Incidental Mutation 'R6037:Ece2'
| ID |
501753 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ece2
|
| Ensembl Gene |
ENSMUSG00000022842 |
| Gene Name |
endothelin converting enzyme 2 |
| Synonyms |
9630025D12Rik, 6330509A19Rik, 1810009K13Rik |
| MMRRC Submission |
043258-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6037 (G1)
|
| Quality Score |
217.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
20448601-20464665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20449112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 17
(Y17C)
|
| 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 damaging
Transcript: ENSMUST00000003898
AA Change: Y17C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003898
Gene: ENSMUSG00000022842
AA Change: Y17C
| 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
|
| SMART Domains |
Protein: ENSMUSP00000078550
Gene: ENSMUSG00000115293
| 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 |
probably damaging
Transcript: ENSMUST00000120394
AA Change: Y164C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113475
Gene: ENSMUSG00000115293
AA Change: Y164C
| 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 |
probably damaging
Transcript: ENSMUST00000122306
AA Change: Y17C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114039
Gene: ENSMUSG00000022842
AA Change: Y17C
| 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
|
| SMART Domains |
Protein: ENSMUSP00000119693
Gene: ENSMUSG00000022842
| 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 |
noncoding transcript
Transcript: ENSMUST00000152246
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.0%
- 10x: 92.4%
- 20x: 72.6%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Abi2 |
C |
A |
1: 60,503,738 (GRCm39) |
P212T |
probably damaging |
Het |
| Ano4 |
A |
G |
10: 89,153,108 (GRCm39) |
F68S |
possibly damaging |
Het |
| Art5 |
C |
A |
7: 101,747,591 (GRCm39) |
A63S |
probably benign |
Het |
| Asgr1 |
T |
A |
11: 69,947,247 (GRCm39) |
S96R |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,163,957 (GRCm39) |
V2248D |
possibly damaging |
Het |
| Cacna1s |
C |
T |
1: 135,998,705 (GRCm39) |
A200V |
possibly damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,390,738 (GRCm39) |
K357E |
probably damaging |
Het |
| Cdhr18 |
T |
C |
14: 13,864,282 (GRCm38) |
N348S |
probably damaging |
Het |
| Cfap52 |
C |
T |
11: 67,837,126 (GRCm39) |
G212R |
probably benign |
Het |
| Dcun1d3 |
A |
G |
7: 119,456,965 (GRCm39) |
F249S |
probably damaging |
Het |
| Efemp1 |
C |
T |
11: 28,871,760 (GRCm39) |
T425I |
probably damaging |
Het |
| Eprs1 |
A |
G |
1: 185,128,306 (GRCm39) |
E562G |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,177,295 (GRCm39) |
T2001A |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,527,867 (GRCm39) |
R940H |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,351,644 (GRCm39) |
M1716K |
probably benign |
Het |
| Gm10684 |
T |
A |
9: 45,019,039 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,311,416 (GRCm39) |
V1219I |
probably damaging |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Il23r |
C |
T |
6: 67,455,938 (GRCm39) |
V177M |
probably damaging |
Het |
| Klf12 |
T |
C |
14: 100,137,650 (GRCm39) |
S299G |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,848,806 (GRCm39) |
R265C |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,216,424 (GRCm39) |
T800A |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,063,831 (GRCm39) |
L2729P |
probably damaging |
Het |
| Mki67 |
A |
C |
7: 135,298,532 (GRCm39) |
S2167R |
possibly damaging |
Het |
| Mus81 |
T |
C |
19: 5,534,032 (GRCm39) |
K400E |
probably damaging |
Het |
| Nomo1 |
T |
A |
7: 45,712,423 (GRCm39) |
I656N |
possibly damaging |
Het |
| Oas3 |
T |
C |
5: 120,907,384 (GRCm39) |
T418A |
probably benign |
Het |
| Olr1 |
A |
G |
6: 129,470,504 (GRCm39) |
L221P |
probably damaging |
Het |
| Or14c44 |
C |
T |
7: 86,062,478 (GRCm39) |
L303F |
probably benign |
Het |
| Or5m9 |
T |
C |
2: 85,876,928 (GRCm39) |
M34T |
probably benign |
Het |
| Or8b3 |
T |
A |
9: 38,314,601 (GRCm39) |
C144S |
probably benign |
Het |
| Or8g22 |
A |
G |
9: 38,958,403 (GRCm39) |
V104A |
probably damaging |
Het |
| Or8k28 |
T |
A |
2: 86,286,133 (GRCm39) |
I161L |
probably benign |
Het |
| Pih1d1 |
C |
T |
7: 44,805,738 (GRCm39) |
A69V |
probably damaging |
Het |
| Pkdrej |
A |
C |
15: 85,703,967 (GRCm39) |
S656R |
probably damaging |
Het |
| Polr3f |
A |
G |
2: 144,377,943 (GRCm39) |
D171G |
probably damaging |
Het |
| Rasal1 |
T |
C |
5: 120,787,566 (GRCm39) |
V11A |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
T |
A |
7: 27,063,595 (GRCm39) |
Y2277F |
probably damaging |
Het |
| St6galnac6 |
A |
G |
2: 32,502,240 (GRCm39) |
Q7R |
probably damaging |
Het |
| Thrsp |
T |
G |
7: 97,066,499 (GRCm39) |
D71A |
possibly damaging |
Het |
| Vmn2r1 |
C |
A |
3: 63,989,150 (GRCm39) |
Q30K |
probably benign |
Het |
| Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
| Wipf2 |
C |
T |
11: 98,787,005 (GRCm39) |
P345S |
probably benign |
Het |
| Zeb2 |
G |
T |
2: 44,878,652 (GRCm39) |
S1170* |
probably null |
Het |
| Zfp947 |
A |
G |
17: 22,366,415 (GRCm39) |
Y38H |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2017-12-01 |
Incidental Mutation