Incidental Mutation 'R5011:Ercc4'
ID 390542
Institutional Source Beutler Lab
Gene Symbol Ercc4
Ensembl Gene ENSMUSG00000022545
Gene Name excision repair cross-complementing rodent repair deficiency, complementation group 4
Synonyms Xpf
MMRRC Submission 042602-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R5011 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 12927548-12968481 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 12941445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023206] [ENSMUST00000129049] [ENSMUST00000141024]
AlphaFold Q9QZD4
Predicted Effect probably benign
Transcript: ENSMUST00000023206
SMART Domains Protein: ENSMUSP00000023206
Gene: ENSMUSG00000022545

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: ENSMUST00000138527
Predicted Effect probably benign
Transcript: ENSMUST00000141024
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (104/104)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810010H24Rik T C 11: 106,919,324 (GRCm39) V223A probably damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Ahctf1 A T 1: 179,611,675 (GRCm39) I565N possibly damaging Het
Ank1 C T 8: 23,572,300 (GRCm39) T70I probably damaging Het
Atg16l1 C A 1: 87,701,902 (GRCm39) S248* probably null Het
Atp13a5 A T 16: 29,169,566 (GRCm39) L42Q probably damaging Het
Atxn1 T C 13: 45,710,545 (GRCm39) N796D probably damaging Het
C3 T A 17: 57,530,236 (GRCm39) Y455F probably benign Het
Card11 A T 5: 140,862,275 (GRCm39) D1007E possibly damaging Het
Cbr2 T C 11: 120,621,697 (GRCm39) D60G possibly damaging Het
Cgn T A 3: 94,683,455 (GRCm39) E400V probably null Het
Chil3 T A 3: 106,057,477 (GRCm39) Y229F possibly damaging Het
Clcn2 G A 16: 20,525,965 (GRCm39) P785S probably damaging Het
Clk1 T C 1: 58,453,642 (GRCm39) I315V probably benign Het
Cops6 A G 5: 138,160,459 (GRCm39) D102G probably benign Het
Dennd5a A G 7: 109,513,983 (GRCm39) I743T possibly damaging Het
Dnaaf5 T A 5: 139,149,012 (GRCm39) L437Q probably damaging Het
Dnah12 T A 14: 26,431,326 (GRCm39) D381E probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Draxin C A 4: 148,192,436 (GRCm39) R292L probably damaging Het
Dst T C 1: 34,289,728 (GRCm39) V5776A probably damaging Het
Eddm13 G A 7: 6,269,332 (GRCm39) probably benign Het
Eya1 T A 1: 14,254,582 (GRCm39) N417Y probably damaging Het
Fam149b T A 14: 20,413,439 (GRCm39) H219Q possibly damaging Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Fat1 A T 8: 45,484,300 (GRCm39) probably null Het
Fbxl18 A G 5: 142,872,435 (GRCm39) S267P probably damaging Het
Fer1l4 T C 2: 155,873,135 (GRCm39) Y1315C probably damaging Het
Fgd2 T C 17: 29,593,954 (GRCm39) probably null Het
Gm7251 T A 13: 49,958,656 (GRCm39) noncoding transcript Het
Golt1a T C 1: 133,248,006 (GRCm39) V78A probably damaging Het
Gsn T A 2: 35,188,933 (GRCm39) Y440N probably damaging Het
Gtf2ird2 G T 5: 134,245,824 (GRCm39) S694I possibly damaging Het
H2-Ob T A 17: 34,460,253 (GRCm39) probably null Het
Hsp90b1 T C 10: 86,532,617 (GRCm39) D353G probably benign Het
Ilk A G 7: 105,391,456 (GRCm39) D374G probably damaging Het
Invs G A 4: 48,421,807 (GRCm39) R813Q probably damaging Het
Itga7 G A 10: 128,785,316 (GRCm39) V836M possibly damaging Het
Itln1 T A 1: 171,360,958 (GRCm39) K45* probably null Het
Ivd A G 2: 118,710,946 (GRCm39) Y385C probably damaging Het
Ivns1abp T A 1: 151,238,953 (GRCm39) M589K possibly damaging Het
