Incidental Mutation 'IGL01714:Edn1'
| ID |
104894 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Edn1
|
| Ensembl Gene |
ENSMUSG00000021367 |
| Gene Name |
endothelin 1 |
| Synonyms |
ET-1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01714
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
42454952-42461466 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42458490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 101
(N101S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021796]
|
| AlphaFold |
P22387 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021796
AA Change: N101S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021796
Gene: ENSMUSG00000021367
AA Change: N101S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
END
|
52 |
73 |
4.45e-11 |
SMART |
|
low complexity region
|
84 |
99 |
N/A |
INTRINSIC |
|
END
|
109 |
130 |
1.95e-7 |
SMART |
|
low complexity region
|
143 |
156 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221433
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the endothelin family of peptides. The encoded preproprotein undergoes proteolytic processing to generate a peptide before secretion by the vascular endothelial cells. The mature peptide has various biological activities such as vasoconstriction, cell proliferation, stimulation of hormone release and modulation of central nervous activity. Mice lacking the encoded protein exhibit neonatal lethality accompanied with numerous craniofacial and cardiovascular defects due to disruption in cranial and cardiac neural crest cell patterning during early embryogenesis. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit cardiovascular malformations, craniofacial abnormalities, and lethality due to respiratory failure at birth. Heterozygotes develop elevated arterial blood pressure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
T |
C |
8: 73,209,413 (GRCm39) |
|
probably null |
Het |
| Acvrl1 |
T |
A |
15: 101,035,251 (GRCm39) |
I259N |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,623,442 (GRCm39) |
S59P |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,226,102 (GRCm39) |
|
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,937,153 (GRCm39) |
N682S |
possibly damaging |
Het |
| Celf1 |
T |
C |
2: 90,839,552 (GRCm39) |
S326P |
possibly damaging |
Het |
| Cntn1 |
T |
A |
15: 92,151,870 (GRCm39) |
C436* |
probably null |
Het |
| Cyp2d40 |
T |
G |
15: 82,645,441 (GRCm39) |
D142A |
possibly damaging |
Het |
| Dennd2b |
A |
G |
7: 109,169,269 (GRCm39) |
S9P |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,370,149 (GRCm39) |
L4525F |
probably damaging |
Het |
| Drosha |
A |
G |
15: 12,878,870 (GRCm39) |
Y732C |
probably damaging |
Het |
| Faxc |
C |
T |
4: 21,936,688 (GRCm39) |
P108S |
probably damaging |
Het |
| Glb1l2 |
C |
T |
9: 26,679,714 (GRCm39) |
|
probably null |
Het |
| Gm4952 |
G |
T |
19: 12,602,075 (GRCm39) |
R161L |
probably benign |
Het |
| Hipk2 |
A |
T |
6: 38,796,117 (GRCm39) |
Y51N |
probably damaging |
Het |
| Id4 |
T |
G |
13: 48,415,266 (GRCm39) |
I98S |
probably damaging |
Het |
| Klf6 |
T |
C |
13: 5,916,658 (GRCm39) |
S268P |
probably benign |
Het |
| Kmt2c |
G |
T |
5: 25,518,398 (GRCm39) |
T2427N |
probably benign |
Het |
| Lrp3 |
T |
G |
7: 34,905,496 (GRCm39) |
|
probably null |
Het |
| Lrrc66 |
A |
G |
5: 73,787,320 (GRCm39) |
I10T |
probably benign |
Het |
| Mapkap1 |
T |
G |
2: 34,408,855 (GRCm39) |
V281G |
probably damaging |
Het |
| Ncor1 |
T |
A |
11: 62,225,410 (GRCm39) |
I1054F |
possibly damaging |
Het |
| Or8k25 |
T |
C |
2: 86,244,144 (GRCm39) |
N84S |
probably benign |
Het |
| Ppp1r9b |
C |
A |
11: 94,896,180 (GRCm39) |
T817N |
probably damaging |
Het |
| Prkd2 |
T |
A |
7: 16,597,867 (GRCm39) |
I659N |
probably damaging |
Het |
| Radil |
T |
C |
5: 142,529,152 (GRCm39) |
|
probably benign |
Het |
| S2bpcox16 |
A |
G |
12: 81,557,664 (GRCm39) |
I47T |
probably damaging |
Het |
| Smarcd1 |
C |
T |
15: 99,610,302 (GRCm39) |
T474I |
probably damaging |
Het |
| Srd5a1 |
C |
T |
13: 69,759,181 (GRCm39) |
W62* |
probably null |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,687,523 (GRCm39) |
|
probably benign |
Het |
| Vmn1r77 |
A |
T |
7: 11,775,277 (GRCm39) |
I18F |
probably benign |
Het |
| Xrcc5 |
A |
T |
1: 72,369,143 (GRCm39) |
K332N |
probably damaging |
Het |
|
| Other mutations in Edn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01092:Edn1
|
APN |
13 |
42,457,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03106:Edn1
|
APN |
13 |
42,458,499 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0121:Edn1
|
UTSW |
13 |
42,458,741 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0522:Edn1
|
UTSW |
13 |
42,458,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0646:Edn1
|
UTSW |
13 |
42,458,718 (GRCm39) |
splice site |
probably benign |
|
|
R1720:Edn1
|
UTSW |
13 |
42,458,826 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1752:Edn1
|
UTSW |
13 |
42,457,075 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1807:Edn1
|
UTSW |
13 |
42,460,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3883:Edn1
|
UTSW |
13 |
42,455,382 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4685:Edn1
|
UTSW |
13 |
42,458,729 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4812:Edn1
|
UTSW |
13 |
42,457,116 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5071:Edn1
|
UTSW |
13 |
42,457,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5154:Edn1
|
UTSW |
13 |
42,458,499 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5520:Edn1
|
UTSW |
13 |
42,455,436 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5708:Edn1
|
UTSW |
13 |
42,457,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5801:Edn1
|
UTSW |
13 |
42,460,282 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1177:Edn1
|
UTSW |
13 |
42,457,107 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Posted On |
2014-01-21 |
Incidental Mutation