Incidental Mutation 'R6026:Ercc3'
ID 480078
Institutional Source Beutler Lab
Gene Symbol Ercc3
Ensembl Gene ENSMUSG00000024382
Gene Name excision repair cross-complementing rodent repair deficiency, complementation group 3
Synonyms XPB
MMRRC Submission 044198-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6026 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 32373357-32403206 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 32378974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025241] [ENSMUST00000025241]
AlphaFold P49135
Predicted Effect probably null
Transcript: ENSMUST00000025241
SMART Domains Protein: ENSMUSP00000025241
Gene: ENSMUSG00000024382

DomainStartEndE-ValueType
low complexity region 3 28 N/A INTRINSIC
Pfam:Helicase_C_3 76 203 1.2e-46 PFAM
DEXDc 313 493 2.52e-18 SMART
HELICc 570 648 4.32e-8 SMART
low complexity region 707 716 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000025241
SMART Domains Protein: ENSMUSP00000025241
Gene: ENSMUSG00000024382

DomainStartEndE-ValueType
low complexity region 3 28 N/A INTRINSIC
Pfam:Helicase_C_3 76 203 1.2e-46 PFAM
DEXDc 313 493 2.52e-18 SMART
HELICc 570 648 4.32e-8 SMART
low complexity region 707 716 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142213
Meta Mutation Damage Score 0.9592 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 97% (73/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a frame shift mutation in exon 15 exhibit embryonic lethality prior to E8.5. Mice homozygous for a frame shift mutation following by a stop codon insertion in exon 15 exhibit increased sensitivity to ultraviolet- and gamma-irradiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik A G 11: 58,316,581 (GRCm39) D187G probably benign Het
4933421I07Rik A T 7: 42,095,708 (GRCm39) M180K probably benign Het
Aatk T C 11: 119,903,190 (GRCm39) H345R possibly damaging Het
Abcc8 T C 7: 45,816,424 (GRCm39) T239A probably benign Het
Abcf3 A G 16: 20,369,320 (GRCm39) E234G probably damaging Het
Actrt2 T C 4: 154,751,047 (GRCm39) D363G possibly damaging Het
Adam1a A T 5: 121,657,425 (GRCm39) C623S probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Barhl2 T A 5: 106,603,474 (GRCm39) K228N probably benign Het
Blvrb A G 7: 27,162,115 (GRCm39) H153R probably damaging Het
Capn9 A G 8: 125,332,601 (GRCm39) D480G probably damaging Het
Cct3 T C 3: 88,219,029 (GRCm39) I182T possibly damaging Het
Clasp2 A G 9: 113,740,646 (GRCm39) N1208D probably benign Het
Col26a1 A G 5: 136,876,354 (GRCm39) C89R probably damaging Het
Cops4 T A 5: 100,690,194 (GRCm39) probably benign Het
Cpox T A 16: 58,491,298 (GRCm39) W170R probably damaging Het
Ddx27 A G 2: 166,875,560 (GRCm39) K656E probably benign Het
Eif4e T C 3: 138,256,661 (GRCm39) I66T probably damaging Het
Esp38 G A 17: 40,266,032 (GRCm39) C47Y probably damaging Het
Fancd2 T C 6: 113,528,731 (GRCm39) V380A possibly damaging Het
Fbxw7 T A 3: 84,859,948 (GRCm39) probably null Het
Fryl T G 5: 73,257,340 (GRCm39) R736S probably benign Het
