|Institutional Source||Beutler Lab|
|Gene Name||bromodomain adjacent to zinc finger domain, 1B|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6435 (G1)|
|Chromosomal Location||135187264-135246129 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 135237945 bp|
|Amino Acid Change||Aspartic acid to Asparagine at position 1203 (D1203N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002825 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002825]|
|Predicted Effect||probably damaging
AA Change: D1203N
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D1203N
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||100% (32/32)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality by P2, small size at birth, impaired double strand DNA repair, and heart defects. Mice heterozygous for a null allele exhibit hypercalcemia and heart defects. Mice homozygous for an ENU mutation exhibit craniofacial and skeletal defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Baz1b||
(F):5'- GCTGTTCTAGAGGATCCGTG -3'
(R):5'- AGCTTTAACTCCTTAGAAACGCTC -3'
(F):5'- TGTTGGGCAGCTAGGACTCC -3'
(R):5'- TTTGTAGCCAAGGATGACCC -3'