Jakmip3 C T 7: 138,621,951 (GRCm39) R284W probably damaging Het
Kank3 T C 17: 34,041,044 (GRCm39) L512P probably damaging Het
Kcnn2 T A 18: 45,818,352 (GRCm39) I483N possibly damaging Het
Klk1b4 A G 7: 43,860,492 (GRCm39) N170S probably benign Het
Klk1b9 A C 7: 43,445,419 (GRCm39) D203A probably damaging Het
Lbr A T 1: 181,647,453 (GRCm39) Y199* probably null Het
Lcn6 T A 2: 25,567,082 (GRCm39) probably null Het
Lrriq1 T C 10: 103,025,784 (GRCm39) D946G probably damaging Het
Ltbp1 T A 17: 75,373,152 (GRCm39) L265H probably damaging Het
Maml3 A T 3: 51,598,196 (GRCm39) N183K possibly damaging Het
Mprip T C 11: 59,650,721 (GRCm39) V1475A possibly damaging Het
Myh4 C A 11: 67,147,189 (GRCm39) S1611R probably benign Het
Nagpa A T 16: 5,013,743 (GRCm39) M365K probably benign Het
Nckap5l G T 15: 99,324,457 (GRCm39) P682Q probably benign Het
Nudt12 T C 17: 59,303,499 (GRCm39) probably benign Het
Nup153 T C 13: 46,840,879 (GRCm39) T910A possibly damaging Het
Or1e31 T A 11: 73,690,473 (GRCm39) T37S possibly damaging Het
Or5ae2 T C 7: 84,505,646 (GRCm39) V23A probably damaging Het
Or7c74 A G 2: 37,160,937 (GRCm39) noncoding transcript Het
Or8k53 A T 2: 86,177,647 (GRCm39) F154L probably benign Het
Pate14 T C 9: 36,549,120 (GRCm39) N47D probably benign Het
Pbx2 T A 17: 34,813,673 (GRCm39) C224* probably null Het
Pcdha6 A G 18: 37,100,960 (GRCm39) D51G probably damaging Het
Pnpla1 C T 17: 29,104,558 (GRCm39) T538I possibly damaging Het
Pnpla2 T C 7: 141,039,204 (GRCm39) probably null Het
Psme2b C T 11: 48,836,654 (GRCm39) E98K probably benign Het
Ranbp2 T A 10: 58,297,717 (GRCm39) S375T probably benign Het
Rimbp2 T C 5: 128,880,985 (GRCm39) Y134C probably damaging Het
Ryr1 G A 7: 28,802,234 (GRCm39) probably null Het
Sh3tc1 G T 5: 35,857,633 (GRCm39) A1185D probably damaging Het
Sin3b G A 8: 73,471,184 (GRCm39) S377N probably benign Het
Slc28a2 T C 2: 122,288,371 (GRCm39) M554T possibly damaging Het
Snhg11 T C 2: 158,218,872 (GRCm39) probably benign Het
Spink5 A T 18: 44,139,479 (GRCm39) N614I probably damaging Het
Tert T C 13: 73,794,428 (GRCm39) probably null Het
Thap4 T C 1: 93,677,598 (GRCm39) Y396C probably damaging Het
Tle2 T C 10: 81,420,531 (GRCm39) L348P probably damaging Het
Tmem104 T C 11: 115,134,312 (GRCm39) S283P probably damaging Het
Tnn T C 1: 159,953,949 (GRCm39) E602G possibly damaging Het
Tpm4 A G 8: 72,900,938 (GRCm39) K190R probably benign Het
Ttf2 T C 3: 100,870,485 (GRCm39) E196G probably benign Het
Ugt3a1 T C 15: 9,365,373 (GRCm39) W329R probably damaging Het
Unc13a G A 8: 72,094,121 (GRCm39) Q1327* probably null Het
Vmn1r194 C T 13: 22,429,058 (GRCm39) T225I probably benign Het
Vmn1r215 T C 13: 23,260,721 (GRCm39) S254P probably damaging Het
Vmn2r109 T C 17: 20,775,451 (GRCm39) E92G probably damaging Het
Ythdc2 A G 18: 44,987,809 (GRCm39) M625V probably benign Het
Zfp106 A G 2: 120,341,015 (GRCm39) W1832R probably damaging Het
Zfp189 G A 4: 49,530,438 (GRCm39) G514S probably damaging Het
Zfp768 T C 7: 126,942,875 (GRCm39) R418G probably damaging Het
Zmynd11 C T 13: 9,739,479 (GRCm39) 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
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
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'- GCCATGCTTGCCATTCAGAC -3'
(R):5'- CAAATAACCAGATACTGCCAGTTTG -3'

Sequencing Primer
(F):5'- GACGGCCATACTAGACATCTTAAATG -3'
(R):5'- CCAGATACTGCCAGTTTGGAACATTG -3'
Posted On 2016-06-06