Incidental Mutation 'R7405:Ecel1'
ID 574479
Institutional Source Beutler Lab
Gene Symbol Ecel1
Ensembl Gene ENSMUSG00000026247
Gene Name endothelin converting enzyme-like 1
Synonyms XCE, DINE
MMRRC Submission 045376-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7405 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 87075377-87084243 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 87081238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027463] [ENSMUST00000160810] [ENSMUST00000161002]
AlphaFold Q9JMI0
Predicted Effect probably null
Transcript: ENSMUST00000027463
SMART Domains Protein: ENSMUSP00000027463
Gene: ENSMUSG00000026247

DomainStartEndE-ValueType
low complexity region 32 54 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
low complexity region 86 102 N/A INTRINSIC
Pfam:Peptidase_M13_N 124 513 6.4e-112 PFAM
Pfam:Peptidase_M13 571 774 5.2e-66 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000160810
SMART Domains Protein: ENSMUSP00000125557
Gene: ENSMUSG00000026247

DomainStartEndE-ValueType
low complexity region 32 54 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
low complexity region 86 102 N/A INTRINSIC
Pfam:Peptidase_M13_N 124 513 1.2e-98 PFAM
Pfam:Peptidase_M13 571 774 2.3e-72 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000161002
SMART Domains Protein: ENSMUSP00000125096
Gene: ENSMUSG00000026247

DomainStartEndE-ValueType
low complexity region 32 54 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
low complexity region 86 102 N/A INTRINSIC
Pfam:Peptidase_M13_N 124 513 6.4e-112 PFAM
Pfam:Peptidase_M13 571 774 5.2e-66 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
PHENOTYPE: Targeted mutations of this gene result in respiratory distress causing neonatal lethality due to reduced diaphram innervation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G T 17: 9,220,649 (GRCm39) V383L probably damaging Het
4930507D05Rik C A 10: 62,285,563 (GRCm39) H96N unknown Het
5730480H06Rik T C 5: 48,545,458 (GRCm39) I235T possibly damaging Het
Abcb11 A G 2: 69,117,963 (GRCm39) Y472H probably damaging Het
Adam39 A T 8: 41,277,659 (GRCm39) I17L probably benign Het
Aire T C 10: 77,870,447 (GRCm39) H458R probably benign Het
Ap3d1 T C 10: 80,577,734 (GRCm39) D31G probably benign Het
Atad2b T A 12: 4,993,232 (GRCm39) H250Q probably benign Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Borcs5 C A 6: 134,662,945 (GRCm39) T74N probably benign Het
Btbd16 C T 7: 130,407,586 (GRCm39) T292I probably benign Het
Catsperd G A 17: 56,939,335 (GRCm39) V55M possibly damaging Het
Cfap107 T C 4: 144,146,323 (GRCm39) N110S probably damaging Het
Ctr9 T C 7: 110,642,921 (GRCm39) F462S possibly damaging Het
Cyp4f39 A G 17: 32,700,789 (GRCm39) S153G probably benign Het
Ddo T C 10: 40,523,993 (GRCm39) C328R possibly damaging Het
Ddr1 A G 17: 36,000,992 (GRCm39) V251A probably damaging Het
Dis3l A G 9: 64,221,986 (GRCm39) F475L probably damaging Het
Dkk4 G A 8: 23,115,859 (GRCm39) V99M probably benign Het
Dync1h1 C T 12: 110,600,654 (GRCm39) A1938V probably damaging Het
Fbxo7 T A 10: 85,880,445 (GRCm39) Y377N probably damaging Het
Fbxw24 T C 9: 109,436,136 (GRCm39) I299V possibly damaging Het
