Stom - SNV Details



 Gene Information 
Gene Name Stom
Old Gene Names for Stom Epb7.2
Gene Description stomatin [Source:MGI Symbol;Acc:MGI:95403]
MGI phenotype Homozygotes for a targeted null mutation lack the protein but appear phenotypically normal.
Uniprot Name
CCDS Name
Gene GO
melanosome; cytoplasm; membrane raft; integral to plasma membrane; protein binding; cytoskeleton; protein homooligomerization
Homolog in other species STOM
Immgen Expression
LOW(HIGH IN MYELOID GOUP, DC8+.TH, DC.LC.SK)
Gnf Expression
HIGH(HIGHER IN IMM GROUPS, OESTEO GROUP, EPITH GROUP, BLADDER, UTERUS, OVARY, LUNG, TRACHEA AND ADIPOSETISSUE, PROSTATE, UMBLICALCORD)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026880
Chromosome 2
Coordinate 35,320,389     (Assembly: GRCm38)    
Ref Base A
Codon Change gTg/gAg
Var Base T
Zygosity Heterozygous
Read Depth 27
Allele Frequency
A:R0.48
T:V0.52
Amino Acid Position 201
Amino Acid Change V->E (Valine -> Glutamic acid)
Sample ID IGL02103
Median Base Quality 34
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 
Polyphen Score 0.26
Polyphen Prediction Benign
Sift Score 0.72
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved