Incidental Mutation 'IGL00781:Ercc4'
ID 13451
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ercc4
Ensembl Gene ENSMUSG00000022545
Gene Name excision repair cross-complementing rodent repair deficiency, complementation group 4
Synonyms Xpf
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # IGL00781
Quality Score
Status
Chromosome 16
Chromosomal Location 12927548-12968481 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12943233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 284 (V284A)
Ref Sequence ENSEMBL: ENSMUSP00000118553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023206] [ENSMUST00000129049] [ENSMUST00000141024]
AlphaFold Q9QZD4
Predicted Effect possibly damaging
Transcript: ENSMUST00000023206
AA Change: V304A

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023206
Gene: ENSMUSG00000022545
AA Change: V304A

DomainStartEndE-ValueType
Blast:DEXDc 8 187 1e-5 BLAST
ERCC4 684 764 1.11e-26 SMART
low complexity region 789 802 N/A INTRINSIC
PDB:2AQ0|B 835 917 6e-37 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000129049
AA Change: V214A

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138527
Predicted Effect possibly damaging
Transcript: ENSMUST00000141024
AA Change: V284A

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
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 forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous null mice show impaired growth and do not survive longer than several weeks of age. Cultutred cells obtained from mutant mice were shown to be hypersensitive to UV irradiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 A G 10: 106,801,887 (GRCm39) S489P probably benign Het
Adam8 A T 7: 139,567,158 (GRCm39) N431K probably damaging Het
Add1 A G 5: 34,770,702 (GRCm39) H271R probably damaging Het
Adgrv1 G A 13: 81,726,349 (GRCm39) L559F probably benign Het
Cdk17 A G 10: 93,068,278 (GRCm39) Y312C probably damaging Het
Cemip A G 7: 83,596,488 (GRCm39) I1092T possibly damaging Het
Col20a1 G T 2: 180,645,272 (GRCm39) V885F possibly damaging Het
Dcc A G 18: 71,942,266 (GRCm39) S284P probably benign Het
Fam184b A T 5: 45,712,534 (GRCm39) probably null Het
Fbln7 G A 2: 128,735,771 (GRCm39) R253Q possibly damaging Het
Gfm2 T C 13: 97,285,847 (GRCm39) F112S probably damaging Het
Gxylt1 C T 15: 93,152,273 (GRCm39) R222H probably damaging Het
Madd T C 2: 90,977,273 (GRCm39) I1385V probably benign Het
Pkn3 C A 2: 29,973,402 (GRCm39) probably benign Het
Sppl2a T A 2: 126,761,640 (GRCm39) N288I probably benign Het
St14 A G 9: 31,015,075 (GRCm39) S308P probably damaging Het
Syne2 C A 12: 76,070,836 (GRCm39) P4430T probably benign Het
Taf6l C T 19: 8,751,025 (GRCm39) G43D probably damaging Het
Trim11 T C 11: 58,881,523 (GRCm39) L472P probably benign Het
Usp2 C T 9: 44,000,462 (GRCm39) R284* probably null Het
Other mutations in Ercc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00805:Ercc4 APN 16 12,939,868 (GRCm39) missense possibly damaging 0.77
IGL01348:Ercc4 APN 16 12,950,798 (GRCm39) missense probably damaging 1.00
IGL02406:Ercc4 APN 16 12,941,400 (GRCm39) missense probably damaging 1.00
