|Institutional Source||Beutler Lab|
|Gene Name||TATA-box binding protein associated factor, RNA polymerase I, B|
|Synonyms||A230108M10Rik, mTAFI68, p63, 4930408G01Rik|
|Is this an essential gene?||Probably essential (E-score: 0.944)|
|Stock #||R1873 (G1)|
|Chromosomal Location||24498359-24558539 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 24556669 bp|
|Amino Acid Change||Leucine to Glutamine at position 496 (L496Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075339 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075954] [ENSMUST00000221372]|
|Predicted Effect||possibly damaging
AA Change: L496Q
PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: L496Q
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.2960|
|Coding Region Coverage||
|Validation Efficiency||98% (82/84)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes one of the SL1-specific TAFs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Taf1b||
(F):5'- GGCTTTCCTTGTGCAGTAAC -3'
(R):5'- CAAGATAGTGCATTTGAAAGAGACC -3'
(F):5'- GCTTTCCTTGTGCAGTAACATTTTTC -3'
(R):5'- CCAAGAGGTATATGGAAGGGTTTG -3'