Tnpo3 - SNV Details



 Human Rare Diseases 
Autosomal dominant limb-girdle muscular dystrophy type 1F
Primary biliary cirrhosis

 Gene Information 
Gene Name Tnpo3
Old Gene Names for Tnpo3 D6ertd313e , 5730544l10rik , C430013m08rik , C81142
Gene Description transportin 3 [Source:MGI Symbol;Acc:MGI:1196412]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; splicing factor protein import into nucleus; intracellular membrane-bounded organelle; protein binding; binding; nucleus; molecular_function
Homolog in other species TNPO3
Omim http://omim.org/entry/610032
Immgen Expression
HIGH
Gnf Expression
MEDIAN
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000012535
Chromosome 6
Coordinate 29,555,182     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 21
Allele Frequency
C:R0.57
A:V0.43
Amino Acid Change D->Y (Aspartic acid -> Tyrosine)
Sample ID IGL03409
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved