Mpst - SNV Details



 Human Rare Diseases 
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria

 Gene Information 
Gene Name Mpst
Gene Description mercaptopyruvate sulfurtransferase [Source:MGI Symbol;Acc:MGI:2179733]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; thiosulfate sulfurtransferase activity; cytoplasm; mitochondrial inner membrane; biological_process; molecular_function
Homolog in other species MPST
Omim http://omim.org/entry/602496
Immgen Expression
MEDIAN(HIGHER IN MYELOID GROUP, TGD.VG5+.ACT.IEL)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000071711
Chromosome 15
Coordinate 78,410,085     (Assembly: GRCm38)    
Ref Base C
Codon Change Ctt/Ttt
Var Base T
Zygosity Heterozygous
Read Depth 27
Allele Frequency
C:R0.48
T:V0.52
Amino Acid Position 6
Amino Acid Change L->F (Leucine -> Phenylalanine)
Sample ID IGL02353
Median Base Quality 35
Backgrounds C57BL/6j
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.03
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000130493:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Rhodanese-like domain Rhodanese-like_dom IPR001763 ENSMUSP00000130493 Superfamily 2
163 Description available Search pathways

 Availability Details 
Availability Cryopreserved