Mutagenetix > Incidental Mutation

Incidental Mutation 'R4720:Ece1'

354361

Institutional Source

Beutler Lab

Gene Symbol

Ece1

Ensembl Gene

ENSMUSG00000057530

Gene Name

endothelin converting enzyme 1

Synonyms

MMRRC Submission

041958-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.800) question?

Stock #

R4720 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137589548-137692540 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 137684486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 591 (E591K)

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: E591K

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

SMART Domains

Protein: ENSMUSP00000099576
Gene: ENSMUSG00000057530
AA Change: E591K

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,018,248 (GRCm39)	I1124T	probably damaging	Het
Acacb	A	G	5: 114,367,975 (GRCm39)	T1658A	possibly damaging	Het
Acvrl1	C	A	15: 101,033,654 (GRCm39)	P112Q	probably damaging	Het
Ankar	A	T	1: 72,738,170 (GRCm39)	I4K	possibly damaging	Het
Ankfn1	G	C	11: 89,332,252 (GRCm39)	D431E	possibly damaging	Het
Apobec4	T	C	1: 152,632,425 (GRCm39)	V151A	possibly damaging	Het
Atp10b	A	G	11: 43,093,949 (GRCm39)	S498G	probably benign	Het
Azin1	A	G	15: 38,493,744 (GRCm39)	V293A	probably benign	Het
Ccdc88b	T	C	19: 6,835,083 (GRCm39)	E46G	probably damaging	Het
Ccdc96	T	C	5: 36,642,219 (GRCm39)		probably benign	Het
Ccnyl1	A	G	1: 64,752,290 (GRCm39)	D169G	probably benign	Het
Cdca3	T	A	6: 124,809,127 (GRCm39)	V89E	probably damaging	Het
Cdh19	A	T	1: 110,823,111 (GRCm39)		probably null	Het
Chka	G	A	19: 3,936,375 (GRCm39)	V238I	probably damaging	Het
Cntn3	T	C	6: 102,218,983 (GRCm39)	K546E	possibly damaging	Het
Crybg3	A	G	16: 59,360,180 (GRCm39)	V787A	probably damaging	Het
Dlgap3	T	C	4: 127,089,508 (GRCm39)		probably null	Het
Dnah8	C	T	17: 30,902,608 (GRCm39)	L889F	probably benign	Het
Dnah9	T	C	11: 65,967,184 (GRCm39)	E1658G	probably damaging	Het
Dnajc11	A	G	4: 152,052,996 (GRCm39)	D102G	probably damaging	Het
Dync1i2	T	G	2: 71,064,018 (GRCm39)	S121A	probably damaging	Het
Enthd1	G	A	15: 80,444,510 (GRCm39)	S15L	probably damaging	Het
Epb41l2	T	A	10: 25,347,524 (GRCm39)	H372Q	probably damaging	Het
Errfi1	T	A	4: 150,951,204 (GRCm39)	Y211N	probably damaging	Het
Fam193b	G	A	13: 55,691,250 (GRCm39)	T208M	probably benign	Het
Flacc1	T	C	1: 58,717,507 (GRCm39)	I135V	possibly damaging	Het
Fmnl2	C	T	2: 52,997,552 (GRCm39)	T501M	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm4841	G	T	18: 60,403,135 (GRCm39)	D319E	probably benign	Het
Gucd1	A	G	10: 75,345,494 (GRCm39)	F187S	probably damaging	Het
Hcar2	GCGGATGCGCAC	GC	5: 124,002,752 (GRCm39)		probably null	Het
Helz2	T	C	2: 180,880,210 (GRCm39)	D502G	probably damaging	Het
Hspa2	A	G	12: 76,451,639 (GRCm39)	E111G	possibly damaging	Het
Htr2a	T	A	14: 74,882,499 (GRCm39)	S162T	probably damaging	Het
Ift80	A	G	3: 68,869,623 (GRCm39)	Y223H	possibly damaging	Het
Il1rl1	A	G	1: 40,485,838 (GRCm39)	K330E	probably benign	Het
Il23r	A	T	6: 67,400,645 (GRCm39)	F562I	probably damaging	Het
Isx	T	C	8: 75,600,487 (GRCm39)		probably null	Het
Jcad	G	A	18: 4,674,055 (GRCm39)	V606I	probably benign	Het
