|Institutional Source||Beutler Lab|
|Gene Name||bestrophin 1|
|Synonyms||best macular dystrophy, mBest1, Vmd2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5633 (G1)|
|Chromosomal Location||9985174-10001633 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 9992103 bp|
|Amino Acid Change||Leucine to Proline at position 197 (L197P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000113053 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000117346]|
|Predicted Effect||probably benign
AA Change: L197P
PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
AA Change: L197P
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3355|
|Coding Region Coverage||
|Validation Efficiency||98% (55/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]
PHENOTYPE: Homozygous null mutations of this gene generally result in abnormal retinal pigment epithelium morphology and/or altered eye electrophysiology. Homozygotes for a null allele show male subfertility associated with abnormal sperm morphology and reduced motility in the absence of retinal pathology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Best1||
(F):5'- CCGTGGGCTGTAGAATCTTG -3'
(R):5'- TGGGACTCAATAATTTTGTGCG -3'
(F):5'- TCATATACTACCAGGACGGG -3'
(R):5'- GGACTCAATAATTTTGTGCGTTGAAG -3'