Mutagenetix > Incidental Mutation

Incidental Mutation 'R9487:Ecel1'

716635

Institutional Source

Beutler Lab

Gene Symbol

Ecel1

Ensembl Gene

ENSMUSG00000026247

Gene Name

endothelin converting enzyme-like 1

Synonyms

XCE, DINE

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9487 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87075377-87084243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87075716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 774 (V774E)

Ref Sequence

ENSEMBL: ENSMUSP00000027463 (fasta)

Gene Model

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

AlphaFold

Q9JMI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000027463
AA Change: V774E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027463
Gene: ENSMUSG00000026247
AA Change: V774E

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: V774E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125557
Gene: ENSMUSG00000026247
AA Change: V774E

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: V774E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125096
Gene: ENSMUSG00000026247
AA Change: V774E

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: 99.9%
10x: 99.6%
20x: 98.9%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	C	T	1: 53,221,665 (GRCm39)	D55N	possibly damaging	Het
Abcc2	G	A	19: 43,806,471 (GRCm39)	G762S	probably damaging	Het
Acta2	C	A	19: 34,225,865 (GRCm39)	A110S	probably damaging	Het
Adam26a	T	C	8: 44,022,456 (GRCm39)	T345A	possibly damaging	Het
Anapc11	T	C	11: 120,496,250 (GRCm39)	*85R	probably null	Het
Ang2	A	C	14: 51,433,071 (GRCm39)	C104G	probably damaging	Het
Ankzf1	G	A	1: 75,174,596 (GRCm39)	V529I	probably benign	Het
Aox4	G	T	1: 58,288,097 (GRCm39)	V737F	probably benign	Het
Aqr	T	C	2: 113,934,528 (GRCm39)	N1371S	probably benign	Het
Bach1	T	A	16: 87,526,733 (GRCm39)	S732T	probably benign	Het
Bcr	T	A	10: 74,967,431 (GRCm39)	I555N	probably damaging	Het
Bicra	T	C	7: 15,705,717 (GRCm39)	T1575A	probably damaging	Het
Bop1	A	G	15: 76,338,076 (GRCm39)	L598P	probably damaging	Het
Cacna1d	A	T	14: 29,845,419 (GRCm39)	F605L	possibly damaging	Het
Capn15	C	T	17: 26,184,353 (GRCm39)	V109I	possibly damaging	Het
Cdkn1b	T	C	6: 134,897,815 (GRCm39)		probably benign	Het
Dnah2	T	C	11: 69,406,617 (GRCm39)	T542A	possibly damaging	Het
Dsc2	A	T	18: 20,180,276 (GRCm39)	I159N	probably damaging	Het
Eif5b	T	G	1: 38,084,560 (GRCm39)	C849W	probably damaging	Het
Eif5b	T	A	1: 38,058,451 (GRCm39)	L251*	probably null	Het
Ext2	T	C	2: 93,592,956 (GRCm39)	D416G	probably damaging	Het
Fancm	G	A	12: 65,153,388 (GRCm39)	W1281*	probably null	Het
Flvcr1	A	T	1: 190,743,829 (GRCm39)	I409K	possibly damaging	Het
Foxk1	T	C	5: 142,437,389 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,560,905 (GRCm39)	I1201F	possibly damaging	Het
Gabra5	A	G	7: 57,157,873 (GRCm39)		probably benign	Het
Gmpr2	G	A	14: 55,915,778 (GRCm39)	V319I	probably damaging	Het
Gna12	A	T	5: 140,746,338 (GRCm39)	L369Q	probably damaging	Het
Gpr160	A	G	3: 30,950,914 (GRCm39)	R329G	probably benign	Het
H2-M10.3	T	C	17: 36,677,423 (GRCm39)	H285R	probably benign	Het
H2-M2	A	T	17: 37,793,424 (GRCm39)	V194E	probably benign	Het
Hephl1	G	A	9: 14,995,830 (GRCm39)	R431W	possibly damaging	Het
Hr	A	G	14: 70,793,877 (GRCm39)	T46A	probably benign	Het
Hr	A	G	14: 70,794,205 (GRCm39)	H126R	possibly damaging	Het
Hsf1	T	G	15: 76,382,398 (GRCm39)	D256E	probably benign	Het
Ifi208	C	T	1: 173,510,961 (GRCm39)	T372I	probably damaging	Het
Ifi47	T	G	11: 48,986,620 (GRCm39)	F129C	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Irag2	A	G	6: 145,120,257 (GRCm39)	I491V	probably benign	Het
