|Institutional Source||Beutler Lab|
|Gene Name||potassium voltage-gated channel, shaker-related subfamily, beta member 1|
|Synonyms||Kvbeta1.1, mKv(beta)1, Akr8a8|
|Is this an essential gene?||Probably non essential (E-score: 0.095)|
|Stock #||R7424 (G1)|
|Chromosomal Location||65109384-65378223 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 65266503 bp|
|Amino Acid Change||Lysine to Asparagine at position 78 (K78N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047480 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049230]|
|Predicted Effect||possibly damaging
AA Change: K78N
PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: K78N
|Meta Mutation Damage Score||0.0745|
|Coding Region Coverage||
|Validation Efficiency||99% (76/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene experience some learning defects but are otherwise normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnab1||
(F):5'- GCTAAGCCTGAGATTTTGAGTTTC -3'
(R):5'- TTGATGAGCATGCTGGACAAG -3'
(F):5'- CCTCAGCTCTTGTCAAGAA -3'
(R):5'- GGAAAGCCTTCCTCAGGGG -3'