IGL03248:Ercc4 APN 16 12,945,457 (GRCm39) missense probably damaging 1.00
Rapscallion UTSW 16 12,944,331 (GRCm39) missense probably benign
Rascal UTSW 16 12,950,811 (GRCm39) missense probably damaging 1.00
PIT4812001:Ercc4 UTSW 16 12,962,311 (GRCm39) missense probably benign 0.29
R0212:Ercc4 UTSW 16 12,941,196 (GRCm39) critical splice acceptor site probably null
R0505:Ercc4 UTSW 16 12,944,331 (GRCm39) missense probably benign
R0962:Ercc4 UTSW 16 12,948,010 (GRCm39) missense probably damaging 0.99
R1078:Ercc4 UTSW 16 12,948,061 (GRCm39) missense probably benign 0.00
R1356:Ercc4 UTSW 16 12,943,146 (GRCm39) missense probably damaging 0.99
R1420:Ercc4 UTSW 16 12,948,073 (GRCm39) missense probably benign 0.01
R1554:Ercc4 UTSW 16 12,965,486 (GRCm39) missense probably damaging 1.00
R1899:Ercc4 UTSW 16 12,965,651 (GRCm39) missense probably damaging 1.00
R2128:Ercc4 UTSW 16 12,965,798 (GRCm39) missense probably damaging 0.99
R2214:Ercc4 UTSW 16 12,927,888 (GRCm39) missense probably damaging 1.00
R3757:Ercc4 UTSW 16 12,962,360 (GRCm39) missense probably benign 0.28
R4072:Ercc4 UTSW 16 12,948,549 (GRCm39) missense probably damaging 1.00
R4073:Ercc4 UTSW 16 12,948,549 (GRCm39) missense probably damaging 1.00
R4075:Ercc4 UTSW 16 12,948,549 (GRCm39) missense probably damaging 1.00
R4076:Ercc4 UTSW 16 12,948,549 (GRCm39) missense probably damaging 1.00
R4646:Ercc4 UTSW 16 12,965,438 (GRCm39) missense probably damaging 1.00
R4731:Ercc4 UTSW 16 12,965,471 (GRCm39) missense probably damaging 1.00
R4756:Ercc4 UTSW 16 12,941,287 (GRCm39) missense probably damaging 1.00
R4767:Ercc4 UTSW 16 12,939,959 (GRCm39) missense probably damaging 1.00
R5011:Ercc4 UTSW 16 12,941,445 (GRCm39) intron probably benign
R5013:Ercc4 UTSW 16 12,941,445 (GRCm39) intron probably benign
R5301:Ercc4 UTSW 16 12,948,550 (GRCm39) missense probably damaging 1.00
R5308:Ercc4 UTSW 16 12,948,028 (GRCm39) missense probably damaging 1.00
R5684:Ercc4 UTSW 16 12,948,465 (GRCm39) missense probably benign 0.35
R6083:Ercc4 UTSW 16 12,927,903 (GRCm39) nonsense probably null
R6092:Ercc4 UTSW 16 12,943,125 (GRCm39) missense probably benign 0.04
R6815:Ercc4 UTSW 16 12,941,299 (GRCm39) missense probably damaging 0.99
R6953:Ercc4 UTSW 16 12,948,550 (GRCm39) missense probably damaging 1.00
R7062:Ercc4 UTSW 16 12,950,811 (GRCm39) missense probably damaging 1.00
R7199:Ercc4 UTSW 16 12,965,657 (GRCm39) missense probably damaging 1.00
R7317:Ercc4 UTSW 16 12,939,977 (GRCm39) missense probably benign 0.12
R7858:Ercc4 UTSW 16 12,943,169 (GRCm39) missense probably damaging 0.98
R7948:Ercc4 UTSW 16 12,948,049 (GRCm39) missense probably benign 0.00
R8245:Ercc4 UTSW 16 12,948,001 (GRCm39) missense probably benign 0.00
R8408:Ercc4 UTSW 16 12,948,001 (GRCm39) missense probably benign 0.00
R8409:Ercc4 UTSW 16 12,948,001 (GRCm39) missense probably benign 0.00
R9173:Ercc4 UTSW 16 12,939,973 (GRCm39) missense possibly damaging 0.82
R9445:Ercc4 UTSW 16 12,945,474 (GRCm39) missense probably benign
R9696:Ercc4 UTSW 16 12,950,810 (GRCm39) missense probably damaging 1.00
RF007:Ercc4 UTSW 16 12,941,371 (GRCm39) missense possibly damaging 0.67
Posted On 2012-12-06