Incidental Mutation 'R4018:Edem3'
| ID |
312010 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Edem3
|
| Ensembl Gene |
ENSMUSG00000043019 |
| Gene Name |
ER degradation enhancer, mannosidase alpha-like 3 |
| Synonyms |
2310050N11Rik |
| MMRRC Submission |
040848-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.394)
|
| Stock # |
R4018 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
151631122-151697802 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 151680577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000058941
Gene: ENSMUSG00000043019
| 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
|
| SMART Domains |
Protein: ENSMUSP00000140775
Gene: ENSMUSG00000043019
| 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
|
| SMART Domains |
Protein: ENSMUSP00000140443
Gene: ENSMUSG00000043019
| 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
|
| SMART Domains |
Protein: ENSMUSP00000140234
Gene: ENSMUSG00000043019
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (33/33) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aga |
A |
G |
8: 53,976,226 (GRCm39) |
K319R |
probably benign |
Het |
| Brip1 |
G |
T |
11: 86,029,677 (GRCm39) |
T619K |
possibly damaging |
Het |
| Cd300ld2 |
G |
T |
11: 114,903,330 (GRCm39) |
|
probably benign |
Het |
| Cd300lg |
A |
G |
11: 101,932,420 (GRCm39) |
R2G |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,302,281 (GRCm39) |
V2616I |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,460,517 (GRCm39) |
I1160V |
probably benign |
Het |
| Endou |
T |
A |
15: 97,616,818 (GRCm39) |
K235M |
probably damaging |
Het |
| Gm5431 |
T |
A |
11: 48,779,995 (GRCm39) |
N309I |
probably damaging |
Het |
| Il4 |
T |
A |
11: 53,504,806 (GRCm39) |
|
probably benign |
Het |
| Iws1 |
C |
A |
18: 32,203,205 (GRCm39) |
S27* |
probably null |
Het |
| Kdm5d |
T |
C |
Y: 910,441 (GRCm39) |
|
probably benign |
Het |
| Ldb3 |
T |
C |
14: 34,274,128 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,738,438 (GRCm39) |
T284A |
probably benign |
Het |
| Maml1 |
A |
T |
11: 50,156,611 (GRCm39) |
N521K |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,161,526 (GRCm39) |
Y482H |
probably damaging |
Het |
| Notch2 |
G |
T |
3: 98,011,881 (GRCm39) |
C633F |
probably damaging |
Het |
| Oc90 |
T |
C |
15: 65,759,457 (GRCm39) |
D232G |
probably benign |
Het |
| Or5b101 |
T |
C |
19: 13,005,189 (GRCm39) |
E168G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,625,885 (GRCm39) |
Y1717C |
unknown |
Het |
| Prkca |
T |
A |
11: 107,830,428 (GRCm39) |
I221F |
probably damaging |
Het |
| Rab3c |
T |
A |
13: 110,220,728 (GRCm39) |
K144N |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,933,300 (GRCm39) |
N57I |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,764,068 (GRCm39) |
T145A |
possibly damaging |
Het |
| Septin4 |
G |
A |
11: 87,475,947 (GRCm39) |
R162Q |
probably damaging |
Het |
| Slc25a39 |
A |
T |
11: 102,295,850 (GRCm39) |
L127H |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 94,567,216 (GRCm39) |
V95A |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,844,255 (GRCm39) |
I279V |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,893 (GRCm39) |
I314V |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGGGGTTACTTACAATATTGTCTC -3'
(R):5'- TGTCTTTCCACTATGCAGAAACTAC -3'
Sequencing Primer
(F):5'- TGTCTCATTTTCTTTTAGGACATCAC -3'
(R):5'- CACTATGCAGAAACTACAAAGAAAAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation