Incidental Mutation 'IGL01714:Edn1'
ID104894
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Edn1
Ensembl Gene ENSMUSG00000021367
Gene Nameendothelin 1
SynonymsET-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01714
Quality Score
Status
Chromosome13
Chromosomal Location42301476-42307990 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 42305014 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 101 (N101S)
Ref Sequence ENSEMBL: ENSMUSP00000021796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021796]
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

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 72,455,569 probably null Het
Acvrl1 T A 15: 101,137,370 I259N probably damaging Het
Ahctf1 A G 1: 179,795,877 S59P probably damaging Het
Bcas1 T C 2: 170,384,182 probably benign Het
Ccdc33 T C 9: 58,029,870 N682S possibly damaging Het
Celf1 T C 2: 91,009,207 S326P possibly damaging Het
Cntn1 T A 15: 92,253,989 C436* probably null Het
Cyp2d40 T G 15: 82,761,240 D142A possibly damaging Het
Dnhd1 C T 7: 105,720,942 L4525F probably damaging Het
Drosha A G 15: 12,878,784 Y732C probably damaging Het
Faxc C T 4: 21,936,688 P108S probably damaging Het
Glb1l2 C T 9: 26,768,418 probably null Het
Gm20498 A G 12: 81,510,890 I47T probably damaging Het
Gm4952 G T 19: 12,624,711 R161L probably benign Het
Hipk2 A T 6: 38,819,182 Y51N probably damaging Het
Id4 T G 13: 48,261,790 I98S probably damaging Het
Klf6 T C 13: 5,866,659 S268P probably benign Het
Kmt2c G T 5: 25,313,400 T2427N probably benign Het
Lrp3 T G 7: 35,206,071 probably null Het
Lrrc66 A G 5: 73,629,977 I10T probably benign Het
Mapkap1 T G 2: 34,518,843 V281G probably damaging Het
Ncor1 T A 11: 62,334,584 I1054F possibly damaging Het
Olfr1061 T C 2: 86,413,800 N84S probably benign Het
Ppp1r9b C A 11: 95,005,354 T817N probably damaging Het
Prkd2 T A 7: 16,863,942 I659N probably damaging Het
Radil T C 5: 142,543,397 probably benign Het
Smarcd1 C T 15: 99,712,421 T474I probably damaging Het
Srd5a1 C T 13: 69,611,062 W62* probably null Het
St5 A G 7: 109,570,062 S9P probably damaging Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Ttn T A 2: 76,857,179 probably benign Het
Vmn1r77 A T 7: 12,041,350 I18F probably benign Het
Xrcc5 A T 1: 72,329,984 K332N probably damaging Het
Other mutations in Edn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Edn1 APN 13 42303671 missense probably damaging 1.00
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
Posted On2014-01-21