Incidental Mutation 'IGL01161:Ecel1'
ID53385
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 #IGL01161
Quality Score
Status
Chromosome1
Chromosomal Location87147655-87156521 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87153193 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 329 (D329G)
Ref Sequence ENSEMBL: ENSMUSP00000125096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027463] [ENSMUST00000160810] [ENSMUST00000161002]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027463
AA Change: D329G

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027463
Gene: ENSMUSG00000026247
AA Change: D329G

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: ENSMUST00000159662
Predicted Effect possibly damaging
Transcript: ENSMUST00000160810
AA Change: D329G

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125557
Gene: ENSMUSG00000026247
AA Change: D329G

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 possibly damaging
Transcript: ENSMUST00000161002
AA Change: D329G

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125096
Gene: ENSMUSG00000026247
AA Change: D329G

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 T A 2: 103,705,118 D543E probably benign Het
Acad9 A C 3: 36,090,125 N583T possibly damaging Het
Arhgap5 G A 12: 52,516,860 V205M probably damaging Het
Arid1b G A 17: 5,342,399 R2068Q probably damaging Het
Bex3 T C X: 136,271,469 F60S probably damaging Het
Casd1 C T 6: 4,619,833 P193S possibly damaging Het
Ceacam11 A T 7: 17,978,510 I295F possibly damaging Het
Ceacam3 T A 7: 17,151,857 N128K probably benign Het
Cyp1a2 C T 9: 57,679,893 E372K probably damaging Het
Ddb1 T G 19: 10,605,707 M1R probably null Het
Fat2 T C 11: 55,284,191 N1899D probably benign Het
Gli3 A G 13: 15,548,398 probably null Het
Gm20507 A T 17: 33,644,753 probably benign Het
Gml T G 15: 74,813,839 Y99S probably damaging Het
Gpr119 G T X: 48,673,248 probably benign Het
Hcn1 T C 13: 117,656,922 Y237H unknown Het
Hook2 G A 8: 84,994,931 V273I probably benign Het
Il12rb2 T C 6: 67,361,865 probably benign Het
Kdm2a A G 19: 4,319,251 F1112S probably benign Het
Lpl A T 8: 68,892,625 K94* probably null Het
Lrrc8a T A 2: 30,255,810 L212Q probably damaging Het
Me2 A T 18: 73,770,816 probably benign Het
Mmp11 A T 10: 75,926,821 M266K probably benign Het
Mprip T A 11: 59,731,573 V162E possibly damaging Het
Nsf C T 11: 103,861,885 probably benign Het
Olfr661 T C 7: 104,688,381 V122A probably benign Het
Pcif1 T A 2: 164,885,788 L167H probably damaging Het
Reps1 T C 10: 18,093,895 S249P probably damaging Het
Sdf4 T A 4: 156,009,306 M299K probably benign Het
Slc30a7 A G 3: 115,954,110 V344A possibly damaging Het
Svep1 G A 4: 58,146,569 P358S probably damaging Het
Syt9 G T 7: 107,425,149 R83L probably damaging Het
Tbc1d15 T C 10: 115,202,530 I593V probably benign Het
Trio T A 15: 27,749,781 N1134I probably damaging Het
Trpv3 A G 11: 73,296,718 probably benign Het
Ugp2 T A 11: 21,323,273 I449L possibly damaging Het
Usp24 C A 4: 106,436,844 H2595N probably benign Het
Vat1l A G 8: 114,369,889 N370S possibly damaging Het
Wwc1 C A 11: 35,867,276 D748Y probably damaging Het
Zfyve9 G A 4: 108,681,064 H1002Y probably damaging Het
Other mutations in Ecel1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Ecel1 APN 1 87151504 missense probably damaging 0.99
IGL01992:Ecel1 APN 1 87149855 splice site probably benign
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
R7405:Ecel1 UTSW 1 87153516 critical splice donor site probably null
R7422:Ecel1 UTSW 1 87149612 missense probably damaging 1.00
R7850:Ecel1 UTSW 1 87152023 missense probably damaging 1.00
R7933:Ecel1 UTSW 1 87152023 missense probably damaging 1.00
R8022:Ecel1 UTSW 1 87153330 missense probably benign 0.34
Posted On2013-06-28