Edem1 - SNV Details



 Gene Information 
Gene Name Edem1
Gene Description ER degradation enhancer, mannosidase alpha-like 1 [Source:MGI Symbol;Acc:MGI:2180139]
Uniprot Name
CCDS Name
Gene GO
2-alpha-mannosidase activity
ER-associated protein catabolic process
calcium ion binding
endoplasmic reticulum
endoplasmic reticulum membrane
integral to endoplasmic reticulum membrane
integral to membrane
mannosyl-oligosaccharide 1
membrane
misfolded protein binding
protein binding
Homolog in other species EDEM1
Immgen Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030104
Chromosome 6
Coordinate 108,841,601     (Assembly: GRCm38)    
Ref Base T
Codon Change aTa/aCa
Var Base C
Zygosity Heterozygous
Read Depth 24
Allele Frequency
T:0.62
C:0.38
Amino Acid Position 190
Amino Acid Change I->T (Isoleucine -> Threonine)
Sample ID IGL00694
Median Base Quality 39.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 26 Other Mutations

 Predictions 
Polyphen Score 0.97
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000086565:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Glycoside hydrolase, family 47 Glyco_hydro_47 IPR001382 ENSMUSP00000086565 Superfamily 121
598 Description available Search pathways
Glycoside hydrolase, family 47 Glyco_hydro_47 IPR001382 ENSMUSP00000086565 Prints 178
192 Description available Search pathways
Glycoside hydrolase, family 47 Glyco_hydro_47 IPR001382 ENSMUSP00000086565 Pfam 132
580 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved