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
apical plasma membrane
cation:chloride symporter activity
chemical homeostasis
chloride transport
excretion
integral to membrane
ion transmembrane transport
ion transmembrane transporter activity
ion transport
kidney development
membrane
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 Non-synonymous
Ensembl ID ENSMUSG00000027202
Chromosome 2
Coordinate 125,188,238     (Assembly: GRCm38)    
Ref Base T
Codon Change Tgt/Agt
Var Base A
Zygosity Heterozygous
Read Depth 19
Allele Frequency
T:0.53
A:0.47
Amino Acid Position 577
Amino Acid Change C->S (Cysteine -> Serine)
Sample ID IGL00845
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 18 Other Mutations

 Predictions 
Polyphen Score 0.09
Polyphen Prediction Benign
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved