Incidental Mutation 'IGL01644:Ece2'
| ID |
102597 |
| 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 # |
IGL01644
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
20448601-20464665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20436616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 146
(V146A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052939]
[ENSMUST00000079600]
[ENSMUST00000115522]
[ENSMUST00000119224]
[ENSMUST00000120394]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052939
|
| SMART Domains |
Protein: ENSMUSP00000057368
Gene: ENSMUSG00000051146
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CaM-KIIN
|
1 |
79 |
1.6e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079600
AA Change: V146A
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000078550
Gene: ENSMUSG00000115293
AA Change: V146A
| 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: ENSMUST00000115522
AA Change: V146A
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111184
Gene: ENSMUSG00000115219
AA Change: V146A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_18
|
58 |
176 |
5.9e-11 |
PFAM |
|
Pfam:Methyltransf_31
|
58 |
208 |
1.5e-10 |
PFAM |
|
Pfam:Methyltransf_25
|
62 |
169 |
1.4e-7 |
PFAM |
|
Pfam:Methyltransf_12
|
63 |
171 |
4.5e-9 |
PFAM |
|
Pfam:Methyltransf_11
|
63 |
173 |
2.8e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119224
AA Change: V146A
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113772
Gene: ENSMUSG00000115219
AA Change: V146A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_18
|
58 |
166 |
1.9e-8 |
PFAM |
|
Pfam:Methyltransf_25
|
62 |
142 |
1.7e-7 |
PFAM |
|
Pfam:Methyltransf_11
|
63 |
164 |
5.7e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120394
AA Change: V146A
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113475
Gene: ENSMUSG00000115293
AA Change: V146A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000121231
Gene: ENSMUSG00000022842
AA Change: V89A
| 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 |
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg16l2 |
A |
G |
7: 100,946,424 (GRCm39) |
*82R |
probably null |
Het |
| Crb1 |
T |
A |
1: 139,165,368 (GRCm39) |
R919* |
probably null |
Het |
| Csf1 |
T |
C |
3: 107,661,158 (GRCm39) |
T120A |
possibly damaging |
Het |
| Defa29 |
A |
T |
8: 21,816,137 (GRCm39) |
C77S |
possibly damaging |
Het |
| Defb7 |
A |
T |
8: 19,547,717 (GRCm39) |
|
probably benign |
Het |
| Efcab6 |
T |
A |
15: 83,917,273 (GRCm39) |
S96C |
probably damaging |
Het |
| Gm7729 |
T |
C |
18: 27,731,872 (GRCm39) |
|
noncoding transcript |
Het |
| Hapln2 |
G |
T |
3: 87,929,944 (GRCm39) |
R311S |
probably damaging |
Het |
| Impg2 |
C |
T |
16: 56,080,233 (GRCm39) |
P679L |
probably benign |
Het |
| Kansl1l |
A |
G |
1: 66,840,475 (GRCm39) |
I275T |
probably benign |
Het |
| Med29 |
A |
G |
7: 28,090,272 (GRCm39) |
F108L |
probably damaging |
Het |
| Nrxn1 |
C |
T |
17: 90,928,301 (GRCm39) |
C789Y |
possibly damaging |
Het |
| Or10w1 |
A |
T |
19: 13,632,768 (GRCm39) |
|
probably benign |
Het |
| Or4c123 |
T |
C |
2: 89,126,976 (GRCm39) |
I213V |
probably benign |
Het |
| Palld |
T |
C |
8: 62,330,512 (GRCm39) |
K122E |
probably benign |
Het |
| Ppl |
A |
T |
16: 4,909,719 (GRCm39) |
L864H |
probably damaging |
Het |
| Ptov1 |
C |
A |
7: 44,516,926 (GRCm39) |
E37* |
probably null |
Het |
| Sspo |
T |
C |
6: 48,429,436 (GRCm39) |
V482A |
probably benign |
Het |
| St7l |
C |
T |
3: 104,826,772 (GRCm39) |
R377* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,585,727 (GRCm39) |
P13643T |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,836,794 (GRCm39) |
T2917S |
probably benign |
Het |
|
| Other mutations in Ece2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01153:Ece2
|
APN |
16 |
20,451,544 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
2014-01-21 |
Incidental Mutation