Incidental Mutation 'PIT4651001:Ercc3'
ID 556707
Institutional Source Beutler Lab
Gene Symbol Ercc3
Ensembl Gene ENSMUSG00000024382
Gene Name excision repair cross-complementing rodent repair deficiency, complementation group 3
Synonyms XPB
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # PIT4651001 (G1)
Quality Score 176.009
Status Not validated
Chromosome 18
Chromosomal Location 32373357-32403206 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 32373365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000094326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025241] [ENSMUST00000096575]
AlphaFold P49135
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000096575
SMART Domains Protein: ENSMUSP00000094326
Gene: ENSMUSG00000024383

DomainStartEndE-ValueType
PB1 43 122 6.96e-20 SMART
low complexity region 203 219 N/A INTRINSIC
low complexity region 300 315 N/A INTRINSIC
low complexity region 322 334 N/A INTRINSIC
S_TKc 356 616 2.86e-92 SMART
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.7%
  • 10x: 84.4%
  • 20x: 70.4%
Validation Efficiency
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
2210408I21Rik A T 13: 77,408,014 (GRCm39) I428L probably benign Het
Aass T C 6: 23,118,750 (GRCm39) I131V probably benign Het
Alcam T A 16: 52,115,550 (GRCm39) K189N probably benign Het
Ankrd50 C A 3: 38,509,959 (GRCm39) E803* probably null Het
Ankrd53 A G 6: 83,742,715 (GRCm39) D236G probably damaging Het
Bard1 A G 1: 71,114,087 (GRCm39) V298A probably benign Het
Cacna1d C T 14: 29,900,602 (GRCm39) G361D probably damaging Het
Camkk1 A G 11: 72,916,647 (GRCm39) S82G probably benign Het
Ccr4 A T 9: 114,321,261 (GRCm39) V268E probably benign Het
Cdh6 G A 15: 13,044,805 (GRCm39) S439L possibly damaging Het
Ces1e G T 8: 93,941,711 (GRCm39) A254E probably benign Het
Cfap46 T C 7: 139,225,467 (GRCm39) T1078A Het
Cyp46a1 A G 12: 108,319,367 (GRCm39) D288G probably benign Het
Dnah6 T C 6: 73,037,243 (GRCm39) N3333S probably benign Het
Dzip3 A G 16: 48,765,241 (GRCm39) V491A probably benign Het
Egr1 G T 18: 34,996,240 (GRCm39) E341* probably null Het
Enpp1 G A 10: 24,529,848 (GRCm39) P597S probably benign Het
Fbn1 T C 2: 125,205,909 (GRCm39) probably null Het
Fbxw11 T C 11: 32,661,999 (GRCm39) probably null Het
Fhip1a C T 3: 85,590,948 (GRCm39) A389T probably damaging Het
Gbf1 A G 19: 46,151,982 (GRCm39) N5S probably benign Het
Gbp4 T A 5: 105,266,289 (GRCm39) H584L probably benign Het
Gcgr G T 11: 120,428,968 (GRCm39) C402F probably damaging Het
Grm7 T A 6: 110,623,050 (GRCm39) N74K probably benign Het
H1f9 A G 11: 94,859,142 (GRCm39) S146G probably benign Het
Hoxa10 T G 6: 52,211,877 (GRCm39) N13T possibly damaging Het
Ice1 A T 13: 70,772,040 (GRCm39) probably null Het
Il22 C A 10: 118,041,495 (GRCm39) N69K probably damaging Het
Il9r A T 11: 32,141,798 (GRCm39) H319Q probably benign Het
Itgax A G 7: 127,748,282 (GRCm39) T1104A probably benign Het
Jag1 C T 2: 136,943,617 (GRCm39) G193D probably damaging Het
