|Institutional Source||Beutler Lab|
|Gene Name||B-TFIID TATA-box binding protein associated factor 1|
|Is this an essential gene?||Probably essential (E-score: 0.963)|
|Stock #||R2510 (G1)|
|Chromosomal Location||36926079-37012752 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 37002445 bp|
|Amino Acid Change||Arginine to Histidine at position 1538 (R1538H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000097093 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099494]|
|Predicted Effect||probably benign
AA Change: R1538H
PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: R1538H
|Meta Mutation Damage Score||0.19|
|Coding Region Coverage||
|Validation Efficiency||99% (77/78)|
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'- ACATACAGATGGAGTGAATTCTCTC -3'
(R):5'- GAGGAATATGCACTTTAGTCTTCTC -3'
(F):5'- AATTTACTGTTCATGCTGCATGTG -3'
(R):5'- TTAGTCTTCTCTATAAAAACAGCCCC -3'