Incidental Mutation 'R9080:Xrcc4'
ID 689980
Institutional Source Beutler Lab
Gene Symbol Xrcc4
Ensembl Gene ENSMUSG00000021615
Gene Name X-ray repair complementing defective repair in Chinese hamster cells 4
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.508) question?
Stock # R9080 (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 C at 90000978 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 141 (N141S)
Ref Sequence ENSEMBL: ENSMUSP00000022115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022115] [ENSMUST00000159199]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000022115
AA Change: N141S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022115
Gene: ENSMUSG00000021615
AA Change: N141S

DomainStartEndE-ValueType
Pfam:XRCC4 1 326 1.5e-153 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159199
AA Change: N141S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123934
Gene: ENSMUSG00000021615
AA Change: N141S

DomainStartEndE-ValueType
Pfam:XRCC4 1 310 2.7e-151 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik T C 6: 52,178,993 I13T unknown Het
Adad1 G T 3: 37,065,249 V160L probably benign Het
Adamts6 T A 13: 104,312,919 M279K probably damaging Het
Adgra2 T C 8: 27,114,501 S535P probably benign Het
Akr1c13 C T 13: 4,191,173 probably benign Het
Anapc1 A G 2: 128,622,506 I1690T possibly damaging Het
Ccdc138 A G 10: 58,562,062 M575V probably damaging Het
Cfap100 T C 6: 90,406,201 N330S unknown Het
Col12a1 T C 9: 79,609,851 D2849G probably benign Het
Cox11 G A 11: 90,644,420 M232I probably damaging Het
Cpne7 C T 8: 123,130,212 P402L probably damaging Het
Cspp1 G A 1: 10,113,694 S848N probably benign Het
Cxcr5 A G 9: 44,513,266 S365P probably damaging Het
Dclre1c A T 2: 3,457,552 M389L probably benign Het
Dlc1 T C 8: 36,584,852 D124G probably benign Het
Dtx3 A T 10: 127,191,268 S346T possibly damaging Het
E330021D16Rik T A 6: 136,400,722 D370V probably damaging Het
Exosc10 A G 4: 148,564,664 D337G probably damaging Het
Fpr1 G A 17: 17,876,950 A259V probably benign Het
Gm11232 A T 4: 71,757,833 M25K probably benign Het
Gm4950 A G 18: 51,865,850 V11A possibly damaging Het
Gsap C T 5: 21,194,412 T37I possibly damaging Het
Igfbp2 T A 1: 72,851,998 C252S probably damaging Het
Ing2 T C 8: 47,668,773 T247A possibly damaging Het
Ints1 C T 5: 139,753,545 V2028M probably benign Het
Itfg1 A G 8: 85,740,245 F400L possibly damaging Het
Itga6 A G 2: 71,843,289 Y889C probably benign Het
Kcnh3 A G 15: 99,241,786 E882G probably damaging Het
Limch1 T A 5: 67,017,649 C515S probably benign Het
Lrrc74a G T 12: 86,749,134 V294F possibly damaging Het
Megf8 A G 7: 25,341,706 E1120G probably damaging Het
Nbea A T 3: 56,005,095 Y1090* probably null Het
Nckap1 A G 2: 80,520,382 Y794H probably damaging Het
Nfib T C 4: 82,705,517 M25V Het
Ogfod2 A G 5: 124,114,944 E339G probably damaging Het
Olah T A 2: 3,348,352 E64V probably damaging Het
Olfr237-ps1 T A 6: 43,153,896 V197D possibly damaging Het
Olfr460 T A 6: 40,571,629 L81H probably damaging Het
Pdcd6ip T A 9: 113,691,556 K120M probably damaging Het
Pex1 A G 5: 3,605,476 I134V probably damaging Het
Plekhm2 T C 4: 141,631,728 H576R probably damaging Het
Ptpn13 T A 5: 103,489,628 H127Q probably damaging Het
Rmnd5b C T 11: 51,624,228 probably null Het
Rsf1 A AAGGCGACGG 7: 97,579,904 probably null Het
Sec16b C A 1: 157,565,730 Q995K probably benign Het
Serpinb6d T A 13: 33,671,124 S260R probably benign Het
Slc47a1 C T 11: 61,373,393 G67S possibly damaging Het
Slco6d1 T C 1: 98,421,258 V18A probably benign Het
Tfcp2 GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA 15: 100,498,087 probably null Het
Tiam2 T G 17: 3,414,244 C83G probably benign Het
Tln2 C T 9: 67,346,561 G743R probably damaging Het
Tmem136 C T 9: 43,111,369 R230Q probably benign Het
Tnks CCCGCCGCCGCCGCCGCCGCCG CCCGCCGCCGCCGCCGCCG 8: 34,965,312 probably benign Het
Ttn G A 2: 76,706,499 T34994I probably benign Het
Uggt2 T A 14: 119,057,605 E536D probably benign Het
Usp54 T C 14: 20,562,240 E836G probably damaging Het
Vmn1r41 C T 6: 89,747,156 T63M unknown Het
Vmn2r72 A C 7: 85,738,256 I700S probably damaging Het
Zfp638 T C 6: 83,867,173 V6A unknown 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
R9535:Xrcc4 UTSW 13 89940999 missense probably benign 0.00
Z1176:Xrcc4 UTSW 13 89941042 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGGTTAATGCCCTCCTGC -3'
(R):5'- TGTTCCCTGCACTGTATATGG -3'

Sequencing Primer
(F):5'- AATGGTTAATGCCCTCCTGCAATAC -3'
(R):5'- CCCTGCACTGTATATGGTAAGTACAG -3'
Posted On 2021-11-19