Mutagenetix > Incidental Mutation

Incidental Mutation 'R7405:Ecel1'

574479

Institutional Source

Beutler Lab

Gene Symbol

Ecel1

Ensembl Gene

ENSMUSG00000026247

Gene Name

endothelin converting enzyme-like 1

Synonyms

XCE, DINE

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7405 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87147655-87156521 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 87153516 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027463] [ENSMUST00000160810] [ENSMUST00000161002]

AlphaFold

Q9JMI0

Predicted Effect

probably null
Transcript: ENSMUST00000027463

SMART Domains

Protein: ENSMUSP00000027463
Gene: ENSMUSG00000026247

Domain	Start	End	E-Value	Type
low complexity region	32	54	N/A	INTRINSIC
transmembrane domain	60	82	N/A	INTRINSIC
low complexity region	86	102	N/A	INTRINSIC
Pfam:Peptidase_M13_N	124	513	6.4e-112	PFAM
Pfam:Peptidase_M13	571	774	5.2e-66	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000160810

SMART Domains

Protein: ENSMUSP00000125557
Gene: ENSMUSG00000026247

Domain	Start	End	E-Value	Type
low complexity region	32	54	N/A	INTRINSIC
transmembrane domain	60	82	N/A	INTRINSIC
low complexity region	86	102	N/A	INTRINSIC
Pfam:Peptidase_M13_N	124	513	1.2e-98	PFAM
Pfam:Peptidase_M13	571	774	2.3e-72	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000161002