Gad2 G A 2: 22,513,748 (GRCm39) V62M probably benign Het
Gigyf2 A G 1: 87,368,454 (GRCm39) T1045A probably damaging Het
Gm13090 T A 4: 151,175,157 (GRCm39) L78* probably null Het
Gm19410 G A 8: 36,279,580 (GRCm39) S1815N probably benign Het
Gm28051 A T 12: 102,686,444 (GRCm39) L72Q unknown Het
Gm44511 T C 6: 128,797,240 (GRCm39) T83A possibly damaging Het
Grk2 C T 19: 4,340,811 (GRCm39) V246I probably damaging Het
Grm7 C T 6: 111,478,500 (GRCm39) Q62* probably null Het
Gsdmc3 T A 15: 63,738,600 (GRCm39) E154V probably damaging Het
Gstz1 A C 12: 87,206,948 (GRCm39) Q114P probably damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hhip A T 8: 80,699,069 (GRCm39) C666S probably damaging Het
Hif1a A C 12: 73,979,055 (GRCm39) H193P probably damaging Het
Hyal2 A G 9: 107,449,398 (GRCm39) T385A probably benign Het
Ihh T C 1: 74,985,886 (GRCm39) T200A probably benign Het
Iqgap3 T A 3: 87,997,478 (GRCm39) V218E probably damaging Het
Lct A G 1: 128,227,755 (GRCm39) I1246T probably benign Het
Lmo7 T C 14: 102,118,426 (GRCm39) V217A probably benign Het
Lrp1 C T 10: 127,409,272 (GRCm39) D1616N probably damaging Het
Lrrfip2 A T 9: 111,043,239 (GRCm39) T165S probably damaging Het
Morc2b A G 17: 33,356,957 (GRCm39) Y272H possibly damaging Het
Muc16 A G 9: 18,571,154 (GRCm39) M455T unknown Het
Ncapg2 A T 12: 116,406,641 (GRCm39) D939V possibly damaging Het
Ncbp3 T C 11: 72,958,548 (GRCm39) V236A probably benign Het
Obscn T A 11: 58,957,916 (GRCm39) T3595S probably damaging Het
Odf2l T C 3: 144,854,797 (GRCm39) S545P possibly damaging Het
Or3a1 T A 11: 74,225,914 (GRCm39) I48F probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pdzrn3 A C 6: 101,339,105 (GRCm39) C269G probably benign Het
Pear1 T A 3: 87,664,220 (GRCm39) N278Y probably damaging Het
Phb1 C T 11: 95,562,245 (GRCm39) R41* probably null Het
Pikfyve T C 1: 65,311,856 (GRCm39) V2031A probably damaging Het
Plxna2 A G 1: 194,482,122 (GRCm39) I1465V probably damaging Het
Ppp6r2 A G 15: 89,167,113 (GRCm39) N776S probably benign Het
Prkce A T 17: 86,800,658 (GRCm39) E358V probably benign Het
Prl5a1 A T 13: 28,335,247 (GRCm39) I219F probably benign Het
Prss3 T C 6: 41,354,488 (GRCm39) probably null Het
Ptprc A T 1: 137,998,987 (GRCm39) M858K probably damaging Het
Retreg3 T C 11: 100,997,226 (GRCm39) T85A probably damaging Het
Rfc2 T A 5: 134,624,185 (GRCm39) C265S probably damaging Het
Smarcd1 G T 15: 99,603,619 (GRCm39) V256L probably damaging Het
Stat5a T C 11: 100,771,142 (GRCm39) F574L probably damaging Het
Tcirg1 T C 19: 3,947,487 (GRCm39) H624R probably benign Het
Tcstv1a C A 13: 120,355,987 (GRCm39) probably benign Het
Tenm2 C T 11: 35,963,556 (GRCm39) probably null Het
Tomm40 A G 7: 19,444,889 (GRCm39) V164A probably benign Het
Txnl4a T C 18: 80,250,482 (GRCm39) V26A probably damaging Het
Ugt2a3 A T 5: 87,484,336 (GRCm39) F229L probably benign Het
Utp20 T C 10: 88,604,541 (GRCm39) T1785A probably benign Het
Vmn1r22 T A 6: 57,877,390 (GRCm39) I196L probably benign Het
Zfp652 T G 11: 95,640,788 (GRCm39) C238G possibly damaging Het
