Incidental Mutation 'IGL01092:Edn1'
ID 52558
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Edn1
Ensembl Gene ENSMUSG00000021367
Gene Name endothelin 1
Synonyms ET-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01092
Quality Score
Status
Chromosome 13
Chromosomal Location 42301476-42307990 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42303671 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 60 (D60G)
Ref Sequence ENSEMBL: ENSMUSP00000021796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021796]
AlphaFold P22387
Predicted Effect probably damaging
Transcript: ENSMUST00000021796
AA Change: D60G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021796
Gene: ENSMUSG00000021367
AA Change: D60G

DomainStartEndE-ValueType
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap33 T C 7: 30,529,946 R335G probably damaging Het
Atad2b C T 12: 5,017,987 S995L probably damaging Het
Atrn A T 2: 130,947,636 R340* probably null Het
Ccdc83 A T 7: 90,247,105 D85E probably benign Het
Chd2 A T 7: 73,441,686 H1602Q possibly damaging Het
Cog2 A G 8: 124,545,280 D511G probably damaging Het
Col4a4 G T 1: 82,466,545 P1334T unknown Het
Creb3l4 T C 3: 90,237,738 E369G probably damaging Het
Crnkl1 T C 2: 145,919,948 K563R probably benign Het
Dbi T C 1: 120,113,477 K131E probably benign Het
Erbin T C 13: 103,834,012 N1032S probably damaging Het
Ero1l T C 14: 45,303,586 D107G probably benign Het
Glmn A T 5: 107,578,512 probably null Het
Grxcr1 T C 5: 68,110,562 probably benign Het
Itih3 T A 14: 30,909,781 K593I probably damaging Het
Kmt2b T C 7: 30,580,507 Y1356C probably damaging Het
Lrp1b C T 2: 40,750,947 C3495Y probably damaging Het
Map3k13 A T 16: 21,928,016 T950S probably damaging Het
Me1 A T 9: 86,598,748 V348D probably damaging Het
Morc2a T C 11: 3,684,042 V718A probably benign Het
Myh7 T C 14: 54,971,632 E1883G possibly damaging Het
Olfr1338 T A 4: 118,753,762 I259F possibly damaging Het
Olfr913 T G 9: 38,594,905 I228R probably damaging Het
Pdcd6ip A G 9: 113,680,181 probably benign Het
Plcb3 T A 19: 6,955,322 E1025V probably benign Het
Ppp1r26 C T 2: 28,453,860 probably benign Het
Prkd1 T C 12: 50,383,515 probably benign Het
Rwdd4a C T 8: 47,544,112 T122M possibly damaging Het
Sdhb T G 4: 140,977,480 C251G probably damaging Het
Siglec1 A T 2: 131,079,217 I678N probably damaging Het
Snrnp70 T C 7: 45,377,377 D215G probably damaging Het
Ston1 A G 17: 88,644,443 E674G probably benign Het
Tbl3 A T 17: 24,705,252 I177N probably damaging Het
Tbl3 T C 17: 24,701,905 probably benign Het
Tnrc6c T C 11: 117,721,985 V483A probably damaging Het
Other mutations in Edn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01714:Edn1 APN 13 42305014 missense probably benign
IGL03106:Edn1 APN 13 42305023 missense possibly damaging 0.46
R0121:Edn1 UTSW 13 42305265 missense probably benign 0.04
R0522:Edn1 UTSW 13 42304954 missense probably damaging 0.99
R0646:Edn1 UTSW 13 42305242 splice site probably benign
R1720:Edn1 UTSW 13 42305350 missense probably benign 0.39
R1752:Edn1 UTSW 13 42303599 missense possibly damaging 0.48
R1807:Edn1 UTSW 13 42306794 missense probably damaging 1.00
R3883:Edn1 UTSW 13 42301906 missense probably benign 0.02
R4685:Edn1 UTSW 13 42305253 critical splice acceptor site probably null
R4812:Edn1 UTSW 13 42303640 missense probably benign 0.17
R5071:Edn1 UTSW 13 42303677 missense probably damaging 1.00
R5154:Edn1 UTSW 13 42305023 missense probably benign 0.01
R5520:Edn1 UTSW 13 42301960 critical splice donor site probably null
R5708:Edn1 UTSW 13 42303667 missense probably benign 0.00
R5801:Edn1 UTSW 13 42306806 missense probably benign 0.16
Z1177:Edn1 UTSW 13 42303631 missense possibly damaging 0.61
Posted On 2013-06-21