Incidental Mutation 'IGL02929:Ercc1'
ID364036
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ercc1
Ensembl Gene ENSMUSG00000003549
Gene Nameexcision repair cross-complementing rodent repair deficiency, complementation group 1
SynonymsErcc-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02929
Quality Score
Status
Chromosome7
Chromosomal Location19344778-19356524 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 19355363 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000003645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003645] [ENSMUST00000047036] [ENSMUST00000140836] [ENSMUST00000160369] [ENSMUST00000176818]
Predicted Effect probably null
Transcript: ENSMUST00000003645
SMART Domains Protein: ENSMUSP00000003645
Gene: ENSMUSG00000003549

DomainStartEndE-ValueType
low complexity region 68 79 N/A INTRINSIC
Pfam:Rad10 100 213 2.9e-55 PFAM
HhH1 269 288 4.04e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000047036
SMART Domains Protein: ENSMUSP00000044653
Gene: ENSMUSG00000047649

DomainStartEndE-ValueType
Pfam:RNA_polI_A34 37 397 7.5e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140836
SMART Domains Protein: ENSMUSP00000114443
Gene: ENSMUSG00000040734

DomainStartEndE-ValueType
coiled coil region 25 49 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160192
Predicted Effect probably benign
Transcript: ENSMUST00000160369
SMART Domains Protein: ENSMUSP00000125655
Gene: ENSMUSG00000003549

DomainStartEndE-ValueType
low complexity region 68 79 N/A INTRINSIC
Pfam:Rad10 99 166 1.6e-34 PFAM
low complexity region 232 245 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162197
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176723
Predicted Effect probably benign
Transcript: ENSMUST00000176818
SMART Domains Protein: ENSMUSP00000135767
Gene: ENSMUSG00000003549

DomainStartEndE-ValueType
Pfam:Rad10 23 90 8.4e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177486
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]
PHENOTYPE: Nullizygous mutations result in growth and liver failure, nuclear anomalies and postnatal death, and may lead to spleen hypoplasia, altered isotype switching, B cell hypoproliferation, dystonia, ataxia, renal failure, sarcopenia, kyphosis, early replicative aging and sensitivity to oxidative stress. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A T 7: 34,245,082 M75K possibly damaging Het
A330070K13Rik A G 5: 130,384,411 probably null Het
Abcb5 T C 12: 118,944,939 Y90C probably damaging Het
Accs T C 2: 93,844,221 D112G probably damaging Het
Adam32 C A 8: 24,872,643 V13L possibly damaging Het
Adgrb3 A G 1: 25,553,824 V294A probably benign Het
Aes T A 10: 81,564,838 probably null Het
Agt G T 8: 124,557,090 A430E probably benign Het
Agxt2 T C 15: 10,388,293 probably benign Het
Atp2a1 A T 7: 126,456,944 I235N probably damaging Het
Atp8b1 T C 18: 64,561,662 I516M possibly damaging Het
Atrx T C X: 105,879,906 probably null Het
Brcc3 T C X: 75,435,499 V117A possibly damaging Het
Casp8ap2 T C 4: 32,624,105 probably benign Het
Ceacam3 T A 7: 17,158,190 V286D probably damaging Het
Cpb1 T C 3: 20,275,466 D32G probably benign Het
Cpsf1 C A 15: 76,602,127 probably null Het
Dock2 A T 11: 34,268,048 V1174E probably damaging Het
Dqx1 A G 6: 83,060,484 probably benign Het
Fn1 A G 1: 71,595,662 probably null Het
Ice1 A G 13: 70,596,203 L2087P probably damaging Het
Ift122 A G 6: 115,902,877 D612G probably damaging Het
Igkv6-25 A G 6: 70,215,945 Y112C probably damaging Het
Kit C A 5: 75,640,769 P572Q probably damaging Het
Kras A G 6: 145,232,089 probably benign Het
Ltv1 T C 10: 13,192,226 K6R possibly damaging Het
Man1a C T 10: 53,925,435 V443I probably benign Het
Mat2b A C 11: 40,684,713 D154E probably benign Het
Mtrf1 A G 14: 79,402,833 K143E probably benign Het
Myh13 A C 11: 67,367,165 I95L probably damaging Het
Myo7b A T 18: 31,994,925 D571E probably benign Het
Nek10 T A 14: 14,821,119 D28E possibly damaging Het
Npm2 T A 14: 70,652,238 probably null Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Plcb2 G A 2: 118,713,234 probably benign Het
Ppp1r3a A G 6: 14,719,811 M368T probably benign Het
Rnf123 G T 9: 108,069,076 T300K probably benign Het
Sbspon A G 1: 15,883,845 probably benign Het
Slc52a2 G A 15: 76,540,576 C338Y probably benign Het
Tdrd6 T A 17: 43,629,713 Q148L possibly damaging Het
Trpc3 T A 3: 36,638,474 K790* probably null Het
Ushbp1 C T 8: 71,394,476 A171T probably damaging Het
Usp32 T C 11: 84,988,372 T1504A probably benign Het
Wdr78 C T 4: 103,059,991 W552* probably null Het
Other mutations in Ercc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
joyless UTSW 7 19355177 splice site probably null
R2062:Ercc1 UTSW 7 19354370 makesense probably null
R4373:Ercc1 UTSW 7 19347132 unclassified probably benign
R4374:Ercc1 UTSW 7 19347132 unclassified probably benign
R4375:Ercc1 UTSW 7 19347132 unclassified probably benign
R4852:Ercc1 UTSW 7 19350704 missense probably damaging 1.00
R6000:Ercc1 UTSW 7 19347161 unclassified probably benign
R6415:Ercc1 UTSW 7 19355177 splice site probably null
X0057:Ercc1 UTSW 7 19356449 missense probably damaging 1.00
Posted On2015-12-18