SMART Domains

Protein: ENSMUSP00000125096
Gene: ENSMUSG00000026247

Domain	Start	End	E-Value	Type
low complexity region	32	54	N/A	INTRINSIC
transmembrane domain	60	82	N/A	INTRINSIC
low complexity region	86	102	N/A	INTRINSIC
Pfam:Peptidase_M13_N	124	513	6.4e-112	PFAM
Pfam:Peptidase_M13	571	774	5.2e-66	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
PHENOTYPE: Targeted mutations of this gene result in respiratory distress causing neonatal lethality due to reduced diaphram innervation. [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
1700010I14Rik	G	T	17: 9,001,817	V383L	probably damaging	Het
1700012P22Rik	T	C	4: 144,419,753	N110S	probably damaging	Het
2410141K09Rik	T	C	13: 66,431,059	Q455R	unknown	Het
4930507D05Rik	C	A	10: 62,449,784	H96N	unknown	Het
4930539E08Rik	G	A	17: 28,905,324	R335W	probably damaging	Het
5730480H06Rik	T	C	5: 48,388,116	I235T	possibly damaging	Het
Abcb11	A	G	2: 69,287,619	Y472H	probably damaging	Het
Adam39	A	T	8: 40,824,622	I17L	probably benign	Het
Aire	T	C	10: 78,034,613	H458R	probably benign	Het
Ap3d1	T	C	10: 80,741,900	D31G	probably benign	Het
Atad2b	T	A	12: 4,943,232	H250Q	probably benign	Het
Borcs5	C	A	6: 134,685,982	T74N	probably benign	Het
Btbd16	C	T	7: 130,805,856	T292I	probably benign	Het
Catsperd	G	A	17: 56,632,335	V55M	possibly damaging	Het
Ctr9	T	C	7: 111,043,714	F462S	possibly damaging	Het
Cyp4f39	A	G	17: 32,481,815	S153G	probably benign	Het
Ddo	T	C	10: 40,647,997	C328R	possibly damaging	Het
Ddr1	A	G	17: 35,690,100	V251A	probably damaging	Het
Dis3l	A	G	9: 64,314,704	F475L	probably damaging	Het
Dkk4	G	A	8: 22,625,843	V99M	probably benign	Het
Dync1h1	C	T	12: 110,634,220	A1938V	probably damaging	Het
Fbxo7	T	A	10: 86,044,581	Y377N	probably damaging	Het
Fbxw24	T	C	9: 109,607,068	I299V	possibly damaging	Het
Fkbp10	C	T	11: 100,415,881	A33V	probably damaging	Het
Gabra1	T	C	11: 42,155,023	T87A	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm884	A	T	11: 103,615,161	Y1994N	probably benign	Het
Golga3	A	T	5: 110,208,446	I1000F	probably damaging	Het
Grid2ip	T	C	5: 143,380,444	I563T	probably benign	Het
Gsx1	T	C	5: 147,189,133	S82P	possibly damaging	Het
Heg1	A	G	16: 33,763,449	K34E	possibly damaging	Het
Kank1	T	A	19: 25,410,319	L452*	probably null	Het
Lce1k	A	T	3: 92,806,874	M1K	probably null	Het
Lcmt2	A	G	2: 121,139,387	I185T	probably benign	Het
Lrp1	T	C	10: 127,581,751	D1046G	possibly damaging	Het
Mast3	A	T	8: 70,786,171	D496E	probably damaging	Het
Mst1r	C	T	9: 107,915,122	S925F	possibly damaging	Het
Mterf2	C	T	10: 85,120,496	G88D	probably damaging	Het
Mthfd1	T	C	12: 76,311,874	V783A	probably damaging	Het
Mybpc2	A	T	7: 44,507,194	W778R	probably damaging	Het
Nbea	A	G	3: 55,805,266	L2130P	possibly damaging	Het
Ndst4	A	G	3: 125,683,216	N30S	probably benign	Het
Nphs1	T	C	7: 30,462,828	V299A	possibly damaging	Het
Nup107	T	C	10: 117,770,415	D474G	probably benign	Het
Olfr1118	A	C	2: 87,308,995	I89L	probably benign	Het
Olfr1490	T	C	19: 13,654,882	V151A	probably benign	Het
Olfr225	T	A	11: 59,614,073	F370I	possibly damaging	Het
Olfr8	T	C	10: 78,955,697	V164A	probably benign	Het
Pgap2	T	C	7: 102,231,388	V41A	probably benign	Het
Plekhh1	C	T	12: 79,055,047	T297I	probably benign	Het
Plxna4	A	T	6: 32,196,319	Y1226N	probably benign	Het
Polr3b	A	G	10: 84,684,179	D653G	probably benign	Het
Ppp2r2c	T	C	5: 36,947,142	F289L	possibly damaging	Het
Prickle2	A	G	6: 92,458,543	S82P	probably damaging	Het
Ptger2	T	A	14: 44,989,074	V37D	probably damaging	Het
Rasa2	G	A	9: 96,566,027	P526S	probably benign	Het
Rbm47	A	T	5: 66,026,495	I255N	probably damaging	Het
Sez6	A	T	11: 77,962,891	T296S	probably benign	Het
Slc2a9	T	A	5: 38,391,824	I316F	probably damaging	Het
Slc41a1	T	A	1: 131,839,146	V134D	probably damaging	Het
Slc5a7	A	T	17: 54,297,133	S2T	probably benign	Het
Slc9a4	C	T	1: 40,600,926	R293C	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Suco	A	G	1: 161,828,214	F1039L	possibly damaging	Het
Sycp1	A	G	3: 102,925,227	Y208H	possibly damaging	Het
Tpr	T	C	1: 150,442,127	S2129P	probably benign	Het
Trim34b	T	A	7: 104,336,483	S442T	probably damaging	Het
Ttn	A	T	2: 76,743,346	Y25734*	probably null	Het
Uchl5	C	T	1: 143,800,014	Q276*	probably null	Het
Wrn	C	G	8: 33,248,966	W1278S	probably benign	Het
Yeats2	T	A	16: 20,222,913	D1184E	probably damaging	Het
Zfat	G	A	15: 68,184,485	R241W	probably damaging	Het
Zfp646	T	A	7: 127,878,796	Y48*	probably null	Het

