Incidental Mutation 'IGL01376:Xrcc4'
ID78728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xrcc4
Ensembl Gene ENSMUSG00000021615
Gene NameX-ray repair complementing defective repair in Chinese hamster cells 4
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.364) question?
Stock #IGL01376
Quality Score
Status
Chromosome13
Chromosomal Location89774027-90089608 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 90062050 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

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

DomainStartEndE-ValueType
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
2010300C02Rik A G 1: 37,628,344 L207P probably damaging Het
4930568D16Rik A T 2: 35,355,628 I61K probably benign Het
Acot12 A G 13: 91,784,671 Y521C probably damaging Het
Anxa7 T C 14: 20,460,456 N313D probably benign Het
Cdk14 T C 5: 5,010,839 I327M probably damaging Het
Clca3b T C 3: 144,826,051 N664S possibly damaging Het
Cpb1 A C 3: 20,270,324 L62R probably benign Het
Eef2 G A 10: 81,178,049 probably benign Het
Enox1 T C 14: 77,251,843 probably benign Het
Esco1 A T 18: 10,594,892 C131* probably null Het
Etv1 A T 12: 38,857,040 D347V probably damaging Het
Fat1 A G 8: 45,026,841 I2975V probably benign Het
Ghsr A G 3: 27,371,828 E11G probably benign Het
Gins4 T C 8: 23,227,327 D166G probably benign Het
Iglv2 G T 16: 19,260,565 H62N possibly damaging Het
Irf2bp1 T C 7: 19,006,027 S531P possibly damaging Het
Lrig3 T A 10: 125,994,466 F144L probably benign Het
Magi1 C T 6: 94,283,093 R77Q possibly damaging Het
Mlkl A G 8: 111,319,747 L298P probably damaging Het
Ndc1 T C 4: 107,375,197 L193P probably damaging Het
Npas3 A T 12: 54,044,586 T308S probably benign Het
Nt5dc3 A T 10: 86,834,164 Q541L probably benign Het
Olfr1084 A C 2: 86,639,609 V33G probably benign Het
Olfr1115 T C 2: 87,252,873 V312A possibly damaging Het
Parp10 G T 15: 76,241,677 T437K probably benign Het
Phf3 A G 1: 30,830,485 V494A possibly damaging Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Sars2 T A 7: 28,749,883 Y307N probably damaging Het
Serping1 A T 2: 84,770,185 V271E probably damaging Het
Sgpl1 G A 10: 61,114,070 P117S probably damaging Het
Slc38a1 A C 15: 96,585,556 L297R probably damaging Het
Strbp A G 2: 37,645,651 M15T probably damaging Het
Tdp2 A G 13: 24,836,949 probably null Het
Tex10 T C 4: 48,456,740 Y657C possibly damaging Het
Other mutations in Xrcc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
Z1176:Xrcc4 UTSW 13 89941042 missense probably damaging 1.00
Posted On2013-11-05