|Institutional Source||Beutler Lab|
|Gene Name||excision repair cross-complementing rodent repair deficiency, complementation group 6|
|Synonyms||CS group B correcting gene, C130058G22Rik, CSB|
|Essential gene?||Possibly essential (E-score: 0.576)|
|Stock #||R8479 (G1)|
|Chromosomal Location||32513521-32580990 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 32526406 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 305 (S305P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000066256 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000066807]|
AA Change: S305P
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: S305P
|Coding Region Coverage||
|Validation Efficiency||100% (52/52)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous mutant mice exhibit UV sensitivity, inactivation of transcription-coupled repair, increased incidence of induced skin and eye tumors, circling behavior, impaired coordination and lower body weight. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ercc6||
(F):5'- TGGCCAGATGACACCGTTTG -3'
(R):5'- TAGCTAACGTCATCAGAAGACAGG -3'
(F):5'- CGTTTGGTACCCCAGCC -3'
(R):5'- TCATCAGAAGACAGGCTGGCTAC -3'