Tmtc1 - SNV Details



 Gene Information 
Gene Name Tmtc1
Old Gene Names for Tmtc1 Bc023818
Gene Description transmembrane and tetratricopeptide repeat containing 1 [Source:MGI Symbol;Acc:MGI:3039590]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; integral to membrane; intracellular; protein binding; biological_process; RNA processing; molecular_function
Homolog in other species TMTC1
Immgen Expression
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030306
Chromosome 6
Coordinate 148,443,944     (Assembly: GRCm38)    
Ref Base T
Var Base G
Zygosity Heterozygous
Read Depth 18
Allele Frequency
T:R0.56
G:V0.44
Amino Acid Change T->P (Threonine -> Proline)
Sample ID IGL00990
Median Base Quality 31
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 151 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved