|Institutional Source||Beutler Lab|
|Gene Name||potassium voltage-gated channel, shaker-related subfamily, member 4|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4002 (G1)|
|Chromosomal Location||107290639-107298502 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 107295914 bp|
|Amino Acid Change||Proline to Leucine at position 331 (P331L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037958 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037012]|
|Predicted Effect||probably damaging
AA Change: P331L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: P331L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9561|
|Coding Region Coverage||
|Validation Efficiency||97% (29/30)|
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 contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential.[provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal; however, a small subset of mutants exhibit spontaneous seizure activity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcna4||
(F):5'- CTATCAGTTGGGAGAGGAAGCC -3'
(R):5'- GCTGGGACAAGCAAAGCATC -3'
(F):5'- AGAGGAAGCCCTGCTCAAGTTC -3'
(R):5'- GGGACAAGCAAAGCATCGAACC -3'