|Institutional Source||Beutler Lab|
|Gene Name||excision repair cross-complementing rodent repair deficiency, complementation group 3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6026 (G1)|
|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 32245921 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000025241 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025241]|
|Predicted Effect||probably null
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.458|
|Coding Region Coverage||
|Validation Efficiency||97% (73/75)|
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||
|Other mutations in Ercc3||
(F):5'- AAGGTGCAGAGTCTGGATTCC -3'
(R):5'- TCTGAACCAAAATGGATCCTATGGAG -3'
(F):5'- TTTCTCTCACAGATTTCTAAGACGG -3'
(R):5'- ATCCTATGGAGAGCAGCTTCCTAG -3'