Incidental Mutation 'R9535:Xrcc4'
ID 719665
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.447) question?
Stock # R9535 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 89774027-90089608 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89940999 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 280 (M280L)
Ref Sequence ENSEMBL: ENSMUSP00000022115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022115] [ENSMUST00000159199]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000022115
AA Change: M280L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022115
Gene: ENSMUSG00000021615
AA Change: M280L

Pfam:XRCC4 1 326 1.5e-153 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159199
AA Change: M280L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123934
Gene: ENSMUSG00000021615
AA Change: M280L

Pfam:XRCC4 1 310 2.7e-151 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930548H24Rik A G 5: 31,487,610 I236V probably benign Het
4930583I09Rik T A 17: 64,834,331 R65S unknown Het
4931408C20Rik A C 1: 26,682,151 L1316* probably null Het
Abcc6 A G 7: 45,977,263 S1457P probably damaging Het
Alad T C 4: 62,510,540 D259G probably damaging Het
Atmin A G 8: 116,956,588 D329G probably damaging Het
Cdkal1 A G 13: 29,850,024 F29L probably benign Het
Chrng C T 1: 87,211,480 P518S probably benign Het
Cpa1 G T 6: 30,641,848 D224Y probably damaging Het
D6Ertd527e G C 6: 87,111,857 S334T unknown Het
Dennd5b T C 6: 148,993,867 I1222V probably benign Het
Dnm1 A T 2: 32,312,332 S773T probably benign Het
Fam208b T A 13: 3,573,559 R2130S possibly damaging Het
Glmn A T 5: 107,558,502 V419E possibly damaging Het
Il18rap T A 1: 40,547,830 V424E probably benign Het
Kdm6b C A 11: 69,406,450 G359* probably null Het
Krt84 A G 15: 101,529,581 probably null Het
Lig4 C A 8: 9,972,325 C485F probably damaging Het
Mpo T A 11: 87,799,968 W411R probably damaging Het
Mpv17l A G 16: 13,941,285 E8G probably benign Het
Mrps34 T C 17: 24,895,477 Y104H probably benign Het
Muc15 T A 2: 110,731,662 W148R probably damaging Het
Nrg1 T C 8: 31,949,967 D134G probably benign Het
Prdm1 T C 10: 44,441,612 Y405C probably damaging Het
Ptprb T C 10: 116,322,526 S501P possibly damaging Het
Pwp1 C A 10: 85,888,094 S486R possibly damaging Het
Rtl1 T C 12: 109,590,737 E1556G probably damaging Het
Rtl1 T C 12: 109,595,264 Q47R unknown Het
Siglece A G 7: 43,657,631 F311L probably benign Het
Slc27a3 A G 3: 90,386,311 L589P probably damaging Het
Synrg T A 11: 83,990,834 M332K probably benign Het
Tecta T A 9: 42,359,463 N1183I probably damaging Het
Tmed11 A G 5: 108,779,049 I119T possibly damaging Het
Ttll3 C T 6: 113,412,873 R740W probably damaging Het
Usp40 T C 1: 88,007,439 probably benign Het
Vmn1r236 C T 17: 21,287,156 H179Y probably benign Het
Wwtr1 T C 3: 57,477,404 M298V possibly 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
R4486:Xrcc4 UTSW 13 89992588 missense possibly damaging 0.79
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
Z1176:Xrcc4 UTSW 13 89941042 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-07-18