|Institutional Source||Beutler Lab|
|Gene Name||bromodomain adjacent to zinc finger domain, 1B|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6010 (G1)|
|Chromosomal Location||135187264-135246129 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 135217451 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 585 (E585K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002825 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002825]|
|Predicted Effect||possibly damaging
AA Change: E585K
PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: E585K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1728|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
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'- TAGAGCCCGTCTTCCAGAAG -3'
(R):5'- TGCACTCAAGGCTTCCATTAGG -3'
(F):5'- GCTCTTGTCCAGAAACGCTATGAG -3'
(R):5'- TCCATTAGGGACACAGCAGTG -3'