|Institutional Source||Beutler Lab|
|Gene Name||Bardet-Biedl syndrome 12 (human)|
|Synonyms||LOC241950, LOC386537, LOC241950|
|Is this an essential gene?||Probably non essential (E-score: 0.079)|
|Stock #||R6886 (G1)|
|Chromosomal Location||37312554-37321453 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 37319241 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 61 (D61G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000052179 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057975] [ENSMUST00000108121]|
|Predicted Effect||probably damaging
AA Change: D61G
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: D61G
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a targeted allele exhibit enhanced adipogenesis, late onset obesity, increased susceptibility to diet-induced obesity, increased insulin sensitivity, increased glucose usage, and decreased inflammatory response. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bbs12||
(F):5'- GATGGCTTGCAGGGTCATAAAC -3'
(R):5'- TGTGTATGGGTACTTGAAGAGAAAC -3'
(F):5'- CTTGCAGGGTCATAAACAGAAG -3'
(R):5'- GCAAGAGTTCAAGCCTTCTG -3'