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; zinc ion binding; ubiquitin-protein ligase activity; protein binding; binding; cellular_component; protein autoubiquitination
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 87,416,009     (Assembly: GRCm38)    
Ref Base A
Codon Change Tcc/Ccc
Var Base G
Zygosity Heterozygous
Read Depth 25
Allele Frequency
A:R0.56
G:V0.44
Amino Acid Position 555
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL01139
Median Base Quality 36
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.27
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000038775:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Armadillo-type fold ARM-type_fold IPR016024 ENSMUSP00000038775 Superfamily 61
1417 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved