|Institutional Source||Beutler Lab|
|Gene Name||BTB and CNC homology 1, basic leucine zipper transcription factor 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7715 (G1)|
|Chromosomal Location||87698945-87733346 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 87719971 bp|
|Amino Acid Change||Isoleucine to Valine at position 467 (I467V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026703 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026703]|
|PDB Structure||Structure of mouse Bach1 BTB domain [X-RAY DIFFRACTION]|
|Predicted Effect||possibly damaging
AA Change: I467V
PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: I467V
|Coding Region Coverage||
|Validation Efficiency||99% (67/68)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygous null mice are healthy and fertile with no gross abnormalities but express elevated levels of HMOX1. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bach1||
(F):5'- TGGAGTGACATTTGCAGCAC -3'
(R):5'- TGTGTGAACAGTGAGCGCAC -3'
(F):5'- TGACATTTGCAGCACGGACTC -3'
(R):5'- TGAGCGCACACGTCCAC -3'