Incidental Mutation 'IGL02231:Edem1'
| ID |
285711 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Edem1
|
| Ensembl Gene |
ENSMUSG00000030104 |
| Gene Name |
ER degradation enhancer, mannosidase alpha-like 1 |
| Synonyms |
A130059K23Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.747)
|
| Stock # |
IGL02231
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
108805602-108836317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108805849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 50
(D50G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032196]
[ENSMUST00000089162]
[ENSMUST00000204804]
|
| AlphaFold |
Q925U4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032196
|
| SMART Domains |
Protein: ENSMUSP00000032196
Gene: ENSMUSG00000030105
| Domain | Start | End | E-Value | Type |
|---|
|
ARF
|
1 |
185 |
4.46e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089162
AA Change: D50G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000086565
Gene: ENSMUSG00000030104
AA Change: D50G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
92 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_47
|
132 |
581 |
1.1e-123 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204804
AA Change: D50G
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000144901
Gene: ENSMUSG00000030104
AA Change: D50G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
92 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_47
|
132 |
529 |
9.9e-97 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alcam |
T |
A |
16: 52,094,413 (GRCm39) |
|
probably benign |
Het |
| Alox15 |
A |
C |
11: 70,240,382 (GRCm39) |
D266E |
probably benign |
Het |
| Atcay |
A |
T |
10: 81,046,382 (GRCm39) |
V314E |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,683,455 (GRCm39) |
G758R |
possibly damaging |
Het |
| Bltp2 |
G |
A |
11: 78,170,722 (GRCm39) |
G1647D |
probably benign |
Het |
| Cacna2d4 |
T |
A |
6: 119,254,869 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,719,709 (GRCm39) |
V2429A |
probably damaging |
Het |
| Clspn |
T |
G |
4: 126,453,021 (GRCm39) |
D11E |
probably damaging |
Het |
| Cnot3 |
A |
G |
7: 3,661,209 (GRCm39) |
T573A |
probably benign |
Het |
| Cyp2d34 |
A |
T |
15: 82,502,807 (GRCm39) |
S140T |
probably benign |
Het |
| Emilin3 |
G |
A |
2: 160,750,435 (GRCm39) |
T438I |
probably damaging |
Het |
| Etfdh |
C |
T |
3: 79,525,700 (GRCm39) |
V173I |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,171,918 (GRCm39) |
T2932A |
probably damaging |
Het |
| Fcrl1 |
G |
A |
3: 87,292,469 (GRCm39) |
E154K |
possibly damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,292,470 (GRCm39) |
E154V |
probably damaging |
Het |
| G3bp1 |
T |
A |
11: 55,386,273 (GRCm39) |
L244* |
probably null |
Het |
| Itgae |
A |
T |
11: 72,981,448 (GRCm39) |
K2M |
possibly damaging |
Het |
| Kcnq2 |
T |
C |
2: 180,723,508 (GRCm39) |
I654V |
probably benign |
Het |
| Ksr2 |
C |
T |
5: 117,638,841 (GRCm39) |
R82C |
probably damaging |
Het |
| Lrig3 |
A |
T |
10: 125,833,041 (GRCm39) |
D305V |
probably damaging |
Het |
| Me1 |
T |
C |
9: 86,493,908 (GRCm39) |
K322E |
possibly damaging |
Het |
| Med12l |
T |
A |
3: 59,153,303 (GRCm39) |
D1109E |
probably damaging |
Het |
| Mest |
A |
G |
6: 30,740,772 (GRCm39) |
K73E |
possibly damaging |
Het |
| Nup155 |
T |
G |
15: 8,173,548 (GRCm39) |
L881R |
probably damaging |
Het |
| Ocln |
A |
T |
13: 100,677,622 (GRCm39) |
S2T |
probably damaging |
Het |
| Oosp3 |
T |
C |
19: 11,676,803 (GRCm39) |
L54S |
probably damaging |
Het |
| Pkp3 |
G |
A |
7: 140,664,151 (GRCm39) |
E443K |
probably damaging |
Het |
| Plk2 |
T |
A |
13: 110,536,603 (GRCm39) |
C632S |
probably benign |
Het |
| Ptk6 |
C |
T |
2: 180,838,794 (GRCm39) |
V320I |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 162,079,980 (GRCm39) |
I273N |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 162,119,966 (GRCm39) |
|
probably null |
Het |
| Rab3gap2 |
T |
C |
1: 184,999,095 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
G |
A |
5: 130,240,816 (GRCm39) |
A312T |
probably damaging |
Het |
| Rabl6 |
T |
A |
2: 25,488,196 (GRCm39) |
K109N |
probably benign |
Het |
| Rbp7 |
C |
T |
4: 149,539,334 (GRCm39) |
|
probably null |
Het |
| Reg3a |
C |
T |
6: 78,359,224 (GRCm39) |
H75Y |
possibly damaging |
Het |
| Rnf123 |
G |
T |
9: 107,943,598 (GRCm39) |
P546T |
probably benign |
Het |
| Rnmt |
C |
A |
18: 68,447,152 (GRCm39) |
