Incidental Mutation 'IGL02096:Edem3'
| ID |
281106 |
| 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: 0.296)
|
| Stock # |
IGL02096
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
151631122-151697802 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 151680470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 532
(T532A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059498]
[ENSMUST00000187951]
[ENSMUST00000188145]
[ENSMUST00000191070]
|
| AlphaFold |
Q2HXL6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059498
AA Change: T532A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000058941
Gene: ENSMUSG00000043019
AA Change: T532A
| 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 |
probably benign
Transcript: ENSMUST00000187951
AA Change: T532A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000140775
Gene: ENSMUSG00000043019
AA Change: T532A
| 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 benign
Transcript: ENSMUST00000188145
AA Change: T532A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140443
Gene: ENSMUSG00000043019
AA Change: T532A
| 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 benign
Transcript: ENSMUST00000191070
AA Change: T532A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000140234
Gene: ENSMUSG00000043019
AA Change: T532A
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 109,993,359 (GRCm39) |
L1584P |
probably damaging |
Het |
| Abca9 |
G |
T |
11: 110,056,806 (GRCm39) |
H5N |
probably benign |
Het |
| Acox1 |
A |
T |
11: 116,069,024 (GRCm39) |
I371N |
probably damaging |
Het |
| Aopep |
C |
A |
13: 63,208,903 (GRCm39) |
A340E |
probably benign |
Het |
| Bmp5 |
A |
G |
9: 75,805,833 (GRCm39) |
N445S |
probably damaging |
Het |
| Cacna1b |
G |
T |
2: 24,568,927 (GRCm39) |
A999E |
probably benign |
Het |
| Cdc27 |
A |
T |
11: 104,419,394 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,308,349 (GRCm39) |
E2134G |
possibly damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,078,062 (GRCm39) |
N698S |
possibly damaging |
Het |
| Duox1 |
A |
T |
2: 122,174,655 (GRCm39) |
K1271M |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,599,254 (GRCm39) |
Y1870H |
possibly damaging |
Het |
| Epx |
A |
T |
11: 87,760,294 (GRCm39) |
L440Q |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,699,791 (GRCm39) |
F432L |
probably benign |
Het |
| Fam185a |
C |
A |
5: 21,630,341 (GRCm39) |
P59Q |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,822,204 (GRCm39) |
D5979G |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,043,207 (GRCm39) |
S335P |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,258,284 (GRCm39) |
Q1262L |
probably damaging |
Het |
| Hmmr |
A |
T |
11: 40,598,256 (GRCm39) |
V652E |
probably benign |
Het |
| Iapp |
A |
T |
6: 142,249,199 (GRCm39) |
N84I |
probably benign |
Het |
| Katnip |
G |
A |
7: 125,413,993 (GRCm39) |
C379Y |
probably benign |
Het |
| Mmp17 |
C |
T |
5: 129,675,752 (GRCm39) |
Q304* |
probably null |
Het |
| Mpl |
T |
C |
4: 118,314,333 (GRCm39) |
T55A |
possibly damaging |
Het |
| Mst1r |
G |
A |
9: 107,794,478 (GRCm39) |
R1219H |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,117 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
C |
T |
14: 123,831,915 (GRCm39) |
V120I |
probably benign |
Het |
| Nt5dc1 |
A |
T |
10: 34,275,806 (GRCm39) |
C134* |
probably null |
Het |
| Obscn |
A |
C |
11: 58,971,530 (GRCm39) |
N2228K |
probably damaging |
Het |
| Or2n1c |
T |
A |
17: 38,520,074 (GRCm39) |
*313R |
probably null |
Het |
| Osbpl10 |
T |
C |
9: 115,046,062 (GRCm39) |
M566T |
possibly damaging |
Het |
| Pabpc1l |
G |
A |
2: 163,886,267 (GRCm39) |
V466I |
probably benign |
Het |
| Pdcd11 |
T |
G |
19: 47,094,860 (GRCm39) |
V548G |
probably benign |
Het |
| Prss27 |
G |
T |
17: 24,263,951 (GRCm39) |
K212N |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,297,789 (GRCm39) |
S399T |
probably damaging |
Het |
| Rgs19 |
A |
G |
2: 181,331,076 (GRCm39) |
S159P |
probably damaging |
Het |
| Sh2b1 |
A |
G |
7: 126,068,465 (GRCm39) |
S449P |
probably damaging |
Het |
| Slc6a18 |
T |
A |
13: 73,820,870 (GRCm39) |
Y238F |
probably benign |
Het |
| Stx11 |
T |
C |
10: 12,817,224 (GRCm39) |
I167V |
probably benign |
Het |
| Sucnr1 |
A |
G |
3: 59,994,371 (GRCm39) |
M300V |
possibly damaging |
Het |
| Synj2 |
A |
G |
17: 6,040,628 (GRCm39) |
T235A |
probably damaging |
Het |
| Ubxn2b |
T |
A |
4: 6,214,749 (GRCm39) |
I261N |
probably damaging |
Het |
| Vmn2r43 |
G |
A |
7: 8,260,512 (GRCm39) |
|
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,484,443 (GRCm39) |
M454T |
probably damaging |
Het |
| Vsig2 |
T |
A |
9: 37,451,251 (GRCm39) |
S51T |
probably damaging |
Het |
| Wdr41 |
T |
C |
13: 95,153,964 (GRCm39) |
|
probably benign |
Het |
| Wdr6 |
A |
C |
9: 108,453,752 (GRCm39) |
L44V |
probably damaging |
Het |
| Zfp1001 |
T |
C |
2: 150,165,634 (GRCm39) |
Y5H |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,674,796 (GRCm39) |
Y587H |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,602,254 (GRCm39) |
K399N |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation