Incidental Mutation 'IGL02956:Ece1'
ID365105
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ece1
Ensembl Gene ENSMUSG00000057530
Gene Nameendothelin converting enzyme 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.765) question?
Stock #IGL02956
Quality Score
Status
Chromosome4
Chromosomal Location137862237-137965229 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 137962838 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 732 (F732L)
Ref Sequence ENSEMBL: ENSMUSP00000099576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102518]
Predicted Effect probably damaging
Transcript: ENSMUST00000102518
AA Change: F732L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099576
Gene: ENSMUSG00000057530
AA Change: F732L

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
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830406C13Rik A G 14: 12,287,326 N29S probably benign Het
5830473C10Rik A G 5: 90,579,638 I372V possibly damaging Het
Adamts13 C T 2: 26,983,037 A339V probably benign Het
Adck2 T C 6: 39,576,502 V349A probably benign Het
Akna G T 4: 63,386,279 T546K probably benign Het
Ankrd29 T C 18: 12,260,936 K274E probably damaging Het
Apc2 A T 10: 80,306,375 N376I probably damaging Het
Cadps A G 14: 12,418,047 probably benign Het
Cbl T C 9: 44,169,034 T243A probably damaging Het
Cfap52 T C 11: 67,954,075 E56G probably benign Het
Chd5 C A 4: 152,379,956 P1561Q probably benign Het
Dscam A G 16: 96,801,272 S657P probably damaging Het
Eno2 T C 6: 124,763,119 D199G probably damaging Het
Enpp3 A G 10: 24,774,943 probably benign Het
Fbxl15 G T 19: 46,329,251 C124F probably damaging Het
Fermt3 T C 19: 7,002,344 S474G probably benign Het
Fkbp6 T C 5: 135,339,496 E252G probably damaging Het
Gm6625 A T 8: 89,147,039 noncoding transcript Het
Gnl1 T C 17: 35,987,612 I416T probably benign Het
Gp1bb C A 16: 18,620,925 A140S probably benign Het
Grin2c A G 11: 115,257,959 V271A possibly damaging Het
Heatr1 T A 13: 12,416,059 S1012T possibly damaging Het
Ighv5-6 T A 12: 113,625,903 probably benign Het
Itga10 A G 3: 96,655,113 E737G possibly damaging Het
Lmod2 A C 6: 24,603,632 N202T probably damaging Het
Lrp1 C T 10: 127,544,559 V3908I probably benign Het
Lrrtm4 T C 6: 80,021,650 V15A probably benign Het
Mup4 A T 4: 59,959,263 D77E probably benign Het
Myh7b A T 2: 155,632,903 E1787V probably damaging Het
Myh7b T A 2: 155,625,954 M804K possibly damaging Het
Nup133 T C 8: 123,949,083 S32G probably benign Het
Olfr145 A G 9: 37,898,108 K235E probably damaging Het
Olfr159 T A 4: 43,770,399 N204I probably benign Het
Olfr648 T C 7: 104,180,127 I94V probably damaging Het
Olfr77 T C 9: 19,921,052 V281A possibly damaging Het
Polr2m T C 9: 71,483,629 D97G possibly damaging Het
Pou2f3 A G 9: 43,142,805 probably benign Het
Rex1bd C A 8: 70,505,902 V72F possibly damaging Het
Rgp1 A G 4: 43,581,505 T261A possibly damaging Het
Satb2 A G 1: 56,948,175 F84L probably damaging Het
Sec14l1 G A 11: 117,153,147 D494N probably benign Het
Spn G A 7: 127,137,260 T25M probably damaging Het
Trp73 G A 4: 154,064,463 probably benign Het
Tsc22d2 A G 3: 58,417,546 T620A unknown Het
Zfp276 T C 8: 123,254,744 L10P probably damaging Het
Zfp93 T A 7: 24,274,975 N128K probably benign Het
Other mutations in Ece1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Ece1 APN 4 137938658 missense probably damaging 1.00
IGL01538:Ece1 APN 4 137948544 missense probably benign
IGL01588:Ece1 APN 4 137957206 splice site probably benign
IGL01678:Ece1 APN 4 137962733 missense probably damaging 1.00
IGL02619:Ece1 APN 4 137938733 missense probably benign 0.08
IGL02936:Ece1 APN 4 137946301 missense probably benign 0.01
IGL03332:Ece1 APN 4 137946355 missense probably damaging 0.99
R0063:Ece1 UTSW 4 137948581 missense probably benign 0.14
R0240:Ece1 UTSW 4 137949435 splice site probably benign
R1004:Ece1 UTSW 4 137926239 missense probably benign 0.04
R1515:Ece1 UTSW 4 137951508 missense probably benign 0.00
R1541:Ece1 UTSW 4 137948660 splice site probably null
R1796:Ece1 UTSW 4 137958001 missense probably damaging 1.00
R1834:Ece1 UTSW 4 137958001 missense probably damaging 1.00
R1834:Ece1 UTSW 4 137958128 missense probably damaging 0.99
R1836:Ece1 UTSW 4 137958001 missense probably damaging 1.00
R1930:Ece1 UTSW 4 137938763 missense probably benign 0.01
R1931:Ece1 UTSW 4 137938763 missense probably benign 0.01
R2065:Ece1 UTSW 4 137958082 missense probably benign 0.04
R2281:Ece1 UTSW 4 137946362 missense possibly damaging 0.93
R3118:Ece1 UTSW 4 137948544 missense probably benign
R4720:Ece1 UTSW 4 137957175 missense probably damaging 1.00
R4773:Ece1 UTSW 4 137945153 missense probably benign 0.00
R5794:Ece1 UTSW 4 137956533 missense probably damaging 0.99
R5969:Ece1 UTSW 4 137961740 critical splice donor site probably null
R6056:Ece1 UTSW 4 137961647 missense probably damaging 1.00
R6332:Ece1 UTSW 4 137958008 missense probably damaging 1.00
R6648:Ece1 UTSW 4 137921159 missense probably benign 0.00
R7285:Ece1 UTSW 4 137913763 splice site probably null
R7387:Ece1 UTSW 4 137938784 missense possibly damaging 0.69
R8103:Ece1 UTSW 4 137913822 missense probably benign
R8294:Ece1 UTSW 4 137948620 missense possibly damaging 0.60
R8308:Ece1 UTSW 4 137936764 missense probably damaging 0.99
R8806:Ece1 UTSW 4 137945141 missense probably damaging 1.00
X0063:Ece1 UTSW 4 137926375 missense probably damaging 0.97
Z1176:Ece1 UTSW 4 137921027 missense probably benign 0.21
Posted On2015-12-18