Incidental Mutation 'R1004:Ece1'
| ID |
97934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ece1
|
| Ensembl Gene |
ENSMUSG00000057530 |
| Gene Name |
endothelin converting enzyme 1 |
| Synonyms |
|
| MMRRC Submission |
039114-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.693)
|
| Stock # |
R1004 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
137862237-137965229 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137926239 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 100
(T100A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102518]
[ENSMUST00000151110]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102518
AA Change: T84A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099576
Gene: ENSMUSG00000057530
AA Change: T84A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129607
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151110
AA Change: T100A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000114671
Gene: ENSMUSG00000057530
AA Change: T100A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
121 |
206 |
1.4e-29 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (41/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,151,954 (GRCm38) |
I423T |
possibly damaging |
Het |
| Agbl3 |
A |
T |
6: 34,803,451 (GRCm38) |
E453V |
probably damaging |
Het |
| Agxt |
A |
G |
1: 93,135,699 (GRCm38) |
M108V |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,687,286 (GRCm38) |
I831T |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,838,256 (GRCm38) |
E518K |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,687,275 (GRCm38) |
M1215T |
unknown |
Het |
| Cd163 |
G |
T |
6: 124,325,347 (GRCm38) |
D957Y |
probably damaging |
Het |
| Ces2e |
A |
G |
8: 104,929,738 (GRCm38) |
D200G |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 93,066,696 (GRCm38) |
|
probably benign |
Het |
| Col11a1 |
A |
G |
3: 114,095,022 (GRCm38) |
|
probably benign |
Het |
| Dlx6 |
C |
T |
6: 6,863,665 (GRCm38) |
Q96* |
probably null |
Het |
| Dpp4 |
T |
A |
2: 62,332,640 (GRCm38) |
Q754L |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,677,544 (GRCm38) |
V779M |
possibly damaging |
Het |
| Gatm |
C |
T |
2: 122,609,660 (GRCm38) |
|
probably benign |
Het |
| Gpc2 |
A |
G |
5: 138,278,225 (GRCm38) |
L213P |
probably damaging |
Het |
| Hook1 |
A |
C |
4: 96,022,287 (GRCm38) |
N713H |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,588,904 (GRCm38) |
I178K |
possibly damaging |
Het |
| Mettl9 |
G |
A |
7: 121,076,237 (GRCm38) |
V287I |
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,242,420 (GRCm38) |
A685D |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,140,917 (GRCm38) |
T3774I |
probably benign |
Het |
| Nup58 |
C |
A |
14: 60,247,481 (GRCm38) |
|
probably benign |
Het |
| Nxf1 |
A |
T |
19: 8,764,317 (GRCm38) |
T119S |
probably benign |
Het |
| Oaz3 |
T |
A |
3: 94,435,043 (GRCm38) |
H102L |
probably damaging |
Het |
| Or8g2b |
T |
C |
9: 39,839,980 (GRCm38) |
F182S |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,430,425 (GRCm38) |
Q680L |
probably benign |
Het |
| Poli |
T |
A |
18: 70,525,438 (GRCm38) |
Q75L |
probably benign |
Het |
| Ppp2r3a |
C |
T |
9: 101,198,630 (GRCm38) |
|
probably null |
Het |
| Prr30 |
A |
G |
14: 101,199,093 (GRCm38) |
L11P |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,377,602 (GRCm38) |
Y345F |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,602,357 (GRCm38) |
N1233S |
probably benign |
Het |
| Serpinb9f |
TA |
"TTTNA,T" |
13: 33,334,242 (GRCm38) |
|
probably benign |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,577,631 (GRCm38) |
|
probably benign |
Het |
| Skp1 |
G |
C |
11: 52,237,380 (GRCm38) |
|
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,322,524 (GRCm38) |
K528R |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,618,399 (GRCm38) |
N35S |
probably damaging |
Het |
| Tcstv2c |
T |
A |
13: 120,155,022 (GRCm38) |
D132E |
probably benign |
Het |
| Xrcc5 |
A |
G |
1: 72,383,778 (GRCm38) |
|
probably benign |
Het |
| Zfp235 |
T |
A |
7: 24,140,744 (GRCm38) |
L266Q |
probably damaging |
Het |
| Zfp600 |
T |
A |
4: 146,196,533 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Ece1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01107:Ece1
|
APN |
4 |
137,938,658 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01538:Ece1
|
APN |
4 |
137,948,544 (GRCm38) |
missense |
probably benign |
|
|
IGL01588:Ece1
|
APN |
4 |
137,957,206 (GRCm38) |
splice site |
probably benign |
|
|
IGL01678:Ece1
|
APN |
4 |
137,962,733 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02619:Ece1
|
APN |
4 |
137,938,733 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02936:Ece1
|
APN |
4 |
137,946,301 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02956:Ece1
|
APN |
4 |
137,962,838 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03332:Ece1
|
APN |
4 |
137,946,355 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0063:Ece1
|
UTSW |
4 |
137,948,581 (GRCm38) |
missense |
probably benign |
0.14 |
|
R0240:Ece1
|
UTSW |
4 |
137,949,435 (GRCm38) |
splice site |
probably benign |
|
|
R1515:Ece1
|
UTSW |
4 |
137,951,508 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1541:Ece1
|
UTSW |
4 |
137,948,660 (GRCm38) |
splice site |
probably null |
|
|
R1796:Ece1
|
UTSW |
4 |
137,958,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1834:Ece1
|
UTSW |
4 |
137,958,128 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1834:Ece1
|
UTSW |
4 |
137,958,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1836:Ece1
|
UTSW |
4 |
137,958,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1930:Ece1
|
UTSW |
4 |
137,938,763 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1931:Ece1
|
UTSW |
4 |
137,938,763 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2065:Ece1
|
UTSW |
4 |
137,958,082 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2281:Ece1
|
UTSW |
4 |
137,946,362 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3118:Ece1
|
UTSW |
4 |
137,948,544 (GRCm38) |
missense |
probably benign |
|
|
R4720:Ece1
|
UTSW |
4 |
137,957,175 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4773:Ece1
|
UTSW |
4 |
137,945,153 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5794:Ece1
|
UTSW |
4 |
137,956,533 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5969:Ece1
|
UTSW |
4 |
137,961,740 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6056:Ece1
|
UTSW |
4 |
137,961,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6332:Ece1
|
UTSW |
4 |
137,958,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6648:Ece1
|
UTSW |
4 |
137,921,159 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7285:Ece1
|
UTSW |
4 |
137,913,763 (GRCm38) |
splice site |
probably null |
|
|
R7387:Ece1
|
UTSW |
4 |
137,938,784 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R8103:Ece1
|
UTSW |
4 |
137,913,822 (GRCm38) |
missense |
probably benign |
|
|
R8294:Ece1
|
UTSW |
4 |
137,948,620 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R8308:Ece1
|
UTSW |
4 |
137,936,764 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8806:Ece1
|
UTSW |
4 |
137,945,141 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9578:Ece1
|
UTSW |
4 |
137,913,822 (GRCm38) |
missense |
probably benign |
|
|
X0063:Ece1
|
UTSW |
4 |
137,926,375 (GRCm38) |
missense |
probably damaging |
0.97 |
|
Z1176:Ece1
|
UTSW |
4 |
137,921,027 (GRCm38) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAACCACGGAACGGAGTTTACAC -3'
(R):5'- CCTTTGTCGCTTACCCAGTAGATGC -3'
Sequencing Primer
(F):5'- ACAGCTAATAGAAGTCCTGTGTG -3'
(R):5'- ACCCAGTAGATGCTTGATGAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation