Ltn1 - SNV Details



 Gene Information 
Gene Name Ltn1
Old Gene Names for Ltn1 Zfp294 , Rnf160 , 4930528h02rik , Av266914 , C87237
Gene Description listerin E3 ubiquitin protein ligase 1 [Source:MGI Symbol;Acc:MGI:1926163]
MGI phenotype Mice homozygous for a gene trap allele display embryonic lethality. Mice homozygous for a point mutation display progressive neuron degeneration and age dependent motor deficits.
Uniprot Name
CCDS Name
Gene GO
cell death; ubiquitin-protein transferase activity; metal ion binding; zinc ion binding; protein binding; binding; cellular_component; protein autoubiquitination; ligase activity
Homolog in other species LTN1
Omim http://omim.org/entry/613083
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000052299
Chromosome 16
Coordinate 87,415,944     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 25
Allele Frequency
A:R0.60
T:V0.40
Amino Acid Change N->K (Asparagine -> Lysine)
Sample ID IGL03128
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 29 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved