|Institutional Source||Beutler Lab|
|Gene Name||bromodomain, testis-specific|
|Synonyms||Fsrg3, 7420412D09Rik, Brd6|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7887 (G1)|
|Chromosomal Location||107331159-107387058 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 107359933 bp|
|Amino Acid Change||Serine to Proline at position 676 (S676P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031215 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031215]|
Structure of Brdt bromodomain 2 bound to an acetylated histone H3 peptide [X-RAY DIFFRACTION]
Structure of Brdt bromodomain BD1 bound to a diacetylated histone H4 peptide. [X-RAY DIFFRACTION]
|Predicted Effect||possibly damaging
AA Change: S676P
PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
AA Change: S676P
|Meta Mutation Damage Score||0.0897|
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
FUNCTION: The protein encoded by this gene belongs to the BET protein family. BET proteins have two N-terminal bromodomains and one C-terminal extraterminal domain (ET domain). BET proteins regulate chromatin reorganization via binding to acetylated histones. This gene is thought to play a role in the transcriptional regulation of spermatogenesis. Although referred to as testis-specific bromodomain (Brdt) protein, RT-PCR indicates that this gene is expressed in both mouse oocytes and testes. Alternative splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this genes leads to arrest of spermatogenesis and male infertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Brdt||
(F):5'- TCCCTGTTTTGCAGTGGAGAAG -3'
(R):5'- CAGGCCCAAGTCACATCCTTTC -3'
(F):5'- GTGGAGAAGCCGCCCCC -3'
(R):5'- AGTCACATCCTTTCCTTCTTTTATGG -3'