Incidental Mutation 'R8294:Ece1'
| ID |
638840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ece1
|
| Ensembl Gene |
ENSMUSG00000057530 |
| Gene Name |
endothelin converting enzyme 1 |
| Synonyms |
|
| MMRRC Submission |
067784-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.800)
|
| Stock # |
R8294 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
137589548-137692540 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 137675931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 435
(V435A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102518]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102518
AA Change: V435A
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099576
Gene: ENSMUSG00000057530
AA Change: V435A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
105 |
490 |
1.2e-112 |
PFAM |
|
Pfam:Peptidase_M13
|
549 |
752 |
1.8e-77 |
PFAM |
|
| Meta Mutation Damage Score |
0.8316 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for targeted null mutations show cardiac and craniofacial abnormalities and embryonic mortality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,897,217 (GRCm39) |
V632A |
possibly damaging |
Het |
| Abcf2 |
CAT |
CATAAT |
5: 24,781,589 (GRCm39) |
|
probably benign |
Het |
| Acat2 |
T |
C |
17: 13,175,243 (GRCm39) |
I79V |
probably benign |
Het |
| Arid3a |
A |
T |
10: 79,786,535 (GRCm39) |
|
silent |
Het |
| Cecr2 |
C |
T |
6: 120,710,747 (GRCm39) |
A154V |
probably damaging |
Het |
| Cog3 |
A |
C |
14: 75,954,619 (GRCm39) |
L650R |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,606,594 (GRCm39) |
F610I |
possibly damaging |
Het |
| Col24a1 |
A |
G |
3: 145,186,844 (GRCm39) |
D1215G |
probably null |
Het |
| Ctsh |
C |
G |
9: 89,950,489 (GRCm39) |
A219G |
possibly damaging |
Het |
| Dnah10 |
C |
T |
5: 124,859,410 (GRCm39) |
L2126F |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,488,079 (GRCm39) |
V2028A |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| H4c1 |
A |
G |
13: 23,944,957 (GRCm39) |
F62L |
probably damaging |
Het |
| Hk1 |
T |
G |
10: 62,131,624 (GRCm39) |
I245L |
probably benign |
Het |
| Hyal6 |
A |
C |
6: 24,734,378 (GRCm39) |
K104Q |
possibly damaging |
Het |
| Kalrn |
T |
C |
16: 33,853,954 (GRCm39) |
I2017V |
probably benign |
Het |
| Khdc4 |
C |
T |
3: 88,603,915 (GRCm39) |
A244V |
probably damaging |
Het |
| Krt72 |
A |
T |
15: 101,694,472 (GRCm39) |
L141Q |
probably damaging |
Het |
| Map3k4 |
C |
A |
17: 12,537,500 (GRCm39) |
A6S |
unknown |
Het |
| Muc6 |
T |
C |
7: 141,217,263 (GRCm39) |
Y2470C |
possibly damaging |
Het |
| Nrip1 |
A |
G |
16: 76,089,418 (GRCm39) |
V713A |
probably damaging |
Het |
| Or10q1b |
A |
G |
19: 13,683,010 (GRCm39) |
D273G |
probably benign |
Het |
| Or11g26 |
A |
G |
14: 50,753,083 (GRCm39) |
T141A |
possibly damaging |
Het |
| Or2ah1 |
T |
A |
2: 85,653,531 (GRCm39) |
I72N |
probably damaging |
Het |
| Or6aa1 |
T |
C |
7: 86,044,487 (GRCm39) |
Y73C |
probably damaging |
Het |
| Paip1 |
C |
T |
13: 119,587,300 (GRCm39) |
T304I |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,674,694 (GRCm39) |
L74P |
probably damaging |
Het |
| Prkch |
T |
A |
12: 73,806,484 (GRCm39) |
L577H |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,416,220 (GRCm39) |
S1631P |
probably benign |
Het |
| Rph3a |
A |
G |
5: 121,099,429 (GRCm39) |
F154S |
probably damaging |
Het |
| S1pr5 |
A |
G |
9: 21,156,300 (GRCm39) |
V42A |
possibly damaging |
Het |
| Scaper |
G |
A |
9: 55,517,280 (GRCm39) |
L1052F |
possibly damaging |
Het |
| Slc44a2 |
G |
T |
9: 21,259,643 (GRCm39) |
V597F |
probably damaging |
Het |
| Srsf1 |
T |
A |
11: 87,939,467 (GRCm39) |
S116T |
probably benign |
Het |
| Ssh2 |
A |
G |
11: 77,345,027 (GRCm39) |
D1004G |
probably benign |
Het |
| St3gal5 |
T |
A |
6: 72,074,816 (GRCm39) |
D25E |
|
Het |
| Syt17 |
A |
T |
7: 118,009,228 (GRCm39) |
Y327N |
probably damaging |
Het |
| T |
T |
A |
17: 8,653,364 (GRCm39) |
M1K |
probably null |
Het |
| Tmem201 |
A |
T |
4: 149,815,554 (GRCm39) |
I132N |
possibly damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,868,176 (GRCm39) |
C211S |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,331,588 (GRCm39) |
D7G |
probably benign |
Het |
| Trip11 |
T |
A |
12: 101,811,160 (GRCm39) |
K1863N |
possibly damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,322,978 (GRCm39) |
S104T |
probably benign |
Het |
| Zfp977 |
T |
C |
7: 42,229,689 (GRCm39) |
T279A |
probably benign |
Het |
|
| Other mutations in Ece1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01107:Ece1
|
APN |
4 |
137,665,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01538:Ece1
|
APN |
4 |
137,675,855 (GRCm39) |
missense |
probably benign |
|
|
IGL01588:Ece1
|
APN |
4 |
137,684,517 (GRCm39) |
splice site |
probably benign |
|
|
IGL01678:Ece1
|
APN |
4 |
137,690,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02619:Ece1
|
APN |
4 |
137,666,044 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02936:Ece1
|
APN |
4 |
137,673,612 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02956:Ece1
|
APN |
4 |
137,690,149 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03332:Ece1
|
APN |
4 |
137,673,666 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0063:Ece1
|
UTSW |
4 |
137,675,892 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0240:Ece1
|
UTSW |
4 |
137,676,746 (GRCm39) |
splice site |
probably benign |
|
|
R1004:Ece1
|
UTSW |
4 |
137,653,550 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1515:Ece1
|
UTSW |
4 |
137,678,819 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1541:Ece1
|
UTSW |
4 |
137,675,971 (GRCm39) |
splice site |
probably null |
|
|
R1796:Ece1
|
UTSW |
4 |
137,685,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Ece1
|
UTSW |
4 |
137,685,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1834:Ece1
|
UTSW |
4 |
137,685,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Ece1
|
UTSW |
4 |
137,685,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1930:Ece1
|
UTSW |
4 |
137,666,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1931:Ece1
|
UTSW |
4 |
137,666,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2065:Ece1
|
UTSW |
4 |
137,685,393 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2281:Ece1
|
UTSW |
4 |
137,673,673 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3118:Ece1
|
UTSW |
4 |
137,675,855 (GRCm39) |
missense |
probably benign |
|
|
R4720:Ece1
|
UTSW |
4 |
137,684,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4773:Ece1
|
UTSW |
4 |
137,672,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5794:Ece1
|
UTSW |
4 |
137,683,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5969:Ece1
|
UTSW |
4 |
137,689,051 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6056:Ece1
|
UTSW |
4 |
137,688,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6332:Ece1
|
UTSW |
4 |
137,685,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6648:Ece1
|
UTSW |
4 |
137,648,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7285:Ece1
|
UTSW |
4 |
137,641,074 (GRCm39) |
splice site |
probably null |
|
|
R7387:Ece1
|
UTSW |
4 |
137,666,095 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8103:Ece1
|
UTSW |
4 |
137,641,133 (GRCm39) |
missense |
probably benign |
|
|
R8308:Ece1
|
UTSW |
4 |
137,664,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8806:Ece1
|
UTSW |
4 |
137,672,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9578:Ece1
|
UTSW |
4 |
137,641,133 (GRCm39) |
missense |
probably benign |
|
|
X0063:Ece1
|
UTSW |
4 |
137,653,686 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Ece1
|
UTSW |
4 |
137,648,338 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTATCTCTGAAGCGCCAG -3'
(R):5'- CTGGAATCTATGTTAACTGCAGAC -3'
Sequencing Primer
(F):5'- TATCTCTGAAGCGCCAGGAGAAAG -3'
(R):5'- ACTGACATAGTCTCTGTGCAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation