Incidental Mutation 'IGL03383:Ece2'
| ID |
420774 |
| 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 # |
IGL03383
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
20448601-20464665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20451847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 411
(N411K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113475
(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: N264K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000003898
Gene: ENSMUSG00000022842
AA Change: N264K
| 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: N382K
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000078550
Gene: ENSMUSG00000115293
AA Change: N382K
| 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: N411K
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113475
Gene: ENSMUSG00000115293
AA Change: N411K
| 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: N264K
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114039
Gene: ENSMUSG00000022842
AA Change: N264K
| 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 |
unknown
Transcript: ENSMUST00000125971
AA Change: N24K
|
| SMART Domains |
Protein: ENSMUSP00000120239
Gene: ENSMUSG00000022842
AA Change: N24K
| 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: N235K
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000119693
Gene: ENSMUSG00000022842
AA Change: N235K
| 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: N325K
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl4 |
C |
T |
4: 111,514,620 (GRCm39) |
|
probably benign |
Het |
| Cit |
T |
C |
5: 116,011,904 (GRCm39) |
|
probably benign |
Het |
| Clmp |
A |
G |
9: 40,685,737 (GRCm39) |
N211S |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,330,722 (GRCm39) |
|
probably benign |
Het |
| Cntn6 |
A |
G |
6: 104,753,418 (GRCm39) |
|
probably benign |
Het |
| Dnajb9 |
C |
T |
12: 44,255,096 (GRCm39) |
|
probably benign |
Het |
| Fshr |
A |
G |
17: 89,354,127 (GRCm39) |
I77T |
possibly damaging |
Het |
| Fshr |
A |
G |
17: 89,293,121 (GRCm39) |
M519T |
probably damaging |
Het |
| Gm10654 |
G |
A |
8: 71,384,775 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5093 |
A |
G |
17: 46,750,517 (GRCm39) |
I170T |
probably benign |
Het |
| Meis3 |
A |
G |
7: 15,917,744 (GRCm39) |
K299R |
probably damaging |
Het |
| Nxf1 |
T |
C |
19: 8,741,061 (GRCm39) |
F15L |
probably damaging |
Het |
| Nxpe3 |
T |
C |
16: 55,670,076 (GRCm39) |
D343G |
probably benign |
Het |
| Or4a73 |
A |
T |
2: 89,420,656 (GRCm39) |
Y268N |
probably benign |
Het |
| Polr3k |
A |
G |
2: 181,507,820 (GRCm39) |
T65A |
probably damaging |
Het |
| Preb |
A |
T |
5: 31,115,665 (GRCm39) |
W222R |
probably damaging |
Het |
| Psmd11 |
T |
C |
11: 80,360,671 (GRCm39) |
I56T |
probably damaging |
Het |
| Rtkn2 |
A |
G |
10: 67,853,667 (GRCm39) |
T232A |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,318,064 (GRCm39) |
|
probably null |
Het |
| Slc4a10 |
A |
T |
2: 62,097,780 (GRCm39) |
K493M |
probably damaging |
Het |
| Stard10 |
A |
G |
7: 100,991,777 (GRCm39) |
K112E |
probably damaging |
Het |
| Sugp1 |
A |
T |
8: 70,522,217 (GRCm39) |
|
probably benign |
Het |
| Tasor |
A |
G |
14: 27,163,918 (GRCm39) |
I235V |
possibly damaging |
Het |
| Tmem156 |
T |
C |
5: 65,233,040 (GRCm39) |
E139G |
probably damaging |
Het |
| Tubd1 |
C |
T |
11: 86,439,834 (GRCm39) |
|
probably benign |
Het |
| Uap1 |
G |
A |
1: 169,986,460 (GRCm39) |
T174M |
probably damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,304,398 (GRCm39) |
T678A |
probably damaging |
Het |
| Vmn2r84 |
A |
T |
10: 130,222,556 (GRCm39) |
C555S |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,894,889 (GRCm39) |
|
probably null |
Het |
| Vps8 |
T |
C |
16: 21,254,573 (GRCm39) |
|
probably null |
Het |
| Wee1 |
A |
G |
7: 109,738,899 (GRCm39) |
N590S |
probably damaging |
Het |
| Zfp112 |
C |
A |
7: 23,825,103 (GRCm39) |
S357Y |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,586,080 (GRCm39) |
K48* |
probably null |
Het |
| Zscan4d |
A |
G |
7: 10,896,692 (GRCm39) |
V226A |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation