Arsb - SNV Details



 Human Rare Diseases 
Mucopolysaccharidosis type 6, rapidly progressing
Mucopolysaccharidosis type 6, slowly progressing

 Gene Information 
Gene Name Arsb
Old Gene Names for Arsb As-1r , As1-r , 1110007c02rik , Ai480648 , As-1s , As1 , As-1 , As-1t , Asr-1 , Ast-1 , As1-t , As1-s
Gene Description arylsulfatase B [Source:MGI Symbol;Acc:MGI:88075]
MGI phenotype Homozygous mutation of this gene results in development of shortened limbs and snout and a broadened head after 4 weeks of age. Mutant animals have elevated concentrations of glucosaminoglycans in the urine and irregular cartilage structure.
Uniprot Name
CCDS Name
Gene GO
mitochondrion; response to estrogen stimulus; response to methylmercury; rough endoplasmic reticulum; catalytic activity; metal ion binding; arylsulfatase activity; response to pH; N-acetylgalactosamine-4-sulfatase activity; metabolic process; lysosome; autophagy; central nervous system development; response to nutrient; Golgi apparatus; sulfuric ester hydrolase activity
Homolog in other species ARSB
Omim http://omim.org/entry/611542
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, T.4MEM.SP)
MEDIAN(HIGH IN TGD GROUP, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, T.4MEM.SP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000042082
Chromosome 13
Coordinate 93,807,598     (Assembly: GRCm38)    
Ref Base A
Codon Change Att/Gtt
Var Base G
Zygosity Heterozygous
Read Depth 49
Allele Frequency
A:R0.35
G:V0.65
Amino Acid Position 266
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL01560
Median Base Quality 39
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.51
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000088964:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Alkaline-phosphatase-like, core domain Alkaline_phosphatase_core IPR017850 ENSMUSP00000088964 Superfamily 44
534 Description available Search pathways
Sulfatase Sulfatase IPR000917 ENSMUSP00000088964 Pfam 46
487 Description available Search pathways

 Availability Details 
Availability Cryopreserved