Incidental Mutation 'R2250:Edem2'
| ID |
240819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Edem2
|
| Ensembl Gene |
ENSMUSG00000038312 |
| Gene Name |
ER degradation enhancer, mannosidase alpha-like 2 |
| Synonyms |
9530090G24Rik |
| MMRRC Submission |
040250-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.910)
|
| Stock # |
R2250 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
155543597-155571395 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 155552893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040833]
[ENSMUST00000040833]
[ENSMUST00000040833]
[ENSMUST00000040833]
|
| AlphaFold |
Q8BJT9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040833
|
| SMART Domains |
Protein: ENSMUSP00000041202
Gene: ENSMUSG00000038312
| 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 |
probably null
Transcript: ENSMUST00000040833
|
| SMART Domains |
Protein: ENSMUSP00000041202
Gene: ENSMUSG00000038312
| 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 |
probably null
Transcript: ENSMUST00000040833
|
| SMART Domains |
Protein: ENSMUSP00000041202
Gene: ENSMUSG00000038312
| 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 |
probably null
Transcript: ENSMUST00000040833
|
| SMART Domains |
Protein: ENSMUSP00000041202
Gene: ENSMUSG00000038312
| 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: ENSMUST00000131350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148571
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
A |
G |
11: 76,342,765 (GRCm39) |
C532R |
probably damaging |
Het |
| Hhatl |
A |
G |
9: 121,617,237 (GRCm39) |
V332A |
possibly damaging |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Irf2bp1 |
G |
T |
7: 18,739,724 (GRCm39) |
A455S |
probably benign |
Het |
| Lyg2 |
G |
A |
1: 37,954,816 (GRCm39) |
L10F |
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mindy4 |
G |
A |
6: 55,277,934 (GRCm39) |
V593I |
probably damaging |
Het |
| Nectin3 |
A |
T |
16: 46,275,099 (GRCm39) |
D319E |
probably benign |
Het |
| Or52e2 |
C |
A |
7: 102,804,157 (GRCm39) |
G266C |
probably damaging |
Het |
| Or6b9 |
T |
A |
7: 106,555,580 (GRCm39) |
M188L |
probably benign |
Het |
| Plcb4 |
G |
A |
2: 135,813,781 (GRCm39) |
|
probably null |
Het |
| Prkd3 |
T |
C |
17: 79,275,507 (GRCm39) |
T446A |
probably benign |
Het |
| Scn11a |
T |
A |
9: 119,587,668 (GRCm39) |
T1359S |
probably benign |
Het |
| Skp1 |
T |
C |
11: 52,134,446 (GRCm39) |
I59T |
possibly damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,071,680 (GRCm39) |
E2220G |
probably damaging |
Het |
| Strn4 |
A |
G |
7: 16,560,391 (GRCm39) |
Y181C |
probably damaging |
Het |
| Vmn1r119 |
A |
T |
7: 20,746,184 (GRCm39) |
L66H |
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 |
|
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 |
|
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'- GAGTAAGCCTGGCTTCTCACAC -3'
(R):5'- CCAGGTCATAGCCAGCATATG -3'
Sequencing Primer
(F):5'- TGGCTTCTCACACCACAGG -3'
(R):5'- CAGGAGGAGCTGGGCGTAAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation