Incidental Mutation 'R3883:Edn1'
ID 308837
Institutional Source Beutler Lab
Gene Symbol Edn1
Ensembl Gene ENSMUSG00000021367
Gene Name endothelin 1
Synonyms ET-1
MMRRC Submission 040796-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3883 (G1)
Quality Score 196
Status Validated
Chromosome 13
Chromosomal Location 42454952-42461466 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42455382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 4 (F4L)
Ref Sequence ENSEMBL: ENSMUSP00000021796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021796]
AlphaFold P22387
Predicted Effect probably benign
Transcript: ENSMUST00000021796
AA Change: F4L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000021796
Gene: ENSMUSG00000021367
AA Change: F4L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (45/46)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 C T 8: 46,980,228 (GRCm39) S423L probably benign Het
Ankmy1 T G 1: 92,813,874 (GRCm39) E435A probably damaging Het
Ano5 T A 7: 51,216,052 (GRCm39) M343K probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
C3 T C 17: 57,524,173 (GRCm39) probably null Het
Cdk17 T C 10: 93,047,939 (GRCm39) probably null Het
Cntn2 A G 1: 132,456,677 (GRCm39) V123A probably damaging Het
Cracd T A 5: 77,004,421 (GRCm39) W261R unknown Het
Dchs1 A G 7: 105,411,770 (GRCm39) Y1449H probably damaging Het
Ddx42 T A 11: 106,138,518 (GRCm39) N772K probably benign Het
Dnah11 T C 12: 117,942,188 (GRCm39) probably benign Het
Epb41l3 C T 17: 69,581,111 (GRCm39) R552* probably null Het
Epc1 T C 18: 6,452,258 (GRCm39) D267G possibly damaging Het
Fbxo22 A T 9: 55,130,546 (GRCm39) T169S probably benign Het
Fmnl1 A G 11: 103,072,940 (GRCm39) N144D probably damaging Het
Folh1 A G 7: 86,424,864 (GRCm39) L35P possibly damaging Het
Gm10220 A C 5: 26,321,908 (GRCm39) S255A possibly damaging Het
Gm15446 G T 5: 110,088,313 (GRCm39) V9L probably damaging Het
Hipk2 A G 6: 38,676,200 (GRCm39) L1011P probably damaging Het
Kif4-ps G T 12: 101,112,473 (GRCm39) V201L probably damaging Het
Klk1b16 T C 7: 43,788,887 (GRCm39) V40A possibly damaging Het
Lgsn C A 1: 31,215,540 (GRCm39) D3E probably benign Het
Mavs T C 2: 131,087,218 (GRCm39) S239P probably benign Het
Mrtfb T A 16: 13,219,322 (GRCm39) V667D probably damaging Het
Mtrf1 A G 14: 79,656,707 (GRCm39) Y403C probably damaging Het
Mycbp2 A C 14: 103,532,686 (GRCm39) L390V probably damaging Het
Neto2 A G 8: 86,389,894 (GRCm39) S190P probably damaging Het
Ngly1 A G 14: 16,270,574 (GRCm38) I195V probably damaging Het
Or10d4c A G 9: 39,558,420 (GRCm39) I133V probably benign Het
Or13p5 T C 4: 118,591,882 (GRCm39) I52T probably benign Het
Pde4dip T C 3: 97,620,504 (GRCm39) K1632E probably damaging Het
Pigk T C 3: 152,419,832 (GRCm39) S21P probably benign Het
Rabggtb A G 3: 153,616,417 (GRCm39) F82L probably damaging Het
Reep6 G A 10: 80,171,369 (GRCm39) R415Q probably benign Het
Serpinb13 T C 1: 106,926,302 (GRCm39) V159A probably benign Het
Slc5a8 T A 10: 88,738,325 (GRCm39) M196K possibly damaging Het
Sprr1a G A 3: 92,391,827 (GRCm39) P58L probably damaging Het
Taf1a A T 1: 183,172,288 (GRCm39) T10S possibly damaging Het
Tap1 T A 17: 34,412,232 (GRCm39) V479E probably damaging Het
Trpm4 C T 7: 44,971,422 (GRCm39) probably null Het
Ush2a T C 1: 187,995,579 (GRCm39) Y117H probably benign Het
Vmn2r58 A T 7: 41,513,914 (GRCm39) L243* probably null Het
Zbtb32 A G 7: 30,290,569 (GRCm39) I242T probably benign Het
Zbtb7a T C 10: 80,983,859 (GRCm39) C434R probably damaging Het
Other mutations in Edn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Edn1 APN 13 42,457,147 (GRCm39) missense probably damaging 1.00
IGL01714:Edn1 APN 13 42,458,490 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AGTCAGAAGCGTTCCTGCAC -3'
(R):5'- GTAGTCAGTTGTATTCAAACAGGG -3'

Sequencing Primer
(F):5'- AAGGGCCACTTGCTGAGGAC -3'
(R):5'- CAAACAGGGGTTTTATTTCTTTCGC -3'
Posted On 2015-04-17