|Institutional Source||Beutler Lab|
|Gene Name||K+ voltage-gated channel, subfamily S, 1|
|Is this an essential gene?||Probably non essential (E-score: 0.050)|
|Stock #||R4875 (G1)|
|Chromosomal Location||164163619-164171113 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 164168101 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 246 (Y246C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038901 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045196]|
|Predicted Effect||probably damaging
AA Change: Y246C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y246C
|Meta Mutation Damage Score||0.16|
|Coding Region Coverage||
|Validation Efficiency||95% (57/60)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcns1||
(F):5'- CGGAACACTTGCACTACCTTG -3'
(R):5'- AGAATCCAGGCTACTCGCTG -3'
(F):5'- ACTTGCACTACCTTGCCCAG -3'
(R):5'- TGCCCAGCAAGCTCTTCAG -3'