|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 #||R7096 (G1)|
|Chromosomal Location||87698945-87733346 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 87719291 bp|
|Amino Acid Change||Arginine to Glutamine at position 240 (R240Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026703 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026703]|
|Predicted Effect||probably benign
AA Change: R240Q
PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: R240Q
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||97% (68/70)|
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'- AAACGTGTTCAGACGCCTCAG -3'
(R):5'- AATCCTGAGGCAAGGGTGTC -3'
(F):5'- TGTTCAGACGCCTCAGTGTGAC -3'
(R):5'- CACTGAGGGGAGGGATCCTG -3'