Mutagenetix > Incidental Mutation

Incidental Mutation 'R7285:Ece1'

590956

Institutional Source

Beutler Lab

Gene Symbol

Ece1

Ensembl Gene

ENSMUSG00000057530

Gene Name

endothelin converting enzyme 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.725) question?

Stock #

R7285 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137862237-137965229 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 137913763 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102518] [ENSMUST00000130407] [ENSMUST00000151110]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000102518

SMART Domains

Protein: ENSMUSP00000099576
Gene: ENSMUSG00000057530

Domain	Start	End	E-Value	Type
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

Predicted Effect

probably null
Transcript: ENSMUST00000130407

Predicted Effect

probably null
Transcript: ENSMUST00000151110

SMART Domains

Protein: ENSMUSP00000114671
Gene: ENSMUSG00000057530

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
Pfam:Peptidase_M13_N	121	206	1.4e-29	PFAM

Meta Mutation Damage Score

0.9698

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	T	C	13: 58,384,385	Y119C	probably damaging	Het
Abca12	A	T	1: 71,349,155	C185*	probably null	Het
Abcc3	C	T	11: 94,357,047	A1207T	probably benign	Het
Adam1b	T	G	5: 121,500,993	D663A	probably damaging	Het
Arhgap12	A	T	18: 6,111,920	L148Q	probably damaging	Het
Cdh4	A	T	2: 179,797,465	Q135L	probably benign	Het
Clca3b	T	C	3: 144,837,758	I437V	probably benign	Het
Cldn15	A	T	5: 136,972,473	H124L	probably benign	Het
Cyp4a30b	T	C	4: 115,456,651	M143T	probably damaging	Het
Dgcr2	A	T	16: 17,845,080	C353*	probably null	Het
Dhcr24	T	A	4: 106,571,519		probably null	Het
Dock1	T	G	7: 134,745,008	L223R	probably benign	Het
Efcab5	A	G	11: 77,137,344	V387A	probably benign	Het
Efcab5	A	G	11: 77,138,215	F97L	possibly damaging	Het
Eme2	A	T	17: 24,894,569		probably null	Het
Enpp1	G	A	10: 24,660,161	T447I	probably benign	Het
Fam222b	T	C	11: 78,143,181	S17P	probably benign	Het
Fbln1	A	G	15: 85,237,628	I317V	probably benign	Het
Fn1	T	C	1: 71,637,339	K578E	probably damaging	Het
Fscb	A	T	12: 64,471,549	S1048T	unknown	Het
Fsd1l	T	A	4: 53,682,200		probably null	Het
Gm340	A	G	19: 41,584,315	K503R	possibly damaging	Het
Hexa	T	A	9: 59,563,939	I492K	probably benign	Het
Inpp5e	G	A	2: 26,397,858	A642V	probably benign	Het
Ints11	C	T	4: 155,886,111	A241V	probably damaging	Het
Irs2	A	G	8: 11,006,797	L545P	probably damaging	Het
Katnal2	G	A	18: 76,993,575	A409V	probably benign	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Lbx2	A	G	6: 83,087,896	K138R	probably damaging	Het
Lpp	G	A	16: 24,977,279	A558T	probably damaging	Het
Lypla1	T	C	1: 4,841,098	I202T	probably benign	Het
Magi3	G	A	3: 104,034,114	P842S	probably benign	Het
Meioc	G	A	11: 102,666,342	V25M	probably benign	Het
Mthfr	C	T	4: 148,053,599	T557I	probably benign	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Olfr1165-ps	A	T	2: 88,101,705	I94N	probably damaging	Het
Olfr314	T	A	11: 58,786,484	Y83*	probably null	Het
Osbpl10	A	T	9: 115,223,703	I440F	probably damaging	Het
Otx2	G	A	14: 48,661,465	A36V	probably benign	Het
Parg	A	G	14: 32,210,508	Y435C	probably damaging	Het
Parvb	A	T	15: 84,282,784	D100V	possibly damaging	Het
Prss27	A	G	17: 24,045,691	H276R	probably benign	Het
Prune1	T	A	3: 95,255,046	S439C	probably damaging	Het
Pudp	C	G	18: 50,568,216	E149Q	possibly damaging	Het
Sin3a	C	A	9: 57,127,299	T1252N	possibly damaging	Het
Sptbn2	A	G	19: 4,737,443	D927G	probably benign	Het
Stx18	C	T	5: 38,104,907	T89I	possibly damaging	Het
Ticrr	T	C	7: 79,660,862	S175P	possibly damaging	Het
Tinag	T	C	9: 77,045,661	T14A	probably benign	Het
Tmco3	G	A	8: 13,319,605		probably null	Het
Trpm1	G	T	7: 64,209,981	E396*	probably null	Het
Txndc11	A	G	16: 11,084,299	Y684H	probably damaging	Het
Usp47	G	A	7: 112,093,108	E926K	probably benign	Het
Vmn1r233	A	G	17: 20,993,959	I243T	probably damaging	Het
Ythdf3	T	A	3: 16,203,885		probably null	Het
Zfp12	A	G	5: 143,244,689	K289R	probably damaging	Het
Zfp950	T	A	19: 61,119,112	H511L	probably benign	Het

