|Institutional Source||Beutler Lab|
|Gene Name||B-TFIID TATA-box binding protein associated factor 1|
|Is this an essential gene?||Probably essential (E-score: 0.947)|
|Stock #||R0919 (G1)|
|Chromosomal Location||36926079-37012752 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 36990743 bp|
|Amino Acid Change||Histidine to Glutamine at position 1109 (H1109Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097093 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099494]|
|Predicted Effect||probably benign
AA Change: H1109Q
PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
AA Change: H1109Q
|Meta Mutation Damage Score||0.118|
|Coding Region Coverage||
|Validation Efficiency||96% (43/45)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]
PHENOTYPE: Embryos homozygous for a gene-trapped allele display growth retardation. Embryos homozygous for an ENU-induced allele show growth retardation, edema, abnormal blood circulation, myocardial trabeculae hypoplasia, and delayed head and brain development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Btaf1||
(F):5'- GAAGTGTGAGACTGGCCTTCACTG -3'
(R):5'- GACATTGTCATCAATTGCTCCCAACC -3'
(F):5'- GCCTTGATGTACTATGCAATGGAC -3'
(R):5'- TTGCTCCCAACCAAGGAAG -3'