|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: 0.442)|
|Stock #||R7538 (G1)|
|Chromosomal Location||14783245-14900359 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 14813545 bp|
|Amino Acid Change||Leucine to Proline at position 475 (L475P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000126909 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000169862]|
|Predicted Effect||probably damaging
AA Change: L475P
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: L475P
|Coding Region Coverage||
|Validation Efficiency||97% (77/79)|
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'- TGACACTGCATTCTGTTGCC -3'
(R):5'- AGTATACCGAGTCTTGACAGTTTTC -3'
(F):5'- CTGCTGCAACAGGAGGTAC -3'
(R):5'- TCTGAAGAAATGAAATGGTACTCAC -3'