Incidental Mutation 'IGL03018:Edem1'
| ID |
407970 |
| 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 # |
IGL03018
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
108805602-108836317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108806103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 135
(F135L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086565
(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 damaging
Transcript: ENSMUST00000089162
AA Change: F135L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000086565
Gene: ENSMUSG00000030104
AA Change: F135L
| 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 damaging
Transcript: ENSMUST00000204804
AA Change: F135L
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144901
Gene: ENSMUSG00000030104
AA Change: F135L
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,752,451 (GRCm39) |
V474E |
probably damaging |
Het |
| Cpsf6 |
A |
T |
10: 117,203,861 (GRCm39) |
D30E |
probably benign |
Het |
| Dnai7 |
A |
G |
6: 145,129,031 (GRCm39) |
F394S |
probably damaging |
Het |
| Elf3 |
C |
T |
1: 135,183,803 (GRCm39) |
E239K |
possibly damaging |
Het |
| Farp1 |
C |
T |
14: 121,339,581 (GRCm39) |
A53V |
probably benign |
Het |
| Gli3 |
T |
A |
13: 15,834,717 (GRCm39) |
L400Q |
probably damaging |
Het |
| Gtf2i |
T |
A |
5: 134,318,189 (GRCm39) |
I109F |
possibly damaging |
Het |
| Lat2 |
A |
T |
5: 134,631,445 (GRCm39) |
I191N |
probably damaging |
Het |
| Mtf1 |
G |
A |
4: 124,732,456 (GRCm39) |
A505T |
probably benign |
Het |
| Naa30 |
G |
T |
14: 49,410,697 (GRCm39) |
E208D |
probably benign |
Het |
| Nlrp5 |
T |
C |
7: 23,117,172 (GRCm39) |
Y299H |
probably benign |
Het |
| Npc1 |
T |
A |
18: 12,347,436 (GRCm39) |
N195Y |
probably damaging |
Het |
| Or2f1 |
A |
G |
6: 42,721,748 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or4p21 |
T |
C |
2: 88,277,163 (GRCm39) |
N40D |
probably damaging |
Het |
| Or5t16 |
T |
G |
2: 86,819,349 (GRCm39) |
Y57S |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,787,523 (GRCm39) |
M300T |
probably benign |
Het |
| Or7g19 |
A |
T |
9: 18,856,177 (GRCm39) |
I78F |
probably damaging |
Het |
| Pate12 |
A |
G |
9: 36,344,723 (GRCm39) |
T84A |
possibly damaging |
Het |
| Pcdh9 |
G |
A |
14: 93,253,012 (GRCm39) |
A1217V |
probably null |
Het |
| Pdhb |
C |
T |
14: 8,171,537 (GRCm38) |
|
probably benign |
Het |
| Pknox2 |
A |
G |
9: 36,865,993 (GRCm39) |
Y75H |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,175,563 (GRCm39) |
S748P |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,788,789 (GRCm39) |
V521A |
probably damaging |
Het |
| Samd7 |
A |
G |
3: 30,816,294 (GRCm39) |
K347E |
probably damaging |
Het |
| Selenom |
A |
G |
11: 3,466,508 (GRCm39) |
D63G |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,501,520 (GRCm39) |
V487A |
possibly damaging |
Het |
| Tapt1 |
A |
T |
5: 44,361,666 (GRCm39) |
M109K |
probably damaging |
Het |
| Trib1 |
T |
C |
15: 59,526,333 (GRCm39) |
F301S |
probably damaging |
Het |
| Tspyl1 |
T |
C |
10: 34,159,112 (GRCm39) |
V279A |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,264,972 (GRCm39) |
V1184I |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,585,044 (GRCm39) |
I526V |
probably benign |
Het |
| Vtcn1 |
A |
G |
3: 100,791,226 (GRCm39) |
D88G |
probably damaging |
Het |
| Yod1 |
T |
G |
1: 130,646,695 (GRCm39) |
L191V |
probably benign |
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 |
|
IGL02231:Edem1
|
APN |
6 |
108,805,849 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02967:Edem1
|
APN |
6 |
108,813,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation