Mutagenetix > Incidental Mutation

Incidental Mutation 'R4773:Ece1'

367657

Institutional Source

Beutler Lab

Gene Symbol

Ece1

Ensembl Gene

ENSMUSG00000057530

Gene Name

endothelin converting enzyme 1

Synonyms

MMRRC Submission

042411-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.800) question?

Stock #

R4773 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137589548-137692540 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137672464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 369 (D369G)

Ref Sequence

ENSEMBL: ENSMUSP00000099576 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000102518
AA Change: D369G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099576
Gene: ENSMUSG00000057530
AA Change: D369G

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

0.2009

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (89/89)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230009I02Rik	A	G	11: 50,982,089 (GRCm39)		noncoding transcript	Het
Actl7b	T	C	4: 56,740,972 (GRCm39)	I129V	probably benign	Het
Adipor2	A	G	6: 119,336,047 (GRCm39)	L225P	probably benign	Het
Arhgap25	A	G	6: 87,473,053 (GRCm39)	F35L	probably benign	Het
Asah2	A	T	19: 32,030,258 (GRCm39)	M138K	probably damaging	Het
Asxl1	T	A	2: 153,243,905 (GRCm39)	M1486K	probably damaging	Het
B4galt4	T	A	16: 38,572,658 (GRCm39)	S114R	probably benign	Het
Brpf3	T	G	17: 29,040,233 (GRCm39)	S885A	probably benign	Het
Cacna1g	G	T	11: 94,302,298 (GRCm39)	H1944N	possibly damaging	Het
Cby2	T	A	14: 75,820,546 (GRCm39)	Y393F	probably damaging	Het
Ccdc110	G	A	8: 46,396,245 (GRCm39)	C712Y	probably damaging	Het
Ccdc175	A	T	12: 72,182,822 (GRCm39)	I399N	probably damaging	Het
Cct8l1	A	T	5: 25,722,754 (GRCm39)	T490S	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Copa	A	G	1: 171,932,787 (GRCm39)	N371D	probably damaging	Het
Cpeb1	A	T	7: 81,005,695 (GRCm39)	H381Q	probably benign	Het
Cyp2d40	T	A	15: 82,645,763 (GRCm39)	I81F	possibly damaging	Het
Dscc1	A	T	15: 54,943,654 (GRCm39)	D405E	probably benign	Het
Exd2	T	C	12: 80,522,592 (GRCm39)	V17A	possibly damaging	Het
Fam111a	A	T	19: 12,565,772 (GRCm39)	N507I	possibly damaging	Het
Flnc	T	C	6: 29,445,038 (GRCm39)	V719A	possibly damaging	Het
Fscb	C	T	12: 64,520,464 (GRCm39)	G334D	probably damaging	Het
Glud1	T	C	14: 34,043,782 (GRCm39)		probably null	Het
Gm8126	T	A	14: 43,119,072 (GRCm39)	Y180*	probably null	Het
Grip2	G	A	6: 91,759,413 (GRCm39)	P347L	possibly damaging	Het
H1f3	T	C	13: 23,739,576 (GRCm39)	S105P	probably damaging	Het
H60b	C	T	10: 22,164,644 (GRCm39)		probably benign	Het
Iqca1l	A	G	5: 24,755,596 (GRCm39)		probably null	Het
Itga6	T	C	2: 71,652,788 (GRCm39)	V217A	probably benign	Het
Kndc1	G	A	7: 139,503,946 (GRCm39)	W1083*	probably null	Het
Limch1	A	T	5: 67,184,850 (GRCm39)	D613V	probably damaging	Het
Lpl	T	A	8: 69,349,403 (GRCm39)	C310S	probably damaging	Het
Marchf1	T	A	8: 66,839,876 (GRCm39)	C220S	probably benign	Het
Mbd5	A	C	2: 49,164,623 (GRCm39)	H308P	probably damaging	Het
Med13	T	C	11: 86,167,746 (GRCm39)	D2003G	probably damaging	Het
Mettl16	T	A	11: 74,708,127 (GRCm39)	V442D	possibly damaging	Het
