Mutagenetix > Incidental Mutation

Incidental Mutation 'R4841:Ecel1'

472647

Institutional Source

Beutler Lab

Gene Symbol

Ecel1

Ensembl Gene

ENSMUSG00000026247

Gene Name

endothelin converting enzyme-like 1

Synonyms

XCE, DINE

MMRRC Submission

042454-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4841 (G1)

Quality Score

166

Status

Not validated

Chromosome

Chromosomal Location

87075377-87084243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87081023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 322 (N322K)

Ref Sequence

ENSEMBL: ENSMUSP00000125096 (fasta)

Gene Model

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

AlphaFold

Q9JMI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000027463
AA Change: N322K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027463
Gene: ENSMUSG00000026247
AA Change: N322K

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: ENSMUST00000159662

Predicted Effect

probably damaging
Transcript: ENSMUST00000160810
AA Change: N322K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125557
Gene: ENSMUSG00000026247
AA Change: N322K

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 damaging
Transcript: ENSMUST00000161002
AA Change: N322K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125096
Gene: ENSMUSG00000026247
AA Change: N322K

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	T	17: 15,164,001 (GRCm39)	I43L	possibly damaging	Het
4933427I04Rik	T	A	4: 123,754,170 (GRCm39)	M28K	probably benign	Het
A2m	A	T	6: 121,623,803 (GRCm39)	I390F	probably benign	Het
Abcc8	T	C	7: 45,800,252 (GRCm39)	K510R	probably damaging	Het
Adamts6	A	G	13: 104,449,295 (GRCm39)	D39G	probably benign	Het
Adgrl3	T	C	5: 81,942,118 (GRCm39)	S1326P	possibly damaging	Het
Adgrv1	A	G	13: 81,651,120 (GRCm39)		probably null	Het
Ap3b2	G	A	7: 81,127,678 (GRCm39)	A166V	probably damaging	Het
Bbox1	T	A	2: 110,134,084 (GRCm39)		probably null	Het
Bckdk	A	G	7: 127,504,633 (GRCm39)		probably null	Het
Cand1	C	A	10: 119,049,451 (GRCm39)		probably null	Het
Capn5	T	C	7: 97,780,879 (GRCm39)		probably null	Het
Ccdc121rt2	A	T	5: 112,598,106 (GRCm39)	K218*	probably null	Het
Cd209c	G	T	8: 3,995,905 (GRCm39)	R2S	probably benign	Het
Ces1g	C	T	8: 94,060,323 (GRCm39)	E99K	probably benign	Het
Cnmd	A	G	14: 79,887,762 (GRCm39)	I153T	possibly damaging	Het
Cntrob	C	G	11: 69,206,220 (GRCm39)	L315F	possibly damaging	Het
Cspg4b	G	A	13: 113,502,724 (GRCm39)	G143D	probably benign	Het
Ctdp1	A	G	18: 80,451,941 (GRCm39)	S145P	unknown	Het
Dmrt2	G	A	19: 25,655,031 (GRCm39)	G210D	probably damaging	Het
Dnajc16	A	G	4: 141,501,936 (GRCm39)	F298S	probably damaging	Het
Dock5	T	C	14: 68,055,012 (GRCm39)	D618G	probably damaging	Het
Drc3	G	A	11: 60,261,361 (GRCm39)	A171T	probably benign	Het
Dspp	A	T	5: 104,325,052 (GRCm39)	S472C	unknown	Het
Dspp	G	T	5: 104,325,053 (GRCm39)	S472I	unknown	Het
Eftud2	A	G	11: 102,745,640 (GRCm39)	F362L	probably damaging	Het
Egfr	C	T	11: 16,861,607 (GRCm39)	H1129Y	probably benign	Het
Erich3	T	A	3: 154,410,480 (GRCm39)	F112I	possibly damaging	Het
Fam107b	T	C	2: 3,779,580 (GRCm39)	L261S	probably damaging	Het
Fancd2	T	C	6: 113,539,391 (GRCm39)	S239P	probably damaging	Het
Fbp2	C	A	13: 63,002,727 (GRCm39)	Q108H	probably benign	Het
Fcgbpl1	T	A	7: 27,850,147 (GRCm39)	C1198S	probably damaging	Het
Gask1b	G	A	3: 79,843,912 (GRCm39)	R377H	probably damaging	Het
Gipr	C	T	7: 18,896,601 (GRCm39)	R165H	probably damaging	Het
Gje1	C	T	10: 14,593,082 (GRCm39)	G45R	probably null	Het
Gpat2	C	G	2: 127,275,887 (GRCm39)	T555S	probably benign	Het
Grik3	C	A	4: 125,584,969 (GRCm39)	N612K	probably damaging	Het
