Incidental Mutation 'IGL01417:Edem2'
ID |
80433 |
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)
|
Stock # |
IGL01417
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
155543597-155571395 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 155570898 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 44
(Y44C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041202
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040833]
|
AlphaFold |
Q8BJT9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040833
AA Change: Y44C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000041202 Gene: ENSMUSG00000038312 AA Change: Y44C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_47
|
42 |
482 |
8.3e-118 |
PFAM |
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa13 |
T |
A |
15: 58,228,043 (GRCm39) |
|
noncoding transcript |
Het |
Ctdsp2 |
T |
C |
10: 126,829,743 (GRCm39) |
I125T |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,623,759 (GRCm39) |
K1044E |
probably benign |
Het |
Elmo1 |
T |
C |
13: 20,435,345 (GRCm39) |
|
probably null |
Het |
Flnb |
T |
C |
14: 7,905,513 (GRCm38) |
S1088P |
probably damaging |
Het |
Fmnl1 |
A |
G |
11: 103,087,520 (GRCm39) |
|
probably benign |
Het |
Fv1 |
T |
A |
4: 147,953,786 (GRCm39) |
C117* |
probably null |
Het |
Hmcn1 |
T |
C |
1: 150,734,990 (GRCm39) |
D174G |
probably damaging |
Het |
Htatip2 |
G |
A |
7: 49,420,573 (GRCm39) |
V140I |
possibly damaging |
Het |
Mill1 |
G |
T |
7: 17,998,708 (GRCm39) |
R306L |
probably benign |
Het |
Myoz2 |
G |
A |
3: 122,800,081 (GRCm39) |
T249I |
possibly damaging |
Het |
Nrdc |
T |
C |
4: 108,858,027 (GRCm39) |
|
probably benign |
Het |
Or2r3 |
T |
A |
6: 42,449,046 (GRCm39) |
H22L |
probably benign |
Het |
Pcbp1 |
T |
C |
6: 86,502,836 (GRCm39) |
H21R |
probably damaging |
Het |
Pdcd2l |
A |
C |
7: 33,892,170 (GRCm39) |
L221R |
probably damaging |
Het |
Ppp1r3b |
A |
G |
8: 35,851,566 (GRCm39) |
E135G |
probably damaging |
Het |
Rbsn |
T |
C |
6: 92,184,100 (GRCm39) |
E71G |
possibly damaging |
Het |
Shc3 |
T |
C |
13: 51,585,200 (GRCm39) |
R472G |
probably benign |
Het |
Sox8 |
A |
C |
17: 25,786,502 (GRCm39) |
|
probably null |
Het |
Tacr3 |
G |
T |
3: 134,535,242 (GRCm39) |
W70L |
possibly damaging |
Het |
Tacr3 |
A |
T |
3: 134,535,307 (GRCm39) |
I92F |
possibly damaging |
Het |
Ubr4 |
A |
G |
4: 139,138,111 (GRCm39) |
N1156S |
probably damaging |
Het |
Upk3b |
T |
C |
5: 136,067,920 (GRCm39) |
I37T |
possibly damaging |
Het |
Vmn1r35 |
T |
A |
6: 66,656,191 (GRCm39) |
I160F |
probably benign |
Het |
Vps50 |
T |
C |
6: 3,522,377 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Edem2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01141:Edem2
|
APN |
2 |
155,550,948 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02043:Edem2
|
APN |
2 |
155,547,661 (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 |
2013-11-05 |