Incidental Mutation 'IGL01153:Ece2'
| ID |
52982 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ece2
|
| Ensembl Gene |
ENSMUSG00000022842 |
| Gene Name |
endothelin converting enzyme 2 |
| Synonyms |
9630025D12Rik, 6330509A19Rik, 1810009K13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01153
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
20448601-20464665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20451544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 215
(M215K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003898]
[ENSMUST00000079600]
[ENSMUST00000120394]
[ENSMUST00000122306]
[ENSMUST00000133344]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003898
AA Change: M215K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000003898
Gene: ENSMUSG00000022842
AA Change: M215K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
61 |
83 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
115 |
500 |
8.3e-125 |
PFAM |
|
Pfam:Peptidase_M13
|
559 |
762 |
1.1e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079600
AA Change: M333K
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000078550
Gene: ENSMUSG00000115293
AA Change: M333K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_11
|
63 |
158 |
8.5e-8 |
PFAM |
|
transmembrane domain
|
179 |
201 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
233 |
618 |
1.2e-124 |
PFAM |
|
Pfam:Peptidase_M13
|
677 |
880 |
1.4e-66 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120394
AA Change: M362K
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113475
Gene: ENSMUSG00000115293
AA Change: M362K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_18
|
58 |
163 |
1.2e-8 |
PFAM |
|
Pfam:Methyltransf_11
|
63 |
163 |
1.7e-9 |
PFAM |
|
transmembrane domain
|
208 |
230 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
262 |
647 |
5e-109 |
PFAM |
|
Pfam:Peptidase_M13
|
706 |
909 |
9.4e-75 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122306
AA Change: M215K
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114039
Gene: ENSMUSG00000022842
AA Change: M215K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
61 |
83 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
115 |
500 |
6.9e-125 |
PFAM |
|
Pfam:Peptidase_M13
|
559 |
709 |
6e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125971
|
| SMART Domains |
Protein: ENSMUSP00000120239
Gene: ENSMUSG00000022842
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M13_N
|
1 |
261 |
1.3e-71 |
PFAM |
|
Pfam:Peptidase_M13
|
320 |
482 |
3.4e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133344
AA Change: M186K
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000119693
Gene: ENSMUSG00000022842
AA Change: M186K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
86 |
471 |
7.5e-125 |
PFAM |
|
Pfam:Peptidase_M13
|
530 |
733 |
1e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145511
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000121231
Gene: ENSMUSG00000022842
AA Change: M276K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_18
|
2 |
105 |
1.1e-8 |
PFAM |
|
Pfam:Methyltransf_11
|
7 |
103 |
1.7e-9 |
PFAM |
|
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
177 |
562 |
4e-109 |
PFAM |
|
Pfam:Peptidase_M13
|
621 |
824 |
8e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152246
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the M13 family, which includes type 2 integral membrane metallopeptidases. The encoded enzyme is a membrane-bound zinc-dependent metalloprotease. The enzyme catalyzes the cleavage of big endothelin to produce the vasoconstrictor endothelin-1, and plays a role in the processing of several neuroendocrine peptides. It may also have methyltransferase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous mutant mice develop normally, are viable and healthy, and exhibit normal fertility in both sexes, as well as a normal life span. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,567,247 (GRCm39) |
I5309V |
probably benign |
Het |
| Amy1 |
A |
G |
3: 113,349,724 (GRCm39) |
V482A |
possibly damaging |
Het |
| Ankrd22 |
A |
T |
19: 34,106,229 (GRCm39) |
V81E |
probably damaging |
Het |
| Ccr5 |
C |
A |
9: 123,924,649 (GRCm39) |
T84K |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Chchd3 |
A |
T |
6: 32,985,502 (GRCm39) |
|
probably benign |
Het |
| Cpt1c |
C |
T |
7: 44,616,092 (GRCm39) |
E307K |
probably damaging |
Het |
| Cyth2 |
T |
C |
7: 45,457,813 (GRCm39) |
Y120C |
probably damaging |
Het |
| Dnajb11 |
T |
A |
16: 22,681,430 (GRCm39) |
D69E |
probably benign |
Het |
| Enox2 |
C |
A |
X: 48,151,015 (GRCm39) |
|
probably null |
Het |
| Fam120c |
T |
C |
X: 150,182,801 (GRCm39) |
|
probably null |
Het |
| Fam149b |
A |
G |
14: 20,427,949 (GRCm39) |
T319A |
possibly damaging |
Het |
| Fndc1 |
A |
T |
17: 7,998,874 (GRCm39) |
|
probably null |
Het |
| Gcsh |
T |
A |
8: 117,710,549 (GRCm39) |
D138V |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,837,321 (GRCm39) |
H331Q |
probably benign |
Het |
| Iars1 |
A |
G |
13: 49,865,281 (GRCm39) |
N586D |
probably damaging |
Het |
| Idh3g |
A |
G |
X: 72,823,668 (GRCm39) |
V280A |
probably damaging |
Het |
| Kctd18 |
A |
G |
1: 58,004,550 (GRCm39) |
S115P |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,090,370 (GRCm39) |
|
probably null |
Het |
| Lyset |
T |
A |
12: 102,711,135 (GRCm39) |
Y119* |
probably null |
Het |
| Mael |
T |
C |
1: 166,029,919 (GRCm39) |
K334E |
possibly damaging |
Het |
| Me3 |
A |
C |
7: 89,498,844 (GRCm39) |
T475P |
probably damaging |
Het |
| Mrpl18 |
A |
G |
17: 13,134,693 (GRCm39) |
L24P |
possibly damaging |
Het |
| Nol4 |
C |
A |
18: 22,902,850 (GRCm39) |
R460L |
probably damaging |
Het |
| Numa1 |
A |
T |
7: 101,643,951 (GRCm39) |
E181V |
probably damaging |
Het |
| Or6c2 |
T |
A |
10: 129,362,864 (GRCm39) |
I256N |
probably damaging |
Het |
| Pex2 |
A |
T |
3: 5,626,424 (GRCm39) |
H128Q |
probably benign |
Het |
| Pex3 |
A |
T |
10: 13,428,597 (GRCm39) |
|
probably null |
Het |
| Psmb8 |
A |
G |
17: 34,420,215 (GRCm39) |
Y269C |
possibly damaging |
Het |
| Sh2d3c |
A |
G |
2: 32,615,096 (GRCm39) |
K62R |
probably benign |
Het |
| Strn4 |
G |
A |
7: 16,571,846 (GRCm39) |
G613D |
probably damaging |
Het |
| Taok2 |
A |
G |
7: 126,470,204 (GRCm39) |
W875R |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,845,451 (GRCm39) |
D149G |
possibly damaging |
Het |
| Zfp473 |
A |
G |
7: 44,383,992 (GRCm39) |
S113P |
probably damaging |
Het |
| Zfp768 |
A |
G |
7: 126,943,703 (GRCm39) |
Y145H |
possibly damaging |
Het |
| Zgrf1 |
G |
A |
3: 127,396,055 (GRCm39) |
G534R |
probably damaging |
Het |
|
| Other mutations in Ece2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01644:Ece2
|
APN |
16 |
20,436,616 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02414:Ece2
|
APN |
16 |
20,459,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02754:Ece2
|
APN |
16 |
20,451,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03368:Ece2
|
APN |
16 |
20,462,908 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03383:Ece2
|
APN |
16 |
20,451,847 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0063:Ece2
|
UTSW |
16 |
20,461,067 (GRCm39) |
missense |
probably benign |
|
|
R0063:Ece2
|
UTSW |
16 |
20,461,067 (GRCm39) |
missense |
probably benign |
|
|
R0750:Ece2
|
UTSW |
16 |
20,451,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1304:Ece2
|
UTSW |
16 |
20,430,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1500:Ece2
|
UTSW |
16 |
20,462,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Ece2
|
UTSW |
16 |
20,461,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1667:Ece2
|
UTSW |
16 |
20,456,588 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1702:Ece2
|
UTSW |
16 |
20,449,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1903:Ece2
|
UTSW |
16 |
20,463,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1937:Ece2
|
UTSW |
16 |
20,436,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2014:Ece2
|
UTSW |
16 |
20,461,067 (GRCm39) |
missense |
probably benign |
|
|
R4393:Ece2
|
UTSW |
16 |
20,451,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4678:Ece2
|
UTSW |
16 |
20,459,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4839:Ece2
|
UTSW |
16 |
20,449,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4857:Ece2
|
UTSW |
16 |
20,436,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4871:Ece2
|
UTSW |
16 |
20,462,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Ece2
|
UTSW |
16 |
20,449,972 (GRCm39) |
nonsense |
probably null |
|
|
R4914:Ece2
|
UTSW |
16 |
20,462,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Ece2
|
UTSW |
16 |
20,437,381 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5218:Ece2
|
UTSW |
16 |
20,437,290 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5642:Ece2
|
UTSW |
16 |
20,462,477 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5911:Ece2
|
UTSW |
16 |
20,457,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6037:Ece2
|
UTSW |
16 |
20,449,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6037:Ece2
|
UTSW |
16 |
20,449,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6253:Ece2
|
UTSW |
16 |
20,457,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8159:Ece2
|
UTSW |
16 |
20,430,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation