Incidental Mutation 'IGL01486:Xrcc4'
ID 88751
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.508) question?
Stock # IGL01486
Quality Score
Chromosome 13
Chromosomal Location 89774027-90089608 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 90062032 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 98 (E98*)
Ref Sequence ENSEMBL: ENSMUSP00000123934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022115] [ENSMUST00000159199] [ENSMUST00000160232] [ENSMUST00000161396]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000022115
AA Change: E98*
SMART Domains Protein: ENSMUSP00000022115
Gene: ENSMUSG00000021615
AA Change: E98*

Pfam:XRCC4 1 326 1.5e-153 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000159199
AA Change: E98*
SMART Domains Protein: ENSMUSP00000123934
Gene: ENSMUSG00000021615
AA Change: E98*

Pfam:XRCC4 1 310 2.7e-151 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160232
SMART Domains Protein: ENSMUSP00000125486
Gene: ENSMUSG00000021615

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alx3 G T 3: 107,604,823 C259F probably damaging Het
Ampd3 G T 7: 110,809,916 probably benign Het
Atm T C 9: 53,510,213 I733V probably benign Het
Chrd A G 16: 20,734,140 probably null Het
Ckm G A 7: 19,421,231 G262S probably damaging Het
D1Ertd622e A T 1: 97,646,006 S111R probably damaging Het
Fbn1 A G 2: 125,389,978 V412A probably benign Het
Fbxw22 G T 9: 109,378,873 S443R probably damaging Het
Hdgfl2 G T 17: 56,098,733 A481S possibly damaging Het
Hmcn2 G A 2: 31,336,621 V203M probably damaging Het
Kdelr3 T A 15: 79,522,847 V43D probably damaging Het
Klk8 A G 7: 43,803,689 K235E probably benign Het
Mapk1 A T 16: 17,018,280 probably benign Het
Nfic T C 10: 81,407,644 probably null Het
Pkd1l2 T C 8: 117,059,592 T625A probably benign Het
Psd2 A G 18: 35,980,335 S287G probably benign Het
Smap2 A T 4: 120,973,198 F247I probably damaging Het
Spata4 T C 8: 54,602,306 probably benign Het
Tff2 T G 17: 31,142,342 E79A probably benign Het
Thsd7a C T 6: 12,471,080 C513Y probably damaging Het
Tshz1 A G 18: 84,013,509 S925P possibly damaging Het
Ypel3 A G 7: 126,777,861 T38A probably damaging Het
Zfhx2 C T 14: 55,067,090 G1146R probably damaging Het
Zfp446 T A 7: 12,979,380 probably null Het
Other mutations in Xrcc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01376:Xrcc4 APN 13 90062050 missense probably benign 0.00
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
R9535:Xrcc4 UTSW 13 89940999 missense probably benign 0.00
Z1176:Xrcc4 UTSW 13 89941042 missense probably damaging 1.00
Posted On 2013-11-18