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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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