Incidental Mutation 'IGL02862:Ercc3'
ID 362208
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02862
Quality Score
Status
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 32376255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025241] [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 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
Coding Region Coverage
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A G 7: 28,611,659 (GRCm39) probably benign Het
Adhfe1 T C 1: 9,624,036 (GRCm39) L170P probably damaging Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Akr1e1 T C 13: 4,659,092 (GRCm39) T11A possibly damaging Het
Arhgap23 A G 11: 97,347,306 (GRCm39) E668G probably damaging Het
Ccdc163 G A 4: 116,569,910 (GRCm39) probably null Het
Egfr A T 11: 16,833,562 (GRCm39) Y610F probably benign Het
Fasn G T 11: 120,709,805 (GRCm39) H417Q possibly damaging Het
Gjd2 A G 2: 113,843,624 (GRCm39) probably benign Het
Grip2 C T 6: 91,765,085 (GRCm39) R59H probably damaging Het
H2bc11 C T 13: 22,227,515 (GRCm39) S39L possibly damaging Het
Ighv1-43 A G 12: 114,909,859 (GRCm39) V21A probably damaging Het
Ltbp1 G A 17: 75,697,466 (GRCm39) G1368D probably damaging Het
Mogs G T 6: 83,092,871 (GRCm39) G104C probably damaging Het
Nfix T A 8: 85,440,475 (GRCm39) T472S probably benign Het
Or5m9 T C 2: 85,877,648 (GRCm39) V274A probably benign Het
Ovch2 A T 7: 107,394,138 (GRCm39) V105E probably damaging Het
Pex1 G T 5: 3,655,424 (GRCm39) probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Prl7a1 T C 13: 27,823,872 (GRCm39) T70A probably benign Het
Shmt2 C T 10: 127,354,743 (GRCm39) R311Q probably benign Het
St3gal4 A G 9: 34,963,543 (GRCm39) I255T probably benign Het
Taf8 C T 17: 47,805,339 (GRCm39) A187T probably damaging Het
Tm6sf1 T A 7: 81,520,504 (GRCm39) V62D probably damaging Het
Trpm5 A T 7: 142,636,262 (GRCm39) W537R probably damaging Het
Vmn2r101 T A 17: 19,831,867 (GRCm39) L621H 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
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
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
Posted On 2015-12-18