Scnn1b - SNV Details



 Human Rare Diseases 
Idiopathic bronchiectasis
Liddle syndrome
Generalized pseudohypoaldosteronism type 1

 Gene Information 
Gene Name Scnn1b
Gene Description sodium channel, nonvoltage-gated 1 beta [Source:MGI Symbol;Acc:MGI:104696]
MGI phenotype Homozygous mutation of this gene results in death shortly after birth, decreased serum sodium levels but higher urine sodium levels and increased serum potassium and chloride levels but lower potassium urine levels. Another homozygous mutation exhibits no abnormal phenotype.
Uniprot Name
CCDS Name
Gene GO
WW domain binding; membrane; integral to membrane; sodium ion transmembrane transport; apical plasma membrane; wound healing
spreading of epidermal cells; sodium channel activity; regulation of sodium ion transport; sodium channel complex; sensory perception of taste; external side of plasma membrane; response to hypoxia; protein binding; ligand-gated sodium channel activity; sodium ion transport
Homolog in other species SCNN1B
Omim http://omim.org/entry/600760
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030873
Chromosome 7
Coordinate 121,917,547     (Assembly: GRCm38)    
Ref Base G
Codon Change cGt/cAt
Var Base A
Zygosity Heterozygous
Read Depth 62
Allele Frequency
G:R0.42
A:V0.58
Amino Acid Position 503
Amino Acid Change R->H (Arginine -> Histidine)
Sample ID IGL02355
Median Base Quality 38
Backgrounds C57BL/6j
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000033161:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Epithelial sodium channel EnaC IPR004724 ENSMUSP00000033161 TIGRfam 21
621 Description available Search pathways
Na+ channel, amiloride-sensitive Na+channel_ASC IPR001873 ENSMUSP00000033161 Pfam 29
539 Description available Search pathways

 Availability Details 
Availability Cryopreserved