possibly damaging 0.95
R6262:Xrcc4 UTSW 13 89778787 missense probably benign 0.00
R6597:Xrcc4 UTSW 13 90000929 missense probably benign 0.24
R9080:Xrcc4 UTSW 13 90000978 missense probably damaging 0.99
R9535:Xrcc4 UTSW 13 89940999 missense probably benign 0.00
Z1176:Xrcc4 UTSW 13 89941042 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-07-21