Incidental Mutation 'IGL00503:Edem3'
| ID |
332509 |
| 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 # |
IGL00503
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
151631122-151697802 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 151694264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 852
(S852A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059498]
[ENSMUST00000187951]
[ENSMUST00000188145]
[ENSMUST00000191070]
|
| AlphaFold |
Q2HXL6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059498
AA Change: S866A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000058941
Gene: ENSMUSG00000043019
AA Change: S866A
| 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: S848A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140775
Gene: ENSMUSG00000043019
AA Change: S848A
| 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: S882A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140443
Gene: ENSMUSG00000043019
AA Change: S882A
| 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: S852A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140234
Gene: ENSMUSG00000043019
AA Change: S852A
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
T |
A |
18: 69,083,173 (GRCm39) |
R14* |
probably null |
Het |
| Abcb5 |
A |
G |
12: 118,871,336 (GRCm39) |
S688P |
probably benign |
Het |
| Adgb |
T |
A |
10: 10,281,843 (GRCm39) |
Q597L |
possibly damaging |
Het |
| Aga |
G |
A |
8: 53,971,956 (GRCm39) |
V210I |
probably benign |
Het |
| Akap17b |
A |
G |
X: 35,875,963 (GRCm39) |
S515P |
probably damaging |
Het |
| Brinp3 |
A |
T |
1: 146,776,905 (GRCm39) |
T451S |
probably benign |
Het |
| Cabcoco1 |
G |
T |
10: 68,377,635 (GRCm39) |
T18N |
possibly damaging |
Het |
| Ccar2 |
C |
T |
14: 70,379,980 (GRCm39) |
W402* |
probably null |
Het |
| Ccdc15 |
G |
A |
9: 37,231,769 (GRCm39) |
A185V |
probably damaging |
Het |
| Ccdc50 |
G |
A |
16: 27,228,102 (GRCm39) |
E90K |
probably damaging |
Het |
| Cckbr |
G |
A |
7: 105,083,449 (GRCm39) |
M217I |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,512,513 (GRCm39) |
T398A |
possibly damaging |
Het |
| Col4a1 |
A |
G |
8: 11,290,076 (GRCm39) |
|
probably benign |
Het |
| Cyp4v3 |
T |
A |
8: 45,760,058 (GRCm39) |
E498V |
probably damaging |
Het |
| Dgke |
T |
C |
11: 88,932,327 (GRCm39) |
I488V |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,617,934 (GRCm39) |
D443G |
probably damaging |
Het |
| Fbxo8 |
T |
A |
8: 57,041,058 (GRCm39) |
M158K |
probably benign |
Het |
| Galnt15 |
C |
T |
14: 31,774,313 (GRCm39) |
T359M |
possibly damaging |
Het |
| Herc6 |
A |
G |
6: 57,584,130 (GRCm39) |
N330D |
probably benign |
Het |
| Kdf1 |
T |
C |
4: 133,255,468 (GRCm39) |
S62P |
probably damaging |
Het |
| Larp4 |
T |
A |
15: 99,885,302 (GRCm39) |
I51N |
probably damaging |
Het |
| Mfsd6l |
T |
A |
11: 68,447,299 (GRCm39) |
I50N |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,928,679 (GRCm39) |
Y4C |
probably benign |
Het |
| Muc17 |
G |
T |
5: 137,165,971 (GRCm39) |
Y343* |
probably null |
Het |
| Myom2 |
A |
C |
8: 15,164,289 (GRCm39) |
|
probably null |
Het |
| Npat |
A |
T |
9: 53,483,949 (GRCm39) |
|
probably benign |
Het |
| Pamr1 |
A |
T |
2: 102,472,617 (GRCm39) |
I639F |
possibly damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,635,159 (GRCm39) |
S345G |
probably damaging |
Het |
| Pcyt1a |
A |
G |
16: 32,285,919 (GRCm39) |
T197A |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,784,401 (GRCm39) |
M316V |
probably benign |
Het |
| Plekhs1 |
T |
C |
19: 56,453,031 (GRCm39) |
|
probably null |
Het |
| Sema3e |
G |
T |
5: 14,290,586 (GRCm39) |
R557M |
probably damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,424,008 (GRCm39) |
N154S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,784,706 (GRCm39) |
|
probably benign |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Spats1 |
A |
T |
17: 45,765,011 (GRCm39) |
|
probably null |
Het |
| Tnfaip6 |
T |
G |
2: 51,945,859 (GRCm39) |
V235G |
probably damaging |
Het |
| Trim34a |
A |
T |
7: 103,910,538 (GRCm39) |
T447S |
probably damaging |
Het |
| Tut1 |
G |
A |
19: 8,936,460 (GRCm39) |
A95T |
probably damaging |
Het |
| Urgcp |
C |
T |
11: 5,666,448 (GRCm39) |
R630Q |
possibly damaging |
Het |
| Vmn1r125 |
G |
T |
7: 21,006,106 (GRCm39) |
M1I |
probably null |
Het |
| Vmn2r99 |
A |
G |
17: 19,599,116 (GRCm39) |
T267A |
probably benign |
Het |
| Wdr5 |
A |
G |
2: 27,410,879 (GRCm39) |
K162E |
probably benign |
Het |
| Zscan26 |
T |
G |
13: 21,629,271 (GRCm39) |
K285Q |
probably damaging |
Het |
|
| Other mutations in Edem3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-08-05 |
Incidental Mutation