Iqcb1	A	G	16: 36,655,952 (GRCm39)	E113G	probably benign	Het
Kat8	A	G	7: 127,524,366 (GRCm39)	I415V	probably benign	Het
Kcnk10	A	T	12: 98,401,175 (GRCm39)	M486K	probably benign	Het
Kif21b	C	A	1: 136,072,958 (GRCm39)	H119N	probably damaging	Het
Leng9	T	C	7: 4,152,385 (GRCm39)	D97G	probably damaging	Het
Lrguk	T	C	6: 34,069,802 (GRCm39)	V559A	probably damaging	Het
Lrp1	G	T	10: 127,419,805 (GRCm39)	R935S	probably damaging	Het
Lrrcc1	C	A	3: 14,627,571 (GRCm39)	D503E	probably benign	Het
Mybph	A	T	1: 134,126,233 (GRCm39)	E349V	probably damaging	Het
Myzap	A	G	9: 71,456,037 (GRCm39)	S328P	probably damaging	Het
Nbeal1	T	C	1: 60,292,534 (GRCm39)	L1062P	probably damaging	Het
Nepro	G	A	16: 44,555,160 (GRCm39)	S412N	probably null	Het
Nudt5	T	C	2: 5,869,239 (GRCm39)	V155A	probably benign	Het
Or13a25	A	T	7: 140,247,502 (GRCm39)	I94F	probably damaging	Het
Or4k51	C	G	2: 111,584,679 (GRCm39)	F28L	probably benign	Het
Or5ae2	G	T	7: 84,506,328 (GRCm39)	L250F	probably damaging	Het
Or6ae1	A	G	7: 139,742,602 (GRCm39)	L87P	possibly damaging	Het
Osbpl3	T	A	6: 50,286,356 (GRCm39)	N623I	probably damaging	Het
Pde4dip	T	A	3: 97,700,844 (GRCm39)	H220L	probably damaging	Het
Pde9a	T	A	17: 31,662,135 (GRCm39)		probably null	Het
Pex16	T	G	2: 92,209,544 (GRCm39)		probably null	Het
Pnpla7	A	G	2: 24,870,064 (GRCm39)	T15A	probably benign	Het
Polq	G	T	16: 36,869,145 (GRCm39)		probably null	Het
Ppfia2	C	T	10: 106,690,818 (GRCm39)	T553I	probably benign	Het
Rreb1	G	A	13: 38,100,502 (GRCm39)	C211Y	probably benign	Het
Rundc3b	A	G	5: 8,578,742 (GRCm39)	L222P	probably damaging	Het
Ryr3	T	C	2: 112,478,718 (GRCm39)	N4405S	probably damaging	Het
Sardh	A	G	2: 27,081,967 (GRCm39)	V853A	probably benign	Het
Scfd1	T	C	12: 51,436,109 (GRCm39)	V86A	probably damaging	Het
Scube3	G	A	17: 28,383,097 (GRCm39)	C425Y	probably damaging	Het
Sfta2	T	C	17: 35,960,773 (GRCm39)		probably benign	Het
Sh3d19	T	C	3: 86,031,049 (GRCm39)	Y738H	probably damaging	Het
Shc2	T	C	10: 79,458,295 (GRCm39)	R463G	probably damaging	Het
Slc4a10	T	C	2: 62,087,939 (GRCm39)	V414A	possibly damaging	Het
Slc9a3	G	T	13: 74,313,956 (GRCm39)	D755Y	probably damaging	Het
Snrpb2	C	A	2: 142,910,237 (GRCm39)	F98L	possibly damaging	Het
Socs7	T	A	11: 97,267,829 (GRCm39)	I320N	possibly damaging	Het
Speer2	A	T	16: 69,654,988 (GRCm39)	M159K	probably benign	Het
Sppl2c	A	C	11: 104,078,478 (GRCm39)	H426P	probably benign	Het
Stxbp5	C	A	10: 9,638,635 (GRCm39)	V1055L	probably benign	Het
Synpo	A	T	18: 60,736,684 (GRCm39)	S421T	probably damaging	Het
Taf6l	A	G	19: 8,759,770 (GRCm39)	V135A	possibly damaging	Het
Tafa5	C	T	15: 87,509,637 (GRCm39)		probably benign	Het
Trim58	G	A	11: 58,542,150 (GRCm39)	G370E	probably damaging	Het
Tshz2	T	A	2: 169,728,167 (GRCm39)	I452N	probably damaging	Het
Ttc41	C	T	10: 86,566,989 (GRCm39)	R552C	probably benign	Het
Vit	T	C	17: 78,909,308 (GRCm39)	S252P	probably benign	Het
Vmn1r173	A	T	7: 23,402,361 (GRCm39)	I199F	probably damaging	Het
Vmn2r114	T	A	17: 23,529,336 (GRCm39)	R255S	probably benign	Het
Vmn2r17	A	G	5: 109,582,246 (GRCm39)	N545S	probably damaging	Het
Zbtb44	T	G	9: 30,964,701 (GRCm39)	V37G	probably damaging	Het
Zfp865	A	G	7: 5,034,640 (GRCm39)	Y875C	probably damaging	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
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
R5874:Ecel1	UTSW	1	87,075,731 (GRCm39)	missense	probably benign	0.24
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'- CATTCACCAGGTCTGAGAACAC -3'
(R):5'- TTCTGGGAAGGAAAGAGCCC -3'

Sequencing Primer
(F):5'- ACACTCACATGGGGGATGATCTTC -3'
(R):5'- AGCCCCAGAAGGAGGGTC -3'

Posted On

2017-04-14