|Institutional Source||Beutler Lab|
|Gene Name||TATA-box binding protein associated factor 5|
|Is this an essential gene?||Probably essential (E-score: 0.966)|
|Stock #||R3689 (G1)|
|Chromosomal Location||47067748-47083479 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 47078785 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 519 (K519E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026027 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026027] [ENSMUST00000096014]|
|Predicted Effect||probably damaging
AA Change: K519E
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: K519E
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.102|
|Coding Region Coverage||
|Validation Efficiency||100% (53/53)|
|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 an integral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strongly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming a nucleosome-like core in the TFIID complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Taf5||
(F):5'- CCAAACTTGTAATAAGGTCAGGAC -3'
(R):5'- GCAACCATGTTTAGCATTTGC -3'
(F):5'- AGTCCTGGTTTTCACACTGAGTAAC -3'
(R):5'- TGCATTTAACTTTAAGCTCTCAGTTC -3'