|Institutional Source||Beutler Lab|
|Gene Name||bromodomain PHD finger transcription factor|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R0744 (G1)|
|Chromosomal Location||107033081-107132127 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (1 bp from exon)|
|DNA Base Change (assembly)||C to A at 107110812 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000102374 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057892] [ENSMUST00000106762] [ENSMUST00000106763]|
|AlphaFold||no structure available at present|
|Meta Mutation Damage Score||0.9596|
|Coding Region Coverage||
|Validation Efficiency||98% (91/93)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with embryonic growth arrest around early gastrulation and a greatly reduced ectoplacental cone. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bptf||
(F):5'- TACTGCCTGAGCTACACAGGTGAC -3'
(R):5'- TGTGTGAAGCCGCCTCTTGAAG -3'
(F):5'- TCCTTTAACAGCAAGTAAGGCG -3'
(R):5'- AGCCGCCTCTTGAAGAAGTG -3'