Incidental Mutation 'R1312:Edem2'
| ID |
157956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Edem2
|
| Ensembl Gene |
ENSMUSG00000038312 |
| Gene Name |
ER degradation enhancer, mannosidase alpha-like 2 |
| Synonyms |
9530090G24Rik |
| MMRRC Submission |
039378-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.887)
|
| Stock # |
R1312 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155543597-155571395 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 155544505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 415
(D415A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040833]
|
| AlphaFold |
Q8BJT9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040833
AA Change: D415A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041202
Gene: ENSMUSG00000038312
AA Change: D415A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_47
|
42 |
482 |
8.3e-118 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148571
|
| Meta Mutation Damage Score |
0.8933 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 85.7%
|
| Validation Efficiency |
98% (41/42) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
A |
T |
4: 103,127,994 (GRCm39) |
F44I |
probably damaging |
Het |
| Acot10 |
A |
G |
15: 20,666,585 (GRCm39) |
V52A |
probably benign |
Het |
| Arhgap32 |
T |
C |
9: 32,166,608 (GRCm39) |
V415A |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,767,625 (GRCm39) |
D750G |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,188 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
A |
G |
11: 29,781,219 (GRCm39) |
|
probably benign |
Het |
| Ercc5 |
T |
C |
1: 44,203,179 (GRCm39) |
F272S |
probably damaging |
Het |
| Fcamr |
C |
T |
1: 130,739,224 (GRCm39) |
R175C |
probably damaging |
Het |
| Frem3 |
G |
A |
8: 81,341,951 (GRCm39) |
V1415I |
probably benign |
Het |
| Fry |
T |
C |
5: 150,326,897 (GRCm39) |
|
probably benign |
Het |
| Gm14443 |
A |
T |
2: 175,013,383 (GRCm39) |
|
probably benign |
Het |
| Ift70a2 |
A |
T |
2: 75,806,676 (GRCm39) |
V612D |
probably benign |
Het |
| Insrr |
A |
G |
3: 87,707,797 (GRCm39) |
T80A |
probably damaging |
Het |
| Itih2 |
T |
A |
2: 10,102,735 (GRCm39) |
T800S |
probably benign |
Het |
| Lgals9 |
G |
A |
11: 78,867,443 (GRCm39) |
Q42* |
probably null |
Het |
| Lrrk2 |
A |
G |
15: 91,584,098 (GRCm39) |
N286S |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,526,398 (GRCm39) |
|
probably benign |
Het |
| Mkx |
T |
A |
18: 6,937,192 (GRCm39) |
D284V |
probably benign |
Het |
| Mtrex |
A |
C |
13: 113,019,785 (GRCm39) |
L775* |
probably null |
Het |
| Or11g27 |
T |
A |
14: 50,771,652 (GRCm39) |
I261K |
probably benign |
Het |
| Pde1b |
T |
G |
15: 103,434,700 (GRCm39) |
S339A |
possibly damaging |
Het |
| Plch2 |
C |
T |
4: 155,074,256 (GRCm39) |
V765M |
probably damaging |
Het |
| Ppp4r3b |
A |
T |
11: 29,123,358 (GRCm39) |
Q18L |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,757,687 (GRCm39) |
|
probably null |
Het |
| Pwp1 |
G |
A |
10: 85,715,173 (GRCm39) |
D220N |
probably damaging |
Het |
| Rel |
G |
A |
11: 23,707,010 (GRCm39) |
T64I |
probably damaging |
Het |
| Rho |
C |
G |
6: 115,912,566 (GRCm39) |
N160K |
probably damaging |
Het |
| Sntb2 |
A |
G |
8: 107,728,209 (GRCm39) |
T386A |
probably damaging |
Het |
| Styxl2 |
A |
T |
1: 165,926,860 (GRCm39) |
N917K |
possibly damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn1r167 |
A |
G |
7: 23,204,548 (GRCm39) |
F156S |
probably benign |
Het |
| Vrk2 |
G |
A |
11: 26,485,522 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,906,023 (GRCm39) |
N63D |
probably damaging |
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 |
|
IGL01417:Edem2
|
APN |
2 |
155,570,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTCCGTGTTGAAGATGTAGCC -3'
(R):5'- TGGAACTGCCAGGAAAGCATCC -3'
Sequencing Primer
(F):5'- AGATGTAGCCCCCGGCTC -3'
(R):5'- ggggagagatggaggcag -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation