Incidental Mutation 'R2065:Ece1'
ID 229066
Institutional Source Beutler Lab
Gene Symbol Ece1
Ensembl Gene ENSMUSG00000057530
Gene Name endothelin converting enzyme 1
Synonyms
MMRRC Submission 040070-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.800) question?
Stock # R2065 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 137589548-137692540 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 137685393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 628 (M628L)
Ref Sequence ENSEMBL: ENSMUSP00000099576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102518]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000102518
AA Change: M628L

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099576
Gene: ENSMUSG00000057530
AA Change: M628L

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T A X: 66,964,308 (GRCm39) I184L probably benign Het
9530002B09Rik T A 4: 122,583,115 (GRCm39) probably benign Het
Adh6a T A 3: 138,030,998 (GRCm39) D162E probably benign Het
Afap1l1 A T 18: 61,872,193 (GRCm39) probably null Het
AI182371 A G 2: 34,976,441 (GRCm39) probably null Het
Amy2a1 T C 3: 113,324,217 (GRCm39) I108V probably benign Het
Aox1 T C 1: 58,098,351 (GRCm39) probably null Het
Ap3b2 A G 7: 81,113,522 (GRCm39) S896P unknown Het
Ascc2 A T 11: 4,631,496 (GRCm39) M646L probably benign Het
Atp11b T A 3: 35,893,223 (GRCm39) Y859N probably damaging Het
Bag3 T A 7: 128,147,498 (GRCm39) V371D probably damaging Het
Bhmt T C 13: 93,754,120 (GRCm39) Y363C probably benign Het
Btbd6 T C 12: 112,941,755 (GRCm39) Y356H probably damaging Het
C2cd2l C T 9: 44,227,632 (GRCm39) R172Q probably benign Het
Ccnt1 A T 15: 98,449,823 (GRCm39) H156Q probably benign Het
Clptm1l C T 13: 73,755,842 (GRCm39) Q153* probably null Het
Cnep1r1 G T 8: 88,845,445 (GRCm39) probably benign Het
Cnksr2 A C X: 156,728,302 (GRCm39) S224R possibly damaging Het
Cyp26b1 T C 6: 84,553,537 (GRCm39) M206V probably benign Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
Ehd1 T C 19: 6,348,108 (GRCm39) L362P probably benign Het
Epha1 G T 6: 42,342,987 (GRCm39) H187Q probably benign Het
Erich6b T C 14: 75,896,351 (GRCm39) I79T probably benign Het
F7 T A 8: 13,085,183 (GRCm39) V403D probably damaging Het
Fbln7 G T 2: 128,719,386 (GRCm39) R61L probably damaging Het
Fbxo41 C T 6: 85,455,453 (GRCm39) W577* probably null Het
Fbxw28 T C 9: 109,157,292 (GRCm39) K319E probably benign Het
Fgb C A 3: 82,956,996 (GRCm39) D25Y probably benign Het
Flg2 A G 3: 93,109,538 (GRCm39) E522G unknown Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Gm12695 T C 4: 96,657,963 (GRCm39) T69A probably benign Het
Gm7361 A T 5: 26,467,149 (GRCm39) D256V probably damaging Het
Hpse A G 5: 100,846,797 (GRCm39) S211P probably damaging Het
Ifnb1 T A 4: 88,440,996 (GRCm39) I6F possibly damaging Het
Il2rg A G X: 100,311,416 (GRCm39) L57P possibly damaging Het
Invs T A 4: 48,396,287 (GRCm39) L320Q probably damaging Het
Iqca1 T C 1: 90,057,953 (GRCm39) S249G probably benign Het
Itpr3 G A 17: 27,317,050 (GRCm39) M768I probably benign Het
Khdc1a T A 1: 21,421,196 (GRCm39) M127K probably benign Het
Klhl42 T A 6: 147,003,161 (GRCm39) W312R probably damaging Het
L3mbtl4 C A 17: 68,732,687 (GRCm39) Q56K probably benign Het
Lce1k G A 3: 92,714,164 (GRCm39) Q7* probably null Het
Lonp2 A G 8: 87,392,403 (GRCm39) T490A probably damaging Het
Mbd1 C A 18: 74,409,955 (GRCm39) T373K probably damaging Het
Mpp4 G A 1: 59,182,941 (GRCm39) P322L possibly damaging Het
Mrto4 T C 4: 139,076,334 (GRCm39) K86E probably benign Het
Naf1 A G 8: 67,340,432 (GRCm39) D414G probably damaging Het
Nbas T A 12: 13,616,158 (GRCm39) L2232Q probably damaging Het
Ncr1 T C 7: 4,341,206 (GRCm39) F29L probably benign Het
Nup133 C A 8: 124,641,314 (GRCm39) D869Y probably damaging Het
Or2ab1 A G 11: 58,488,396 (GRCm39) N58S probably damaging Het
Or2ag1 T A 7: 106,313,373 (GRCm39) R172W probably benign Het
Or2d3c T G 7: 106,526,162 (GRCm39) Y168S probably damaging Het
Or4k45 A G 2: 111,395,057 (GRCm39) I244T probably damaging Het
Or5p63 T C 7: 107,811,547 (GRCm39) Y63C probably damaging Het
Or5p73 T A 7: 108,064,875 (GRCm39) C115S possibly damaging Het
Orc2 A G 1: 58,508,854 (GRCm39) V431A probably damaging Het
Phc2 T C 4: 128,640,929 (GRCm39) F672S probably damaging Het
Pigr G A 1: 130,778,617 (GRCm39) G767D probably benign Het
Plxnb3 T A X: 72,815,357 (GRCm39) Y1845* probably null Het
Prl7a2 T A 13: 27,844,870 (GRCm39) Y172F probably damaging Het
Prokr1 T C 6: 87,565,695 (GRCm39) E50G probably damaging Het
Prph A T 15: 98,954,014 (GRCm39) D196V probably damaging Het
Rapgef5 C A 12: 117,547,739 (GRCm39) C234* probably null Het
Sin3a T A 9: 57,018,084 (GRCm39) D834E possibly damaging Het
Skint1 T A 4: 111,882,730 (GRCm39) V258D probably benign Het
Slc22a16 A G 10: 40,461,016 (GRCm39) I273V possibly damaging Het
Snx13 T C 12: 35,188,065 (GRCm39) M781T possibly damaging Het
Spag17 A G 3: 99,920,524 (GRCm39) I420V probably benign Het
Synj1 T C 16: 90,788,537 (GRCm39) probably null Het
Tatdn2 A G 6: 113,681,103 (GRCm39) K379E probably benign Het
Tcaf2 T A 6: 42,604,981 (GRCm39) N601I probably benign Het
Thrap3 T C 4: 126,069,189 (GRCm39) Y654C possibly damaging Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null Het
Tmem132d T C 5: 127,861,505 (GRCm39) D872G probably benign Het
Troap T C 15: 98,980,344 (GRCm39) L508P probably benign Het
Trpd52l3 T C 19: 29,981,362 (GRCm39) V39A probably benign Het
Ttn T C 2: 76,544,717 (GRCm39) N32795S probably damaging Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Ubr5 T C 15: 38,041,086 (GRCm39) D266G probably damaging Het
Ugt2b36 T C 5: 87,240,100 (GRCm39) E95G probably benign Het
Vmn2r120 T A 17: 57,831,553 (GRCm39) H412L possibly damaging Het
Zgrf1 T C 3: 127,406,999 (GRCm39) C1589R probably damaging Het
Other mutations in Ece1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Ece1 APN 4 137,665,969 (GRCm39) missense probably damaging 1.00
IGL01538:Ece1 APN 4 137,675,855 (GRCm39) missense probably benign
IGL01588:Ece1 APN 4 137,684,517 (GRCm39) splice site probably benign
IGL01678:Ece1 APN 4 137,690,044 (GRCm39) missense probably damaging 1.00
IGL02619:Ece1 APN 4 137,666,044 (GRCm39) missense probably benign 0.08
IGL02936:Ece1 APN 4 137,673,612 (GRCm39) missense probably benign 0.01
IGL02956:Ece1 APN 4 137,690,149 (GRCm39) missense probably damaging 0.99
IGL03332:Ece1 APN 4 137,673,666 (GRCm39) missense probably damaging 0.99
R0063:Ece1 UTSW 4 137,675,892 (GRCm39) missense probably benign 0.14
R0240:Ece1 UTSW 4 137,676,746 (GRCm39) splice site probably benign
R1004:Ece1 UTSW 4 137,653,550 (GRCm39) missense probably benign 0.04
R1515:Ece1 UTSW 4 137,678,819 (GRCm39) missense probably benign 0.00
R1541:Ece1 UTSW 4 137,675,971 (GRCm39) splice site probably null
R1796:Ece1 UTSW 4 137,685,312 (GRCm39) missense probably damaging 1.00
R1834:Ece1 UTSW 4 137,685,439 (GRCm39) missense probably damaging 0.99
R1834:Ece1 UTSW 4 137,685,312 (GRCm39) missense probably damaging 1.00
R1836:Ece1 UTSW 4 137,685,312 (GRCm39) missense probably damaging 1.00
R1930:Ece1 UTSW 4 137,666,074 (GRCm39) missense probably benign 0.01
R1931:Ece1 UTSW 4 137,666,074 (GRCm39) missense probably benign 0.01
R2281:Ece1 UTSW 4 137,673,673 (GRCm39) missense possibly damaging 0.93
R3118:Ece1 UTSW 4 137,675,855 (GRCm39) missense probably benign
R4720:Ece1 UTSW 4 137,684,486 (GRCm39) missense probably damaging 1.00
R4773:Ece1 UTSW 4 137,672,464 (GRCm39) missense probably benign 0.00
R5794:Ece1 UTSW 4 137,683,844 (GRCm39) missense probably damaging 0.99
R5969:Ece1 UTSW 4 137,689,051 (GRCm39) critical splice donor site probably null
R6056:Ece1 UTSW 4 137,688,958 (GRCm39) missense probably damaging 1.00
R6332:Ece1 UTSW 4 137,685,319 (GRCm39) missense probably damaging 1.00
R6648:Ece1 UTSW 4 137,648,470 (GRCm39) missense probably benign 0.00
R7285:Ece1 UTSW 4 137,641,074 (GRCm39) splice site probably null
R7387:Ece1 UTSW 4 137,666,095 (GRCm39) missense possibly damaging 0.69
R8103:Ece1 UTSW 4 137,641,133 (GRCm39) missense probably benign
R8294:Ece1 UTSW 4 137,675,931 (GRCm39) missense possibly damaging 0.60
R8308:Ece1 UTSW 4 137,664,075 (GRCm39) missense probably damaging 0.99
R8806:Ece1 UTSW 4 137,672,452 (GRCm39) missense probably damaging 1.00
R9578:Ece1 UTSW 4 137,641,133 (GRCm39) missense probably benign
X0063:Ece1 UTSW 4 137,653,686 (GRCm39) missense probably damaging 0.97
Z1176:Ece1 UTSW 4 137,648,338 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- GTGCCCTTGAATTTTCCATGAGTC -3'
(R):5'- TCAGCCACTCCATCCTGAGAAG -3'

Sequencing Primer
(F):5'- GAATTTTCCATGAGTCGCTCC -3'
(R):5'- TCCATCCTGAGAAGCCCAGG -3'
Posted On 2014-09-17