Fkbp10 C T 11: 100,306,707 (GRCm39) A33V probably damaging Het
Gabra1 T C 11: 42,045,850 (GRCm39) T87A probably damaging Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Golga3 A T 5: 110,356,312 (GRCm39) I1000F probably damaging Het
Grid2ip T C 5: 143,366,199 (GRCm39) I563T probably benign Het
Gsx1 T C 5: 147,125,943 (GRCm39) S82P possibly damaging Het
Heg1 A G 16: 33,583,819 (GRCm39) K34E possibly damaging Het
Kank1 T A 19: 25,387,683 (GRCm39) L452* probably null Het
Lce1k A T 3: 92,714,181 (GRCm39) M1K probably null Het
Lcmt2 A G 2: 120,969,868 (GRCm39) I185T probably benign Het
Lrp1 T C 10: 127,417,620 (GRCm39) D1046G possibly damaging Het
Lrrc37 A T 11: 103,505,987 (GRCm39) Y1994N probably benign Het
Mast3 A T 8: 71,238,815 (GRCm39) D496E probably damaging Het
Mst1r C T 9: 107,792,321 (GRCm39) S925F possibly damaging Het
Mterf2 C T 10: 84,956,360 (GRCm39) G88D probably damaging Het
Mthfd1 T C 12: 76,358,648 (GRCm39) V783A probably damaging Het
Mybpc2 A T 7: 44,156,618 (GRCm39) W778R probably damaging Het
Nbea A G 3: 55,712,687 (GRCm39) L2130P possibly damaging Het
Ndst4 A G 3: 125,476,865 (GRCm39) N30S probably benign Het
Nphs1 T C 7: 30,162,253 (GRCm39) V299A possibly damaging Het
Nup107 T C 10: 117,606,320 (GRCm39) D474G probably benign Het
Or10ag56 A C 2: 87,139,339 (GRCm39) I89L probably benign Het
Or10w1 T C 19: 13,632,246 (GRCm39) V151A probably benign Het
Or2w25 T A 11: 59,504,899 (GRCm39) F370I possibly damaging Het
Or7a42 T C 10: 78,791,531 (GRCm39) V164A probably benign Het
Pgap2 T C 7: 101,880,595 (GRCm39) V41A probably benign Het
Plekhh1 C T 12: 79,101,821 (GRCm39) T297I probably benign Het
Plxna4 A T 6: 32,173,254 (GRCm39) Y1226N probably benign Het
Polr3b A G 10: 84,520,043 (GRCm39) D653G probably benign Het
Ppp2r2c T C 5: 37,104,486 (GRCm39) F289L possibly damaging Het
Prickle2 A G 6: 92,435,524 (GRCm39) S82P probably damaging Het
Ptger2 T A 14: 45,226,531 (GRCm39) V37D probably damaging Het
Rasa2 G A 9: 96,448,080 (GRCm39) P526S probably benign Het
Rbm47 A T 5: 66,183,838 (GRCm39) I255N probably damaging Het
Sez6 A T 11: 77,853,717 (GRCm39) T296S probably benign Het
Slc2a9 T A 5: 38,549,167 (GRCm39) I316F probably damaging Het
Slc41a1 T A 1: 131,766,884 (GRCm39) V134D probably damaging Het
Slc5a7 A T 17: 54,604,161 (GRCm39) S2T probably benign Het
Slc9a4 C T 1: 40,640,086 (GRCm39) R293C probably damaging Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Suco A G 1: 161,655,783 (GRCm39) F1039L possibly damaging Het
Sycp1 A G 3: 102,832,543 (GRCm39) Y208H possibly damaging Het
Tpr T C 1: 150,317,878 (GRCm39) S2129P probably benign Het
Trim34b T A 7: 103,985,690 (GRCm39) S442T probably damaging Het
Ttn A T 2: 76,573,690 (GRCm39) Y25734* probably null Het
Uchl5 C T 1: 143,675,752 (GRCm39) Q276* probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Yeats2 T A 16: 20,041,663 (GRCm39) D1184E probably damaging Het
Zfat G A 15: 68,056,334 (GRCm39) R241W probably damaging Het
Zfp646 T A 7: 127,477,968 (GRCm39) Y48* probably null Het
Zfp998 T C 13: 66,579,118 (GRCm39) Q455R unknown Het
Other mutations in Ecel1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Ecel1 APN 1 87,080,915 (GRCm39) missense possibly damaging 0.84
IGL01431:Ecel1 APN 1 87,079,226 (GRCm39) missense probably damaging 0.99
IGL01992:Ecel1 APN 1 87,077,577 (GRCm39) splice site probably benign
IGL02040:Ecel1 APN 1 87,082,645 (GRCm39) missense probably benign 0.32
IGL02230:Ecel1 APN 1 87,079,916 (GRCm39) missense probably damaging 1.00
IGL02801:Ecel1 APN 1 87,079,725 (GRCm39) missense probably damaging 1.00
Capulin UTSW 1 87,081,023 (GRCm39) missense probably damaging 0.99
R0139:Ecel1 UTSW 1 87,082,248 (GRCm39) missense possibly damaging 0.95
R1723:Ecel1 UTSW 1 87,082,143 (GRCm39) missense probably benign 0.37
R2118:Ecel1 UTSW 1 87,075,997 (GRCm39) missense probably damaging 1.00
R2119:Ecel1 UTSW 1 87,075,997 (GRCm39) missense probably damaging 1.00
R2120:Ecel1 UTSW 1 87,075,997 (GRCm39) missense probably damaging 1.00
R2122:Ecel1 UTSW 1 87,075,997 (GRCm39) missense probably damaging 1.00
R3815:Ecel1 UTSW 1 87,080,622 (GRCm39) missense probably damaging 0.97
R3836:Ecel1 UTSW 1 87,078,378 (GRCm39) missense probably damaging 1.00
R4211:Ecel1 UTSW 1 87,079,872 (GRCm39) missense probably damaging 1.00
R4685:Ecel1 UTSW 1 87,080,668 (GRCm39) splice site probably null
R4841:Ecel1 UTSW 1 87,081,023 (GRCm39) missense probably damaging 0.99
R4842:Ecel1 UTSW 1 87,081,023 (GRCm39) missense probably damaging 0.99
R4888:Ecel1 UTSW 1 87,076,449 (GRCm39) splice site probably benign
R4976:Ecel1 UTSW 1 87,078,861 (GRCm39) missense probably benign 0.17
R5032:Ecel1 UTSW 1 87,081,975 (GRCm39) missense probably damaging 0.97
R5119:Ecel1 UTSW 1 87,078,861 (GRCm39) missense probably benign 0.17
R5393:Ecel1 UTSW 1 87,080,598 (GRCm39) missense possibly damaging 0.95
R5798:Ecel1 UTSW 1 87,079,205 (GRCm39) missense probably damaging 1.00
R5862:Ecel1 UTSW 1 87,077,318 (GRCm39) missense probably benign 0.19
R5874:Ecel1 UTSW 1 87,075,731 (GRCm39) missense probably benign 0.24
R6341:Ecel1 UTSW 1 87,078,193 (GRCm39) splice site probably null
R6351:Ecel1 UTSW 1 87,077,231 (GRCm39) missense possibly damaging 0.56
R6534:Ecel1 UTSW 1 87,082,564 (GRCm39) missense probably benign 0.13
R7422:Ecel1 UTSW 1 87,077,334 (GRCm39) missense probably damaging 1.00
R7850:Ecel1 UTSW 1 87,079,745 (GRCm39) missense probably damaging 1.00
R7939:Ecel1 UTSW 1 87,077,256 (GRCm39) missense probably benign 0.19
R7950:Ecel1 UTSW 1 87,075,991 (GRCm39) missense probably damaging 0.98
R8022:Ecel1 UTSW 1 87,081,052 (GRCm39) missense probably benign 0.34
R8856:Ecel1 UTSW 1 87,079,760 (GRCm39) missense probably damaging 1.00
R8954:Ecel1 UTSW 1 87,076,349 (GRCm39) nonsense probably null
R8967:Ecel1 UTSW 1 87,078,862 (GRCm39) missense probably damaging 0.98
R9248:Ecel1 UTSW 1 87,081,112 (GRCm39) missense probably benign 0.00
R9395:Ecel1 UTSW 1 87,082,350 (GRCm39) missense probably damaging 0.99
R9487:Ecel1 UTSW 1 87,075,716 (GRCm39) missense probably damaging 1.00
R9620:Ecel1 UTSW 1 87,080,853 (GRCm39) missense possibly damaging 0.65
R9676:Ecel1 UTSW 1 87,079,743 (GRCm39) missense probably damaging 1.00
R9694:Ecel1 UTSW 1 87,080,853 (GRCm39) missense possibly damaging 0.65
Predicted Primers PCR Primer
(F):5'- CTCTGTTCCAGCTGAAGGATTTC -3'
(R):5'- ATGATCCCGGAGCTTGTGAC -3'

Sequencing Primer
(F):5'- AGGATTTCCTGCGCCTTCTG -3'
(R):5'- GACAACAGATCCGTATTTGACTCGTC -3'
Posted On 2019-09-13