Mutagenetix > Incidental Mutation

Incidental Mutation 'R1836:Ece1'

205270

Institutional Source

Beutler Lab

Gene Symbol

Ece1

Ensembl Gene

ENSMUSG00000057530

Gene Name

endothelin converting enzyme 1

Synonyms

MMRRC Submission

039863-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.725) question?

Stock #

R1836 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

137862237-137965229 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 137958001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 601 (R601W)

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: R601W

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

SMART Domains

Protein: ENSMUSP00000099576
Gene: ENSMUSG00000057530
AA Change: R601W

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: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029P11Rik	T	C	15: 81,980,867	V103A	probably damaging	Het
2210408I21Rik	A	G	13: 77,323,374	E966G	probably benign	Het
7420426K07Rik	C	A	9: 98,903,482	R67S	probably benign	Het
9330159F19Rik	T	C	10: 29,221,799	V64A	probably damaging	Het
Abcb5	G	T	12: 118,867,961	Q1219K	possibly damaging	Het
Acox2	A	T	14: 8,248,059	C408S	possibly damaging	Het
Acsf3	T	A	8: 122,780,183	Y72N	probably damaging	Het
Acss2	T	A	2: 155,558,630	Y530N	probably damaging	Het
Adam28	T	C	14: 68,649,421	E48G	possibly damaging	Het
Adgrv1	A	C	13: 81,504,113	M2957R	probably benign	Het
Adi1	C	A	12: 28,679,563	D138E	probably benign	Het
Alk	A	C	17: 71,891,037	L1228R	probably damaging	Het
Alms1	T	A	6: 85,678,503	S3344T	possibly damaging	Het
Aox2	G	A	1: 58,308,991	A623T	probably benign	Het
Arhgef2	C	T	3: 88,639,459	T545I	probably damaging	Het
Atp8a2	T	A	14: 60,006,366	N630I	possibly damaging	Het
Bcl9	G	T	3: 97,205,870	Q1090K	probably damaging	Het
Bdp1	A	G	13: 100,035,145	S2152P	probably benign	Het
Birc6	T	A	17: 74,614,390	S2155T	probably benign	Het
Camk2b	T	C	11: 5,972,384	E488G	probably damaging	Het
Capn9	T	A	8: 124,605,565		probably null	Het
Cd209f	A	G	8: 4,104,491	S119P	probably damaging	Het
Cep78	T	C	19: 15,969,169	E433G	probably damaging	Het
Chid1	G	T	7: 141,526,496		probably null	Het
Cldnd2	T	C	7: 43,442,925	S129P	possibly damaging	Het
Cobll1	A	T	2: 65,126,236	F289Y	probably damaging	Het
Creb1	C	T	1: 64,550,950	Q32*	probably null	Het
Creb3l4	G	T	3: 90,238,903	S182Y	probably benign	Het
Dgcr2	A	T	16: 17,849,720	C292S	probably damaging	Het
Dnah8	T	C	17: 30,874,927	V4665A	possibly damaging	Het
Dnah9	A	T	11: 66,118,841	M740K	probably benign	Het
Dnmt1	G	A	9: 20,918,246	T687I	probably damaging	Het
Echdc2	C	A	4: 108,165,535	R3S	probably damaging	Het
Ep400	A	T	5: 110,705,054	L1275Q	unknown	Het
Epha6	A	T	16: 60,205,745	W445R	probably damaging	Het
Ercc5	T	A	1: 44,180,875	S1102R	probably benign	Het
Fam228a	T	G	12: 4,715,620	T264P	probably damaging	Het
Fzd6	T	A	15: 39,033,920	I488N	probably damaging	Het
Gabrg3	T	G	7: 56,729,641	N338H	probably damaging	Het
Gde1	A	G	7: 118,695,134	F39L	possibly damaging	Het
Gjb3	G	A	4: 127,326,431	R103W	probably damaging	Het
Gm4781	T	A	10: 100,396,720		noncoding transcript	Het
Gm4846	T	A	1: 166,483,923	T456S	probably benign	Het
Gm5415	T	G	1: 32,545,677	D384A	probably damaging	Het
Gpx5	A	G	13: 21,287,454	I193T	probably benign	Het
Herc2	A	T	7: 56,155,105	K2294*	probably null	Het
Hist1h3b	T	A	13: 23,752,732	V118D	probably damaging	Het
Iqgap3	T	A	3: 88,108,368	V19D	probably damaging	Het
Itga5	T	C	15: 103,346,014	I1006V	probably damaging	Het
