Mutagenetix > Incidental Mutation

Incidental Mutation 'R2281:Ece1'

243108

Institutional Source

Beutler Lab

Gene Symbol

Ece1

Ensembl Gene

ENSMUSG00000057530

Gene Name

endothelin converting enzyme 1

Synonyms

MMRRC Submission

040280-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.765) question?

Stock #

R2281 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137862237-137965229 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 137946362 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 407 (T407M)

Ref Sequence

ENSEMBL: ENSMUSP00000099576 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102518
AA Change: T407M

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099576
Gene: ENSMUSG00000057530
AA Change: T407M

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	G	3: 146,646,424 (GRCm38)	L228S	probably damaging	Het
Abca13	A	T	11: 9,328,136 (GRCm38)	K3105N	probably damaging	Het
Abca3	T	A	17: 24,376,726 (GRCm38)	L351Q	possibly damaging	Het
Acadm	A	G	3: 153,933,043 (GRCm38)	I231T	possibly damaging	Het
Adamts4	A	T	1: 171,256,229 (GRCm38)	Q456L	probably damaging	Het
Adgra3	C	T	5: 50,001,880 (GRCm38)	V343I	probably benign	Het
Ajuba	C	A	14: 54,577,188 (GRCm38)	G26V	probably damaging	Het
Aldh1a1	A	G	19: 20,620,091 (GRCm38)	I145M	possibly damaging	Het
Ankrd42	G	A	7: 92,625,773 (GRCm38)	Q110*	probably null	Het
Ano3	T	A	2: 110,682,759 (GRCm38)	E630D	probably benign	Het
Ap3d1	T	C	10: 80,713,998 (GRCm38)	D771G	probably damaging	Het
Arhgap30	A	G	1: 171,389,328 (GRCm38)	D21G	probably damaging	Het
Atg13	T	C	2: 91,679,425 (GRCm38)	N374S	probably benign	Het
Ccdc168	T	A	1: 44,056,460 (GRCm38)	H1826L	possibly damaging	Het
Ccser1	A	T	6: 61,570,815 (GRCm38)	M49L	probably damaging	Het
Cdh5	A	G	8: 104,125,733 (GRCm38)	E160G	probably damaging	Het
Cpd	T	C	11: 76,797,801 (GRCm38)	K882E	probably benign	Het
Crtac1	G	A	19: 42,283,567 (GRCm38)	L646F	unknown	Het
Cyp27b1	T	G	10: 127,048,294 (GRCm38)	V5G	probably damaging	Het
Dcaf11	G	T	14: 55,569,371 (GRCm38)	*550Y	probably null	Het
Dhx58	A	G	11: 100,698,154 (GRCm38)		probably null	Het
Dlg2	T	A	7: 92,438,041 (GRCm38)	I881N	probably damaging	Het
Ecsit	C	T	9: 22,076,540 (GRCm38)	V68I	possibly damaging	Het
Egln1	T	C	8: 124,948,414 (GRCm38)	D214G	probably benign	Het
Espn	T	C	4: 152,135,545 (GRCm38)	T47A	possibly damaging	Het
F5	A	G	1: 164,195,720 (GRCm38)	I1616V	possibly damaging	Het
Fam43b	G	C	4: 138,395,098 (GRCm38)	R304G	probably benign	Het
Flnc	G	A	6: 29,438,666 (GRCm38)	W186*	probably null	Het
Fryl	T	C	5: 73,041,364 (GRCm38)	D2640G	possibly damaging	Het
Gabrg2	T	C	11: 41,976,636 (GRCm38)	K52R	possibly damaging	Het