Mstn	A	T	1: 53,101,267 (GRCm39)	T115S	probably benign	Het
Mtcl2	G	T	2: 156,872,489 (GRCm39)	Q953K	probably benign	Het
Nfil3	A	G	13: 53,122,050 (GRCm39)	S285P	probably damaging	Het
Odad4	C	A	11: 100,440,742 (GRCm39)	N74K	probably benign	Het
Or10j3	A	C	1: 173,031,796 (GRCm39)	Y291S	probably damaging	Het
Or51a24	A	G	7: 103,733,502 (GRCm39)	S262P	probably damaging	Het
Otof	A	G	5: 30,552,026 (GRCm39)	V321A	probably benign	Het
Pcdha8	G	T	18: 37,127,626 (GRCm39)	A703S	probably damaging	Het
Pcdhb18	A	G	18: 37,623,507 (GRCm39)	Y279C	probably damaging	Het
Pdgfa	T	C	5: 138,979,051 (GRCm39)	D51G	probably benign	Het
Pdzd8	A	G	19: 59,289,292 (GRCm39)	Y703H	probably damaging	Het
Pecr	G	T	1: 72,306,594 (GRCm39)	P229Q	probably damaging	Het
Phkg1	G	T	5: 129,902,114 (GRCm39)		probably null	Het
Plxnb2	A	T	15: 89,051,150 (GRCm39)	H356Q	probably benign	Het
Polr1b	T	C	2: 128,947,248 (GRCm39)	I191T	probably benign	Het
Ppp4r3a	A	G	12: 101,049,026 (GRCm39)	L35P	possibly damaging	Het
Rasa2	C	T	9: 96,426,470 (GRCm39)	G792D	probably benign	Het
Rps11-ps4	T	C	12: 51,344,406 (GRCm39)		noncoding transcript	Het
Sema3g	A	G	14: 30,942,666 (GRCm39)	D89G	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slfn8	A	G	11: 82,908,219 (GRCm39)	V108A	probably damaging	Het
Smg9	T	A	7: 24,107,019 (GRCm39)	M221K	possibly damaging	Het
Sos1	A	G	17: 80,705,660 (GRCm39)	S1304P	probably damaging	Het
Sqle	C	A	15: 59,189,688 (GRCm39)	A110E	possibly damaging	Het
Stab2	G	A	10: 86,743,235 (GRCm39)	Q1154*	probably null	Het
Taf4b	A	G	18: 14,937,577 (GRCm39)	T217A	probably benign	Het
Tex15	T	C	8: 34,072,760 (GRCm39)	V2769A	probably benign	Het
Tmem156	A	T	5: 65,237,502 (GRCm39)	C53S	probably damaging	Het
Tmtc3	T	A	10: 100,293,001 (GRCm39)	K452N	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tph1	T	C	7: 46,306,376 (GRCm39)	E195G	probably damaging	Het
Trpc6	T	A	9: 8,609,852 (GRCm39)	Y107N	possibly damaging	Het
Tsga10	G	A	1: 37,874,606 (GRCm39)	T93I	probably damaging	Het
Ttn	T	A	2: 76,571,778 (GRCm39)	N26372Y	probably damaging	Het
Tubd1	T	C	11: 86,446,128 (GRCm39)	L256P	possibly damaging	Het
Txnrd2	C	G	16: 18,259,569 (GRCm39)	A126G	probably benign	Het
Vmn1r210	T	G	13: 23,011,374 (GRCm39)	K304T	probably benign	Het
Vps25	T	C	11: 101,149,655 (GRCm39)	S160P	probably benign	Het
Vrk3	T	A	7: 44,424,900 (GRCm39)	D438E	probably benign	Het
Vwa5b1	A	G	4: 138,309,066 (GRCm39)	L708P	probably benign	Het
Washc3	C	T	10: 88,055,124 (GRCm39)	Q105*	probably null	Het
Wdr83os	T	A	8: 85,807,410 (GRCm39)		probably benign	Het
Wwc1	T	C	11: 35,758,123 (GRCm39)	H741R	probably benign	Het
Zan	T	C	5: 137,434,575 (GRCm39)		probably benign	Het
Zdhhc4	A	T	5: 143,311,931 (GRCm39)	L14I	possibly damaging	Het
Zfp568	T	A	7: 29,697,195 (GRCm39)	D38E	probably 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
R4720:Ece1	UTSW	4	137,684,486 (GRCm39)	missense	probably damaging	1.00
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'- AAAGCCTTCTGAGGAATGGC -3'
(R):5'- GCCAGGACTTCCTTCTCGTAAC -3'

Sequencing Primer
(F):5'- CTTCTGAGGAATGGCCGGAGAC -3'
(R):5'- ACAGCCTCTCCGTATGGTG -3'

Posted On

2015-12-29