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|Institutional Source||Beutler Lab|
|Gene Name||potassium large conductance calcium-activated channel, subfamily M, beta member 4|
|Synonyms||2900045G12Rik, Slowpoke beta 4|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7103 (G1)|
|Chromosomal Location||116417861-116473878 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 116473259 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 88 (Y88C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000065384 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000068233]|
|Predicted Effect||possibly damaging
AA Change: Y88C
PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: Y88C
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
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 modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the beta 1 subunit. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in no obvious phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnmb4||
(F):5'- TCTGTTTGCAGAGAGGCTCG -3'
(R):5'- AGGGTGTCTTACGAGTACACG -3'
(F):5'- TTTGCAGAGAGGCTCGCGTAC -3'
(R):5'- CCGAAGACAAGAGCATCCGG -3'