Slc12a1 - SNV Details



 Human Rare Diseases 
Antenatal Bartter syndrome

 Gene Information 
Gene Name Slc12a1
Old Gene Names for Slc12a1 Ai788571 , D630042g03rik
Gene Description solute carrier family 12, member 1 [Source:MGI Symbol;Acc:MGI:103150]
MGI phenotype Mice homozygous for disruptions in this gene do not survive to weaning and suffer from various metabolic abnormalities related to kidney function. Mice homozygous for an ENU-induced allele exhibit kidney disease, impaired urinary excretion of metabolism products, polyuria, and kidney alterations.
Uniprot Name
CCDS Name
Gene GO
membrane; integral to membrane; apical plasma membrane; excretion; protein binding; kidney development; chemical homeostasis; transport; ion transport; cation:chloride symporter activity; sodium:potassium:chloride symporter activity; transmembrane transport; potassium ion transport; sodium ion transport
Homolog in other species SLC12A1
Omim http://omim.org/entry/600839
Immgen Expression
LOW
Gnf Expression
MEDIAN
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, BLASTOCYSTS, GI GROUP)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000027202
Chromosome 2
Coordinate 125,178,149     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 23
Allele Frequency
A:R0.52
G:V0.48
Amino Acid Change Disrupted splicing
Splice Position 6
Sample ID IGL01677
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved