Mutagenetix > Incidental Mutation

Incidental Mutation 'R8806:Ece1'

672052

Institutional Source

Beutler Lab

Gene Symbol

Ece1

Ensembl Gene

ENSMUSG00000057530

Gene Name

endothelin converting enzyme 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.707) question?

Stock #

R8806 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137862237-137965229 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137945141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 365 (I365N)

Ref Sequence

ENSEMBL: ENSMUSP00000099576 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000102518
AA Change: I365N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099576
Gene: ENSMUSG00000057530
AA Change: I365N

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

Meta Mutation Damage Score

0.9442

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,261	D198G	probably benign	Het
Abca1	T	C	4: 53,084,520	M586V	probably benign	Het
Adam6b	G	A	12: 113,491,798	R745H	possibly damaging	Het
Afg3l1	A	G	8: 123,493,918	D462G	probably damaging	Het
Anapc1	T	A	2: 128,622,413	Q1721L	possibly damaging	Het
Arhgap11a	T	C	2: 113,834,762	Y497C	possibly damaging	Het
Bcl7b	T	G	5: 135,179,970	S96A	possibly damaging	Het
Birc6	T	C	17: 74,642,316	V3111A	probably damaging	Het
Cbx1	A	G	11: 96,801,557	D90G	possibly damaging	Het
Ccdc105	A	G	10: 78,752,472	V168A	probably damaging	Het
Cdkl3	T	C	11: 52,032,468	F524S	possibly damaging	Het
Cops7b	G	A	1: 86,589,309	G44R	probably damaging	Het
D130043K22Rik	A	G	13: 24,899,635	S1028G	probably benign	Het
Decr1	T	A	4: 15,945,351	M1L	probably benign	Het
Dmtn	T	C	14: 70,614,948	I167V	probably benign	Het
Dnah9	A	G	11: 65,859,483	L3932P	probably damaging	Het
Exo5	T	C	4: 120,922,405	T88A	probably benign	Het
Frem3	T	C	8: 80,663,435	Y1772H	probably benign	Het
Gm11639	T	A	11: 105,037,869	M4815K	probably benign	Het
Gm5160	A	G	18: 14,424,874	N3D	possibly damaging	Het
Gm7138	T	A	10: 77,776,883	D21V	unknown	Het
Gm7298	C	A	6: 121,784,682		silent	Het
Gucy2e	A	G	11: 69,236,116	V177A	probably benign	Het
Islr	C	A	9: 58,156,973	G417V	unknown	Het
Kif13a	A	T	13: 46,761,337	M1458K	possibly damaging	Het
Mcm7	T	C	5: 138,165,085	D642G	possibly damaging	Het
Med24	A	T	11: 98,705,144	I941N	probably damaging	Het
Mrgprb8	C	T	7: 48,389,228	P216S	possibly damaging	Het
Myo5c	T	A	9: 75,242,772	V13D	probably damaging	Het
N4bp2	T	A	5: 65,808,208	I1200K	possibly damaging	Het
Naip6	G	A	13: 100,300,653	T454M	possibly damaging	Het
Nfkb1	T	C	3: 135,589,452	Y877C	probably damaging	Het
Nolc1	C	A	19: 46,083,032	S473R	unknown	Het
Nop16	A	C	13: 54,589,859		probably benign	Het
Nr3c2	T	C	8: 77,242,463	I959T	probably damaging	Het
Nup88	T	G	11: 70,944,115	K692N	probably benign	Het
Nvl	C	A	1: 181,095,054	G818V	probably benign	Het
Olfr1046	T	C	2: 86,216,856	I285V	probably damaging	Het
Olfr1193	T	C	2: 88,678,611	V245A	probably benign	Het
Olfr1357	G	T	10: 78,612,140	T167N	probably benign	Het
Olfr731	T	A	14: 50,237,919	E322V	probably benign	Het
Olfr732	A	G	14: 50,281,779	I158T	probably benign	Het
Olfr913	A	T	9: 38,595,109	D296V	probably damaging	Het
Plxnc1	G	A	10: 94,799,278	S1362L	probably damaging	Het
Ppfia2	C	T	10: 106,858,253	A696V	probably damaging	Het
Prl	A	G	13: 27,059,532	Y62C	probably damaging	Het
Rnf135	A	G	11: 80,198,936	D366G	probably damaging	Het
Rrp8	A	G	7: 105,735,037	L86P	probably damaging	Het
Rsph4a	T	C	10: 33,909,449	V452A	probably damaging	Het
Runx2	C	A	17: 44,639,683	V410L	probably benign	Het
Samd9l	T	C	6: 3,376,665	T199A	probably damaging	Het
Sik3	T	C	9: 46,209,067	S745P	probably damaging	Het
Slc35e1	T	A	8: 72,488,129	S250C	probably damaging	Het
Snx31	A	G	15: 36,537,552	F160S	probably damaging	Het
Stim2	T	A	5: 53,998,915	V11E	probably benign	Het
Tmem135	G	C	7: 89,147,978	L357V	probably benign	Het
Tox4	T	C	14: 52,286,861	S151P	probably damaging	Het
Trim34b	A	T	7: 104,336,112	D318V	probably damaging	Het
Ubtd1	T	C	19: 42,033,756	S156P	probably damaging	Het
Usp34	C	A	11: 23,484,143	L3240M		Het
Vmn1r56	T	C	7: 5,195,806	S271G	probably damaging	Het
Vps13b	T	C	15: 35,472,066		probably benign	Het
Vps13c	T	C	9: 67,945,828	F2401S	probably damaging	Het
Zbtb11	G	A	16: 55,982,274	V216I	probably damaging	Het
Zfp931	T	C	2: 178,067,796	T266A	possibly damaging	Het
Zfp956	A	G	6: 47,956,108	M106V	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
R7285:Ece1	UTSW	4	137913763	splice site	probably null
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
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'- CGTTAGTCAGAAAGCCACAAAG -3'
(R):5'- GAGCTGGGATTCGAACCTGTAG -3'

Sequencing Primer
(F):5'- CAAAGCCTTCTGAGGAATGGCC -3'
(R):5'- CTGGGATTCGAACCTGTAGTCAGAAC -3'

Posted On

2021-04-30