|Institutional Source||Beutler Lab|
|Gene Name||potassium voltage-gated channel, shaker-related subfamily, member 7|
|Is this an essential gene?||Probably non essential (E-score: 0.164)|
|Stock #||R0624 (G1)|
|Chromosomal Location||45405960-45411382 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 45409690 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 467 (D467G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000103403 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000107774] [ENSMUST00000210347]|
|Predicted Effect||probably null
AA Change: D467G
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: D467G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.25|
|Coding Region Coverage||
|Validation Efficiency||98% (88/90)|
|MGI Phenotype||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. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcna7||
(F):5'- TTGCAGGTGTGCTCACCATCTC -3'
(R):5'- GCCAAGTCTCTTACAGTGCTACCC -3'
(F):5'- ATCTCTCTGCCTGTGCCTG -3'
(R):5'- ATAGAGCCCCTGGACATTTG -3'
|Posted On||Jul 11, 2013|