Incidental Mutation 'IGL01065:Edem3'
| ID |
50180 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Edem3
|
| Ensembl Gene |
ENSMUSG00000043019 |
| Gene Name |
ER degradation enhancer, mannosidase alpha-like 3 |
| Synonyms |
2310050N11Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.394)
|
| Stock # |
IGL01065
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
151631122-151697802 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 151653302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 203
(Y203H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059498]
[ENSMUST00000187951]
[ENSMUST00000188145]
[ENSMUST00000191070]
|
| AlphaFold |
Q2HXL6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059498
AA Change: Y203H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058941
Gene: ENSMUSG00000043019
AA Change: Y203H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_47
|
60 |
499 |
3.5e-118 |
PFAM |
|
low complexity region
|
635 |
648 |
N/A |
INTRINSIC |
|
Pfam:PA
|
672 |
778 |
9.4e-16 |
PFAM |
|
low complexity region
|
838 |
855 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187951
AA Change: Y203H
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140775
Gene: ENSMUSG00000043019
AA Change: Y203H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_47
|
60 |
499 |
1.8e-147 |
PFAM |
|
low complexity region
|
617 |
630 |
N/A |
INTRINSIC |
|
Pfam:PA
|
658 |
762 |
1.6e-17 |
PFAM |
|
low complexity region
|
820 |
837 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188145
AA Change: Y203H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140443
Gene: ENSMUSG00000043019
AA Change: Y203H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
42 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_47
|
60 |
499 |
3.3e-144 |
PFAM |
|
low complexity region
|
635 |
648 |
N/A |
INTRINSIC |
|
Pfam:PA
|
676 |
780 |
4.3e-15 |
PFAM |
|
low complexity region
|
854 |
871 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191070
AA Change: Y203H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140234
Gene: ENSMUSG00000043019
AA Change: Y203H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
42 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_47
|
60 |
499 |
3e-144 |
PFAM |
|
low complexity region
|
616 |
629 |
N/A |
INTRINSIC |
|
Pfam:PA
|
657 |
761 |
4.1e-15 |
PFAM |
|
low complexity region
|
824 |
841 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,053,299 (GRCm39) |
Y1247C |
probably damaging |
Het |
| Atg16l1 |
A |
T |
1: 87,713,653 (GRCm39) |
N401I |
probably damaging |
Het |
| Bcam |
T |
C |
7: 19,490,724 (GRCm39) |
H591R |
probably benign |
Het |
| Bcat1 |
T |
C |
6: 144,946,015 (GRCm39) |
S446G |
possibly damaging |
Het |
| C2cd5 |
A |
G |
6: 143,024,005 (GRCm39) |
S262P |
probably damaging |
Het |
| Clrn1 |
T |
C |
3: 58,792,446 (GRCm39) |
K6E |
probably damaging |
Het |
| D17H6S53E |
A |
T |
17: 35,346,259 (GRCm39) |
K57* |
probably null |
Het |
| Dennd1a |
T |
A |
2: 37,734,917 (GRCm39) |
I17F |
probably benign |
Het |
| Depdc7 |
A |
C |
2: 104,552,426 (GRCm39) |
Y460* |
probably null |
Het |
| Disp3 |
T |
C |
4: 148,345,640 (GRCm39) |
Y400C |
probably damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,902,676 (GRCm39) |
C679R |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,632,923 (GRCm39) |
T1194A |
probably benign |
Het |
| Garin4 |
T |
C |
1: 190,895,224 (GRCm39) |
D473G |
probably benign |
Het |
| Gipc2 |
A |
G |
3: 151,808,294 (GRCm39) |
L253P |
possibly damaging |
Het |
| Gpr26 |
T |
C |
7: 131,569,230 (GRCm39) |
Y192H |
probably damaging |
Het |
| Hoxb6 |
A |
G |
11: 96,191,635 (GRCm39) |
T186A |
probably damaging |
Het |
| Kif24 |
A |
G |
4: 41,423,639 (GRCm39) |
|
probably benign |
Het |
| Lonp1 |
T |
C |
17: 56,922,500 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,410,907 (GRCm39) |
I1427T |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,299,780 (GRCm39) |
E3091K |
possibly damaging |
Het |
| Lzts1 |
T |
C |
8: 69,588,744 (GRCm39) |
N404S |
probably benign |
Het |
| Map3k4 |
A |
T |
17: 12,451,877 (GRCm39) |
D1470E |
probably damaging |
Het |
| Med30 |
A |
T |
15: 52,584,456 (GRCm39) |
N125Y |
probably benign |
Het |
| Mgam |
G |
A |
6: 40,639,644 (GRCm39) |
|
probably null |
Het |
| Mrps33 |
G |
A |
6: 39,779,447 (GRCm39) |
R83* |
probably null |
Het |
| Notch3 |
A |
T |
17: 32,365,390 (GRCm39) |
Y1107* |
probably null |
Het |
| Rc3h2 |
T |
A |
2: 37,267,856 (GRCm39) |
|
probably benign |
Het |
| Rev1 |
T |
C |
1: 38,138,090 (GRCm39) |