C345* |
probably null |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Slc14a2 |
C |
T |
18: 78,252,236 (GRCm39) |
S25N |
possibly damaging |
Het |
| Spata16 |
G |
T |
3: 26,967,413 (GRCm39) |
G388W |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,400,031 (GRCm39) |
R2493W |
probably damaging |
Het |
| Thada |
T |
A |
17: 84,736,125 (GRCm39) |
D970V |
probably damaging |
Het |
| Tmem184c |
A |
G |
8: 78,331,441 (GRCm39) |
Y103H |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,628,440 (GRCm39) |
D12827E |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,627,030 (GRCm39) |
L976S |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp936 |
T |
A |
7: 42,836,909 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Edem1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00583:Edem1
|
APN |
6 |
108,832,520 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL00648:Edem1
|
APN |
6 |
108,828,168 (GRCm39) |
splice site |
probably null |
|
|
IGL00694:Edem1
|
APN |
6 |
108,818,562 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02967:Edem1
|
APN |
6 |
108,813,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03018:Edem1
|
APN |
6 |
108,806,103 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4468001:Edem1
|
UTSW |
6 |
108,821,828 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0050:Edem1
|
UTSW |
6 |
108,805,809 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0367:Edem1
|
UTSW |
6 |
108,823,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1165:Edem1
|
UTSW |
6 |
108,828,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1354:Edem1
|
UTSW |
6 |
108,831,277 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1385:Edem1
|
UTSW |
6 |
108,823,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1588:Edem1
|
UTSW |
6 |
108,818,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1964:Edem1
|
UTSW |
6 |
108,821,908 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2060:Edem1
|
UTSW |
6 |
108,831,248 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2106:Edem1
|
UTSW |
6 |
108,825,686 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2393:Edem1
|
UTSW |
6 |
108,829,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2443:Edem1
|
UTSW |
6 |
108,828,230 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3732:Edem1
|
UTSW |
6 |
108,818,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Edem1
|
UTSW |
6 |
108,818,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3733:Edem1
|
UTSW |
6 |
108,818,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3734:Edem1
|
UTSW |
6 |
108,818,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4754:Edem1
|
UTSW |
6 |
108,818,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4791:Edem1
|
UTSW |
6 |
108,818,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Edem1
|
UTSW |
6 |
108,805,707 (GRCm39) |
unclassified |
probably benign |
|
|
R5326:Edem1
|
UTSW |
6 |
108,831,290 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5334:Edem1
|
UTSW |
6 |
108,825,793 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5501:Edem1
|
UTSW |
6 |
108,820,061 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5542:Edem1
|
UTSW |
6 |
108,831,290 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5976:Edem1
|
UTSW |
6 |
108,819,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6177:Edem1
|
UTSW |
6 |
108,828,159 (GRCm39) |
splice site |
probably null |
|
|
R6556:Edem1
|
UTSW |
6 |
108,831,318 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6835:Edem1
|
UTSW |
6 |
108,831,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7192:Edem1
|
UTSW |
6 |
108,805,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7239:Edem1
|
UTSW |
6 |
108,831,341 (GRCm39) |
missense |
probably benign |
|
|
R7442:Edem1
|
UTSW |
6 |
108,828,266 (GRCm39) |
nonsense |
probably null |
|
|
R7780:Edem1
|
UTSW |
6 |
108,818,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7902:Edem1
|
UTSW |
6 |
108,831,338 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8103:Edem1
|
UTSW |
6 |
108,829,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8135:Edem1
|
UTSW |
6 |
108,806,022 (GRCm39) |
nonsense |
probably null |
|
|
R8359:Edem1
|
UTSW |
6 |
108,823,774 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9250:Edem1
|
UTSW |
6 |
108,805,850 (GRCm39) |
missense |
probably benign |
|
|
R9766:Edem1
|
UTSW |
6 |
108,823,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation