|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 #||R6930 (G1)|
|Chromosomal Location||107331159-107387058 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 107359215 bp|
|Amino Acid Change||Leucine to Phenylalanine at position 494 (L494F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031215 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031215]|
|Predicted Effect||probably benign
AA Change: L494F
PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: L494F
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
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'- TCAAGTAAGCATGTTCAGTGAGTG -3'
(R):5'- GCCTTCAGGGTCTCAAAGTC -3'
(F):5'- AGTGAGTGACTGCCCAGG -3'
(R):5'- TCAGGGTCTCAAAGTCGATCTCG -3'