|Institutional Source||Beutler Lab|
|Gene Name||potassium voltage gated channel, Shaw-related subfamily, member 1|
|Synonyms||Kv3.1, C230009H10Rik, Kcr2-1, KShIIIB, NGK2, KV4, Shaw|
|Is this an essential gene?||Possibly non essential (E-score: 0.320)|
|Stock #||R1487 (G1)|
|Chromosomal Location||46396497-46438704 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||T to C at 46435348 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000124938 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025202] [ENSMUST00000160433]|
|Predicted Effect||probably benign
|Predicted Effect||probably null
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnc1||
(F):5'- TTCCAAACTGAATGGGGAGGTGGC -3'
(R):5'- ACCCCTTGGCTTGGGATTACAGAC -3'
(F):5'- GAAGACTGCCCCCACATAGA -3'
(R):5'- TGGGATTACAGACCGTGGC -3'