|Institutional Source||Beutler Lab|
|Gene Name||down-regulator of transcription 1|
|Synonyms||Dr1l, NC2, 1700121L09Rik, NC2beta|
|Is this an essential gene?||Probably essential (E-score: 0.951)|
|Stock #||PIT4696001 (G1)|
|Chromosomal Location||108268897-108280526 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 108269738 bp|
|Amino Acid Change||Isoleucine to Lysine at position 50 (I50K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031190 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031190]|
|Predicted Effect||probably damaging
AA Change: I50K
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: I50K
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and activated levels of transcription. The encoded protein is phosphorylated in vivo and this phosphorylation affects its interaction with TBP. This protein contains a histone fold motif at the amino terminus, a TBP-binding domain, and a glutamine- and alanine-rich region. The binding of DR1 repressor complexes to TBP-promoter complexes may establish a mechanism in which an altered DNA conformation, together with the formation of higher order complexes, inhibits the assembly of the preinitiation complex and controls the rate of RNA polymerase II transcription. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dr1||
(F):5'- ACAGCCTGTTGAGAAATCTTCG -3'
(R):5'- AGTGGAATGAAGGCTCTGTG -3'
(F):5'- CCTGTTGAGAAATCTTCGTGGAG -3'
(R):5'- GACGCCAAGTGGTTACTCTATTAGC -3'