Mtor - SNV Details

 Gene Information 
Gene Name Mtor
Old Gene Names for Mtor 2610315d21rik , Ai327068 , Frap1
Gene Description mechanistic target of rapamycin (serine/threonine kinase) [Source:MGI Symbol;Acc:MGI:1928394]
MGI phenotype Mice homozygous for a null allele exhibit embryonic lethality by E12.5 due to abnormal embryogenesis. Mice homozygous for an ENU mutation exhibit embryonic lethality by E12.5 with abnormal embryogenesis and brain development. Mice homozygous for a gene trap allele exhibit abnormal embryogenesis.
Uniprot Name
Gene GO
TOR signaling cascade; mTOR-FKBP12-rapamycin complex; regulation of response to food; membrane; protein autophosphorylation; regulation of fatty acid beta-oxidation; Golgi membrane; positive regulation of actin filament polymerization; mitochondrial outer membrane; cellular response to nutrient levels; drug binding; positive regulation of protein kinase B signaling cascade; endomembrane system; cytoplasm; positive regulation of protein phosphorylation; kinase activity; germ cell development; positive regulation of translation; regulation of carbohydrate utilization; endoplasmic reticulum membrane; negative regulation of macroautophagy; positive regulation of lamellipodium assembly; regulation of glycogen biosynthetic process; phosphoprotein binding; transferase activity
transferring phosphorus-containing groups; phosphorylation; lysosome; protein binding; negative regulation of NFAT protein import into nucleus; peptidyl-threonine phosphorylation; positive regulation of endothelial cell proliferation; RNA polymerase III type 3 promoter DNA binding; neuronal cell body; positive regulation of myotube differentiation; peptidyl-serine phosphorylation; binding; response to amino acid stimulus; TFIIIC-class transcription factor binding; negative regulation of cell size; PML body; nucleus; negative regulation of autophagy; regulation of actin cytoskeleton organization; ruffle organization; cytosol; cellular response to hypoxia; TORC2 complex; regulation of carbohydrate metabolic process; RNA polymerase III type 2 promoter DNA binding; protein domain specific binding; phosphotransferase activity
alcohol group as acceptor; regulation of protein kinase activity; positive regulation of peptidyl-tyrosine phosphorylation; protein phosphorylation; regulation of Rac GTPase activity; positive regulation of lipid biosynthetic process; ribosome binding; ATP binding; TORC1 complex; dendrite; response to insulin stimulus; positive regulation of transcription from RNA polymerase III promoter; protein serine/threonine kinase activity; positive regulation of stress fiber assembly; RNA polymerase III type 1 promoter DNA binding; cell projection organization
Homolog in other species MTOR
Immgen Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028991
Chromosome 4
Coordinate 148,484,654     (Assembly: GRCm38)    
Ref Base A
Codon Change Aca/Gca
Var Base G
Zygosity Heterozygous
Read Depth 67
Allele Frequency
Amino Acid Position 1143
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL01675
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 16 Other Mutations

Polyphen Score 0
Polyphen Prediction Benign
Sift Score 1
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Armadillo-type fold ARM-type_fold IPR016024 ENSMUSP00000099510 Superfamily 361
1517 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved