Incidental Mutation 'R1943:Ercc3'
ID 216408
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 039961-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1943 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 32373357-32403206 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32379663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 290 (Y290C)
Ref Sequence ENSEMBL: ENSMUSP00000025241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025241]
AlphaFold P49135
Predicted Effect probably damaging
Transcript: ENSMUST00000025241
AA Change: Y290C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025241
Gene: ENSMUSG00000024382
AA Change: Y290C

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,645,506 (GRCm39) N1017S possibly damaging Het
Abca8a T C 11: 109,960,689 (GRCm39) I610V probably benign Het
Acp5 C T 9: 22,040,900 (GRCm39) V108M probably damaging Het
Adam23 T C 1: 63,516,916 (GRCm39) probably null Het
Adam34 T A 8: 44,103,864 (GRCm39) T594S possibly damaging Het
Adam34 A T 8: 44,104,852 (GRCm39) N264K probably damaging Het
Arsa G A 15: 89,357,742 (GRCm39) T407I probably damaging Het
Bicc1 A G 10: 70,995,353 (GRCm39) S32P probably damaging Het
Cacna1i T A 15: 80,279,245 (GRCm39) D1995E probably benign Het
Cemip2 G A 19: 21,825,404 (GRCm39) probably null Het
Chst15 A T 7: 131,864,579 (GRCm39) probably null Het
Cntnap4 T A 8: 113,542,128 (GRCm39) F754I probably benign Het
Cpz C T 5: 35,669,772 (GRCm39) E302K probably damaging Het
Daw1 A T 1: 83,186,987 (GRCm39) I371F possibly damaging Het
Dennd1b C A 1: 139,096,690 (GRCm39) probably benign Het
Dhtkd1 T G 2: 5,937,293 (GRCm39) Q73P probably benign Het
Dmgdh T C 13: 93,847,878 (GRCm39) I525T probably benign Het
Dst C A 1: 34,267,450 (GRCm39) T4964K possibly damaging Het
Fh1 C T 1: 175,437,344 (GRCm39) V252I probably benign Het
Gm13199 C T 2: 5,867,517 (GRCm39) probably benign Het
Il1rn T C 2: 24,238,611 (GRCm39) S82P possibly damaging Het
Lama4 T C 10: 38,973,134 (GRCm39) V1567A possibly damaging Het
Lamtor4 A G 5: 138,254,054 (GRCm39) probably null Het
Llgl1 A G 11: 60,596,842 (GRCm39) N148D probably benign Het
Lmo7 G T 14: 102,139,738 (GRCm39) G774V probably damaging Het
Luzp2 A T 7: 54,914,050 (GRCm39) K293M possibly damaging Het
Mknk1 T C 4: 115,720,223 (GRCm39) V83A probably damaging Het
Mug2 T C 6: 122,056,598 (GRCm39) V1181A probably benign Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Or1ad8 A G 11: 50,898,502 (GRCm39) I234M probably benign Het
Or2aj4 A T 16: 19,385,187 (GRCm39) W149R probably benign Het
Osbpl3 A G 6: 50,297,054 (GRCm39) I548T probably benign Het
Parp14 A G 16: 35,656,499 (GRCm39) Y1676H probably damaging Het
Phtf1 A T 3: 103,901,198 (GRCm39) K416* probably null Het
Pmp2 T C 3: 10,247,570 (GRCm39) T40A probably benign Het
Ptpra T C 2: 130,386,024 (GRCm39) M541T probably damaging Het
Rapgef6 A G 11: 54,548,089 (GRCm39) I753V possibly damaging Het
Rdh14 T C 12: 10,441,162 (GRCm39) V108A probably benign Het
Rnf38 A T 4: 44,138,748 (GRCm39) H248Q probably damaging Het
Rsph6a A C 7: 18,808,001 (GRCm39) Y388S probably damaging Het
Ryr2 T C 13: 11,746,609 (GRCm39) D1981G probably benign Het
Sf3a3 A G 4: 124,609,694 (GRCm39) K97E possibly damaging Het
Shisa9 A G 16: 12,085,620 (GRCm39) T394A probably benign Het
Slc43a2 T A 11: 75,436,567 (GRCm39) probably null Het
Slc45a1 A G 4: 150,728,734 (GRCm39) F23S probably benign Het
Slc7a10 T A 7: 34,899,723 (GRCm39) V435E probably benign Het
Snx15 A G 19: 6,178,096 (GRCm39) Y28H probably damaging Het
Spef2 T G 15: 9,663,280 (GRCm39) K834Q possibly damaging Het
Tdpoz2 G T 3: 93,559,230 (GRCm39) Y247* probably null Het
Tedc2 G A 17: 24,436,923 (GRCm39) R271W possibly damaging Het
Tfr2 C A 5: 137,577,183 (GRCm39) H378Q probably benign Het
Tigit T A 16: 43,469,581 (GRCm39) H170L probably benign Het
Tmem62 A T 2: 120,817,107 (GRCm39) Q91L probably benign Het
Tmtc1 G T 6: 148,327,416 (GRCm39) C32* probably null Het
Txndc12 G A 4: 108,713,407 (GRCm39) V90I probably benign Het
Vmn2r93 C A 17: 18,546,063 (GRCm39) T645K probably benign Het
Vmn2r96 C T 17: 18,806,664 (GRCm39) T345I probably benign Het
Vps13d A T 4: 144,882,427 (GRCm39) D1055E probably benign Het
Xirp2 A G 2: 67,342,959 (GRCm39) I1733M probably benign Het
Zfp512b T C 2: 181,230,208 (GRCm39) H516R probably damaging Het
Zfp606 T C 7: 12,227,615 (GRCm39) S521P probably damaging Het
Zfp715 A T 7: 42,949,054 (GRCm39) V302E 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
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'- AGTTGTTAGCAAGCAAGGTCTG -3'
(R):5'- ATGAGGAAGTGACCTTGGCC -3'

Sequencing Primer
(F):5'- GCAAGCAAGGTCTGAAATTGTATAC -3'
(R):5'- TGACCTTGGCCACTTAAAGG -3'
Posted On 2014-08-01