Mutagenetix > Incidental Mutation

Incidental Mutation 'R8103:Ece1'

630563

Institutional Source

Beutler Lab

Gene Symbol

Ece1

Ensembl Gene

ENSMUSG00000057530

Gene Name

endothelin converting enzyme 1

Synonyms

MMRRC Submission

067534-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.800) question?

Stock #

R8103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137589548-137692540 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137641133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 19 (S19P)

Ref Sequence

ENSEMBL: ENSMUSP00000099576 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000102518
AA Change: S19P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099576
Gene: ENSMUSG00000057530
AA Change: S19P

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: ENSMUST00000130407
AA Change: S19P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000151110
AA Change: S35P

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114671
Gene: ENSMUSG00000057530
AA Change: S35P

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: 99.8%
3x: 99.6%
10x: 98.7%
20x: 95.4%

Validation Efficiency

100% (83/83)

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
2610008E11Rik	T	C	10: 78,903,668 (GRCm39)	D216G	probably benign	Het
Abcg5	A	T	17: 84,965,956 (GRCm39)	I640K	possibly damaging	Het
Acadvl	T	C	11: 69,905,168 (GRCm39)	K128R	probably benign	Het
Angptl7	T	A	4: 148,581,018 (GRCm39)	N259I	probably damaging	Het
Ankrd35	A	G	3: 96,586,997 (GRCm39)	K104R	possibly damaging	Het
Antxr1	T	C	6: 87,165,198 (GRCm39)	N413S	probably damaging	Het
Arhgap26	A	G	18: 39,504,177 (GRCm39)	T376A		Het
Atf6b	T	G	17: 34,872,949 (GRCm39)	S622A	probably damaging	Het
Atp5pd	T	A	11: 115,306,851 (GRCm39)	Y115F	possibly damaging	Het
Axin2	T	C	11: 108,822,369 (GRCm39)	L307P	probably damaging	Het
B4galnt4	C	T	7: 140,644,564 (GRCm39)	T153M	possibly damaging	Het
Brd8	A	G	18: 34,740,231 (GRCm39)	V604A	probably benign	Het
Ccser2	T	C	14: 36,618,240 (GRCm39)	Y765C	probably damaging	Het
Cdh26	A	G	2: 178,110,006 (GRCm39)	D433G	probably damaging	Het
Cep85l	T	G	10: 53,175,420 (GRCm39)		probably null	Het
Ciao3	A	G	17: 25,996,395 (GRCm39)	T135A	probably benign	Het
Col23a1	T	A	11: 51,461,014 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,804,452 (GRCm39)	D2261G	unknown	Het
Comp	C	A	8: 70,833,936 (GRCm39)	N650K	probably damaging	Het
Copb1	A	G	7: 113,834,202 (GRCm39)	M476T	possibly damaging	Het
Dapk1	T	A	13: 60,897,009 (GRCm39)	S743T	probably damaging	Het
Ddx39a	A	G	8: 84,451,105 (GRCm39)		probably null	Het
Dgkb	A	G	12: 38,186,580 (GRCm39)	H243R	probably damaging	Het
Dsg1c	T	G	18: 20,416,171 (GRCm39)	Y691D	probably damaging	Het
Duox2	C	T	2: 122,117,535 (GRCm39)	S933N	probably benign	Het
Edem1	G	A	6: 108,829,524 (GRCm39)	E548K	probably damaging	Het
Eif4a3l2	C	T	6: 116,528,468 (GRCm39)	T115I	probably damaging	Het
Fpr-rs6	A	G	17: 20,402,839 (GRCm39)	V174A	possibly damaging	Het
Fyco1	A	T	9: 123,658,453 (GRCm39)	N574K	probably benign	Het
Glb1l2	T	A	9: 26,676,980 (GRCm39)	M551L	probably benign	Het
Gm7694	G	T	1: 170,130,284 (GRCm39)	P38Q	probably damaging	Het
Grip1	A	G	10: 119,814,440 (GRCm39)	T324A	probably benign	Het
Htr3b	A	G	9: 48,857,849 (GRCm39)	V131A	possibly damaging	Het
Igfbp1	T	C	11: 7,148,106 (GRCm39)	C50R	probably damaging	Het
