|Institutional Source||Beutler Lab|
|Gene Name||TATA-box binding protein associated factor 4b|
|Synonyms||Taf2c2, TAFII105, 2610524B04Rik, 105kDa, 4932409F03Rik|
|Is this an essential gene?||Possibly non essential (E-score: 0.380)|
|Stock #||R5010 (G1)|
|Chromosomal Location||14783245-14900359 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 14822172 bp|
|Amino Acid Change||Asparagine to Serine at position 594 (N594S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000126909 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000169862]|
|AlphaFold||no structure available at present|
|Predicted Effect||possibly damaging
AA Change: N594S
PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: N594S
|Meta Mutation Damage Score||0.0682|
|Coding Region Coverage||
|Validation Efficiency||98% (65/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TATA binding protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of genes by RNA polymerase II. This gene encodes a cell type-specific TAF that may be responsible for mediating transcription by a subset of activators in B cells. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygotes for a targeted null mutation are infertile due to a granulosa cell defect preventing normal follicle formation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Taf4b||
(F):5'- TCATAGTTCTGGGCAGCTTAAG -3'
(R):5'- AGCATGTACAATTTGTGTCTGC -3'
(F):5'- TTTTGGGAAGAGGTATTCTAC -3'
(R):5'- AGGTTATGAACTGCCACGTG -3'