|Institutional Source||Beutler Lab|
|Gene Name||TATA-box binding protein associated factor 8|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0344 (G1)|
|Chromosomal Location||47488050-47502287 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 47493580 bp|
|Amino Acid Change||Asparagine to Lysine at position 252 (N252K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000063201 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000067103]|
|Predicted Effect||probably benign
AA Change: N252K
PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
AA Change: N252K
|Meta Mutation Damage Score||0.1292|
|Coding Region Coverage||
|Validation Efficiency||99% (81/82)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a gene trap mutation die at E4.0 and exhibit apoptosis of inner mass cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Taf8||
(F):5'- ATGATGGAGACTGGACACACAGCC -3'
(R):5'- TGTTCCTACCCGAGGATTCCCAAG -3'
(F):5'- ACAGCCCATCATGCAAGC -3'
(R):5'- catttattcagtaagcacccactc -3'