Trim54 - SNV Details



 Gene Information 
Gene Name Trim54
Old Gene Names for Trim54 4930566i02rik , Rnf30
Gene Description tripartite motif-containing 54 [Source:MGI Symbol;Acc:MGI:1889623]
MGI phenotype Mice homozygous for a knock-out allele exhibit normal cardiac function but are prone to cardiac rupture after acute myocardial infarction.
Uniprot Name
CCDS Name
Gene GO
cell differentiation; chorismate metabolic process; intracellular; microtubule; zinc ion binding; microtubule binding; protein binding; negative regulation of microtubule depolymerization; Z disc; microtubule associated complex; multicellular organismal development
Homolog in other species TRIM54
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN RETINA, SPINALCORDLOWER, SPINALCORDUPPER, C2C12, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G2, TRACHEA, PROSTATE)
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000062077
Chromosome 5
Coordinate 31,132,165     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 41
Allele Frequency
T:R0.46
A:V0.54
Amino Acid Change Disrupted splicing
Splice Position 6
Sample ID IGL02545
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved