Mutagenetix > Incidental Mutation

Incidental Mutation 'R2119:Ecel1'

231252

Institutional Source

Beutler Lab

Gene Symbol

Ecel1

Ensembl Gene

ENSMUSG00000026247

Gene Name

endothelin converting enzyme-like 1

Synonyms

XCE, DINE

MMRRC Submission

040123-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2119 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87075377-87084243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87075997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 727 (S727P)

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: S727P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027463
Gene: ENSMUSG00000026247
AA Change: S727P

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 damaging
Transcript: ENSMUST00000160810
AA Change: S727P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125557
Gene: ENSMUSG00000026247
AA Change: S727P

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: S727P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125096
Gene: ENSMUSG00000026247
AA Change: S727P

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

0.6283

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Actbl2	G	A	13: 111,391,694 (GRCm39)	V10I	probably benign	Het
Adamts12	C	T	15: 11,310,665 (GRCm39)	T974I	probably damaging	Het
Aifm2	G	A	10: 61,571,383 (GRCm39)	V306M	possibly damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Atxn7l3	C	A	11: 102,182,807 (GRCm39)	R278L	possibly damaging	Het
Bcl9	A	G	3: 97,116,231 (GRCm39)	L821P	probably benign	Het
Cdh19	C	T	1: 110,847,320 (GRCm39)	V430I	probably benign	Het
Clns1a	T	A	7: 97,363,111 (GRCm39)		probably null	Het
Col3a1	T	A	1: 45,385,281 (GRCm39)	C133S	probably damaging	Het
Csmd1	G	A	8: 17,266,749 (GRCm39)	T59I	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Cyp2j8	A	T	4: 96,395,438 (GRCm39)	D62E	probably benign	Het
Dcbld1	A	T	10: 52,196,075 (GRCm39)	M428L	probably benign	Het
Dhx32	A	T	7: 133,323,976 (GRCm39)	Y523*	probably null	Het
Dlgap2	C	T	8: 14,828,206 (GRCm39)	A538V	possibly damaging	Het
Dlgap3	T	C	4: 127,129,982 (GRCm39)	S919P	probably benign	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dsc1	A	T	18: 20,243,209 (GRCm39)	H81Q	probably benign	Het
Dusp8	A	T	7: 141,636,298 (GRCm39)	S431T	possibly damaging	Het
Dync1i1	A	T	6: 5,767,096 (GRCm39)	T59S	probably damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Eef1d	G	T	15: 75,775,062 (GRCm39)	A199E	probably benign	Het
Eml3	T	A	19: 8,911,718 (GRCm39)		probably null	Het
Enah	G	T	1: 181,749,318 (GRCm39)	A138E	probably damaging	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Gba1	A	T	3: 89,112,868 (GRCm39)	E170V	probably benign	Het
Hdac1	C	T	4: 129,416,157 (GRCm39)	R212Q	probably benign	Het
Heatr1	T	A	13: 12,447,527 (GRCm39)	L1740Q	probably null	Het
Inhbb	T	A	1: 119,348,431 (GRCm39)	H129L	probably benign	Het
Inpp5b	T	A	4: 124,691,662 (GRCm39)	H862Q	probably benign	Het
Itsn2	C	A	12: 4,757,025 (GRCm39)	R1372S	probably benign	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Klk1b21	A	T	7: 43,755,193 (GRCm39)	T163S	probably benign	Het
Lmo3	A	T	6: 138,393,492 (GRCm39)	C43S	probably damaging	Het
Metrn	C	T	17: 26,014,197 (GRCm39)	V210I	probably benign	Het
Ndufaf7	A	T	17: 79,252,442 (GRCm39)	I284F	possibly damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Or10a5	A	G	7: 106,635,938 (GRCm39)	D192G	probably damaging	Het
Osbpl7	T	C	11: 96,946,905 (GRCm39)	S403P	probably benign	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reln	T	A	5: 22,223,998 (GRCm39)	E917V	probably damaging	Het
Rfc4	A	T	16: 22,943,314 (GRCm39)	V61E	probably damaging	Het
Rnf112	C	T	11: 61,341,854 (GRCm39)	V317I	possibly damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Rtn4ip1	A	G	10: 43,811,993 (GRCm39)		probably null	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Serhl	A	G	15: 82,999,776 (GRCm39)	Q252R	probably benign	Het
Sestd1	T	C	2: 77,042,867 (GRCm39)	D229G	probably benign	Het
Slc35g1	T	C	19: 38,391,735 (GRCm39)	V339A	probably benign	Het
Slc9b2	T	A	3: 135,034,743 (GRCm39)		probably null	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tep1	T	G	14: 51,076,443 (GRCm39)	K1664Q	probably benign	Het
Tmod2	T	C	9: 75,493,377 (GRCm39)	K193E	possibly damaging	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Ttc5	A	T	14: 51,012,822 (GRCm39)	Y189N	probably damaging	Het
Ugt2a3	A	T	5: 87,484,430 (GRCm39)	M198K	probably damaging	Het
Uox	A	G	3: 146,318,297 (GRCm39)	H66R	probably benign	Het
Usp9y	A	T	Y: 1,303,451 (GRCm39)	D2487E	probably benign	Het
Vnn3	G	A	10: 23,740,311 (GRCm39)	G205R	probably damaging	Het
Vps11	T	C	9: 44,260,294 (GRCm39)	D856G	probably benign	Het
Zdhhc17	T	C	10: 110,817,909 (GRCm39)	N90D	possibly damaging	Het
Zfp105	T	A	9: 122,758,743 (GRCm39)	L138*	probably null	Het
Zfp28	A	G	7: 6,397,875 (GRCm39)	Y770C	probably benign	Het
Zfp655	T	A	5: 145,181,594 (GRCm39)	L484Q	probably damaging	Het
Zfp868	C	A	8: 70,064,646 (GRCm39)	E230*	probably null	Het
Zfpm2	A	G	15: 40,966,419 (GRCm39)	Y836C	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
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
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'- TCAGCAGTGTGGGCTTTAC -3'
(R):5'- TCACATGAGCATCTCCAGGG -3'

Sequencing Primer
(F):5'- ACTGGCCACCCTGTCAC -3'
(R):5'- TGAGCATCTCCAGGGCTCAG -3'

Posted On

2014-09-18