Incidental Mutation 'IGL01376:Xrcc4'
ID 78728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xrcc4
Ensembl Gene ENSMUSG00000021615
Gene Name X-ray repair complementing defective repair in Chinese hamster cells 4
Synonyms 2310057B22Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # IGL01376
Quality Score
Chromosome 13
Chromosomal Location 89997033-90237727 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90210169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 92 (S92T)
Ref Sequence ENSEMBL: ENSMUSP00000125486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022115] [ENSMUST00000159199] [ENSMUST00000160232] [ENSMUST00000161396]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000022115
AA Change: S92T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022115
Gene: ENSMUSG00000021615
AA Change: S92T

Pfam:XRCC4 1 326 1.5e-153 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159199
AA Change: S92T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123934
Gene: ENSMUSG00000021615
AA Change: S92T

Pfam:XRCC4 1 310 2.7e-151 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160232
AA Change: S92T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000125486
Gene: ENSMUSG00000021615
AA Change: S92T

Pfam:XRCC4 1 94 4.8e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161396
SMART Domains Protein: ENSMUSP00000124573
Gene: ENSMUSG00000021615

Pfam:XRCC4 1 83 5.4e-45 PFAM
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A T 2: 35,245,640 (GRCm39) I61K probably benign Het
Acot12 A G 13: 91,932,790 (GRCm39) Y521C probably damaging Het
Anxa7 T C 14: 20,510,524 (GRCm39) N313D probably benign Het
Cdk14 T C 5: 5,060,839 (GRCm39) I327M probably damaging Het
Clca3b T C 3: 144,531,812 (GRCm39) N664S possibly damaging Het
Cpb1 A C 3: 20,324,488 (GRCm39) L62R probably benign Het
Cracdl A G 1: 37,667,425 (GRCm39) L207P probably damaging Het
Eef2 G A 10: 81,013,883 (GRCm39) probably benign Het
Enox1 T C 14: 77,489,283 (GRCm39) probably benign Het
Esco1 A T 18: 10,594,892 (GRCm39) C131* probably null Het
Etv1 A T 12: 38,907,039 (GRCm39) D347V probably damaging Het
Fat1 A G 8: 45,479,878 (GRCm39) I2975V probably benign Het
Ghsr A G 3: 27,425,977 (GRCm39) E11G probably benign Het
Gins4 T C 8: 23,717,343 (GRCm39) D166G probably benign Het
Iglv2 G T 16: 19,079,315 (GRCm39) H62N possibly damaging Het
Irf2bp1 T C 7: 18,739,952 (GRCm39) S531P possibly damaging Het
Lrig3 T A 10: 125,830,335 (GRCm39) F144L probably benign Het
Magi1 C T 6: 94,260,074 (GRCm39) R77Q possibly damaging Het
Mlkl A G 8: 112,046,379 (GRCm39) L298P probably damaging Het
Ndc1 T C 4: 107,232,394 (GRCm39) L193P probably damaging Het
Npas3 A T 12: 54,091,369 (GRCm39) T308S probably benign Het
Nt5dc3 A T 10: 86,670,028 (GRCm39) Q541L probably benign Het
Or10ag53 T C 2: 87,083,217 (GRCm39) V312A possibly damaging Het
Or8k37 A C 2: 86,469,953 (GRCm39) V33G probably benign Het
Parp10 G T 15: 76,125,877 (GRCm39) T437K probably benign Het
Phf3 A G 1: 30,869,566 (GRCm39) V494A possibly damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Sars2 T A 7: 28,449,308 (GRCm39) Y307N probably damaging Het
Serping1 A T 2: 84,600,529 (GRCm39) V271E probably damaging Het
Sgpl1 G A 10: 60,949,849 (GRCm39) P117S probably damaging Het
Slc38a1 A C 15: 96,483,437 (GRCm39) L297R probably damaging Het
Strbp A G 2: 37,535,663 (GRCm39) M15T probably damaging Het
Tdp2 A G 13: 25,020,932 (GRCm39) probably null Het
Tex10 T C 4: 48,456,740 (GRCm39) Y657C possibly damaging Het
Other mutations in Xrcc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:Xrcc4 APN 13 90,210,151 (GRCm39) nonsense probably null
R0624:Xrcc4 UTSW 13 90,140,594 (GRCm39) missense possibly damaging 0.81
R0629:Xrcc4 UTSW 13 90,149,024 (GRCm39) splice site probably benign
R1801:Xrcc4 UTSW 13 90,140,698 (GRCm39) missense probably damaging 1.00
R2567:Xrcc4 UTSW 13 90,210,261 (GRCm39) missense probably damaging 0.99
R3055:Xrcc4 UTSW 13 90,210,196 (GRCm39) missense probably benign 0.06
R3056:Xrcc4 UTSW 13 90,210,196 (GRCm39) missense probably benign 0.06
R3941:Xrcc4 UTSW 13 90,219,752 (GRCm39) missense probably benign 0.01
R4486:Xrcc4 UTSW 13 90,140,707 (GRCm39) missense possibly damaging 0.79
R4556:Xrcc4 UTSW 13 90,140,623 (GRCm39) missense probably benign 0.02
R4599:Xrcc4 UTSW 13 90,210,126 (GRCm39) critical splice donor site probably null
R6057:Xrcc4 UTSW 13 90,139,198 (GRCm39) missense possibly damaging 0.95
R6262:Xrcc4 UTSW 13 89,926,906 (GRCm39) missense probably benign 0.00
R6597:Xrcc4 UTSW 13 90,149,048 (GRCm39) missense probably benign 0.24
R9080:Xrcc4 UTSW 13 90,149,097 (GRCm39) missense probably damaging 0.99
R9535:Xrcc4 UTSW 13 90,089,118 (GRCm39) missense probably benign 0.00
Z1176:Xrcc4 UTSW 13 90,089,161 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05