Lamb1	C	T	12: 31,301,094	T781I	probably benign	Het
Lias	A	G	5: 65,392,343	T57A	probably benign	Het
Lin37	C	A	7: 30,556,943	R108L	probably damaging	Het
Lrrd1	A	T	5: 3,865,709	T769S	probably benign	Het
Mamstr	T	C	7: 45,644,963	W414R	probably damaging	Het
Mtmr11	T	G	3: 96,164,786	S233R	probably damaging	Het
Myh1	A	T	11: 67,204,822	I266F	probably damaging	Het
Myt1	C	A	2: 181,797,275	Q197K	probably benign	Het
Naip5	G	T	13: 100,219,687	T1140K	probably benign	Het
Ncf2	G	A	1: 152,808,071	V14M	probably damaging	Het
Nhsl1	G	T	10: 18,524,905	R626S	possibly damaging	Het
Nol12	T	A	15: 78,937,889	V108E	probably damaging	Het
Nr1i2	G	T	16: 38,249,282	P420Q	probably damaging	Het
Nup155	A	G	15: 8,154,980	I1286M	possibly damaging	Het
Ocrl	T	A	X: 47,962,116	I74N	probably damaging	Het
Olfr1257	A	C	2: 89,881,285	H153P	probably damaging	Het
Olfr64	A	G	7: 103,893,385	S117P	probably damaging	Het
Olfr993	A	G	2: 85,414,405	V158A	probably benign	Het
Pard3b	C	T	1: 62,637,604	S999L	probably benign	Het
Pax9	A	G	12: 56,700,054	E225G	probably benign	Het
Pdcd4	T	G	19: 53,926,219	L335R	probably damaging	Het
Pdgfra	T	A	5: 75,183,014	M732K	possibly damaging	Het
Pkhd1	G	T	1: 20,117,069	Q3672K	probably benign	Het
Pold2	A	G	11: 5,873,454	L325P	possibly damaging	Het
Pom121l2	A	T	13: 21,983,784	T742S	probably benign	Het
Ppfia1	C	T	7: 144,519,631	E208K	probably benign	Het
Prex2	A	T	1: 11,136,780	R521W	probably damaging	Het
Rhpn2	T	C	7: 35,372,388	L226P	probably benign	Het
Rps12	C	A	10: 23,785,629	D95Y	probably damaging	Het
Sardh	T	A	2: 27,215,182	D643V	possibly damaging	Het
Sars	T	C	3: 108,435,944	D77G	probably benign	Het
Scin	C	A	12: 40,124,698	V129F	probably damaging	Het
Sftpa1	T	A	14: 41,132,846	M66K	possibly damaging	Het
Sgo1	T	C	17: 53,687,771	K28E	probably damaging	Het
Sim2	G	T	16: 94,123,577		probably null	Het
Srp54b	T	A	12: 55,250,160		probably null	Het
Stard7	T	C	2: 127,295,560	V310A	probably benign	Het
Tasp1	T	C	2: 139,951,557	D233G	probably damaging	Het
Tdrd6	G	T	17: 43,625,589	L1523M	probably benign	Het
Tle3	A	G	9: 61,414,023	D639G	probably damaging	Het
Tmem128	A	G	5: 38,260,406	D2G	probably damaging	Het
Tmem163	A	G	1: 127,677,509	S41P	probably benign	Het
Ttn	C	T	2: 76,729,161	S29632N	probably damaging	Het
Tuba4a	A	G	1: 75,216,110	S287P	probably benign	Het
Ubn1	G	C	16: 5,077,391	G767A	probably benign	Het
Ugdh	A	T	5: 65,420,291	C288*	probably null	Het
Upf2	T	A	2: 6,050,324		probably null	Het
Vmn1r2	T	C	4: 3,172,836	S252P	probably damaging	Het
Vmn1r28	A	C	6: 58,265,252	T27P	probably damaging	Het
Vmn1r77	T	C	7: 12,041,411	I38T	probably benign	Het
Vmn2r51	C	A	7: 10,098,163	E499*	probably null	Het
Vmn2r51	G	T	7: 10,098,164	Y498*	probably null	Het
Vmn2r53	A	T	7: 12,600,885	W283R	probably damaging	Het
Vpreb1	T	A	16: 16,869,069	T15S	probably benign	Het
Vps13b	T	C	15: 35,910,232	S3381P	probably damaging	Het
Wnt2	A	T	6: 18,023,235	D138E	probably damaging	Het
Zdhhc22	A	G	12: 86,983,430	V248A	probably benign	Het
Zfp30	T	A	7: 29,793,380	I434N	probably damaging	Het
Zfp316	A	G	5: 143,253,423	L947P	probably damaging	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
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
R8806:Ece1	UTSW	4	137945141	missense	probably damaging	1.00
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'- CAGGGCCCAGTATTAAAAGCC -3'
(R):5'- CGTTGTCGGCAATGTTCTC -3'

Sequencing Primer
(F):5'- ATGCCTCAGCTGTTAAGAGC -3'
(R):5'- AATGTTCTCCCCGAGGGTG -3'

Posted On

2014-06-23