Itga11	A	T	9: 62,670,171 (GRCm39)	N765I	probably benign	Het
Klhl22	T	A	16: 17,589,663 (GRCm39)	I108K	probably benign	Het
Lancl1	T	G	1: 67,073,381 (GRCm39)	H34P	probably benign	Het
Lcor	C	A	19: 41,573,685 (GRCm39)	N813K	probably damaging	Het
Mbd3l1	G	A	9: 18,396,274 (GRCm39)	G133D	probably benign	Het
Med12l	T	C	3: 59,155,353 (GRCm39)	F1178L	probably benign	Het
Mrm1	A	T	11: 84,705,531 (GRCm39)	N289K	probably damaging	Het
Myf6	A	G	10: 107,330,073 (GRCm39)	Y165H	probably benign	Het
Myo1g	C	A	11: 6,456,913 (GRCm39)	C971F	probably benign	Het
Myo3a	T	C	2: 22,245,862 (GRCm39)	M3T	probably benign	Het
Nsrp1	G	A	11: 76,937,114 (GRCm39)	R361*	probably null	Het
Or10d4	A	C	9: 39,580,611 (GRCm39)	Q86P	possibly damaging	Het
Or10h1b	C	A	17: 33,395,548 (GRCm39)	H57Q	possibly damaging	Het
Or4a69	T	C	2: 89,312,756 (GRCm39)	H241R	probably damaging	Het
Or4a77	T	C	2: 89,487,731 (GRCm39)	D18G	probably damaging	Het
Or5p6	A	T	7: 107,631,163 (GRCm39)	I129N	possibly damaging	Het
Or8b41	G	A	9: 38,054,866 (GRCm39)	C140Y	probably benign	Het
Or8k53	T	A	2: 86,177,846 (GRCm39)	D88V	probably benign	Het
Oscar	T	G	7: 3,614,663 (GRCm39)	Y103S	probably damaging	Het
Pdpr	A	G	8: 111,852,925 (GRCm39)	N610S	probably benign	Het
Ppp4r3b	T	C	11: 29,124,697 (GRCm39)	I56T	probably damaging	Het
Pxdn	T	A	12: 30,044,552 (GRCm39)	V510D	possibly damaging	Het
Rab11fip5	T	C	6: 85,324,913 (GRCm39)	S465G	possibly damaging	Het
Rasgrf2	T	C	13: 92,267,759 (GRCm39)	T82A	probably benign	Het
Scmh1	G	A	4: 120,320,284 (GRCm39)	W30*	probably null	Het
Sema4g	T	C	19: 44,981,071 (GRCm39)	Y40H	probably benign	Het
Serpinf2	A	T	11: 75,323,494 (GRCm39)	M404K	probably damaging	Het
Sgk3	T	C	1: 9,950,616 (GRCm39)		probably null	Het
Slc16a5	A	T	11: 115,360,738 (GRCm39)	Y307F	possibly damaging	Het
Slc39a5	G	A	10: 128,233,628 (GRCm39)	L290F	probably damaging	Het
Snx32	A	C	19: 5,547,736 (GRCm39)	D191E	probably damaging	Het
Sp4	T	C	12: 118,262,859 (GRCm39)	I396V	probably benign	Het
Srrd	A	G	5: 112,490,765 (GRCm39)	V42A	unknown	Het
Stim1	A	G	7: 102,080,257 (GRCm39)	H547R	unknown	Het
Svep1	G	A	4: 58,070,517 (GRCm39)	A2423V	probably benign	Het
Tep1	A	G	14: 51,066,687 (GRCm39)	S2304P	possibly damaging	Het
Tkt	C	G	14: 30,281,795 (GRCm39)	S104R	probably benign	Het
Tkt	T	C	14: 30,281,796 (GRCm39)	S105P	probably damaging	Het
Tln1	A	T	4: 43,542,893 (GRCm39)	N1365K	probably damaging	Het
Topaz1	G	T	9: 122,604,707 (GRCm39)	A1104S	probably benign	Het
Trmt2a	A	G	16: 18,068,814 (GRCm39)	H270R	probably damaging	Het
Ttll10	G	T	4: 156,127,616 (GRCm39)	T389K	probably benign	Het
Tubal3	A	G	13: 3,980,674 (GRCm39)	I129V	probably benign	Het
Ucp3	A	G	7: 100,131,123 (GRCm39)	E192G	probably damaging	Het
Usp47	A	G	7: 111,677,063 (GRCm39)	D448G	probably damaging	Het
Vmn2r98	T	A	17: 19,301,496 (GRCm39)	L833M	possibly damaging	Het
Vps13d	A	G	4: 144,807,869 (GRCm39)		probably null	Het
Wdr7	A	G	18: 63,910,939 (GRCm39)	D777G	possibly damaging	Het
Zcchc8	A	G	5: 123,847,300 (GRCm39)	I213T	probably damaging	Het
Zfp281	T	C	1: 136,555,143 (GRCm39)	I707T	probably damaging	Het
Zfp335	T	C	2: 164,735,395 (GRCm39)	H1158R	probably damaging	Het
Zfp692	C	T	11: 58,199,765 (GRCm39)	T118M	probably damaging	Het
Zfr2	T	A	10: 81,075,969 (GRCm39)	L192Q	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
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
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'- AGGCCCTCGCTTAAGTGAAG -3'
(R):5'- ACTACCGGTAGGCTCATCTG -3'

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

Posted On

2022-07-18