Incidental Mutation 'R9193:Edem3'
| ID |
697780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Edem3
|
| Ensembl Gene |
ENSMUSG00000043019 |
| Gene Name |
ER degradation enhancer, mannosidase alpha-like 3 |
| Synonyms |
2310050N11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.394)
|
| Stock # |
R9193 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
151631122-151697802 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 151694270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 868
(E868K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059498]
[ENSMUST00000187951]
[ENSMUST00000188145]
[ENSMUST00000191070]
|
| AlphaFold |
Q2HXL6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059498
AA Change: E868K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000058941
Gene: ENSMUSG00000043019
AA Change: E868K
| 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: E850K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000140775
Gene: ENSMUSG00000043019
AA Change: E850K
| 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: E884K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140443
Gene: ENSMUSG00000043019
AA Change: E884K
| 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: E854K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000140234
Gene: ENSMUSG00000043019
AA Change: E854K
| 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: 99.3%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak1 |
A |
T |
2: 32,520,391 (GRCm39) |
K79M |
probably benign |
Het |
| Amy1 |
T |
C |
3: 113,356,278 (GRCm39) |
K293E |
probably benign |
Het |
| Bcl2l10 |
A |
G |
9: 75,255,333 (GRCm39) |
Q50R |
probably benign |
Het |
| Bpifa6 |
G |
A |
2: 153,826,740 (GRCm39) |
G35D |
probably benign |
Het |
| Cachd1 |
C |
A |
4: 100,634,339 (GRCm39) |
P5Q |
unknown |
Het |
| Capn13 |
A |
T |
17: 73,652,191 (GRCm39) |
I266N |
probably damaging |
Het |
| Chil3 |
A |
G |
3: 106,063,081 (GRCm39) |
S170P |
possibly damaging |
Het |
| Ckap4 |
A |
G |
10: 84,363,350 (GRCm39) |
I571T |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,242,964 (GRCm39) |
M371V |
unknown |
Het |
| Dag1 |
A |
G |
9: 108,085,467 (GRCm39) |
L558P |
possibly damaging |
Het |
| Eif3k |
T |
C |
7: 28,673,624 (GRCm39) |
Y150C |
probably damaging |
Het |
| Farp1 |
T |
C |
14: 121,518,281 (GRCm39) |
I988T |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,910,248 (GRCm39) |
M1918T |
probably benign |
Het |
| Gba2 |
A |
G |
4: 43,578,112 (GRCm39) |
I79T |
probably benign |
Het |
| Gbp8 |
T |
C |
5: 105,179,169 (GRCm39) |
D110G |
probably damaging |
Het |
| Gm57858 |
G |
T |
3: 36,089,428 (GRCm39) |
N165K |
probably benign |
Het |
| H2-M2 |
T |
A |
17: 37,793,428 (GRCm39) |
M193L |
probably benign |
Het |
| H2-T13 |
A |
G |
17: 36,391,956 (GRCm39) |
V39A |
possibly damaging |
Het |
| Ighv7-1 |
T |
A |
12: 113,860,110 (GRCm39) |
D94V |
probably damaging |
Het |
| Il2ra |
T |
C |
2: 11,689,202 (GRCm39) |
F244L |
possibly damaging |
Het |
| Jag1 |
A |
T |
2: 136,931,764 (GRCm39) |
H602Q |
probably null |
Het |
| Kidins220 |
A |
T |
12: 25,036,966 (GRCm39) |
I16F |
possibly damaging |
Het |
| Klb |
A |
G |
5: 65,529,368 (GRCm39) |
T299A |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,951,444 (GRCm39) |
K1063R |
probably benign |
Het |
| Lrit2 |
A |
G |
14: 36,794,550 (GRCm39) |