Krt13 T A 11: 100,010,862 (GRCm39) D164V probably damaging Het
Lepr T C 4: 101,649,194 (GRCm39) M865T probably damaging Het
Lmf2 G A 15: 89,236,272 (GRCm39) H576Y possibly damaging Het
Lrrc8c C T 5: 105,756,189 (GRCm39) H655Y probably benign Het
Mapk6 A T 9: 75,304,869 (GRCm39) S183T possibly damaging Het
Mcrs1 A T 15: 99,144,832 (GRCm39) Y261N probably damaging Het
Mon1b G A 8: 114,365,254 (GRCm39) G194D probably benign Het
Myo18b C T 5: 112,982,301 (GRCm39) R1144Q probably benign Het
Myo9b T A 8: 71,795,456 (GRCm39) H808Q possibly damaging Het
Ngdn T C 14: 55,253,657 (GRCm39) I15T probably benign Het
Nhsl1 T G 10: 18,284,183 (GRCm39) S41R probably damaging Het
Numa1 A T 7: 101,663,141 (GRCm39) K2089M probably damaging Het
Obi1 T A 14: 104,743,692 (GRCm39) D129V probably damaging Het
Obscn A G 11: 58,932,507 (GRCm39) L4900P probably damaging Het
Olfm4 T A 14: 80,258,925 (GRCm39) L391Q probably benign Het
Or10g9b A T 9: 39,917,526 (GRCm39) C240S probably damaging Het
Or2ag1 A G 7: 106,472,730 (GRCm39) C241R probably damaging Het
Or5b106 T A 19: 13,123,991 (GRCm39) I11F probably benign Het
Or5b111 A G 19: 13,291,556 (GRCm39) I31T probably benign Het
Or5m9 T C 2: 85,876,862 (GRCm39) L12P probably damaging Het
Parn T A 16: 13,449,431 (GRCm39) N302Y probably benign Het
Pi4k2b T G 5: 52,905,812 (GRCm39) S118A possibly damaging Het
Piwil4 C T 9: 14,620,195 (GRCm39) V704I possibly damaging Het
Pm20d2 G A 4: 33,181,715 (GRCm39) T296M probably damaging Het
Pmpcb C T 5: 21,951,048 (GRCm39) A270V probably benign Het
Pnpt1 T C 11: 29,106,945 (GRCm39) probably null Het
Prkn T A 17: 11,286,130 (GRCm39) L41Q probably damaging Het
Rc3h1 C A 1: 160,791,110 (GRCm39) N931K probably benign Het
Rlf A G 4: 121,007,510 (GRCm39) V600A probably damaging Het
Rpl27rt A T 18: 34,870,892 (GRCm39) Q142L unknown Het
Sall1 T G 8: 89,757,731 (GRCm39) Q791P probably damaging Het
Sema3c T A 5: 17,899,731 (GRCm39) Y408N probably benign Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Tmem181a A T 17: 6,351,170 (GRCm39) M319L probably benign Het
Trim24 T C 6: 37,877,667 (GRCm39) probably null Het
Ttn T A 2: 76,719,278 (GRCm39) T7234S unknown Het
Unc13c T A 9: 73,391,021 (GRCm39) M2076L possibly damaging Het
Uroc1 C T 6: 90,340,095 (GRCm39) R667* probably null Het
Uvrag A G 7: 98,555,727 (GRCm39) F456L probably benign Het
Vmn1r215 T C 13: 23,260,530 (GRCm39) V190A probably damaging Het
Vmn2r50 T A 7: 9,771,659 (GRCm39) T681S probably benign Het
Vmn2r65 T A 7: 84,595,461 (GRCm39) T408S probably benign Het
Vps33b A G 7: 79,939,755 (GRCm39) D502G probably 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
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
R6026:Ercc3 UTSW 18 32,378,974 (GRCm39) critical splice donor site probably null
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'- CCCGATCTATAGGGCAAATAAGC -3'
(R):5'- GGAGACTTCTGGCAAGAACTCC -3'

Sequencing Primer
(F):5'- GCTCAAGGCTCCTAGAAGTACG -3'
(R):5'- ACCCGGCTAAGTTCCGCATC -3'
Posted On 2019-06-07