|Institutional Source||Beutler Lab|
|Gene Name||Bardet-Biedl syndrome 10 (human)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4608 (G1)|
|Chromosomal Location||111298679-111301727 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 111300820 bp|
|Amino Acid Change||Isoleucine to Serine at position 598 (I598S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049387 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040454] [ENSMUST00000105275]|
|Predicted Effect||probably damaging
AA Change: I598S
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: I598S
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.4320|
|Coding Region Coverage||
|Validation Efficiency||100% (80/80)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele develop obesity, hyperleptinemia, retinal degeneration, structural defects in renal glomeruli, microalbuminuria, polyuria, increased circulating antidiuretic hormone levels, and vacuolated renal epithelial cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bbs10||
(F):5'- ATCCTACAGCAGAAGACACTGG -3'
(R):5'- GACTCGAACCCTGATTGACCAC -3'
(F):5'- GGAACAGAAATTTCTTTCGAACAC -3'
(R):5'- GATTGACCACTTACCATGGGTTGAC -3'