Tsfm - SNV Details



 Human Rare Diseases 
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3

 Gene Information 
Gene Name Tsfm
Old Gene Names for Tsfm 2310050b20rik , 9430024o13rik
Gene Description Ts translation elongation factor, mitochondrial [Source:MGI Symbol;Acc:MGI:1913649]
Uniprot Name
CCDS Name
Gene GO
biological_process
intracellular
mitochondrion
molecular_function
protein binding
translation elongation factor activity
translational elongation
Homolog in other species TSFM
Omim http://omim.org/entry/604723
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000040521
Chromosome 10
Coordinate 127,028,442     (Assembly: GRCm38)    
Ref Base G
Codon Change Cag/Tag
Var Base A
Zygosity Heterozygous
Read Depth 21
Allele Frequency
G:0.52
A:0.48
Amino Acid Position 135
Amino Acid Change Q->Stop (Glutamine -> Stop)
Sample ID IGL00678
Median Base Quality 41
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 15 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Protein domains 
ENSMUSP00000042134:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Translation elongation factor EFTs/EF1B, dimerisation Transl_elong_EFTs/EF1B_dimer IPR014039 ENSMUSP00000042134 Superfamily 98
208 Description available Search pathways
Translation elongation factor EFTs/EF1B, dimerisation Transl_elong_EFTs/EF1B_dimer IPR014039 ENSMUSP00000042134 Pfam 101
270 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved