|Institutional Source||Beutler Lab|
|Gene Name||Bardet-Biedl syndrome 4 (human)|
|Is this an essential gene?||Possibly essential (E-score: 0.572)|
|Stock #||R4701 (G1)|
|Chromosomal Location||59321990-59353508 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 59323519 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 440 (V440A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026265 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026265]|
AA Change: V440A
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: V440A
|Meta Mutation Damage Score||0.0595|
|Coding Region Coverage||
|Validation Efficiency||96% (108/112)|
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 severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's 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 has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity and polyphagia after weaning, retinal degeneration, male infertility, absence of sperm cell flagella, renal abnormalities, impaired olfaction, and abnormal olfactory epithelium and neurons. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bbs4||
(F):5'- TCCCCACTAAGTCTTCAGCG -3'
(R):5'- GTAGTCCTCCTAGCACTTGAAAAGG -3'
(F):5'- CACTAAGTCTTCAGCGTTCTGTGTAG -3'
(R):5'- CTTCAATTGCTAGTACCAGCAGG -3'