|Institutional Source||Beutler Lab|
|Gene Name||damage specific DNA binding protein 1|
|Synonyms||DNA repair protein, p127-Ddb1, damage-specific DNA-binding protein, DNA repair|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6244 (G1)|
|Chromosomal Location||10605625-10629813 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 10625923 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 865 (E865G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025649 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025649]|
|Predicted Effect||probably damaging
AA Change: E865G
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: E865G
|Coding Region Coverage||
|Validation Efficiency||96% (82/85)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]
PHENOTYPE: Complete deletion of this gene results in embryonic lethality; conditional mutation causes increased apoptosis in the developing brain, and defects in lens formation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ddb1||
(F):5'- GTAGCTGTGTCTCAAGAGAGC -3'
(R):5'- TCCCCAAATTCCAGCTTAGAGTC -3'
(F):5'- ACATTATATCCTGACTGCATTTTACC -3'
(R):5'- CAAATTCCAGCTTAGAGTCCATTC -3'