|Institutional Source||Beutler Lab|
|Gene Name||potassium voltage gated channel, Shaw-related subfamily, member 4|
|Is this an essential gene?||Probably non essential (E-score: 0.077)|
|Stock #||R5259 (G1)|
|Chromosomal Location||107438303-107459552 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 107448085 bp|
|Amino Acid Change||Phenylalanine to Serine at position 349 (F349S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000009617 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000009617]|
|Predicted Effect||probably damaging
AA Change: F349S
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: F349S
|Meta Mutation Damage Score||0.9384|
|Coding Region Coverage||
|Validation Efficiency||100% (68/68)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnc4||
(F):5'- TCGGCATAATAGATCATGGTGG -3'
(R):5'- AGGGAATATCACCAGCGTGC -3'
(F):5'- TGGCGAAGATGAGCACACCC -3'
(R):5'- ATTCTTACCTACATCGAGGGTG -3'