Incidental Mutation 'R4818:Edem3'
| ID |
369969 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4818 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
100% (73/73) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,571,810 (GRCm39) |
E562G |
probably benign |
Het |
| 5730522E02Rik |
A |
G |
11: 25,720,472 (GRCm39) |
|
probably null |
Het |
| A930033H14Rik |
A |
T |
10: 69,048,190 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
C |
T |
17: 24,536,135 (GRCm39) |
E511K |
probably damaging |
Het |
| Abca9 |
C |
T |
11: 110,045,980 (GRCm39) |
|
probably null |
Het |
| Abhd5 |
T |
A |
9: 122,192,865 (GRCm39) |
|
probably null |
Het |
| Adra2b |
G |
A |
2: 127,206,012 (GRCm39) |
W171* |
probably null |
Het |
| Ahcyl |
G |
A |
16: 45,974,555 (GRCm39) |
T274I |
probably damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,573,897 (GRCm39) |
Y799H |
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,286,772 (GRCm39) |
V46A |
probably benign |
Het |
| Arhgap40 |
A |
G |
2: 158,381,639 (GRCm39) |
E374G |
probably damaging |
Het |
| Arhgef5 |
G |
A |
6: 43,250,484 (GRCm39) |
V412I |
probably benign |
Het |
| Arid3c |
T |
C |
4: 41,730,072 (GRCm39) |
E41G |
possibly damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,164,736 (GRCm39) |
K1193N |
probably benign |
Het |
| C4a |
C |
T |
17: 35,035,975 (GRCm39) |
|
noncoding transcript |
Het |
| Chst2 |
C |
T |
9: 95,287,417 (GRCm39) |
D310N |
probably damaging |
Het |
| Crtc3 |
T |
C |
7: 80,327,170 (GRCm39) |
Q52R |
possibly damaging |
Het |
| Crybg1 |
T |
C |
10: 43,874,583 (GRCm39) |
I842V |
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,743,511 (GRCm39) |
S1167P |
probably benign |
Het |
| Epha10 |
T |
A |
4: 124,780,007 (GRCm39) |
|
probably null |
Het |
| Epha6 |
C |
A |
16: 59,474,426 (GRCm39) |
R1117L |
probably damaging |
Het |
| Fdx2 |
T |
C |
9: 20,979,160 (GRCm39) |
I144V |
possibly damaging |
Het |
| Gm10762 |
C |
T |
2: 128,809,106 (GRCm39) |
W81* |
probably null |
Het |
| Hus1 |
A |
G |
11: 8,946,808 (GRCm39) |
|
probably benign |
Het |
| Igbp1b |
C |
T |
6: 138,634,803 (GRCm39) |
E214K |
probably benign |
Het |
| Inpp5f |
A |
G |
7: 128,286,853 (GRCm39) |
I577M |
probably damaging |
Het |
| Kansl2 |
G |
A |
15: 98,424,542 (GRCm39) |
T296I |
possibly damaging |
Het |
| Kcna6 |
A |
G |
6: 126,715,387 (GRCm39) |
F501L |
probably benign |
Het |
| Kirrel2 |
A |
T |
7: 30,149,293 (GRCm39) |
V579D |
probably benign |
Het |
| Larp1b |
T |
C |
3: 40,925,005 (GRCm39) |
Y208H |
probably damaging |
Het |
| Lipf |
A |
T |
19: 33,943,088 (GRCm39) |
D132V |
probably benign |
Het |
| Lsm12 |
T |
C |
11: 102,057,989 (GRCm39) |
K40E |
probably damaging |
Het |
| Mastl |
A |
G |
2: 23,027,038 (GRCm39) |
S275P |
probably benign |
Het |
| Mettl25b |
C |
A |
3: 87,832,305 (GRCm39) |
R293L |
probably benign |
Het |
| Mrpl44 |
A |
G |
1: 79,758,694 (GRCm39) |
I281V |
probably benign |
Het |
| Mtf1 |
T |
A |
4: 124,698,505 (GRCm39) |
M1K |
probably null |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Myh2 |
G |
A |
11: 67,067,081 (GRCm39) |
G179R |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,531,568 (GRCm39) |
T739A |
possibly damaging |
Het |
| Nfatc3 |
G |
A |
8: 106,835,011 (GRCm39) |
V778I |
probably benign |
Het |
| Notch4 |
A |
G |
17: 34,797,690 (GRCm39) |
|
probably benign |
Het |
| Npm2 |
T |
C |
14: 70,889,842 (GRCm39) |
N24S |
probably benign |
Het |
| Obox7 |
T |
A |
7: 14,398,410 (GRCm39) |
L108Q |
probably damaging |
Het |
| Or51ah3 |
T |
A |
7: 103,209,968 (GRCm39) |
F95I |
probably benign |
Het |
| Pax3 |
A |
G |
1: 78,108,869 (GRCm39) |
V263A |
probably damaging |
Het |
| Pdlim1 |
C |
T |
19: 40,211,580 (GRCm39) |
V238I |
probably damaging |
Het |
| Pik3ip1 |
G |
A |
11: 3,280,928 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,546,442 (GRCm39) |
V284A |
possibly damaging |
Het |
| Rad9b |
G |
A |
5: 122,477,839 (GRCm39) |
T179I |
probably damaging |
Het |
| Sirt4 |
G |
T |
5: 115,617,785 (GRCm39) |
D290E |
possibly damaging |
Het |
| Skint6 |
T |
A |
4: 112,812,589 (GRCm39) |
|
probably benign |
Het |
| Slc18a1 |
A |
C |
8: 69,492,951 (GRCm39) |
I466S |
probably damaging |
Het |
| Slc35e4 |
C |
T |
11: 3,862,889 (GRCm39) |
R100H |
probably benign |
Het |
| Sptbn5 |
T |
G |
2: 119,898,449 (GRCm39) |
K470Q |
probably benign |
Het |
| Tas1r1 |
C |
G |
4: 152,117,131 (GRCm39) |
V168L |
probably benign |
Het |
| Tmem233 |
T |
A |
5: 116,221,222 (GRCm39) |
Q8L |
possibly damaging |
Het |
| Ttc17 |
G |
T |
2: 94,163,236 (GRCm39) |
Q862K |
possibly damaging |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
| Zfp1004 |
T |
A |
2: 150,033,981 (GRCm39) |
C132S |
probably damaging |
Het |
| Zfp229 |
T |
C |
17: 21,962,885 (GRCm39) |
I68T |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,631,128 (GRCm39) |
V30A |
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 |
|
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 |
|
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'- AGCAGATAGGGTTGTAATTCTAGAG -3'
(R):5'- GTGAGAGCTGACAAAACACTAC -3'
Sequencing Primer
(F):5'- TTTAATCCCAGCACTCAGGAGG -3'
(R):5'- TGAGAGCTGACAAAACACTACAACAC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation