|Institutional Source||Beutler Lab|
|Gene Name||sodium channel, nonvoltage-gated 1 gamma|
|Is this an essential gene?||Possibly essential (E-score: 0.639)|
|Stock #||R4805 (G1)|
|Chromosomal Location||121734479-121768475 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 121746602 bp|
|Amino Acid Change||Leucine to Serine at position 316 (L316S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000221 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000221]|
|Predicted Effect||probably damaging
AA Change: L316S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L316S
|Meta Mutation Damage Score||0.9424|
|Coding Region Coverage||
|Validation Efficiency||99% (69/70)|
FUNCTION: This gene encodes the gamma subunit of the epithelial sodium channel, a member of the amiloride-sensitive sodium channel family of proteins. This channel regulates sodium homeostasis and blood pressure, by controlling sodium transport in the kidney, colon and lung. Proteolytic processing of the encoded protein results in the release of an inhibitory peptide and channel activation. Homozygous knockout mice for this gene exhibit perinatal lethality, likely due to excess serum potassium. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in partial lethality between 24-36 hours after birth. Newborns exhibit hyperkalemia, clear lung liquid more slowly, and show low urinary potassium and high urinary sodium concentrations. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Scnn1g||
(F):5'- CACCGTGACTGTGATGTGTG -3'
(R):5'- CAAGCCAGTGAGTCTTCTCTTAC -3'
(F):5'- GTGTGTGAACCACTACTTTGAACTCG -3'
(R):5'- CTTACCAGGTGCATTCCTATGGAAG -3'