Other mutations in Ece1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Ece1	APN	4	137938658	missense	probably damaging	1.00
IGL01538:Ece1	APN	4	137948544	missense	probably benign
IGL01588:Ece1	APN	4	137957206	splice site	probably benign
IGL01678:Ece1	APN	4	137962733	missense	probably damaging	1.00
IGL02619:Ece1	APN	4	137938733	missense	probably benign	0.08
IGL02936:Ece1	APN	4	137946301	missense	probably benign	0.01
IGL02956:Ece1	APN	4	137962838	missense	probably damaging	0.99
IGL03332:Ece1	APN	4	137946355	missense	probably damaging	0.99
R0063:Ece1	UTSW	4	137948581	missense	probably benign	0.14
R0240:Ece1	UTSW	4	137949435	splice site	probably benign
R1004:Ece1	UTSW	4	137926239	missense	probably benign	0.04
R1515:Ece1	UTSW	4	137951508	missense	probably benign	0.00
R1541:Ece1	UTSW	4	137948660	splice site	probably null
R1796:Ece1	UTSW	4	137958001	missense	probably damaging	1.00
R1834:Ece1	UTSW	4	137958001	missense	probably damaging	1.00
R1834:Ece1	UTSW	4	137958128	missense	probably damaging	0.99
R1836:Ece1	UTSW	4	137958001	missense	probably damaging	1.00
R1930:Ece1	UTSW	4	137938763	missense	probably benign	0.01
R1931:Ece1	UTSW	4	137938763	missense	probably benign	0.01
R2065:Ece1	UTSW	4	137958082	missense	probably benign	0.04
R2281:Ece1	UTSW	4	137946362	missense	possibly damaging	0.93
R3118:Ece1	UTSW	4	137948544	missense	probably benign
R4720:Ece1	UTSW	4	137957175	missense	probably damaging	1.00
R4773:Ece1	UTSW	4	137945153	missense	probably benign	0.00
R5794:Ece1	UTSW	4	137956533	missense	probably damaging	0.99
R5969:Ece1	UTSW	4	137961740	critical splice donor site	probably null
R6056:Ece1	UTSW	4	137961647	missense	probably damaging	1.00
R6332:Ece1	UTSW	4	137958008	missense	probably damaging	1.00
R6648:Ece1	UTSW	4	137921159	missense	probably benign	0.00
R7387:Ece1	UTSW	4	137938784	missense	possibly damaging	0.69
R8103:Ece1	UTSW	4	137913822	missense	probably benign
R8294:Ece1	UTSW	4	137948620	missense	possibly damaging	0.60
R8308:Ece1	UTSW	4	137936764	missense	probably damaging	0.99
R8806:Ece1	UTSW	4	137945141	missense	probably damaging	1.00
R9578:Ece1	UTSW	4	137913822	missense	probably benign
X0063:Ece1	UTSW	4	137926375	missense	probably damaging	0.97
Z1176:Ece1	UTSW	4	137921027	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- GGGACCTCATTGTAAAAGAAACCTC -3'
(R):5'- GGAAACCAGCCTCAGAGTAC -3'

Sequencing Primer
(F):5'- AACTCTCGCGGAAGGCCTG -3'
(R):5'- CAGAGCTGCTTGTGTGCAC -3'

Posted On

2019-10-25