|Institutional Source||Beutler Lab|
|Gene Name||bromodomain containing 7|
|Synonyms||bromodomain protein 75 kDa, CELTIX1, BP75|
|Is this an essential gene?||Probably essential (E-score: 0.801)|
|Stock #||R5287 (G1)|
|Chromosomal Location||88331039-88362194 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 88357541 bp|
|Amino Acid Change||Glutamine to Lysine at position 148 (Q148K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034085 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034085]|
|Predicted Effect||probably damaging
AA Change: Q148K
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: Q148K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.072|
|Coding Region Coverage||
|Validation Efficiency||98% (56/57)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired cognitive behavior and dendrite morphology in the medial prefrontal cortex. Mice homozygous for a different knock-out allele die in utero prior to E16.5, showing fetal growth retardation and altered limb, blood vessel and organ development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Brd7||
(F):5'- CATAACGCCCTTCAAGTTGCC -3'
(R):5'- AGTTGGTATTCTCAGCCTTCAACAC -3'
(F):5'- CCTTCAAGTTGCCAGTTAAAACAG -3'
(R):5'- GCCTTCAACACTTGTGTGATAAATTG -3'