Other mutations in Ercc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Ercc3 APN 18 32,397,598 (GRCm39) splice site probably benign
IGL01108:Ercc3 APN 18 32,397,638 (GRCm39) missense probably damaging 0.99
IGL01131:Ercc3 APN 18 32,402,942 (GRCm39) makesense probably null
IGL01541:Ercc3 APN 18 32,381,372 (GRCm39) missense possibly damaging 0.87
IGL01959:Ercc3 APN 18 32,390,411 (GRCm39) missense probably damaging 1.00
IGL02862:Ercc3 APN 18 32,376,255 (GRCm39) critical splice donor site probably null
IGL03107:Ercc3 APN 18 32,381,360 (GRCm39) missense possibly damaging 0.95
IGL03334:Ercc3 APN 18 32,373,890 (GRCm39) critical splice donor site probably null
PIT4651001:Ercc3 UTSW 18 32,373,365 (GRCm39) unclassified probably benign
R0545:Ercc3 UTSW 18 32,378,955 (GRCm39) missense probably damaging 1.00
R0561:Ercc3 UTSW 18 32,378,592 (GRCm39) missense possibly damaging 0.85
R1159:Ercc3 UTSW 18 32,397,611 (GRCm39) missense possibly damaging 0.86
R1496:Ercc3 UTSW 18 32,394,350 (GRCm39) splice site probably benign
R1733:Ercc3 UTSW 18 32,400,218 (GRCm39) missense possibly damaging 0.60
R1943:Ercc3 UTSW 18 32,379,663 (GRCm39) missense probably damaging 1.00
R2013:Ercc3 UTSW 18 32,381,482 (GRCm39) missense probably benign
R2015:Ercc3 UTSW 18 32,381,482 (GRCm39) missense probably benign
R2303:Ercc3 UTSW 18 32,378,600 (GRCm39) missense probably benign 0.08
R4393:Ercc3 UTSW 18 32,398,674 (GRCm39) missense probably benign 0.00
R4600:Ercc3 UTSW 18 32,378,624 (GRCm39) missense probably benign 0.00
R4601:Ercc3 UTSW 18 32,378,624 (GRCm39) missense probably benign 0.00
R4602:Ercc3 UTSW 18 32,378,624 (GRCm39) missense probably benign 0.00
R4603:Ercc3 UTSW 18 32,378,624 (GRCm39) missense probably benign 0.00
R4796:Ercc3 UTSW 18 32,381,363 (GRCm39) missense probably damaging 1.00
R4957:Ercc3 UTSW 18 32,376,170 (GRCm39) missense probably damaging 1.00
R5253:Ercc3 UTSW 18 32,402,917 (GRCm39) missense probably damaging 0.97
R5265:Ercc3 UTSW 18 32,387,296 (GRCm39) missense probably damaging 0.99
R5342:Ercc3 UTSW 18 32,378,648 (GRCm39) missense probably benign 0.01
R5455:Ercc3 UTSW 18 32,400,262 (GRCm39) missense possibly damaging 0.89
R5639:Ercc3 UTSW 18 32,398,767 (GRCm39) missense probably damaging 0.99
R5702:Ercc3 UTSW 18 32,387,206 (GRCm39) missense probably damaging 0.99
R6053:Ercc3 UTSW 18 32,379,807 (GRCm39) missense probably damaging 1.00
R6650:Ercc3 UTSW 18 32,394,389 (GRCm39) missense probably damaging 1.00
R7150:Ercc3 UTSW 18 32,390,325 (GRCm39) missense probably damaging 1.00
R7783:Ercc3 UTSW 18 32,381,296 (GRCm39) missense probably damaging 1.00
R8331:Ercc3 UTSW 18 32,373,871 (GRCm39) missense probably damaging 0.97
R8905:Ercc3 UTSW 18 32,398,771 (GRCm39) missense possibly damaging 0.94
Z1177:Ercc3 UTSW 18 32,387,214 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGTGCAGAGTCTGGATTCC -3'
(R):5'- TCTGAACCAAAATGGATCCTATGGAG -3'

Sequencing Primer
(F):5'- TTTCTCTCACAGATTTCTAAGACGG -3'
(R):5'- ATCCTATGGAGAGCAGCTTCCTAG -3'
Posted On 2017-06-26