Incidental Mutation 'R3757:Ercc4'
ID 271498
Institutional Source Beutler Lab
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 # R3757 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 12927548-12968481 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 12962360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 668 (T668M)
Ref Sequence ENSEMBL: ENSMUSP00000023206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023206] [ENSMUST00000129049]
AlphaFold Q9QZD4
Predicted Effect probably benign
Transcript: ENSMUST00000023206
AA Change: T668M

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000023206
Gene: ENSMUSG00000022545
AA Change: T668M

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 probably benign
Transcript: ENSMUST00000129049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156393
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 92% (35/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 T A 7: 81,986,415 (GRCm39) I9K probably benign Het
Arhgap31 T C 16: 38,457,362 (GRCm39) E82G probably damaging Het
Asap2 T A 12: 21,317,767 (GRCm39) S993T probably damaging Het
Bmpr1a A T 14: 34,156,624 (GRCm39) L134* probably null Het
Cacna1e A G 1: 154,509,442 (GRCm39) V271A probably damaging Het
Cacna2d4 A G 6: 119,218,124 (GRCm39) E153G probably damaging Het
Cage1 A C 13: 38,209,705 (GRCm39) F91V possibly damaging Het
Cdh24 T C 14: 54,869,637 (GRCm39) D760G possibly damaging Het
Col9a1 T C 1: 24,271,312 (GRCm39) probably null Het
Cts6 A T 13: 61,349,972 (GRCm39) Y36* probably null Het
Dennd3 C G 15: 73,394,083 (GRCm39) A36G probably benign Het
Dmxl1 G A 18: 50,068,384 (GRCm39) G2719D probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Ep300 T A 15: 81,532,790 (GRCm39) V1676E unknown Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gm10985 GCTCTCTCTCTCTCTCTCTCTCTCTCTCT GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT 3: 53,752,645 (GRCm39) probably null Het
H1f4 T A 13: 23,806,240 (GRCm39) K81* probably null Het
Havcr1 G T 11: 46,643,407 (GRCm39) R109L probably damaging Het
Krtap4-9 A G 11: 99,676,444 (GRCm39) probably benign Het
Layn T C 9: 50,970,856 (GRCm39) E229G probably benign Het
Lpcat3 T A 6: 124,676,955 (GRCm39) probably null Het
Lrrn1 T A 6: 107,546,169 (GRCm39) F656I possibly damaging Het
Lypd1 A G 1: 125,838,121 (GRCm39) probably benign Het
Or4k41 T A 2: 111,279,602 (GRCm39) V39E possibly damaging Het
Or5v1b T A 17: 37,841,246 (GRCm39) I126N probably damaging Het
Or6c207 T C 10: 129,104,934 (GRCm39) D86G probably damaging Het
Ptprt A T 2: 161,653,950 (GRCm39) L560Q probably damaging Het
Rbm11 T C 16: 75,393,469 (GRCm39) V55A probably damaging Het
Scn11a C T 9: 119,632,569 (GRCm39) V434I probably benign Het
Serpinc1 A G 1: 160,829,935 (GRCm39) T434A probably benign Het
Setd2 T C 9: 110,402,753 (GRCm39) I1798T probably damaging Het
Sfswap A G 5: 129,590,298 (GRCm39) Y265C probably damaging Het
Slc9a8 C A 2: 167,266,050 (GRCm39) T9K probably benign Het
Synpo T C 18: 60,736,062 (GRCm39) D389G probably damaging Het
Vmn1r181 C T 7: 23,683,909 (GRCm39) L125F possibly damaging Het
Wdfy4 A C 14: 32,745,331 (GRCm39) H2296Q probably benign Het
Other mutations in Ercc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:Ercc4 APN 16 12,943,233 (GRCm39) missense possibly damaging 0.91
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
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
Predicted Primers PCR Primer
(F):5'- ACCCTCCAGTCATGTATCAGAG -3'
(R):5'- CCTTGCCTGATTCATGGTTTTAAGAG -3'

Sequencing Primer
(F):5'- GTCATGTATCAGAGACAATCCTCCTG -3'
(R):5'- TCTACATAGTGAGTTCCCGGATAGC -3'
Posted On 2015-03-18