Mutagenetix > Incidental Mutation

Incidental Mutation 'R5874:Ecel1'

455355

Institutional Source

Beutler Lab

Gene Symbol

Ecel1

Ensembl Gene

ENSMUSG00000026247

Gene Name

endothelin converting enzyme-like 1

Synonyms

XCE, DINE

MMRRC Submission

044081-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5874 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

87075377-87084243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87075731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 769 (V769G)

Ref Sequence

ENSEMBL: ENSMUSP00000125096 (fasta)

Gene Model

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

AlphaFold

Q9JMI0

Predicted Effect

probably benign
Transcript: ENSMUST00000027463
AA Change: V769G

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000027463
Gene: ENSMUSG00000026247
AA Change: V769G

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 benign
Transcript: ENSMUST00000160810
AA Change: V769G

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125557
Gene: ENSMUSG00000026247
AA Change: V769G

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 benign
Transcript: ENSMUST00000161002
AA Change: V769G

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125096
Gene: ENSMUSG00000026247
AA Change: V769G

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

noncoding transcript
Transcript: ENSMUST00000162015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187198

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

98% (86/88)

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
4930432E11Rik	G	A	7: 29,280,610 (GRCm39)		noncoding transcript	Het
Adam17	T	C	12: 21,379,087 (GRCm39)	D654G	possibly damaging	Het
Ankhd1	A	T	18: 36,773,322 (GRCm39)	H1373L	possibly damaging	Het
Ankrd17	T	C	5: 90,416,656 (GRCm39)		probably benign	Het
Calu	A	G	6: 29,372,617 (GRCm39)	D112G	probably damaging	Het
Camk2a	G	C	18: 61,076,272 (GRCm39)		probably benign	Het
Cpn1	C	A	19: 43,944,951 (GRCm39)	R452L	probably benign	Het
Csmd3	T	A	15: 47,507,666 (GRCm39)	E2780V	probably damaging	Het
Ctnna2	T	C	6: 76,879,413 (GRCm39)	T824A	probably benign	Het
Cuedc2	C	T	19: 46,319,824 (GRCm39)	V164M	possibly damaging	Het
Cyp2d34	T	A	15: 82,503,243 (GRCm39)	D74V	probably benign	Het
Ddi2	A	G	4: 141,422,780 (GRCm39)	S311P	probably damaging	Het
Ddx10	A	C	9: 53,140,498 (GRCm39)	I301R	possibly damaging	Het
Dmpk	T	C	7: 18,826,007 (GRCm39)		probably benign	Het
Dnah7b	C	T	1: 46,230,885 (GRCm39)	T1381I	probably damaging	Het
Dst	T	A	1: 34,218,670 (GRCm39)	N1703K	probably damaging	Het
Dtwd1	T	A	2: 126,000,359 (GRCm39)	H98Q	probably damaging	Het
Eno4	T	C	19: 58,935,238 (GRCm39)	V150A	probably benign	Het
Evc2	C	T	5: 37,574,883 (GRCm39)		probably benign	Het
Ext1	T	A	15: 52,965,148 (GRCm39)	Q406L	possibly damaging	Het
Foxf2	A	G	13: 31,810,775 (GRCm39)	H238R	probably benign	Het
Frem2	C	G	3: 53,444,910 (GRCm39)	G2407A	probably benign	Het
Fzd10	A	G	5: 128,678,364 (GRCm39)	E28G	probably benign	Het
Galnt15	T	C	14: 31,774,324 (GRCm39)	F363L	probably damaging	Het
Gm1758	C	T	16: 14,325,037 (GRCm39)		noncoding transcript	Het
Gm5866	C	T	5: 52,739,956 (GRCm39)		noncoding transcript	Het
Heatr9	T	A	11: 83,405,426 (GRCm39)	M345L	probably benign	Het
Il23r	A	T	6: 67,408,629 (GRCm39)	F404Y	possibly damaging	Het
Lrrc8a	T	C	2: 30,147,148 (GRCm39)	I654T	probably damaging	Het
Napg	A	T	18: 63,111,091 (GRCm39)	K18*	probably null	Het
Ndst3	A	T	3: 123,355,556 (GRCm39)	W573R	probably damaging	Het
Nin	T	C	12: 70,077,692 (GRCm39)	S1038G	possibly damaging	Het
Nudt12	T	A	17: 59,317,279 (GRCm39)	R123*	probably null	Het
Oas1g	T	A	5: 121,015,081 (GRCm39)	N361Y	probably benign	Het
Or5p51	T	A	7: 107,444,377 (GRCm39)	I188L	probably benign	Het
Or7a35	T	A	10: 78,853,191 (GRCm39)	F12I	possibly damaging	Het
Or8h10	A	T	2: 86,808,786 (GRCm39)	M118K	probably damaging	Het
Osbpl10	T	C	9: 115,055,828 (GRCm39)	F667L	probably damaging	Het
Phldb2	T	C	16: 45,621,988 (GRCm39)	D664G	probably damaging	Het
Piezo2	C	T	18: 63,160,972 (GRCm39)	V2263M	probably damaging	Het
Pkd1l1	A	G	11: 8,858,688 (GRCm39)	L615P	probably damaging	Het
Pnpla7	G	A	2: 24,901,661 (GRCm39)	M562I	probably benign	Het
Pou2af2	A	T	9: 51,201,672 (GRCm39)	L128*	probably null	Het
Ppp1r13b	C	A	12: 111,811,423 (GRCm39)	R155L	probably damaging	Het
Pygb	C	T	2: 150,628,798 (GRCm39)	P4L	probably benign	Het
Rbm44	T	C	1: 91,084,562 (GRCm39)		probably null	Het
Rilpl2	T	C	5: 124,607,876 (GRCm39)	T115A	probably benign	Het
Rin3	A	G	12: 102,356,102 (GRCm39)	Y801C	probably damaging	Het
Rnf112	A	G	11: 61,340,273 (GRCm39)	V619A	probably damaging	Het
Rnf182	A	G	13: 43,821,563 (GRCm39)	E38G	probably benign	Het
Scgb2b24	T	A	7: 33,436,830 (GRCm39)	Y94F	probably damaging	Het
Serac1	C	A	17: 6,094,188 (GRCm39)		probably benign	Het
Shld2	T	C	14: 33,967,215 (GRCm39)	T114A	probably benign	Het
Slc6a19	A	T	13: 73,832,487 (GRCm39)	V402D	probably damaging	Het
Slco1a8	A	T	6: 141,917,961 (GRCm39)	H638Q	probably benign	Het
Slco2b1	T	A	7: 99,316,301 (GRCm39)	M410L	probably benign	Het
Smarca2	T	C	19: 26,753,469 (GRCm39)		probably benign	Het
Sned1	A	G	1: 93,193,067 (GRCm39)	Y409C	probably damaging	Het
Sorcs2	A	G	5: 36,386,555 (GRCm39)	V161A	probably damaging	Het
Spring1	T	C	5: 118,397,504 (GRCm39)	V162A	probably damaging	Het
Sptb	T	C	12: 76,645,501 (GRCm39)	E2029G	possibly damaging	Het
Stx7	T	A	10: 24,058,659 (GRCm39)		probably null	Het
Taf4b	T	C	18: 14,937,611 (GRCm39)	V228A	probably benign	Het
Tbc1d1	A	G	5: 64,507,273 (GRCm39)	*1163W	probably null	Het
Tor4a	G	A	2: 25,084,847 (GRCm39)	A352V	probably damaging	Het
Trpm4	A	G	7: 44,977,173 (GRCm39)	F81S	probably damaging	Het
Ttn	T	A	2: 76,780,436 (GRCm39)	D1105V	probably damaging	Het
Vcf1	T	A	11: 113,568,220 (GRCm39)	R78S	probably damaging	Het
Yju2b	T	A	8: 84,985,177 (GRCm39)	D364V	possibly damaging	Het
Zfp551	A	G	7: 12,150,101 (GRCm39)	L436P	probably damaging	Het
Zfp975	G	T	7: 42,312,312 (GRCm39)	D100E	probably benign	Het
Zswim3	A	G	2: 164,662,032 (GRCm39)	I171V	probably benign	Het
Zwint	C	T	10: 72,492,294 (GRCm39)		probably benign	Het