Kcnn2	A	T	18: 45,816,187 (GRCm39)	T333S	possibly damaging	Het
Kcnq5	C	T	1: 21,473,274 (GRCm39)	A630T	probably damaging	Het
Kif2c	T	C	4: 117,028,946 (GRCm39)	M188V	probably benign	Het
Kntc1	T	C	5: 123,903,086 (GRCm39)	V321A	possibly damaging	Het
Krtap4-8	A	T	11: 99,671,271 (GRCm39)		probably benign	Het
Lcor	G	C	19: 41,574,334 (GRCm39)	A1030P	probably benign	Het
Lgals3bp	A	C	11: 118,289,295 (GRCm39)	L52R	probably damaging	Het
Lipk	C	A	19: 33,999,099 (GRCm39)	H126Q	probably damaging	Het
Lpgat1	T	C	1: 191,495,779 (GRCm39)	Y323H	probably damaging	Het
Lrp2	T	G	2: 69,311,517 (GRCm39)	N2654H	probably damaging	Het
Lsm14b	C	T	2: 179,669,774 (GRCm39)	Q6*	probably null	Het
Lysmd3	C	T	13: 81,817,584 (GRCm39)	A187V	possibly damaging	Het
Map2k5	A	G	9: 63,201,001 (GRCm39)	S211P	probably damaging	Het
Mlph	A	T	1: 90,869,419 (GRCm39)	I474F	probably damaging	Het
Mpped2	T	C	2: 106,614,091 (GRCm39)	S142P	probably damaging	Het
Nemf	A	C	12: 69,371,062 (GRCm39)	M678R	probably benign	Het
Nfe2l1	A	T	11: 96,718,515 (GRCm39)	Y7N	probably damaging	Het
Nfkbie	T	G	17: 45,867,232 (GRCm39)	D122E	probably benign	Het
Noc3l	C	A	19: 38,778,066 (GRCm39)	A783S	probably benign	Het
Nol8	T	C	13: 49,816,229 (GRCm39)	V761A	probably damaging	Het
Nvl	A	G	1: 180,929,152 (GRCm39)	L743P	probably damaging	Het
Or1j1	T	A	2: 36,702,484 (GRCm39)	I207F	probably benign	Het
Plcb1	A	G	2: 135,093,667 (GRCm39)	K160R	possibly damaging	Het
Plekhg3	G	T	12: 76,625,096 (GRCm39)	G1313C	possibly damaging	Het
Plekhh1	GTCAAA	G	12: 79,122,194 (GRCm39)		probably null	Het
Popdc3	G	A	10: 45,191,002 (GRCm39)	V38I	probably benign	Het
Prdx3	A	T	19: 60,858,551 (GRCm39)	V114D	possibly damaging	Het
Prkdc	T	A	16: 15,485,579 (GRCm39)	S469T	probably benign	Het
Rbm22	G	A	18: 60,697,463 (GRCm39)	R56H	probably damaging	Het
Reln	A	T	5: 22,491,894 (GRCm39)	F113I	possibly damaging	Het
Rims1	A	G	1: 22,497,731 (GRCm39)	Y808H	probably damaging	Het
Rsbn1	C	A	3: 103,836,336 (GRCm39)	T458N	possibly damaging	Het
Serpina3b	A	G	12: 104,096,889 (GRCm39)	S57G	possibly damaging	Het
Skor2	G	T	18: 76,948,878 (GRCm39)		probably null	Het
Slc22a4	A	T	11: 53,879,719 (GRCm39)	Y447N	probably damaging	Het
Slco1a7	C	A	6: 141,668,948 (GRCm39)	A495S	probably damaging	Het
Stx19	G	T	16: 62,642,682 (GRCm39)	R166L	probably damaging	Het
Svep1	T	C	4: 58,205,869 (GRCm39)	T170A	possibly damaging	Het
Sycp2	T	G	2: 178,016,225 (GRCm39)	S746R	probably benign	Het
Tchh	G	T	3: 93,355,189 (GRCm39)	R1543L	unknown	Het
Tjp2	T	C	19: 24,078,169 (GRCm39)	D908G	probably damaging	Het
Ttc8	C	A	12: 98,946,068 (GRCm39)	A452E	possibly damaging	Het
Unc5a	T	A	13: 55,151,696 (GRCm39)	W709R	probably null	Het
Unc80	T	A	1: 66,549,951 (GRCm39)	S736R	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,788 (GRCm39)	H387Q	probably benign	Het
Vmn2r39	C	T	7: 9,026,469 (GRCm39)		probably null	Het
Vmn2r88	T	A	14: 51,650,702 (GRCm39)	D138E	probably benign	Het
Vwce	T	C	19: 10,625,831 (GRCm39)	F448L	possibly damaging	Het
Wdr75	C	T	1: 45,861,645 (GRCm39)	S695F	probably benign	Het
Zfand4	T	C	6: 116,265,122 (GRCm39)		probably null	Het
Zfp511	T	A	7: 139,617,424 (GRCm39)		probably null	Het
Zfyve9	T	C	4: 108,501,565 (GRCm39)	K584E	possibly damaging	Het