Ganab	T	C	19: 8,909,468 (GRCm38)	V306A	probably damaging	Het
Glod4	A	T	11: 76,237,809 (GRCm38)	I70N	possibly damaging	Het
Gsn	T	A	2: 35,283,918 (GRCm38)	V2E	probably benign	Het
H1f2	A	G	13: 23,738,924 (GRCm38)	K26E	probably benign	Het
Hrg	C	T	16: 22,961,309 (GRCm38)		probably benign	Het
Kctd19	T	C	8: 105,387,266 (GRCm38)	T592A	probably benign	Het
Kdm3b	A	G	18: 34,808,419 (GRCm38)	D521G	probably damaging	Het
Lrba	A	G	3: 86,776,103 (GRCm38)	H2744R	possibly damaging	Het
Lsr	C	T	7: 30,958,345 (GRCm38)	A397T	probably damaging	Het
Methig1	A	T	15: 100,353,360 (GRCm38)	M51L	possibly damaging	Het
Mga	A	G	2: 119,903,723 (GRCm38)	I351V	probably benign	Het
Mlf1	G	A	3: 67,399,751 (GRCm38)	V250I	possibly damaging	Het
Mreg	A	T	1: 72,192,064 (GRCm38)	N78K	probably damaging	Het
Mtor	A	G	4: 148,489,555 (GRCm38)	D1294G	probably benign	Het
Nfkb1	T	C	3: 135,601,521 (GRCm38)	I548V	probably damaging	Het
Nlrp3	T	C	11: 59,549,136 (GRCm38)	F513S	possibly damaging	Het
Nphp4	A	G	4: 152,557,043 (GRCm38)	K1094E	possibly damaging	Het
Nr3c2	C	A	8: 76,909,907 (GRCm38)	H546N	probably damaging	Het
Nr4a2	T	A	2: 57,112,199 (GRCm38)	M18L	probably benign	Het
Or2y1f	A	C	11: 49,293,632 (GRCm38)	T104P	probably benign	Het
Or4c109	G	A	2: 88,987,470 (GRCm38)	T244I	probably benign	Het
Pclo	A	G	5: 14,540,332 (GRCm38)	N882S	unknown	Het
Pde6a	T	C	18: 61,262,434 (GRCm38)	Y583H	probably damaging	Het
Pip5k1b	T	A	19: 24,378,947 (GRCm38)	Y209F	probably damaging	Het
Plch2	A	T	4: 154,984,309 (GRCm38)	S1182T	probably damaging	Het
Ptger2	G	T	14: 44,989,650 (GRCm38)	R229L	probably damaging	Het
Ptpru	C	A	4: 131,808,499 (GRCm38)	G389V	probably damaging	Het
Ric8a	A	G	7: 140,861,938 (GRCm38)	N249S	probably benign	Het
Slc26a5	A	G	5: 21,831,510 (GRCm38)	I266T	possibly damaging	Het
Smyd1	T	C	6: 71,238,676 (GRCm38)	N100D	probably damaging	Het
Spmap2l	T	C	5: 77,059,367 (GRCm38)	I324T	probably damaging	Het
Stag3	T	C	5: 138,298,284 (GRCm38)	F468S	probably damaging	Het
Stk31	C	T	6: 49,417,250 (GRCm38)	T182I	probably damaging	Het
Svep1	G	T	4: 58,082,677 (GRCm38)	N1982K	possibly damaging	Het
Tinagl1	A	G	4: 130,166,993 (GRCm38)	Y344H	probably damaging	Het
Tmem216	T	A	19: 10,551,873 (GRCm38)	T104S	probably damaging	Het
Tmem231	T	C	8: 111,918,931 (GRCm38)	D112G	probably damaging	Het
Ube4b	A	G	4: 149,344,572 (GRCm38)	I870T	probably damaging	Het
Vwa8	T	A	14: 79,064,996 (GRCm38)	L1035Q	possibly damaging	Het
Wdr35	A	G	12: 8,978,628 (GRCm38)	Q82R	probably benign	Het
Wnk1	A	T	6: 119,963,640 (GRCm38)		probably null	Het
Zc3h7a	T	C	16: 11,158,594 (GRCm38)		probably benign	Het
Zfp532	T	C	18: 65,624,712 (GRCm38)	V572A	probably damaging	Het

