Incidental Mutation 'IGL02043:Edem2'
ID 184837
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Edem2
Ensembl Gene ENSMUSG00000038312
Gene Name ER degradation enhancer, mannosidase alpha-like 2
Synonyms 9530090G24Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.887) question?
Stock # IGL02043
Quality Score
Status
Chromosome 2
Chromosomal Location 155543597-155571395 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155547661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 384 (T384A)
Ref Sequence ENSEMBL: ENSMUSP00000041202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040833]
AlphaFold Q8BJT9
Predicted Effect probably damaging
Transcript: ENSMUST00000040833
AA Change: T384A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041202
Gene: ENSMUSG00000038312
AA Change: T384A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Glyco_hydro_47 42 482 8.3e-118 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148571
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1b2 T C 11: 69,496,102 (GRCm39) T33A probably benign Het
Brd2 A T 17: 34,331,590 (GRCm39) probably benign Het
Carmil1 T C 13: 24,208,299 (GRCm39) probably benign Het
Cdh9 A T 15: 16,856,318 (GRCm39) D786V probably damaging Het
Cep128 A C 12: 91,233,504 (GRCm39) probably benign Het
Cep85 T C 4: 133,883,038 (GRCm39) T284A probably benign Het
Chrna1 C T 2: 73,398,450 (GRCm39) E330K probably benign Het
Clec2l T C 6: 38,653,785 (GRCm39) Y104H probably damaging Het
Clybl G T 14: 122,616,664 (GRCm39) K226N probably damaging Het
Cmip T A 8: 118,172,067 (GRCm39) D467E probably benign Het
Cpne3 A T 4: 19,543,340 (GRCm39) probably null Het
Crisp4 A G 1: 18,204,324 (GRCm39) V46A probably damaging Het
Csnk2a1 T C 2: 152,116,070 (GRCm39) Y261H probably damaging Het
Cul5 C A 9: 53,569,973 (GRCm39) G86V probably benign Het
Czib T G 4: 107,752,065 (GRCm39) probably benign Het
Depdc7 T C 2: 104,560,626 (GRCm39) T123A probably benign Het
F8 C T X: 74,376,247 (GRCm39) M377I probably benign Het
Fan1 T A 7: 64,021,367 (GRCm39) probably null Het
Fez2 T C 17: 78,689,051 (GRCm39) D366G probably damaging Het
Gm4841 A C 18: 60,404,037 (GRCm39) S19A probably benign Het
Gm4862 T A 3: 138,834,396 (GRCm39) noncoding transcript Het
Hk3 T A 13: 55,162,908 (GRCm39) Q44L probably damaging Het
Irgm1 C A 11: 48,757,642 (GRCm39) L56F probably damaging Het
Ldlr A G 9: 21,644,795 (GRCm39) T108A probably benign Het
Lgr4 T A 2: 109,841,635 (GRCm39) M516K probably damaging Het
Lrp1b T C 2: 40,587,537 (GRCm39) N3906S probably null Het
Lrrtm4 A G 6: 79,998,845 (GRCm39) N86D possibly damaging Het
Map3k2 A G 18: 32,340,587 (GRCm39) D198G probably damaging Het
Mapkapk3 C T 9: 107,139,621 (GRCm39) probably null Het
Mvp A T 7: 126,592,790 (GRCm39) Y374N probably damaging Het
Myo3a T C 2: 22,404,776 (GRCm39) S711P probably benign Het
Myom3 A G 4: 135,497,986 (GRCm39) K189E probably damaging Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Nlrp10 T C 7: 108,524,709 (GRCm39) E257G probably damaging Het
Nptn T G 9: 58,548,012 (GRCm39) M139R possibly damaging Het
Nrk T G X: 137,889,544 (GRCm39) M1105R possibly damaging Het
Or10a3n A T 7: 108,493,046 (GRCm39) C189* probably null Het
Or10d4 T G 9: 39,580,374 (GRCm39) V7G probably damaging Het
Or1q1 T A 2: 36,887,477 (GRCm39) Y218* probably null Het
Pcdhb16 A G 18: 37,612,248 (GRCm39) T403A probably benign Het
Pcyt1b A G X: 92,745,722 (GRCm39) E50G possibly damaging Het
Pigg C T 5: 108,492,190 (GRCm39) T892I probably damaging Het
Ppig T G 2: 69,566,327 (GRCm39) probably null Het
Prr12 A G 7: 44,699,429 (GRCm39) probably benign Het
Slc5a5 G T 8: 71,345,073 (GRCm39) A78E possibly damaging Het
Slc7a2 T G 8: 41,364,095 (GRCm39) M436R probably benign Het
Sp7 T A 15: 102,267,690 (GRCm39) M39L probably benign Het
Spag8 T A 4: 43,653,134 (GRCm39) probably benign Het
Svep1 A G 4: 58,068,556 (GRCm39) S3077P probably benign Het
Tmem30a A T 9: 79,681,371 (GRCm39) probably benign Het
Tmem63a C T 1: 180,800,353 (GRCm39) T714I probably benign Het
Trank1 T C 9: 111,193,028 (GRCm39) L535P probably damaging Het
Tuba8 A C 6: 121,197,470 (GRCm39) N44T probably benign Het
Wnk1 A G 6: 119,926,039 (GRCm39) probably benign Het
Zfp654 A T 16: 64,605,391 (GRCm39) I396K probably benign Het
Other mutations in Edem2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Edem2 APN 2 155,550,948 (GRCm39) missense probably benign 0.01
IGL01417:Edem2 APN 2 155,570,898 (GRCm39) missense probably damaging 1.00
IGL02403:Edem2 APN 2 155,550,983 (GRCm39) missense possibly damaging 0.81
R0488:Edem2 UTSW 2 155,558,043 (GRCm39) missense probably damaging 1.00
R1312:Edem2 UTSW 2 155,544,505 (GRCm39) missense probably damaging 0.99
R1547:Edem2 UTSW 2 155,564,436 (GRCm39) missense probably damaging 1.00
R2092:Edem2 UTSW 2 155,550,969 (GRCm39) missense probably benign 0.03
R2114:Edem2 UTSW 2 155,544,479 (GRCm39) missense probably damaging 1.00
R2250:Edem2 UTSW 2 155,552,893 (GRCm39) splice site probably null
R2268:Edem2 UTSW 2 155,544,137 (GRCm39) missense probably benign
R2287:Edem2 UTSW 2 155,555,279 (GRCm39) missense probably benign
R2919:Edem2 UTSW 2 155,550,947 (GRCm39) missense probably damaging 1.00
R4730:Edem2 UTSW 2 155,547,618 (GRCm39) missense possibly damaging 0.96
R4806:Edem2 UTSW 2 155,570,913 (GRCm39) missense possibly damaging 0.56
R5574:Edem2 UTSW 2 155,558,075 (GRCm39) missense probably damaging 1.00
R6714:Edem2 UTSW 2 155,570,809 (GRCm39) critical splice donor site probably null
R6913:Edem2 UTSW 2 155,568,594 (GRCm39) missense probably damaging 1.00
R7016:Edem2 UTSW 2 155,557,992 (GRCm39) missense possibly damaging 0.77
R7234:Edem2 UTSW 2 155,552,886 (GRCm39) missense probably benign 0.19
R8063:Edem2 UTSW 2 155,544,376 (GRCm39) missense probably benign 0.00
R9072:Edem2 UTSW 2 155,571,212 (GRCm39) missense unknown
Posted On 2014-05-07