Mutagenetix > Incidental Mutation

Incidental Mutation 'R2065:Ece1'

229066

Institutional Source

Beutler Lab

Gene Symbol

Ece1

Ensembl Gene

ENSMUSG00000057530

Gene Name

endothelin converting enzyme 1

Synonyms

MMRRC Submission

040070-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.725) question?

Stock #

R2065 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137862237-137965229 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 137958082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 628 (M628L)

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: M628L

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099576
Gene: ENSMUSG00000057530
AA Change: M628L

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: 98.6%
10x: 97.3%
20x: 95.1%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 67,920,702	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,689,322		probably benign	Het
Adh6a	T	A	3: 138,325,237	D162E	probably benign	Het
Afap1l1	A	T	18: 61,739,122		probably null	Het
AI182371	A	G	2: 35,086,429		probably null	Het
Amy2a1	T	C	3: 113,530,568	I108V	probably benign	Het
Aox1	T	C	1: 58,059,192		probably null	Het
Ap3b2	A	G	7: 81,463,774	S896P	unknown	Het
Ascc2	A	T	11: 4,681,496	M646L	probably benign	Het
Atp11b	T	A	3: 35,839,074	Y859N	probably damaging	Het
Bag3	T	A	7: 128,545,774	V371D	probably damaging	Het
Bhmt	T	C	13: 93,617,612	Y363C	probably benign	Het
Btbd6	T	C	12: 112,978,135	Y356H	probably damaging	Het
C2cd2l	C	T	9: 44,316,335	R172Q	probably benign	Het
Ccnt1	A	T	15: 98,551,942	H156Q	probably benign	Het
Clptm1l	C	T	13: 73,607,723	Q153*	probably null	Het
Cnep1r1	G	T	8: 88,118,817		probably benign	Het
Cnksr2	A	C	X: 157,945,306	S224R	possibly damaging	Het
Cyp26b1	T	C	6: 84,576,555	M206V	probably benign	Het
Dtx2	C	T	5: 136,030,577	S493F	probably damaging	Het
Ehd1	T	C	19: 6,298,078	L362P	probably benign	Het
Epha1	G	T	6: 42,366,053	H187Q	probably benign	Het
Erich6b	T	C	14: 75,658,911	I79T	probably benign	Het
F7	T	A	8: 13,035,183	V403D	probably damaging	Het
Fbln7	G	T	2: 128,877,466	R61L	probably damaging	Het
Fbxo41	C	T	6: 85,478,471	W577*	probably null	Het
Fbxw28	T	C	9: 109,328,224	K319E	probably benign	Het
Fgb	C	A	3: 83,049,689	D25Y	probably benign	Het
Flg2	A	G	3: 93,202,231	E522G	unknown	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Gm12695	T	C	4: 96,769,726	T69A	probably benign	Het
Gm7361	A	T	5: 26,262,151	D256V	probably damaging	Het
Hpse	A	G	5: 100,698,931	S211P	probably damaging	Het
Ifnb1	T	A	4: 88,522,759	I6F	possibly damaging	Het
Il2rg	A	G	X: 101,267,810	L57P	possibly damaging	Het
Invs	T	A	4: 48,396,287	L320Q	probably damaging	Het
Iqca	T	C	1: 90,130,231	S249G	probably benign	Het
Itpr3	G	A	17: 27,098,076	M768I	probably benign	Het
Khdc1a	T	A	1: 21,350,972	M127K	probably benign	Het
Klhl42	T	A	6: 147,101,663	W312R	probably damaging	Het
L3mbtl4	C	A	17: 68,425,692	Q56K	probably benign	Het
Lce1k	G	A	3: 92,806,857	Q7*	probably null	Het
Lonp2	A	G	8: 86,665,775	T490A	probably damaging	Het
Mbd1	C	A	18: 74,276,884	T373K	probably damaging	Het
Mpp4	G	A	1: 59,143,782	P322L	possibly damaging	Het
Mrto4	T	C	4: 139,349,023	K86E	probably benign	Het
Naf1	A	G	8: 66,887,780	D414G	probably damaging	Het
Nbas	T	A	12: 13,566,157	L2232Q	probably damaging	Het
Ncr1	T	C	7: 4,338,207	F29L	probably benign	Het
Nup133	C	A	8: 123,914,575	D869Y	probably damaging	Het
Olfr1295	A	G	2: 111,564,712	I244T	probably damaging	Het
Olfr324	A	G	11: 58,597,570	N58S	probably damaging	Het
Olfr487	T	C	7: 108,212,340	Y63C	probably damaging	Het
Olfr498	T	A	7: 108,465,668	C115S	possibly damaging	Het
Olfr705	T	A	7: 106,714,166	R172W	probably benign	Het
Olfr709-ps1	T	G	7: 106,926,955	Y168S	probably damaging	Het
Orc2	A	G	1: 58,469,695	V431A	probably damaging	Het
Phc2	T	C	4: 128,747,136	F672S	probably damaging	Het
Pigr	G	A	1: 130,850,880	G767D	probably benign	Het
Plxnb3	T	A	X: 73,771,751	Y1845*	probably null	Het
Prl7a2	T	A	13: 27,660,887	Y172F	probably damaging	Het
Prokr1	T	C	6: 87,588,713	E50G	probably damaging	Het
Prph	A	T	15: 99,056,133	D196V	probably damaging	Het
Rapgef5	C	A	12: 117,584,119	C234*	probably null	Het
Sin3a	T	A	9: 57,110,800	D834E	possibly damaging	Het
Skint1	T	A	4: 112,025,533	V258D	probably benign	Het
Slc22a16	A	G	10: 40,585,020	I273V	possibly damaging	Het
Snx13	T	C	12: 35,138,066	M781T	possibly damaging	Het
Spag17	A	G	3: 100,013,208	I420V	probably benign	Het
Synj1	T	C	16: 90,991,649		probably null	Het
Tatdn2	A	G	6: 113,704,142	K379E	probably benign	Het
Tcaf2	T	A	6: 42,628,047	N601I	probably benign	Het
Thrap3	T	C	4: 126,175,396	Y654C	possibly damaging	Het
Tmcc1	C	CAT	6: 116,042,870		probably null	Het
Tmem132d	T	C	5: 127,784,441	D872G	probably benign	Het
Troap	T	C	15: 99,082,463	L508P	probably benign	Het
Trpd52l3	T	C	19: 30,003,962	V39A	probably benign	Het
Ttn	T	C	2: 76,714,373	N32795S	probably damaging	Het
Ubap2	C	T	4: 41,199,872	A752T	probably benign	Het
Ubr5	T	C	15: 38,040,842	D266G	probably damaging	Het
Ugt2b36	T	C	5: 87,092,241	E95G	probably benign	Het
Vmn2r120	T	A	17: 57,524,553	H412L	possibly damaging	Het
Zgrf1	T	C	3: 127,613,350	C1589R	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
R1836:Ece1	UTSW	4	137958001	missense	probably damaging	1.00
R1930:Ece1	UTSW	4	137938763	missense	probably benign	0.01
R1931:Ece1	UTSW	4	137938763	missense	probably benign	0.01
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'- GTGCCCTTGAATTTTCCATGAGTC -3'
(R):5'- TCAGCCACTCCATCCTGAGAAG -3'

Sequencing Primer
(F):5'- GAATTTTCCATGAGTCGCTCC -3'
(R):5'- TCCATCCTGAGAAGCCCAGG -3'

Posted On

2014-09-17