Incidental Mutation 'IGL03334:Ercc3'
ID 416984
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
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL03334
Quality Score
Status
Chromosome 18
Chromosomal Location 32240300-32270151 bp(+) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 32240837 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025241] [ENSMUST00000096575]
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 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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,947,475 F762L probably benign Het
A430078G23Rik A T 8: 3,388,023 I286F probably benign Het
Angpt1 T A 15: 42,496,412 E208V possibly damaging Het
Arhgef5 T C 6: 43,274,000 S562P possibly damaging Het
Asb6 T C 2: 30,824,484 T205A probably benign Het
B4galnt4 G A 7: 141,067,441 probably null Het
Clca4a A T 3: 144,953,866 M743K probably benign Het
Col14a1 T C 15: 55,448,821 probably benign Het
Col27a1 A T 4: 63,314,722 Y359F probably damaging Het
Dhcr7 T A 7: 143,840,497 V125D possibly damaging Het
Fnbp1l A G 3: 122,557,949 V315A probably benign Het
Gm17174 T A 14: 51,591,963 R48* probably null Het
Golga4 C T 9: 118,537,233 probably benign Het
Grin1 C T 2: 25,298,393 probably null Het
Ifi203 T A 1: 173,937,835 K58* probably null Het
Ighv2-9-1 A G 12: 113,769,923 S93P probably benign Het
Il27ra A G 8: 84,031,122 V594A probably benign Het
Krr1 T G 10: 111,980,054 S275R probably benign Het
Lars T C 18: 42,221,506 D792G probably benign Het
Myo1f G A 17: 33,598,194 R737H probably damaging Het
Nebl T A 2: 17,413,711 H292L probably damaging Het
Nell1 C A 7: 50,062,611 probably null Het
Nktr T C 9: 121,748,176 F412L probably benign Het
Nlrp3 T A 11: 59,549,016 I473N probably damaging Het
Olfr338 T C 2: 36,377,051 Y92H possibly damaging Het
Phf3 A G 1: 30,805,729 V1383A probably damaging Het
Prss48 T C 3: 85,997,318 E191G probably damaging Het
Psg25 T A 7: 18,529,774 L41F probably benign Het
Sema3b A G 9: 107,604,077 L78P probably damaging Het
Spen G T 4: 141,469,969 N3496K probably damaging Het
Tbk1 A T 10: 121,584,199 H28Q possibly damaging Het
Trpv3 T A 11: 73,281,665 probably benign Het
Vmn1r218 T C 13: 23,136,618 L45P probably damaging Het
Vmn2r35 T A 7: 7,786,494 Y748F probably damaging Het
Vps18 C T 2: 119,297,482 R929W probably damaging Het
Xpnpep1 T C 19: 53,010,146 K224E probably damaging Het
Zbed5 T A 5: 129,902,355 F382I possibly damaging Het
Other mutations in Ercc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Ercc3 APN 18 32264545 splice site probably benign
IGL01108:Ercc3 APN 18 32264585 missense probably damaging 0.99
IGL01131:Ercc3 APN 18 32269889 makesense probably null
IGL01541:Ercc3 APN 18 32248319 missense possibly damaging 0.87
IGL01959:Ercc3 APN 18 32257358 missense probably damaging 1.00
IGL02862:Ercc3 APN 18 32243202 critical splice donor site probably null
IGL03107:Ercc3 APN 18 32248307 missense possibly damaging 0.95
PIT4651001:Ercc3 UTSW 18 32240312 unclassified probably benign
R0545:Ercc3 UTSW 18 32245902 missense probably damaging 1.00
R0561:Ercc3 UTSW 18 32245539 missense possibly damaging 0.85
R1159:Ercc3 UTSW 18 32264558 missense possibly damaging 0.86
R1496:Ercc3 UTSW 18 32261297 splice site probably benign
R1733:Ercc3 UTSW 18 32267165 missense possibly damaging 0.60
R1943:Ercc3 UTSW 18 32246610 missense probably damaging 1.00
R2013:Ercc3 UTSW 18 32248429 missense probably benign
R2015:Ercc3 UTSW 18 32248429 missense probably benign
R2303:Ercc3 UTSW 18 32245547 missense probably benign 0.08
R4393:Ercc3 UTSW 18 32265621 missense probably benign 0.00
R4600:Ercc3 UTSW 18 32245571 missense probably benign 0.00
R4601:Ercc3 UTSW 18 32245571 missense probably benign 0.00
R4602:Ercc3 UTSW 18 32245571 missense probably benign 0.00
R4603:Ercc3 UTSW 18 32245571 missense probably benign 0.00
R4796:Ercc3 UTSW 18 32248310 missense probably damaging 1.00
R4957:Ercc3 UTSW 18 32243117 missense probably damaging 1.00
R5253:Ercc3 UTSW 18 32269864 missense probably damaging 0.97
R5265:Ercc3 UTSW 18 32254243 missense probably damaging 0.99
R5342:Ercc3 UTSW 18 32245595 missense probably benign 0.01
R5455:Ercc3 UTSW 18 32267209 missense possibly damaging 0.89
R5639:Ercc3 UTSW 18 32265714 missense probably damaging 0.99
R5702:Ercc3 UTSW 18 32254153 missense probably damaging 0.99
R6026:Ercc3 UTSW 18 32245921 critical splice donor site probably null
R6053:Ercc3 UTSW 18 32246754 missense probably damaging 1.00
R6650:Ercc3 UTSW 18 32261336 missense probably damaging 1.00
R7150:Ercc3 UTSW 18 32257272 missense probably damaging 1.00
R7783:Ercc3 UTSW 18 32248243 missense probably damaging 1.00
R8331:Ercc3 UTSW 18 32240818 missense probably damaging 0.97
R8905:Ercc3 UTSW 18 32265718 missense possibly damaging 0.94
Z1177:Ercc3 UTSW 18 32254161 missense probably damaging 1.00
Posted On 2016-08-02