Incidental Mutation 'IGL01351:Edem3'
ID |
75347 |
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 # |
IGL01351
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
151631122-151697802 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 151668136 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 305
(V305A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140234
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059498]
[ENSMUST00000187951]
[ENSMUST00000188145]
[ENSMUST00000191070]
|
AlphaFold |
Q2HXL6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059498
AA Change: V305A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000058941 Gene: ENSMUSG00000043019 AA Change: V305A
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: V305A
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000140775 Gene: ENSMUSG00000043019 AA Change: V305A
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 |
possibly damaging
Transcript: ENSMUST00000188145
AA Change: V305A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140443 Gene: ENSMUSG00000043019 AA Change: V305A
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 |
possibly damaging
Transcript: ENSMUST00000191070
AA Change: V305A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140234 Gene: ENSMUSG00000043019 AA Change: V305A
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 |
|
Meta Mutation Damage Score |
0.2640 |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,217,565 (GRCm39) |
S336P |
probably benign |
Het |
Abca9 |
T |
C |
11: 110,039,729 (GRCm39) |
Y428C |
probably damaging |
Het |
Alpk1 |
T |
C |
3: 127,466,011 (GRCm39) |
Q1165R |
probably damaging |
Het |
Angel2 |
C |
A |
1: 190,665,310 (GRCm39) |
N80K |
probably benign |
Het |
Bmp6 |
T |
C |
13: 38,653,610 (GRCm39) |
S226P |
probably damaging |
Het |
Ccar2 |
T |
C |
14: 70,383,311 (GRCm39) |
T229A |
probably benign |
Het |
Cdh12 |
G |
A |
15: 21,237,989 (GRCm39) |
V75M |
probably damaging |
Het |
Cdh6 |
G |
T |
15: 13,034,326 (GRCm39) |
A778E |
possibly damaging |
Het |
Corin |
A |
T |
5: 72,496,334 (GRCm39) |
C540S |
probably damaging |
Het |
Cyfip1 |
C |
A |
7: 55,547,991 (GRCm39) |
Y530* |
probably null |
Het |
Dock10 |
T |
G |
1: 80,570,876 (GRCm39) |
K327N |
probably damaging |
Het |
Dpy19l3 |
A |
G |
7: 35,426,840 (GRCm39) |
|
probably benign |
Het |
E2f8 |
T |
C |
7: 48,516,899 (GRCm39) |
T827A |
probably benign |
Het |
Fam170a |
T |
C |
18: 50,414,845 (GRCm39) |
W164R |
probably benign |
Het |
Fbxw14 |
T |
C |
9: 109,103,640 (GRCm39) |
D24G |
possibly damaging |
Het |
Gnmt |
T |
C |
17: 47,037,606 (GRCm39) |
D124G |
probably benign |
Het |
Gpx5 |
T |
C |
13: 21,471,669 (GRCm39) |
D178G |
probably damaging |
Het |
Gsdmd |
T |
A |
15: 75,736,186 (GRCm39) |
I105N |
probably damaging |
Het |
Hps5 |
C |
T |
7: 46,410,856 (GRCm39) |
M1113I |
probably damaging |
Het |
Hyal6 |
T |
C |
6: 24,734,178 (GRCm39) |
F37S |
probably damaging |
Het |
Il17c |
C |
T |
8: 123,148,862 (GRCm39) |
T2I |
probably benign |
Het |
Lyz1 |
A |
G |
10: 117,127,093 (GRCm39) |
C48R |
probably damaging |
Het |
Or52e18 |
T |
A |
7: 104,609,946 (GRCm39) |
|
probably benign |
Het |
Pafah1b3 |
G |
A |
7: 24,994,570 (GRCm39) |
R215C |
possibly damaging |
Het |
Psmb4 |
A |
T |
3: 94,793,538 (GRCm39) |
|
probably null |
Het |
Rnf213 |
T |
C |
11: 119,373,944 (GRCm39) |
V5009A |
probably benign |
Het |
Sema6a |
T |
C |
18: 47,414,369 (GRCm39) |
K494E |
possibly damaging |
Het |
Sfmbt1 |
T |
C |
14: 30,491,777 (GRCm39) |
V17A |
probably benign |
Het |
Speg |
T |
A |
1: 75,387,920 (GRCm39) |
|
probably benign |
Het |
Spint1 |
A |
G |
2: 119,076,936 (GRCm39) |
D340G |
probably damaging |
Het |
Tasor |
A |
G |
14: 27,186,258 (GRCm39) |
E819G |
probably benign |
Het |
Tctn3 |
T |
C |
19: 40,596,081 (GRCm39) |
I309V |
probably benign |
Het |
Tex19.1 |
T |
A |
11: 121,038,072 (GRCm39) |
D143E |
probably damaging |
Het |
Tktl2 |
A |
G |
8: 66,965,548 (GRCm39) |
I369V |
probably benign |
Het |
Tm2d2 |
A |
G |
8: 25,510,573 (GRCm39) |
|
probably benign |
Het |
Traf4 |
C |
A |
11: 78,056,226 (GRCm39) |
R14L |
possibly damaging |
Het |
Zfhx4 |
A |
G |
3: 5,466,196 (GRCm39) |
Y2118C |
probably damaging |
Het |
Zmynd15 |
C |
A |
11: 70,354,416 (GRCm39) |
N425K |
probably benign |
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 |
|
IGL01065:Edem3
|
APN |
1 |
151,653,302 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-10-07 |