|Institutional Source||Beutler Lab|
|Gene Name||sodium channel, voltage-gated, type VII, alpha|
|Synonyms||NaG, Nav2, Nav2.3, Nax, Scn6a|
|Is this an essential gene?||Possibly non essential (E-score: 0.271)|
|Stock #||R1237 (G1)|
|Chromosomal Location||66673425-66784914 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 66680295 bp|
|Amino Acid Change||Asparagine to Lysine at position 1254 (N1254K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042405 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042792]|
|Predicted Effect||probably damaging
AA Change: N1254K
PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: N1254K
|Meta Mutation Damage Score||0.118|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene have a modified dietary preference for NaCl but are phenotypically normal otherwise. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Scn7a||
(F):5'- GCAGTGAGCTTCAGTATGCATTCCAG -3'
(R):5'- ACCCCGCCCCAGAGTAAGAAAATATTAT -3'
(F):5'- CAGTATGCATTCCAGAGTGAAC -3'
(R):5'- ggaagtagaggcagtagtatcag -3'