Il5ra	A	G	6: 106,692,611 (GRCm39)	I378T	possibly damaging	Het
Ints11	T	C	4: 155,972,687 (GRCm39)	L504P	possibly damaging	Het
Iqca1	A	T	1: 89,987,330 (GRCm39)	I74N		Het
Kbtbd12	C	T	6: 88,595,663 (GRCm39)	A56T	probably damaging	Het
Kcnq5	T	C	1: 21,549,620 (GRCm39)	N369S	possibly damaging	Het
Kmt5b	A	G	19: 3,865,381 (GRCm39)	D815G	probably benign	Het
Lnpk	T	C	2: 74,352,599 (GRCm39)	Q361R	probably benign	Het
Mep1b	T	C	18: 21,222,442 (GRCm39)	I277T	possibly damaging	Het
Naip6	G	A	13: 100,437,851 (GRCm39)	T385I	probably benign	Het
Npepl1	A	T	2: 173,953,002 (GRCm39)	I95F	probably benign	Het
Nxpe4	T	C	9: 48,304,020 (GRCm39)	F36L	probably benign	Het
Optn	C	A	2: 5,045,013 (GRCm39)	C243F	probably damaging	Het
Or10al7	A	T	17: 38,365,903 (GRCm39)	C185S	probably damaging	Het
Or1e33	C	T	11: 73,738,735 (GRCm39)	C72Y	probably damaging	Het
Paqr7	T	C	4: 134,234,821 (GRCm39)	V226A	probably benign	Het
Pcdh12	T	A	18: 38,415,212 (GRCm39)	I638F	probably damaging	Het
Pfas	T	C	11: 68,883,119 (GRCm39)	T722A	probably damaging	Het
Pkhd1	T	A	1: 20,270,981 (GRCm39)	I3191F	probably damaging	Het
Plxnc1	T	A	10: 94,706,944 (GRCm39)	H531L	probably benign	Het
Pom121l2	A	G	13: 22,166,544 (GRCm39)	T272A	probably benign	Het
Pparg	T	C	6: 115,450,102 (GRCm39)	V367A	possibly damaging	Het
Psen2	A	T	1: 180,068,356 (GRCm39)	M99K	probably damaging	Het
Ranbp10	T	C	8: 106,499,179 (GRCm39)	T536A	probably benign	Het
Rbfox2	G	T	15: 76,983,654 (GRCm39)	P284T	probably damaging	Het
Rbmyf9	C	T	Y: 3,776,675 (GRCm39)	T104I	possibly damaging	Het
Rere	G	A	4: 150,701,796 (GRCm39)	R25H	probably damaging	Het
Rhpn1	T	A	15: 75,581,115 (GRCm39)	L119Q	probably null	Het
Rlig1	C	A	10: 100,413,110 (GRCm39)	V178F	probably benign	Het
Rreb1	A	G	13: 38,125,677 (GRCm39)	T1328A	probably benign	Het
Septin11	A	T	5: 93,309,007 (GRCm39)		probably null	Het
Skida1	T	A	2: 18,052,549 (GRCm39)	Q201L	probably benign	Het
Sptan1	T	A	2: 29,910,055 (GRCm39)	I1805N	probably damaging	Het
Stard13	T	A	5: 150,970,435 (GRCm39)	Q853L	possibly damaging	Het
Susd1	T	A	4: 59,365,916 (GRCm39)		probably null	Het
Szt2	T	A	4: 118,245,061 (GRCm39)	Q1158H	possibly damaging	Het
Tbcc	A	C	17: 47,202,046 (GRCm39)	D144A	probably benign	Het
Tsn	A	G	1: 118,232,437 (GRCm39)	I146T	probably benign	Het
Umad1	A	T	6: 8,427,121 (GRCm39)	T99S	probably damaging	Het
Vcan	T	A	13: 89,805,777 (GRCm39)	E3261V	probably damaging	Het
Vcan	C	A	13: 89,851,439 (GRCm39)	E1174*	probably null	Het
Vmn2r100	C	A	17: 19,751,415 (GRCm39)		probably null	Het
Vmn2r65	A	G	7: 84,595,919 (GRCm39)	I255T	probably damaging	Het
Vps35l	T	C	7: 118,342,855 (GRCm39)	S47P	probably benign	Het
Wdr70	A	G	15: 8,006,612 (GRCm39)	L313P	possibly damaging	Het
Ythdf2	C	A	4: 131,932,089 (GRCm39)	R357L	probably damaging	Het
Zfp523	T	C	17: 28,420,267 (GRCm39)	C262R	probably damaging	Het
Zfp553	T	C	7: 126,835,936 (GRCm39)	V497A	probably benign	Het
Zhx1	A	G	15: 57,916,662 (GRCm39)	L528S	probably benign	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
R7387:Ece1	UTSW	4	137,666,095 (GRCm39)	missense	possibly damaging	0.69
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'- AGGCTTTGCTGACCCTTAGTC -3'
(R):5'- TGGAAACCAGCCTCAGAGTACC -3'

Sequencing Primer
(F):5'- GGGACCTCATTGTAAAAGAAACCTC -3'
(R):5'- TCAGAGTACCGCTGCACAG -3'

Posted On

2020-06-30