Incidental Mutation 'R4556:Xrcc4'
ID 341880
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 041597-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.429) question?
Stock # R4556 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 89774027-90089608 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89992504 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 195 (H195Q)
Ref Sequence ENSEMBL: ENSMUSP00000123934 (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: H195Q

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000022115
Gene: ENSMUSG00000021615
AA Change: H195Q

Pfam:XRCC4 1 326 1.5e-153 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159199
AA Change: H195Q

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000123934
Gene: ENSMUSG00000021615
AA Change: H195Q

Pfam:XRCC4 1 310 2.7e-151 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830005F24Rik T C 13: 48,514,461 probably benign Het
Adamts16 G A 13: 70,779,518 probably benign Het
Adamts17 A T 7: 67,027,893 E518D probably damaging Het
Cdk5rap2 A G 4: 70,239,312 S1601P probably damaging Het
Erc2 A C 14: 28,302,904 D580A probably damaging Het
Fbxo4 A G 15: 3,965,705 *386R probably null Het
Fbxo42 T A 4: 141,199,010 H334Q probably damaging Het
Gdf5 A G 2: 155,941,862 R24G probably benign Het
Lama3 G T 18: 12,479,759 R1200L possibly damaging Het
Lxn T A 3: 67,458,620 I182F possibly damaging Het
Mbd5 G A 2: 49,279,394 G1526R probably damaging Het
Mcub G A 3: 129,915,735 Q310* probably null Het
Ndufaf7 T C 17: 78,942,087 S138P probably benign Het
Nktr A G 9: 121,741,123 T90A probably damaging Het
Nr1h5 G A 3: 102,946,141 A350V probably benign Het
Olfr389 G A 11: 73,776,481 T282I possibly damaging Het
Olfr868 T C 9: 20,101,323 L188P possibly damaging Het
Pros1 A G 16: 62,900,673 K197R possibly damaging Het
Rmnd5b G T 11: 51,626,905 probably null Het
Rnf25 A T 1: 74,599,105 I26N probably damaging Het
Scn4a T C 11: 106,320,446 I1582V probably benign Het
Sh2d3c A G 2: 32,753,009 T583A possibly damaging Het
Sh3tc1 T C 5: 35,707,082 Y587C probably damaging Het
Slc6a11 A G 6: 114,244,812 S488G probably benign Het
Smim22 T A 16: 5,007,866 F38L possibly damaging Het
Stab2 T G 10: 86,967,679 E335D possibly damaging Het
Tas2r102 T C 6: 132,762,915 F262S probably damaging Het
Thap12 A G 7: 98,715,845 N407D probably benign Het
Tmem225 T C 9: 40,149,466 F107S probably damaging Het
Vmn1r229 T A 17: 20,814,691 V66E possibly damaging Het
Vmn1r27 A G 6: 58,215,819 S67P 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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-09-24