|Institutional Source||Beutler Lab|
|Gene Name||potassium voltage-gated channel, Isk-related subfamily, gene 4|
|Is this an essential gene?||Probably non essential (E-score: 0.175)|
|Stock #||R2426 (G1)|
|Chromosomal Location||78816758-78820028 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 78817971 bp (GRCm38)|
|Amino Acid Change||Alanine to Glutamic Acid at position 112 (A112E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055415 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057262] [ENSMUST00000187432]|
AA Change: A112E
PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: A112E
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) 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. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcne4||
(F):5'- ATGCTGGGCTACATGAAATCC -3'
(R):5'- TCTGTCAAGTGTAGCTTACGGAG -3'
(F):5'- CTGGGCTACATGAAATCCAAGAG -3'
(R):5'- TACCTCCTAGCACCTGGTGG -3'