Incidental Mutation 'IGL01992:Ecel1'
ID183587
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ecel1
Ensembl Gene ENSMUSG00000026247
Gene Nameendothelin converting enzyme-like 1
SynonymsXCE, DINE
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01992
Quality Score
Status
Chromosome1
Chromosomal Location87147655-87156521 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 87149855 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027463] [ENSMUST00000160810] [ENSMUST00000161002]
Predicted Effect probably benign
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 benign
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 benign
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187198
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933417A18Rik C T 13: 34,924,533 probably null Het
Ano3 A G 2: 110,658,219 M956T probably damaging Het
Ap2b1 T G 11: 83,335,530 V289G probably damaging Het
Asna1 G A 8: 85,018,556 A294V possibly damaging Het
Cacnb4 G T 2: 52,465,670 H208Q probably damaging Het
Cd5l G A 3: 87,367,811 R219Q probably benign Het
Dzip1l G T 9: 99,663,686 G663W probably damaging Het
Eno1 A G 4: 150,239,536 T19A probably damaging Het
Fam26f A T 10: 34,127,537 C125S probably damaging Het
Fam46c A T 3: 100,472,630 M270K probably damaging Het
Fndc3a G A 14: 72,574,556 T315I probably benign Het
Galr1 T C 18: 82,393,817 N308S probably damaging Het
Maf A T 8: 115,705,963 S301T probably damaging Het
Map3k5 C T 10: 20,029,133 R394* probably null Het
Mroh8 C T 2: 157,213,696 G994D probably damaging Het
Myo10 T C 15: 25,799,548 V653A possibly damaging Het
Nucks1 A G 1: 131,931,090 K196E unknown Het
Nupl2 T C 5: 24,181,103 V211A probably benign Het
Olfr18 A T 9: 20,314,719 I59N probably damaging Het
Olfr732 C A 14: 50,281,341 R304L probably benign Het
Olfr851 A T 9: 19,496,774 I9F probably benign Het
Piwil1 C T 5: 128,747,332 T493I probably null Het
Plcd1 T C 9: 119,075,985 H216R probably benign Het
Pmp2 A T 3: 10,182,481 Y49* probably null Het
Rnf38 A G 4: 44,138,806 V229A probably damaging Het
Saxo2 T C 7: 82,634,900 D250G probably damaging Het
Scn8a T G 15: 100,969,057 V98G probably damaging Het
Scnn1a T A 6: 125,338,937 probably null Het
Sepsecs C T 5: 52,644,060 R420Q probably benign Het
Slit2 T C 5: 48,238,417 S725P probably benign Het
Stk16 A G 1: 75,213,191 Q207R probably benign Het
Tapt1 C T 5: 44,178,990 V446M probably damaging Het
Tnni3k A C 3: 154,962,026 V250G probably damaging Het
Ttll8 C T 15: 88,915,645 G531E possibly damaging Het
U2surp A G 9: 95,482,181 F561L probably damaging Het
U2surp T A 9: 95,464,419 E862D possibly damaging Het
Unc5d A G 8: 28,652,791 Y878H probably damaging Het
Ust A G 10: 8,298,078 M221T probably benign Het
Wasf3 T C 5: 146,455,591 F157S probably damaging Het
Wdr64 G A 1: 175,706,071 C91Y probably damaging Het
Zan T C 5: 137,424,106 Y2750C unknown Het
Other mutations in Ecel1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Ecel1 APN 1 87153193 missense possibly damaging 0.84
IGL01431:Ecel1 APN 1 87151504 missense probably damaging 0.99
IGL02040:Ecel1 APN 1 87154923 missense probably benign 0.32
IGL02230:Ecel1 APN 1 87152194 missense probably damaging 1.00
IGL02801:Ecel1 APN 1 87152003 missense probably damaging 1.00
Capulin UTSW 1 87153301 missense probably damaging 0.99
R0139:Ecel1 UTSW 1 87154526 missense possibly damaging 0.95
R1723:Ecel1 UTSW 1 87154421 missense probably benign 0.37
R2118:Ecel1 UTSW 1 87148275 missense probably damaging 1.00
R2119:Ecel1 UTSW 1 87148275 missense probably damaging 1.00
R2120:Ecel1 UTSW 1 87148275 missense probably damaging 1.00
R2122:Ecel1 UTSW 1 87148275 missense probably damaging 1.00
R3815:Ecel1 UTSW 1 87152900 missense probably damaging 0.97
R3836:Ecel1 UTSW 1 87150656 missense probably damaging 1.00
R4211:Ecel1 UTSW 1 87152150 missense probably damaging 1.00
R4685:Ecel1 UTSW 1 87152946 splice site probably null
R4841:Ecel1 UTSW 1 87153301 missense probably damaging 0.99
R4842:Ecel1 UTSW 1 87153301 missense probably damaging 0.99
R4888:Ecel1 UTSW 1 87148727 splice site probably benign
R4976:Ecel1 UTSW 1 87151139 missense probably benign 0.17
R5032:Ecel1 UTSW 1 87154253 missense probably damaging 0.97
R5119:Ecel1 UTSW 1 87151139 missense probably benign 0.17
R5393:Ecel1 UTSW 1 87152876 missense possibly damaging 0.95
R5798:Ecel1 UTSW 1 87151483 missense probably damaging 1.00
R5862:Ecel1 UTSW 1 87149596 missense probably benign 0.19
R5874:Ecel1 UTSW 1 87148009 missense probably benign 0.24
R6341:Ecel1 UTSW 1 87150471 splice site probably null
R6351:Ecel1 UTSW 1 87149509 missense possibly damaging 0.56
R6534:Ecel1 UTSW 1 87154842 missense probably benign 0.13
Posted On2014-05-07