|Institutional Source||Beutler Lab|
|Gene Name||TATA-box binding protein associated factor 2|
|Synonyms||CIF150, 150kDa, TAF2B, 4732460C16Rik, TAFII150|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1458 (G1)|
|Chromosomal Location||55015131-55072152 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 55059915 bp|
|Amino Acid Change||Methionine to Lysine at position 322 (M322K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043733 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041733]|
|Predicted Effect||probably damaging
AA Change: M322K
PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
AA Change: M322K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.422|
|Coding Region Coverage||
|Validation Efficiency||98% (95/97)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Taf2||
(F):5'- AAGAAGGCACTATGACCCATTACTTGC -3'
(R):5'- GTTGGGCATGTGAAAGCCATTGAG -3'
(F):5'- GCACTATGACCCATTACTTGCTTATG -3'
(R):5'- TGCAAACTAAACATGCCTGTTC -3'