E538G |
possibly damaging |
Het |
| Lrrc7 |
A |
T |
3: 158,059,011 (GRCm39) |
L32* |
probably null |
Het |
| Lrrtm3 |
A |
T |
10: 63,765,883 (GRCm39) |
I568N |
probably damaging |
Het |
| Myom1 |
A |
G |
17: 71,343,295 (GRCm39) |
D164G |
probably damaging |
Het |
| Naaladl2 |
T |
C |
3: 23,900,742 (GRCm39) |
D696G |
probably damaging |
Het |
| Nalcn |
A |
T |
14: 123,545,792 (GRCm39) |
L1073* |
probably null |
Het |
| Nid2 |
T |
C |
14: 19,853,278 (GRCm39) |
S1166P |
probably damaging |
Het |
| Nlrp4c |
T |
C |
7: 6,095,621 (GRCm39) |
V833A |
probably benign |
Het |
| Nyap2 |
T |
C |
1: 81,275,712 (GRCm39) |
S619P |
probably damaging |
Het |
| Or10d5j |
T |
C |
9: 39,867,878 (GRCm39) |
M118V |
probably damaging |
Het |
| Or2a20 |
A |
T |
6: 43,194,086 (GRCm39) |
T80S |
probably benign |
Het |
| Or4a71 |
A |
G |
2: 89,357,987 (GRCm39) |
Y256H |
probably damaging |
Het |
| Or8k16 |
C |
A |
2: 85,520,644 (GRCm39) |
Y290* |
probably null |
Het |
| P3h2 |
T |
C |
16: 25,923,991 (GRCm39) |
N148S |
probably benign |
Het |
| P4htm |
A |
G |
9: 108,460,081 (GRCm39) |
M231T |
probably damaging |
Het |
| Pank1 |
T |
A |
19: 34,804,634 (GRCm39) |
K349I |
possibly damaging |
Het |
| Pgam5 |
A |
G |
5: 110,413,466 (GRCm39) |
Y210H |
probably benign |
Het |
| Prb1b |
T |
C |
6: 132,288,996 (GRCm39) |
H276R |
unknown |
Het |
| Prl2a1 |
T |
A |
13: 27,992,535 (GRCm39) |
C220S |
probably damaging |
Het |
| Psca |
C |
T |
15: 74,587,932 (GRCm39) |
Q39* |
probably null |
Het |
| Rgs20 |
A |
T |
1: 5,091,067 (GRCm39) |
M121K |
possibly damaging |
Het |
| S100z |
C |
T |
13: 95,613,883 (GRCm39) |
V76M |
possibly damaging |
Het |
| Slc30a10 |
T |
C |
1: 185,195,034 (GRCm39) |
I282T |
probably damaging |
Het |
| Slc30a3 |
T |
C |
5: 31,246,088 (GRCm39) |
Y214C |
probably damaging |
Het |
| Sox5 |
C |
T |
6: 143,790,570 (GRCm39) |
E497K |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,519 (GRCm39) |
D284G |
probably benign |
Het |
| Sptbn1 |
C |
T |
11: 30,087,551 (GRCm39) |
E963K |
possibly damaging |
Het |
| Srl |
T |
C |
16: 4,311,723 (GRCm39) |
E465G |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,228,304 (GRCm39) |
M1663T |
probably benign |
Het |
| Tas2r119 |
T |
G |
15: 32,177,932 (GRCm39) |
V166G |
probably benign |
Het |
| Tcf7l1 |
A |
G |
6: 72,611,205 (GRCm39) |
V191A |
probably damaging |
Het |
| Thap7 |
A |
T |
16: 17,346,901 (GRCm39) |
I92K |
probably damaging |
Het |
| Tnfsf10 |
A |
G |
3: 27,371,407 (GRCm39) |
T38A |
possibly damaging |
Het |
| Trav7-5 |
C |
G |
14: 53,768,615 (GRCm39) |
A61G |
probably benign |
Het |
| Trim30c |
C |
T |
7: 104,031,553 (GRCm39) |
V421I |
probably benign |
Het |
| Ugt2b38 |
A |
T |
5: 87,571,729 (GRCm39) |
M101K |
probably benign |
Het |
| Vmn1r44 |
T |
A |
6: 89,870,565 (GRCm39) |
C104S |
probably damaging |
Het |
| Wdr74 |
T |
A |
19: 8,715,240 (GRCm39) |
V133E |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,580,600 (GRCm39) |
Y33F |
possibly 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 |
|
|
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 |
|
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'- GACCAGCCATCTTCTGAAAATG -3'
(R):5'- CACCAGAGTCTTTCCAGAGAG -3'
Sequencing Primer
(F):5'- GATTCTCAGAATCAGAGCGCAG -3'
(R):5'- CCAGAGTCTTTCCAGAGAGTCATAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation