|Institutional Source||Beutler Lab|
|Gene Name||potassium large conductance calcium-activated channel, subfamily M, beta member 1|
|Synonyms||BK channel beta subunit, BKbeta1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7872 (G1)|
|Chromosomal Location||33963013-33973641 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 33966275 bp|
|Amino Acid Change||Tyrosine to Histidine at position 74 (Y74H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020362 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020362]|
|Predicted Effect||probably damaging
AA Change: Y74H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y74H
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the product of this gene, the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in increased blood pressure, and impaired motor coordination and cerebellar function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnmb1||
(F):5'- GGTATGTGTCATCCTTGTCTCTAAG -3'
(R):5'- AAGGCTGACTCCACCTCAAG -3'
(F):5'- GTCATCCTTGTCTCTAAGGGATG -3'
(R):5'- GCCATAAGATTCCATTCAGGTGG -3'