Other mutations in Ece1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Ece1	APN	4	137,938,658 (GRCm38)	missense	probably damaging	1.00
IGL01538:Ece1	APN	4	137,948,544 (GRCm38)	missense	probably benign
IGL01588:Ece1	APN	4	137,957,206 (GRCm38)	splice site	probably benign
IGL01678:Ece1	APN	4	137,962,733 (GRCm38)	missense	probably damaging	1.00
IGL02619:Ece1	APN	4	137,938,733 (GRCm38)	missense	probably benign	0.08
IGL02936:Ece1	APN	4	137,946,301 (GRCm38)	missense	probably benign	0.01
IGL02956:Ece1	APN	4	137,962,838 (GRCm38)	missense	probably damaging	0.99
IGL03332:Ece1	APN	4	137,946,355 (GRCm38)	missense	probably damaging	0.99
R0063:Ece1	UTSW	4	137,948,581 (GRCm38)	missense	probably benign	0.14
R0240:Ece1	UTSW	4	137,949,435 (GRCm38)	splice site	probably benign
R1004:Ece1	UTSW	4	137,926,239 (GRCm38)	missense	probably benign	0.04
R1515:Ece1	UTSW	4	137,951,508 (GRCm38)	missense	probably benign	0.00
R1541:Ece1	UTSW	4	137,948,660 (GRCm38)	splice site	probably null
R1796:Ece1	UTSW	4	137,958,001 (GRCm38)	missense	probably damaging	1.00
R1834:Ece1	UTSW	4	137,958,128 (GRCm38)	missense	probably damaging	0.99
R1834:Ece1	UTSW	4	137,958,001 (GRCm38)	missense	probably damaging	1.00
R1836:Ece1	UTSW	4	137,958,001 (GRCm38)	missense	probably damaging	1.00
R1930:Ece1	UTSW	4	137,938,763 (GRCm38)	missense	probably benign	0.01
R1931:Ece1	UTSW	4	137,938,763 (GRCm38)	missense	probably benign	0.01
R2065:Ece1	UTSW	4	137,958,082 (GRCm38)	missense	probably benign	0.04
R3118:Ece1	UTSW	4	137,948,544 (GRCm38)	missense	probably benign
R4720:Ece1	UTSW	4	137,957,175 (GRCm38)	missense	probably damaging	1.00
R4773:Ece1	UTSW	4	137,945,153 (GRCm38)	missense	probably benign	0.00
R5794:Ece1	UTSW	4	137,956,533 (GRCm38)	missense	probably damaging	0.99
R5969:Ece1	UTSW	4	137,961,740 (GRCm38)	critical splice donor site	probably null
R6056:Ece1	UTSW	4	137,961,647 (GRCm38)	missense	probably damaging	1.00
R6332:Ece1	UTSW	4	137,958,008 (GRCm38)	missense	probably damaging	1.00
R6648:Ece1	UTSW	4	137,921,159 (GRCm38)	missense	probably benign	0.00
R7285:Ece1	UTSW	4	137,913,763 (GRCm38)	splice site	probably null
R7387:Ece1	UTSW	4	137,938,784 (GRCm38)	missense	possibly damaging	0.69
R8103:Ece1	UTSW	4	137,913,822 (GRCm38)	missense	probably benign
R8294:Ece1	UTSW	4	137,948,620 (GRCm38)	missense	possibly damaging	0.60
R8308:Ece1	UTSW	4	137,936,764 (GRCm38)	missense	probably damaging	0.99
R8806:Ece1	UTSW	4	137,945,141 (GRCm38)	missense	probably damaging	1.00
R9578:Ece1	UTSW	4	137,913,822 (GRCm38)	missense	probably benign
X0063:Ece1	UTSW	4	137,926,375 (GRCm38)	missense	probably damaging	0.97
Z1176:Ece1	UTSW	4	137,921,027 (GRCm38)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TCAGCAGTTGTATGGGCAGG -3'
(R):5'- TGGCTCAGTGTGCTTACTTC -3'

Sequencing Primer
(F):5'- TATGGGCAGGCTGGAGG -3'
(R):5'- TCAATCTCCTCCCTTAGGA -3'

Posted On

2014-10-16