|Institutional Source||Beutler Lab|
|Gene Name||potassium voltage-gated channel, subfamily H (eag-related), member 8|
|Synonyms||ELK1, C130090D05Rik, Kv12.1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5214 (G1)|
|Chromosomal Location||52602709-52979194 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 52898458 bp|
|Amino Acid Change||Leucine to Serine at position 527 (L527S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000049206 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039366]|
|Predicted Effect||probably damaging
AA Change: L527S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L527S
|Meta Mutation Damage Score||0.8337|
|Coding Region Coverage||
|Validation Efficiency||100% (77/77)|
|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, subfamily H. This member is a pore-forming (alpha) subunit. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnh8||
(F):5'- TCAGCTGATTGTCCATGGTAC -3'
(R):5'- ACACGAAGTAGATGGCCTGC -3'
(F):5'- AAGTCATAGTCAGTACATAGCCCTGG -3'
(R):5'- GTAGATGGCCTGCAAAGCATCC -3'