|Institutional Source||Beutler Lab|
|Gene Name||sodium channel, voltage-gated, type X, alpha|
|Is this an essential gene?||Possibly non essential (E-score: 0.260)|
|Stock #||R8319 (G1)|
|Chromosomal Location||119608456-119719322 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 119670389 bp|
|Amino Acid Change||Asparagine to Lysine at position 279 (N279K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081845 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084787]|
|Predicted Effect||probably benign
AA Change: N279K
PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: N279K
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired perception of pain. Mice homozygous or heterozygous for an ENU-induced allele exhibit a catalepsy phenotype following scruffing and increased sensitivity to cold pain. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Scn10a||
(F):5'- AAGACCTTGCTTGTTTAGAGCTTG -3'
(R):5'- ATGACAGCCAGCGTGTACAC -3'
(F):5'- AGAGCTTGTTAAACTTCCCCTG -3'
(R):5'- ACTTCACCATTCGGGAGCATG -3'