Incidental Mutation 'R7317:Ercc4'
ID 563498
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 045369-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R7317 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 12927548-12968481 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12939977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 169 (V169A)
Ref Sequence ENSEMBL: ENSMUSP00000023206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023206] [ENSMUST00000129049] [ENSMUST00000141024]
AlphaFold Q9QZD4
Predicted Effect probably benign
Transcript: ENSMUST00000023206
AA Change: V169A

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000023206
Gene: ENSMUSG00000022545
AA Change: V169A

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
AA Change: V79A

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000141024
AA Change: V149A

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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 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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 G A 5: 8,140,202 (GRCm39) P832L probably benign Het
Adamts17 C T 7: 66,490,304 (GRCm39) R129* probably null Het
Alg5 G T 3: 54,656,752 (GRCm39) R321L probably benign Het
Amotl1 T A 9: 14,486,515 (GRCm39) T460S probably benign Het
Ankrd50 T C 3: 38,537,332 (GRCm39) E7G possibly damaging Het
Ap3b2 T C 7: 81,110,776 (GRCm39) T1000A unknown Het
Arap2 G A 5: 62,807,067 (GRCm39) T1200M probably damaging Het
Asb2 A T 12: 103,299,616 (GRCm39) I272N probably damaging Het
Bicd2 T C 13: 49,531,784 (GRCm39) L342P probably damaging Het
C1qtnf6 T A 15: 78,409,206 (GRCm39) I214F probably damaging Het
Cdc42bpg T A 19: 6,364,534 (GRCm39) H587Q probably benign Het
Cfap70 T A 14: 20,450,502 (GRCm39) I1010F possibly damaging Het
Chd1 A T 17: 15,962,536 (GRCm39) K764N possibly damaging Het
Cluh A G 11: 74,556,530 (GRCm39) D956G possibly damaging Het
Ehbp1l1 T C 19: 5,770,730 (GRCm39) D243G probably benign Het
Erich6 T C 3: 58,544,305 (GRCm39) E94G probably benign Het
Fubp3 A G 2: 31,494,624 (GRCm39) probably null Het
Gabbr1 C T 17: 37,380,305 (GRCm39) T736I probably damaging Het
Garre1 A G 7: 33,963,072 (GRCm39) V200A probably benign Het
Gm14496 T A 2: 181,637,613 (GRCm39) M229K possibly damaging Het
Gm4553 ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC 7: 141,719,157 (GRCm39) probably benign Het
Gspt1 T C 16: 11,040,521 (GRCm39) T596A probably benign Het
H1f4 A G 13: 23,806,350 (GRCm39) I44T probably damaging Het
Htr5b T A 1: 121,438,157 (GRCm39) Y358F probably damaging Het
Il18r1 A T 1: 40,513,992 (GRCm39) Y66F possibly damaging Het
Il18rap A G 1: 40,564,536 (GRCm39) T189A probably damaging Het
Irag2 G A 6: 145,104,424 (GRCm39) G164R possibly damaging Het
Itgav G T 2: 83,625,327 (GRCm39) A771S probably benign Het
Klf11 T C 12: 24,705,518 (GRCm39) V324A possibly damaging Het
Krtap15-1 T C 16: 88,626,193 (GRCm39) C87R probably benign Het
Mapk8ip3 C T 17: 25,120,692 (GRCm39) G807D probably benign Het
Mbd5 A G 2: 49,169,755 (GRCm39) D1642G probably benign Het
Med15 G T 16: 17,489,507 (GRCm39) Q356K unknown Het
Mmp3 A G 9: 7,446,937 (GRCm39) Y39C probably damaging Het
Mon2 A G 10: 122,849,851 (GRCm39) S1149P probably damaging Het
Msh3 A G 13: 92,422,512 (GRCm39) I548T probably damaging Het
Noc2l T A 4: 156,323,673 (GRCm39) V179E possibly damaging Het
Or4b1b A T 2: 90,112,748 (GRCm39) M57K probably damaging Het
Or5k3 T G 16: 58,969,684 (GRCm39) M157R possibly damaging Het
Or5p64 G T 7: 107,854,425 (GRCm39) Q307K probably benign Het
Oxa1l A T 14: 54,598,312 (GRCm39) M1L probably benign Het
Pcdhb10 A T 18: 37,546,079 (GRCm39) Q385L possibly damaging Het
Pdzd2 T C 15: 12,592,329 (GRCm39) K105R probably damaging Het
Pex1 A T 5: 3,668,875 (GRCm39) D582V probably damaging Het
Pheta1 A T 5: 121,991,336 (GRCm39) T233S possibly damaging Het
Pi4ka A G 16: 17,223,496 (GRCm39) probably null Het
Pigw T C 11: 84,768,066 (GRCm39) N421S probably benign Het
Plek T C 11: 16,944,739 (GRCm39) K97R probably benign Het
R3hcc1l C T 19: 42,571,979 (GRCm39) R753* probably null Het
R3hdml G A 2: 163,344,367 (GRCm39) W252* probably null Het
Septin12 T C 16: 4,809,599 (GRCm39) K238E probably damaging Het
Sgce G A 6: 4,691,615 (GRCm39) T320I probably benign Het
Sidt2 A T 9: 45,854,988 (GRCm39) C562* probably null Het
Skint8 T C 4: 111,796,717 (GRCm39) C274R possibly damaging Het
Slc13a5 A T 11: 72,135,953 (GRCm39) M529K probably damaging Het
Smg8 T G 11: 86,976,391 (GRCm39) S397R possibly damaging Het
Spock3 G T 8: 63,566,590 (GRCm39) R68L possibly damaging Het
Stau2 T A 1: 16,530,553 (GRCm39) H122L unknown Het
Tent5a G C 9: 85,206,670 (GRCm39) A376G possibly damaging Het
Tert G A 13: 73,790,495 (GRCm39) R858H probably damaging Het
Tgm3 G A 2: 129,890,211 (GRCm39) R658Q probably benign Het
Tmc4 A G 7: 3,672,918 (GRCm39) I455T probably benign Het
Tmtc4 G A 14: 123,215,593 (GRCm39) P18S probably benign Het
Tnc A G 4: 63,890,959 (GRCm39) I1641T probably damaging Het
Trav14-3 A T 14: 54,000,951 (GRCm39) N54I probably damaging Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Unc5c T A 3: 141,495,703 (GRCm39) M524K probably benign Het
Unc93a A G 17: 13,335,171 (GRCm39) F292L probably benign Het
Uso1 A G 5: 92,321,851 (GRCm39) N248S possibly damaging Het
Usp5 A G 6: 124,803,281 (GRCm39) L73P probably damaging Het
Utp20 T A 10: 88,598,797 (GRCm39) I60F possibly damaging Het
Vmn2r94 T A 17: 18,463,882 (GRCm39) I803F 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
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
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'- CTTGAATAGGAAATCACAAGGGTTCC -3'
(R):5'- ACACACTGTGTCATTCCATTCACTG -3'

Sequencing Primer
(F):5'- GGAAATCACAAGGGTTCCTATTG -3'
(R):5'- TCACTGTTGGCATCAGGAC -3'
Posted On 2019-06-26