Mutagenetix > Incidental Mutation

Incidental Mutation 'R7387:Ece1'

573162

Institutional Source

Beutler Lab

Gene Symbol

Ece1

Ensembl Gene

ENSMUSG00000057530

Gene Name

endothelin converting enzyme 1

Synonyms

MMRRC Submission

045469-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.800) question?

Stock #

R7387 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137589548-137692540 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137666095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 313 (I313N)

Ref Sequence

ENSEMBL: ENSMUSP00000099576 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102518
AA Change: I313N

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099576
Gene: ENSMUSG00000057530
AA Change: I313N

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 benign
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,774 (GRCm39)	Y182H	probably damaging	Het
Abca6	A	G	11: 110,093,246 (GRCm39)	V1009A	probably benign	Het
Abcg2	A	T	6: 58,666,609 (GRCm39)	I573F	possibly damaging	Het
Adck1	A	G	12: 88,427,822 (GRCm39)	T480A	probably benign	Het
Adcy5	T	C	16: 35,092,460 (GRCm39)	I607T	probably damaging	Het
Add2	A	G	6: 86,062,997 (GRCm39)	K52E	probably damaging	Het
Arid4a	T	A	12: 71,134,270 (GRCm39)	S1191T	probably damaging	Het
Atg2a	G	T	19: 6,305,198 (GRCm39)	C1207F	possibly damaging	Het
Atg2b	T	C	12: 105,589,034 (GRCm39)	D1875G	probably damaging	Het
B3gntl1	A	G	11: 121,520,741 (GRCm39)	L224P	possibly damaging	Het
BC035947	A	G	1: 78,475,098 (GRCm39)	V478A	possibly damaging	Het
Cachd1	T	C	4: 100,634,375 (GRCm39)	V17A	unknown	Het
Cad	T	C	5: 31,219,284 (GRCm39)	Y669H	probably damaging	Het
Ccdc110	A	T	8: 46,395,233 (GRCm39)	M375L	probably benign	Het
Cdc6	C	T	11: 98,799,042 (GRCm39)		probably benign	Het
Cdhr4	T	A	9: 107,874,111 (GRCm39)	Y72*	probably null	Het
Cenpe	T	G	3: 134,952,798 (GRCm39)	M1496R	probably benign	Het
Clec4a1	T	G	6: 122,899,016 (GRCm39)	C28W	possibly damaging	Het
Cma2	A	G	14: 56,210,505 (GRCm39)	N120S	probably benign	Het
Cped1	A	T	6: 22,059,933 (GRCm39)	I200L	probably benign	Het
Cpsf1	A	T	15: 76,486,766 (GRCm39)	S257T	possibly damaging	Het
Dnah6	G	A	6: 73,189,595 (GRCm39)	Q18*	probably null	Het
Dpp10	T	C	1: 123,268,869 (GRCm39)	E720G	probably benign	Het
Dus2	G	A	8: 106,772,619 (GRCm39)	R243Q	probably damaging	Het
Dync2h1	T	C	9: 7,157,932 (GRCm39)	N769S	possibly damaging	Het
Ern1	A	T	11: 106,312,778 (GRCm39)	V201E	probably damaging	Het
Exoc3l	A	G	8: 106,021,605 (GRCm39)	L141P	probably damaging	Het
Fam168b	G	A	1: 34,858,789 (GRCm39)	T131M	probably damaging	Het
Fez1	T	C	9: 36,779,108 (GRCm39)	F262L	probably damaging	Het
H2-DMa	T	C	17: 34,357,101 (GRCm39)	Y200H	probably damaging	Het
H2-Eb1	T	A	17: 34,533,207 (GRCm39)	V143D	probably damaging	Het
Ighv1-39	G	A	12: 114,878,488 (GRCm39)	P28S	probably benign	Het
Inka1	C	T	9: 107,861,626 (GRCm39)	R230H	probably damaging	Het
Iqgap1	C	T	7: 80,370,738 (GRCm39)	V1544I	probably benign	Het
Itga10	A	T	3: 96,560,094 (GRCm39)	Q536L	probably benign	Het
Itih2	C	T	2: 10,135,319 (GRCm39)	E24K	possibly damaging	Het
Itsn2	A	T	12: 4,689,781 (GRCm39)	N618I	probably damaging	Het
Kcnd2	T	A	6: 21,216,777 (GRCm39)	S160R	probably benign	Het
Kif11	T	A	19: 37,398,204 (GRCm39)	F677I	probably damaging	Het
Ldlrad2	C	T	4: 137,301,828 (GRCm39)	C18Y	probably damaging	Het
Lrp4	T	C	2: 91,306,959 (GRCm39)	V360A	probably benign	Het
Lrrtm2	T	C	18: 35,346,025 (GRCm39)	T426A	probably damaging	Het
Mcidas	T	C	13: 113,130,622 (GRCm39)	F40L	probably benign	Het
Med27	T	A	2: 29,303,419 (GRCm39)	L123Q	possibly damaging	Het
Mettl2	T	C	11: 105,023,364 (GRCm39)	V249A	probably benign	Het
Mllt6	C	A	11: 97,565,426 (GRCm39)	A592D	probably benign	Het
Mrps5	C	T	2: 127,442,804 (GRCm39)	T291I	probably damaging	Het
Muc16	T	A	9: 18,553,016 (GRCm39)	T4426S	probably benign	Het
Myh1	A	T	11: 67,099,715 (GRCm39)	M542L	probably benign	Het
Nlrp12	G	T	7: 3,289,831 (GRCm39)	A227D	probably damaging	Het
Nlrp14	T	C	7: 106,782,314 (GRCm39)	Y504H	probably damaging	Het
Nr1i2	T	C	16: 38,086,442 (GRCm39)	S8G	probably benign	Het
Ntrk2	A	G	13: 59,133,793 (GRCm39)	K524R	probably damaging	Het
Nup210	C	T	6: 90,998,378 (GRCm39)		probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or4c100	T	A	2: 88,356,744 (GRCm39)	Y272*	probably null	Het
Or52e4	T	A	7: 104,706,297 (GRCm39)	Y281*	probably null	Het
Or5h27	A	T	16: 59,006,699 (GRCm39)	I49N	probably damaging	Het
Patl1	A	G	19: 11,911,094 (GRCm39)	I525M	probably benign	Het
Pcnx3	A	G	19: 5,723,364 (GRCm39)	L1277P	probably benign	Het
Pelp1	G	A	11: 70,287,425 (GRCm39)	T461I	probably damaging	Het
Phf20	T	C	2: 156,136,160 (GRCm39)	C660R	probably damaging	Het
Pkd1l1	T	A	11: 8,851,203 (GRCm39)	Y1193F		Het
Pknox2	G	T	9: 36,868,364 (GRCm39)		probably benign	Het
Pml	T	C	9: 58,137,177 (GRCm39)	T541A	probably benign	Het
Prss35	C	T	9: 86,637,974 (GRCm39)	T248I	probably damaging	Het
Rccd1	T	A	7: 79,970,350 (GRCm39)	N89I	probably benign	Het
Rcor3	T	C	1: 191,821,824 (GRCm39)		probably benign	Het
Rreb1	A	G	13: 38,131,040 (GRCm39)	E16G	unknown	Het
Scgb2b12	T	A	7: 32,026,060 (GRCm39)	H44L	probably benign	Het
Sec23ip	C	T	7: 128,346,727 (GRCm39)		probably benign	Het
Sgsm1	A	C	5: 113,411,566 (GRCm39)	F720C	probably damaging	Het
Slc25a51	A	T	4: 45,399,841 (GRCm39)	F116L	possibly damaging	Het
Spats2l	T	C	1: 57,941,293 (GRCm39)	V253A	probably damaging	Het
Spopl	A	T	2: 23,427,521 (GRCm39)	F204I	probably benign	Het
Sqle	G	A	15: 59,202,603 (GRCm39)	R519Q	probably benign	Het
Stil	T	G	4: 114,881,233 (GRCm39)	H592Q	probably benign	Het
Strip1	T	A	3: 107,533,046 (GRCm39)	S201C	probably damaging	Het
Tcp11l1	C	A	2: 104,530,275 (GRCm39)	A70S	possibly damaging	Het
Tmem163	T	C	1: 127,447,180 (GRCm39)		probably null	Het
Tmem184c	A	T	8: 78,324,559 (GRCm39)	Y310*	probably null	Het
Tmem30c	T	C	16: 57,090,386 (GRCm39)	N274D	probably benign	Het
Trim30c	T	A	7: 104,039,397 (GRCm39)	I133F	probably damaging	Het
Vars1	C	T	17: 35,223,768 (GRCm39)	Q228*	probably null	Het
Zdbf2	G	A	1: 63,343,198 (GRCm39)	V526I	possibly damaging	Het
Zfp819	T	G	7: 43,262,065 (GRCm39)		probably null	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
R4720:Ece1	UTSW	4	137,684,486 (GRCm39)	missense	probably damaging	1.00
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
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'- AGAGCCTTTGACTGTGTGCG -3'
(R):5'- GAAACGTCTCAGAAAGCCGC -3'

Sequencing Primer
(F):5'- ACTGACGTGCTGGTCCCTAC -3'
(R):5'- TCAGAAAGCCGCCTCGCTTAG -3'

Posted On

2019-09-13