Dicer1 - SNV Details

 Human Rare Diseases 
Ovarian malignant Sertoli-Leydig cell tumor
Pleuropulmonary blastoma family tumor susceptibility syndrome
Familial multinodular goiter

 Gene Information 
Gene Name Dicer1
Old Gene Names for Dicer1 D12ertd7e , 1110006f08rik
Gene Description dicer 1, ribonuclease type III [Source:MGI Symbol;Acc:MGI:2177178]
MGI phenotype Mutation of this locus results in arrest of early embryonic development.
Uniprot Name
Gene GO
tRNA processing; spindle assembly; production of miRNAs involved in gene silencing by miRNA; positive regulation of myelination; helicase activity; ribonuclease III activity; regulation of oligodendrocyte differentiation; RNA binding; apoptotic process; positive regulation of transcription from RNA polymerase II promoter; hydrolase activity; regulation of cell cycle; positive regulation of miRNA metabolic process; cytoplasm; regulation of myelination; cell proliferation; metal ion binding; ATP-dependent helicase activity; negative regulation of apoptotic process; stem cell maintenance; hair follicle morphogenesis; regulation of viral genome replication; intracellular; regulation of odontogenesis of dentin-containing tooth; epidermis morphogenesis; DNA binding; regulation of neurogenesis; branching morphogenesis of a tube; regulation of gene expression; angiogenesis; RNA-induced silencing complex; protein binding; miRNA binding; zygote asymmetric cell division; pre-miRNA processing; regulation of cell differentiation; production of siRNA involved in RNA interference; intestinal epithelial cell development; rRNA catabolic process; spleen development; post-embryonic development; multicellular organism growth; endoribonuclease activity
producing 5'-phosphomonoesters; rRNA binding; embryonic limb morphogenesis; regulation of enamel mineralization; digestive tract development; cardiac muscle cell development; lung development; cerebral cortex development; targeting of mRNA for destruction involved in RNA interference; hair follicle development; hair follicle cell proliferation; regulation of neuron differentiation; negative regulation of transcription from RNA polymerase II promoter; nucleic acid binding; defense response to virus; double-stranded RNA binding; inner ear receptor cell development; embryonic hindlimb morphogenesis; ATP binding; rRNA processing; mRNA processing; regulation of apoptotic process; RNA processing; positive regulation of gene expression; olfactory bulb interneuron differentiation; spinal cord motor neuron differentiation
Homolog in other species DICER1
Omim http://omim.org/entry/606241
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000041415
Chromosome 12
Coordinate 104,706,327     (Assembly: GRCm38)    
Ref Base A
Codon Change aTg/aAg
Var Base T
Zygosity Heterozygous
Read Depth 30
Allele Frequency
Amino Acid Position 887
Amino Acid Change M->K (Methionine -> Lysine)
Sample ID IGL01061
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

Sift Score 0
Sift Prediction deleterious

 Protein domains 
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Argonaute/Dicer protein, PAZ domain PAZ IPR003100 ENSMUSP00000043676 Prosite_profiles 881
1032 Description available Search pathways
Argonaute/Dicer protein, PAZ domain PAZ IPR003100 ENSMUSP00000043676 Smart 881
1056 Description available Search pathways
Argonaute/Dicer protein, PAZ domain PAZ IPR003100 ENSMUSP00000043676 Pfam 884
1054 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved