Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02230:Ecel1'

285644

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ecel1

Ensembl Gene

ENSMUSG00000026247

Gene Name

endothelin converting enzyme-like 1

Synonyms

XCE, DINE

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02230

Quality Score

Status

Chromosome

Chromosomal Location

87147655-87156521 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87152194 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 399 (N399S)

Ref Sequence

ENSEMBL: ENSMUSP00000125096 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027463] [ENSMUST00000160810] [ENSMUST00000161002]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027463
AA Change: N399S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027463
Gene: ENSMUSG00000026247
AA Change: N399S

Domain	Start	End	E-Value	Type
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

probably damaging
Transcript: ENSMUST00000160810
AA Change: N399S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125557
Gene: ENSMUSG00000026247
AA Change: N399S

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000161002
AA Change: N399S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125096
Gene: ENSMUSG00000026247
AA Change: N399S

Domain	Start	End	E-Value	Type
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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,171,830	T727S	probably benign	Het
Cyp4a12b	A	T	4: 115,433,996	I374F	probably damaging	Het
Fpr-rs3	T	C	17: 20,623,928	E317G	probably damaging	Het
Gm10030	T	A	9: 111,006,390		noncoding transcript	Het
Gm4884	A	T	7: 41,043,405	Q266L	probably damaging	Het
Gpr45	C	A	1: 43,032,656	A153E	probably damaging	Het
Hc	A	G	2: 35,013,670	F991L	probably benign	Het
Hif1a	T	G	12: 73,932,450	D249E	probably damaging	Het
Hsd17b12	A	G	2: 94,045,398	L194P	possibly damaging	Het
Hspg2	T	C	4: 137,518,645	S947P	probably damaging	Het
Kng1	G	T	16: 23,060,494		probably null	Het
Lpp	C	T	16: 24,762,145	R204W	probably damaging	Het
Lrrc4	T	A	6: 28,830,880	K245N	probably damaging	Het
Mdga2	G	A	12: 66,655,423	R335*	probably null	Het
Naa16	A	T	14: 79,377,361		probably benign	Het
Ncbp1	C	A	4: 46,165,272	N528K	probably benign	Het
Olfr57	T	A	10: 79,035,042	M82K	probably damaging	Het
Olfr714	A	G	7: 107,074,493	I222V	probably damaging	Het
Pipox	A	G	11: 77,881,206	L364P	probably damaging	Het
R3hdm4	C	A	10: 79,912,091	A206S	probably damaging	Het
Rasgrf2	A	G	13: 91,988,026	I589T	probably damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,354	E24G	probably damaging	Het
Sec24a	T	C	11: 51,709,034	I815V	possibly damaging	Het
Serpina16	A	G	12: 103,675,302	Y55H	probably damaging	Het
Sirt2	C	T	7: 28,778,946	R83C	probably damaging	Het
Sntg1	A	T	1: 8,681,971		probably null	Het
Stmn1	A	G	4: 134,472,913	E99G	probably damaging	Het
Tas2r103	T	C	6: 133,037,056	I16V	possibly damaging	Het
Vit	A	G	17: 78,619,627	K334E	probably damaging	Het
Washc4	T	C	10: 83,581,369	I876T	probably benign	Het
Wrn	A	T	8: 33,317,563	V289D	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Ecel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Ecel1	APN	1	87153193	missense	possibly damaging	0.84
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
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
R7939:Ecel1	UTSW	1	87149534	missense	probably benign	0.19
R7950:Ecel1	UTSW	1	87148269	missense	probably damaging	0.98
R8022:Ecel1	UTSW	1	87153330	missense	probably benign	0.34
R8856:Ecel1	UTSW	1	87152038	missense	probably damaging	1.00

Posted On

2015-04-16