Incidental Mutation 'R7828:Edem3'
| ID |
602415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Edem3
|
| Ensembl Gene |
ENSMUSG00000043019 |
| Gene Name |
ER degradation enhancer, mannosidase alpha-like 3 |
| Synonyms |
2310050N11Rik |
| MMRRC Submission |
045882-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.296)
|
| Stock # |
R7828 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
151631122-151697802 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 151687386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 756
(I756V)
|
| 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: I775V
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000058941
Gene: ENSMUSG00000043019
AA Change: I775V
| 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: I757V
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000140775
Gene: ENSMUSG00000043019
AA Change: I757V
| 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: I775V
PolyPhen 2
Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000140443
Gene: ENSMUSG00000043019
AA Change: I775V
| 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: I756V
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140234
Gene: ENSMUSG00000043019
AA Change: I756V
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (64/64) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,254,904 (GRCm39) |
T869A |
probably benign |
Het |
| Aqr |
T |
A |
2: 113,979,497 (GRCm39) |
I313F |
probably damaging |
Het |
| Arid1b |
C |
A |
17: 5,147,943 (GRCm39) |
P615Q |
probably damaging |
Het |
| Asb16 |
C |
A |
11: 102,168,753 (GRCm39) |
Q410K |
probably benign |
Het |
| Ash2l |
T |
C |
8: 26,313,214 (GRCm39) |
E335G |
possibly damaging |
Het |
| AU041133 |
C |
T |
10: 81,987,054 (GRCm39) |
H236Y |
probably damaging |
Het |
| Bhmt |
T |
A |
13: 93,754,156 (GRCm39) |
Y351F |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 74,886,501 (GRCm39) |
S610P |
probably damaging |
Het |
| Cab39l |
T |
C |
14: 59,737,159 (GRCm39) |
|
probably null |
Het |
| Cdc7 |
A |
T |
5: 107,120,816 (GRCm39) |
Q146L |
possibly damaging |
Het |
| Cdk18 |
T |
C |
1: 132,044,642 (GRCm39) |
H328R |
possibly damaging |
Het |
| Cdsn |
T |
C |
17: 35,865,878 (GRCm39) |
S136P |
unknown |
Het |
| Ces3b |
T |
A |
8: 105,813,228 (GRCm39) |
L203Q |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,676,489 (GRCm39) |
V840A |
probably damaging |
Het |
| Ctse |
T |
C |
1: 131,590,491 (GRCm39) |
L71P |
probably damaging |
Het |
| Ears2 |
G |
T |
7: 121,647,563 (GRCm39) |
S240R |
probably benign |
Het |
| Epas1 |
T |
C |
17: 87,135,127 (GRCm39) |
Y587H |
probably benign |
Het |
| Fcamr |
G |
T |
1: 130,739,443 (GRCm39) |
A248S |
probably damaging |
Het |
| Gm14496 |
G |
A |
2: 181,633,171 (GRCm39) |
W51* |
probably null |
Het |
| Hfm1 |
A |
T |
5: 107,029,657 (GRCm39) |
|
probably null |
Het |
| Hhip |
T |
C |
8: 80,724,837 (GRCm39) |
I312V |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,295,887 (GRCm39) |
N2658K |
possibly damaging |
Het |
| Iars1 |
T |
A |
13: 49,878,748 (GRCm39) |
M948K |
probably benign |
Het |
| Il27ra |
A |
G |
8: 84,758,187 (GRCm39) |
L521S |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,459,892 (GRCm39) |
D2062G |
probably damaging |
Het |
| Jag2 |
G |
T |
12: 112,876,800 (GRCm39) |
R784S |
probably benign |
Het |
| Maea |
T |
A |
5: 33,517,722 (GRCm39) |
D87E |
probably benign |
Het |
| Man2a2 |
A |
G |
7: 80,016,674 (GRCm39) |
I380T |
probably damaging |
Het |
| Mprip |
G |
T |
11: 59,627,915 (GRCm39) |
G253W |
probably damaging |
Het |
| Naglu |
G |
A |
11: 100,967,436 (GRCm39) |
R462H |
probably damaging |
Het |
| Nrxn1 |
T |
A |
17: 90,366,979 (GRCm39) |
I342F |
probably damaging |
Het |
| Oosp1 |
C |
A |
19: 11,668,369 (GRCm39) |
V5L |
probably benign |
Het |
| Or10q3 |
A |
T |
19: 11,848,169 (GRCm39) |
M137K |
probably damaging |
Het |
| Or5b113 |
G |
A |
19: 13,342,510 (GRCm39) |
V173I |
probably benign |
Het |
| Or6c74 |
A |
G |
10: 129,869,756 (GRCm39) |
D87G |
probably damaging |
Het |
| Or7g12 |
T |
C |
9: 18,900,216 (GRCm39) |
S311P |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,752,848 (GRCm39) |
M95T |
probably damaging |
Het |
| Pcdh17 |
C |
G |
14: 84,770,425 (GRCm39) |
R968G |
probably damaging |
Het |
| Pcdhb7 |
T |
G |
18: 37,476,915 (GRCm39) |
S684A |
probably damaging |
Het |
| Polr1b |
T |
G |
2: 128,947,200 (GRCm39) |
I175R |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,503,535 (GRCm39) |
D36G |
probably damaging |
Het |
| Prr14l |
G |
A |
5: 33,001,735 (GRCm39) |
|
probably benign |
Het |
| Rcn2 |
A |
T |
9: 55,960,266 (GRCm39) |
I178F |
probably benign |
Het |
| Sbspon |
T |
G |
1: 15,930,543 (GRCm39) |
K148Q |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,338,918 (GRCm39) |
V587E |
probably damaging |
Het |
| Setd7 |
T |
A |
3: 51,444,078 (GRCm39) |
|
probably null |
Het |
| Sh2d5 |
C |
A |
4: 137,984,108 (GRCm39) |
P85T |
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,008,602 (GRCm39) |
V204D |
possibly damaging |
Het |
| Slc2a8 |
G |
A |
2: 32,870,080 (GRCm39) |
R154* |
probably null |
Het |
| Slc36a3 |
C |
T |
11: 55,042,024 (GRCm39) |
G42S |
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,143,296 (GRCm39) |
K751R |
probably benign |
Het |
| Sult2a5 |
T |
A |
7: 13,362,768 (GRCm39) |
|
probably null |
Het |
| Thoc5 |
T |
C |
11: 4,852,306 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,805,381 (GRCm39) |
S153P |
probably damaging |
Het |
| Ubap2 |
A |
T |
4: 41,221,615 (GRCm39) |
L228Q |
probably benign |
Het |
| Upk3b |
G |
A |
5: 136,068,993 (GRCm39) |
G121S |
possibly damaging |
Het |
| Usp1 |
T |
A |
4: 98,820,544 (GRCm39) |
S456R |
probably damaging |
Het |
| Usp28 |
A |
T |
9: 48,915,202 (GRCm39) |
N126Y |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,710,878 (GRCm39) |
V2411M |
possibly damaging |
Het |
| Zfp595 |
C |
T |
13: 67,465,769 (GRCm39) |
E165K |
probably damaging |
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 |
|
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 |
|
|
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'- GAGCATTTCCATTAGCAGGTAAC -3'
(R):5'- TGTATGCCACACCCTGCATG -3'
Sequencing Primer
(F):5'- TTTCCATTAGCAGGTAACAAGCGC -3'
(R):5'- CACCCTGCATGCAAAATGTAATTCTG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation