|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 #||R7150 (G1)|
|Chromosomal Location||32240300-32270151 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 32257272 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 538 (N538I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025241 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025241]|
|Predicted Effect||probably damaging
AA Change: N538I
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N538I
|Meta Mutation Damage Score||0.9527|
|Coding Region Coverage||
|Validation Efficiency||98% (59/60)|
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'- GCTAATTCTGCTAAATGAAAGAGCATC -3'
(R):5'- CACAAGTTCCTGGGACGAG -3'
(F):5'- GAGCATCAAAAGTCCTTAATGCTGTG -3'
(R):5'- GAACAGAGCGCGTTAGATCCC -3'