Other mutations in Ecel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Ecel1	APN	1	87,080,915 (GRCm39)	missense	possibly damaging	0.84
IGL01431:Ecel1	APN	1	87,079,226 (GRCm39)	missense	probably damaging	0.99
IGL01992:Ecel1	APN	1	87,077,577 (GRCm39)	splice site	probably benign
IGL02040:Ecel1	APN	1	87,082,645 (GRCm39)	missense	probably benign	0.32
IGL02230:Ecel1	APN	1	87,079,916 (GRCm39)	missense	probably damaging	1.00
IGL02801:Ecel1	APN	1	87,079,725 (GRCm39)	missense	probably damaging	1.00
Capulin	UTSW	1	87,081,023 (GRCm39)	missense	probably damaging	0.99
R0139:Ecel1	UTSW	1	87,082,248 (GRCm39)	missense	possibly damaging	0.95
R1723:Ecel1	UTSW	1	87,082,143 (GRCm39)	missense	probably benign	0.37
R2118:Ecel1	UTSW	1	87,075,997 (GRCm39)	missense	probably damaging	1.00
R2119:Ecel1	UTSW	1	87,075,997 (GRCm39)	missense	probably damaging	1.00
R2120:Ecel1	UTSW	1	87,075,997 (GRCm39)	missense	probably damaging	1.00
R2122:Ecel1	UTSW	1	87,075,997 (GRCm39)	missense	probably damaging	1.00
R3815:Ecel1	UTSW	1	87,080,622 (GRCm39)	missense	probably damaging	0.97
R3836:Ecel1	UTSW	1	87,078,378 (GRCm39)	missense	probably damaging	1.00
R4211:Ecel1	UTSW	1	87,079,872 (GRCm39)	missense	probably damaging	1.00
R4685:Ecel1	UTSW	1	87,080,668 (GRCm39)	splice site	probably null
R4841:Ecel1	UTSW	1	87,081,023 (GRCm39)	missense	probably damaging	0.99
R4842:Ecel1	UTSW	1	87,081,023 (GRCm39)	missense	probably damaging	0.99
R4888:Ecel1	UTSW	1	87,076,449 (GRCm39)	splice site	probably benign
R4976:Ecel1	UTSW	1	87,078,861 (GRCm39)	missense	probably benign	0.17
R5032:Ecel1	UTSW	1	87,081,975 (GRCm39)	missense	probably damaging	0.97
R5119:Ecel1	UTSW	1	87,078,861 (GRCm39)	missense	probably benign	0.17
R5393:Ecel1	UTSW	1	87,080,598 (GRCm39)	missense	possibly damaging	0.95
R5798:Ecel1	UTSW	1	87,079,205 (GRCm39)	missense	probably damaging	1.00
R5862:Ecel1	UTSW	1	87,077,318 (GRCm39)	missense	probably benign	0.19
R6341:Ecel1	UTSW	1	87,078,193 (GRCm39)	splice site	probably null
R6351:Ecel1	UTSW	1	87,077,231 (GRCm39)	missense	possibly damaging	0.56
R6534:Ecel1	UTSW	1	87,082,564 (GRCm39)	missense	probably benign	0.13
R7405:Ecel1	UTSW	1	87,081,238 (GRCm39)	critical splice donor site	probably null
R7422:Ecel1	UTSW	1	87,077,334 (GRCm39)	missense	probably damaging	1.00
R7850:Ecel1	UTSW	1	87,079,745 (GRCm39)	missense	probably damaging	1.00
R7939:Ecel1	UTSW	1	87,077,256 (GRCm39)	missense	probably benign	0.19
R7950:Ecel1	UTSW	1	87,075,991 (GRCm39)	missense	probably damaging	0.98
R8022:Ecel1	UTSW	1	87,081,052 (GRCm39)	missense	probably benign	0.34
R8856:Ecel1	UTSW	1	87,079,760 (GRCm39)	missense	probably damaging	1.00
R8954:Ecel1	UTSW	1	87,076,349 (GRCm39)	nonsense	probably null
R8967:Ecel1	UTSW	1	87,078,862 (GRCm39)	missense	probably damaging	0.98
R9248:Ecel1	UTSW	1	87,081,112 (GRCm39)	missense	probably benign	0.00
R9395:Ecel1	UTSW	1	87,082,350 (GRCm39)	missense	probably damaging	0.99
R9487:Ecel1	UTSW	1	87,075,716 (GRCm39)	missense	probably damaging	1.00
R9620:Ecel1	UTSW	1	87,080,853 (GRCm39)	missense	possibly damaging	0.65
R9676:Ecel1	UTSW	1	87,079,743 (GRCm39)	missense	probably damaging	1.00
R9694:Ecel1	UTSW	1	87,080,853 (GRCm39)	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- TCGCTTAAGTGAAGGACTGC -3'
(R):5'- ACTACCGGTAGGCTCATCTG -3'

Sequencing Primer
(F):5'- CTTAAGTGAAGGACTGCAGGGG -3'
(R):5'- GCTCATCTGCCTTGCTGGG -3'

Posted On

2017-02-10