E65G |
possibly damaging |
Het |
| Rgl1 |
T |
C |
1: 152,394,893 (GRCm39) |
N760S |
probably damaging |
Het |
| Slc16a4 |
T |
C |
3: 107,210,416 (GRCm39) |
I362T |
possibly damaging |
Het |
| Slc25a24 |
G |
A |
3: 109,065,967 (GRCm39) |
|
probably benign |
Het |
| Slc2a4 |
G |
T |
11: 69,836,782 (GRCm39) |
|
probably benign |
Het |
| Slc39a13 |
T |
A |
2: 90,894,051 (GRCm39) |
I256F |
probably damaging |
Het |
| Spdya |
A |
T |
17: 71,863,320 (GRCm39) |
N23I |
possibly damaging |
Het |
| Srpra |
T |
A |
9: 35,124,734 (GRCm39) |
W112R |
probably damaging |
Het |
| Tbc1d4 |
A |
C |
14: 101,686,629 (GRCm39) |
|
probably benign |
Het |
| Ttc39d |
G |
A |
17: 80,523,703 (GRCm39) |
G121R |
probably damaging |
Het |
| Tuba3a |
C |
T |
6: 125,259,920 (GRCm39) |
V9M |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,966,111 (GRCm39) |
K244E |
unknown |
Het |
| Usp39 |
T |
C |
6: 72,316,958 (GRCm39) |
Y141C |
probably damaging |
Het |
|
| Other mutations in Edem3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00503:Edem3
|
APN |
1 |
151,694,264 (GRCm39) |
missense |
probably benign |
|
|
IGL01351:Edem3
|
APN |
1 |
151,668,136 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01451:Edem3
|
APN |
1 |
151,694,379 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01831:Edem3
|
APN |
1 |
151,671,833 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02096:Edem3
|
APN |
1 |
151,680,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02207:Edem3
|
APN |
1 |
151,684,111 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02507:Edem3
|
APN |
1 |
151,687,407 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02690:Edem3
|
APN |
1 |
151,680,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Abel
|
UTSW |
1 |
151,687,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
adam
|
UTSW |
1 |
151,687,347 (GRCm39) |
nonsense |
probably null |
|
|
eve
|
UTSW |
1 |
151,688,365 (GRCm39) |
splice site |
probably null |
|
|
R0421:Edem3
|
UTSW |
1 |
151,668,189 (GRCm39) |
splice site |
probably benign |
|
|
R1463:Edem3
|
UTSW |
1 |
151,683,261 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1934:Edem3
|
UTSW |
1 |
151,680,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1958:Edem3
|
UTSW |
1 |
151,680,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2090:Edem3
|
UTSW |
1 |
151,680,577 (GRCm39) |
splice site |
probably benign |
|
|
R2126:Edem3
|
UTSW |
1 |
151,670,482 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2191:Edem3
|
UTSW |
1 |
151,672,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Edem3
|
UTSW |
1 |
151,680,453 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4005:Edem3
|
UTSW |
1 |
151,635,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4018:Edem3
|
UTSW |
1 |
151,680,577 (GRCm39) |
splice site |
probably benign |
|
|
R4723:Edem3
|
UTSW |
1 |
151,680,449 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4818:Edem3
|
UTSW |
1 |
151,668,136 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4871:Edem3
|
UTSW |
1 |
151,679,982 (GRCm39) |
splice site |
probably null |
|
|
R5205:Edem3
|
UTSW |
1 |
151,687,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5347:Edem3
|
UTSW |
1 |
151,683,202 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5910:Edem3
|
UTSW |
1 |
151,646,578 (GRCm39) |
splice site |
probably null |
|
|
R7021:Edem3
|
UTSW |
1 |
151,631,423 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7366:Edem3
|
UTSW |
1 |
151,688,365 (GRCm39) |
splice site |
probably null |
|
|
R7481:Edem3
|
UTSW |
1 |
151,683,974 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7481:Edem3
|
UTSW |
1 |
151,683,973 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7734:Edem3
|
UTSW |
1 |
151,694,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7773:Edem3
|
UTSW |
1 |
151,687,347 (GRCm39) |
nonsense |
probably null |
|
|
R7828:Edem3
|
UTSW |
1 |
151,687,386 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8556:Edem3
|
UTSW |
1 |
151,660,586 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8559:Edem3
|
UTSW |
1 |
151,694,169 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8724:Edem3
|
UTSW |
1 |
151,651,624 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9193:Edem3
|
UTSW |
1 |
151,694,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9201:Edem3
|
UTSW |
1 |
151,694,324 (GRCm39) |
missense |
probably benign |
|
|
X0028:Edem3
|
UTSW |
1 |
151,694,313 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Posted On |
2013-06-21 |
Incidental Mutation