Other mutations in Ece1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Ece1	APN	4	137,665,969 (GRCm39)	missense	probably damaging	1.00
IGL01538:Ece1	APN	4	137,675,855 (GRCm39)	missense	probably benign
IGL01588:Ece1	APN	4	137,684,517 (GRCm39)	splice site	probably benign
IGL01678:Ece1	APN	4	137,690,044 (GRCm39)	missense	probably damaging	1.00
IGL02619:Ece1	APN	4	137,666,044 (GRCm39)	missense	probably benign	0.08
IGL02936:Ece1	APN	4	137,673,612 (GRCm39)	missense	probably benign	0.01
IGL02956:Ece1	APN	4	137,690,149 (GRCm39)	missense	probably damaging	0.99
IGL03332:Ece1	APN	4	137,673,666 (GRCm39)	missense	probably damaging	0.99
R0063:Ece1	UTSW	4	137,675,892 (GRCm39)	missense	probably benign	0.14
R0240:Ece1	UTSW	4	137,676,746 (GRCm39)	splice site	probably benign
R1004:Ece1	UTSW	4	137,653,550 (GRCm39)	missense	probably benign	0.04
R1515:Ece1	UTSW	4	137,678,819 (GRCm39)	missense	probably benign	0.00
R1541:Ece1	UTSW	4	137,675,971 (GRCm39)	splice site	probably null
R1796:Ece1	UTSW	4	137,685,312 (GRCm39)	missense	probably damaging	1.00
R1834:Ece1	UTSW	4	137,685,439 (GRCm39)	missense	probably damaging	0.99
R1834:Ece1	UTSW	4	137,685,312 (GRCm39)	missense	probably damaging	1.00
R1836:Ece1	UTSW	4	137,685,312 (GRCm39)	missense	probably damaging	1.00
R1930:Ece1	UTSW	4	137,666,074 (GRCm39)	missense	probably benign	0.01
R1931:Ece1	UTSW	4	137,666,074 (GRCm39)	missense	probably benign	0.01
R2065:Ece1	UTSW	4	137,685,393 (GRCm39)	missense	probably benign	0.04
R2281:Ece1	UTSW	4	137,673,673 (GRCm39)	missense	possibly damaging	0.93
R3118:Ece1	UTSW	4	137,675,855 (GRCm39)	missense	probably benign
R4773:Ece1	UTSW	4	137,672,464 (GRCm39)	missense	probably benign	0.00
R5794:Ece1	UTSW	4	137,683,844 (GRCm39)	missense	probably damaging	0.99
R5969:Ece1	UTSW	4	137,689,051 (GRCm39)	critical splice donor site	probably null
R6056:Ece1	UTSW	4	137,688,958 (GRCm39)	missense	probably damaging	1.00
R6332:Ece1	UTSW	4	137,685,319 (GRCm39)	missense	probably damaging	1.00
R6648:Ece1	UTSW	4	137,648,470 (GRCm39)	missense	probably benign	0.00
R7285:Ece1	UTSW	4	137,641,074 (GRCm39)	splice site	probably null
R7387:Ece1	UTSW	4	137,666,095 (GRCm39)	missense	possibly damaging	0.69
R8103:Ece1	UTSW	4	137,641,133 (GRCm39)	missense	probably benign
R8294:Ece1	UTSW	4	137,675,931 (GRCm39)	missense	possibly damaging	0.60
R8308:Ece1	UTSW	4	137,664,075 (GRCm39)	missense	probably damaging	0.99
R8806:Ece1	UTSW	4	137,672,452 (GRCm39)	missense	probably damaging	1.00
R9578:Ece1	UTSW	4	137,641,133 (GRCm39)	missense	probably benign
X0063:Ece1	UTSW	4	137,653,686 (GRCm39)	missense	probably damaging	0.97
Z1176:Ece1	UTSW	4	137,648,338 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- CCAGAGGACACAGTTGAGTG -3'
(R):5'- TACATGGAATCCTCATATTCGTGG -3'

Sequencing Primer
(F):5'- GAGTGTAACTAACTCTGTCCAGC -3'
(R):5'- GCCAGTTCTATCTGAATGC -3'

Posted On

2015-10-21