Other mutations in Ecel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Ecel1	APN	1	87153193	missense	possibly damaging	0.84
IGL01431:Ecel1	APN	1	87151504	missense	probably damaging	0.99
IGL01992:Ecel1	APN	1	87149855	splice site	probably benign
IGL02040:Ecel1	APN	1	87154923	missense	probably benign	0.32
IGL02230:Ecel1	APN	1	87152194	missense	probably damaging	1.00
IGL02801:Ecel1	APN	1	87152003	missense	probably damaging	1.00
Capulin	UTSW	1	87153301	missense	probably damaging	0.99
R0139:Ecel1	UTSW	1	87154526	missense	possibly damaging	0.95
R1723:Ecel1	UTSW	1	87154421	missense	probably benign	0.37
R2118:Ecel1	UTSW	1	87148275	missense	probably damaging	1.00
R2119:Ecel1	UTSW	1	87148275	missense	probably damaging	1.00
R2120:Ecel1	UTSW	1	87148275	missense	probably damaging	1.00
R2122:Ecel1	UTSW	1	87148275	missense	probably damaging	1.00
R3815:Ecel1	UTSW	1	87152900	missense	probably damaging	0.97
R3836:Ecel1	UTSW	1	87150656	missense	probably damaging	1.00
R4211:Ecel1	UTSW	1	87152150	missense	probably damaging	1.00
R4685:Ecel1	UTSW	1	87152946	splice site	probably null
R4841:Ecel1	UTSW	1	87153301	missense	probably damaging	0.99
R4842:Ecel1	UTSW	1	87153301	missense	probably damaging	0.99
R4888:Ecel1	UTSW	1	87148727	splice site	probably benign
R4976:Ecel1	UTSW	1	87151139	missense	probably benign	0.17
R5032:Ecel1	UTSW	1	87154253	missense	probably damaging	0.97
R5119:Ecel1	UTSW	1	87151139	missense	probably benign	0.17
R5393:Ecel1	UTSW	1	87152876	missense	possibly damaging	0.95
R5798:Ecel1	UTSW	1	87151483	missense	probably damaging	1.00
R5862:Ecel1	UTSW	1	87149596	missense	probably benign	0.19
R5874:Ecel1	UTSW	1	87148009	missense	probably benign	0.24
R6341:Ecel1	UTSW	1	87150471	splice site	probably null
R6351:Ecel1	UTSW	1	87149509	missense	possibly damaging	0.56
R6534:Ecel1	UTSW	1	87154842	missense	probably benign	0.13
R7422:Ecel1	UTSW	1	87149612	missense	probably damaging	1.00
R7850:Ecel1	UTSW	1	87152023	missense	probably damaging	1.00
R7939:Ecel1	UTSW	1	87149534	missense	probably benign	0.19
R7950:Ecel1	UTSW	1	87148269	missense	probably damaging	0.98
R8022:Ecel1	UTSW	1	87153330	missense	probably benign	0.34
R8856:Ecel1	UTSW	1	87152038	missense	probably damaging	1.00
R8954:Ecel1	UTSW	1	87148627	nonsense	probably null
R8967:Ecel1	UTSW	1	87151140	missense	probably damaging	0.98
R9248:Ecel1	UTSW	1	87153390	missense	probably benign	0.00
R9395:Ecel1	UTSW	1	87154628	missense	probably damaging	0.99
R9487:Ecel1	UTSW	1	87147994	missense	probably damaging	1.00
R9620:Ecel1	UTSW	1	87153131	missense	possibly damaging	0.65
R9676:Ecel1	UTSW	1	87152021	missense	probably damaging	1.00
R9694:Ecel1	UTSW	1	87153131	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- CTCTGTTCCAGCTGAAGGATTTC -3'
(R):5'- ATGATCCCGGAGCTTGTGAC -3'

Sequencing Primer
(F):5'- AGGATTTCCTGCGCCTTCTG -3'
(R):5'- GACAACAGATCCGTATTTGACTCGTC -3'

Posted On

2019-09-13