Mutagenetix > Incidental Mutation

Incidental Mutation 'R9620:Ecel1'

724689

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 #

R9620 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87075377-87084243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87080853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 350 (I350V)

Ref Sequence

ENSEMBL: ENSMUSP00000027463 (fasta)

Gene Model

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

AlphaFold

Q9JMI0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027463
AA Change: I350V

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000027463
Gene: ENSMUSG00000026247
AA Change: I350V

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

possibly damaging
Transcript: ENSMUST00000160810
AA Change: I350V

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125557
Gene: ENSMUSG00000026247
AA Change: I350V

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

possibly damaging
Transcript: ENSMUST00000161002
AA Change: I350V

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125096
Gene: ENSMUSG00000026247
AA Change: I350V

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: 99.7%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	G	T	18: 10,704,605 (GRCm39)	T151K	possibly damaging	Het
Acsf2	C	T	11: 94,463,412 (GRCm39)	W130*	probably null	Het
Aldh16a1	G	A	7: 44,797,413 (GRCm39)	R132*	probably null	Het
Amer3	C	T	1: 34,628,043 (GRCm39)	P761S	probably benign	Het
Amotl1	G	T	9: 14,459,969 (GRCm39)	D886E	probably damaging	Het
Cacna1s	T	C	1: 136,035,909 (GRCm39)	F1383S	probably damaging	Het
Col14a1	T	A	15: 55,225,781 (GRCm39)	V148E	unknown	Het
Col9a2	T	A	4: 120,910,403 (GRCm39)		probably null	Het
Cyp2a5	T	A	7: 26,536,636 (GRCm39)	M205K	possibly damaging	Het
Dcst2	A	T	3: 89,277,825 (GRCm39)	Q466L	possibly damaging	Het
Enthd1	G	A	15: 80,336,901 (GRCm39)	T511I	probably benign	Het
Exoc6b	T	A	6: 84,988,302 (GRCm39)	K92*	probably null	Het
Fam181a	T	G	12: 103,282,591 (GRCm39)	Y165*	probably null	Het
Fbxo34	A	G	14: 47,768,725 (GRCm39)	Y746C	probably damaging	Het
Fgfr4	T	A	13: 55,308,994 (GRCm39)	S372T	possibly damaging	Het
Fmo1	A	G	1: 162,661,390 (GRCm39)	F298L	probably benign	Het
Gad1	A	C	2: 70,404,620 (GRCm39)	D170A	possibly damaging	Het
Garin2	A	C	12: 78,762,077 (GRCm39)	D247A	probably damaging	Het
Golgb1	T	C	16: 36,739,811 (GRCm39)	S2758P	probably benign	Het
Golm2	T	C	2: 121,737,242 (GRCm39)	V261A	probably benign	Het
H2az2	A	T	11: 6,379,094 (GRCm39)		probably null	Het
Ilkap	A	G	1: 91,303,973 (GRCm39)	C163R		Het
Krt9	A	T	11: 100,079,186 (GRCm39)	D735E	unknown	Het
Lipo3	A	T	19: 33,559,629 (GRCm39)	C80*	probably null	Het
Lpcat3	C	T	6: 124,680,543 (GRCm39)	P478L	probably damaging	Het
Luc7l3	G	A	11: 94,212,545 (GRCm39)	R24C	unknown	Het
Mafa	T	A	15: 75,619,161 (GRCm39)	H204L	probably benign	Het
Mapk10	A	C	5: 103,114,473 (GRCm39)	V305G	probably damaging	Het
Mgat1	T	C	11: 49,152,122 (GRCm39)	F202L	probably benign	Het
Mical2	A	T	7: 111,980,403 (GRCm39)	T126S	probably benign	Het
Mill1	G	A	7: 17,997,027 (GRCm39)	R206H	probably benign	Het
Nlrc5	A	T	8: 95,203,034 (GRCm39)	Y378F	probably benign	Het
Nlrp9a	G	T	7: 26,250,469 (GRCm39)	R78L	probably damaging	Het
Or10b1	G	T	10: 78,356,128 (GRCm39)	A229S	probably benign	Het
Or52i2	A	T	7: 102,320,011 (GRCm39)	I295F	possibly damaging	Het
Or8g50	A	T	9: 39,648,287 (GRCm39)	M59L		Het
Orc6	A	T	8: 86,026,430 (GRCm39)		probably benign	Het
Pate14	A	G	9: 36,548,498 (GRCm39)		probably null	Het
Pcdhgb5	C	T	18: 37,864,486 (GRCm39)	Q94*	probably null	Het
Pcnx1	A	G	12: 81,996,960 (GRCm39)	D952G	probably damaging	Het
Ppfia2	A	T	10: 106,749,519 (GRCm39)	H1135L		Het
Prmt2	A	T	10: 76,061,213 (GRCm39)	I91N	probably damaging	Het
Ptprm	A	G	17: 67,116,484 (GRCm39)	Y932H	probably damaging	Het
Qrich2	T	C	11: 116,337,946 (GRCm39)	K154R	probably damaging	Het
Rapgef4	A	G	2: 72,036,051 (GRCm39)	T515A	probably benign	Het
Rgmb	G	A	17: 16,041,279 (GRCm39)	R103*	probably null	Het
Ripk1	T	G	13: 34,210,806 (GRCm39)	S334A	possibly damaging	Het
Rnf5	C	T	17: 34,820,721 (GRCm39)	G147S	possibly damaging	Het
Ryr1	T	C	7: 28,715,138 (GRCm39)	Y4662C	unknown	Het
Secisbp2l	A	G	2: 125,589,394 (GRCm39)	M718T	probably damaging	Het
Slc16a6	T	C	11: 109,354,322 (GRCm39)	T100A	probably benign	Het
Slc27a6	T	A	18: 58,742,887 (GRCm39)	M525K	probably damaging	Het
Slco2a1	G	C	9: 102,962,065 (GRCm39)	C579S	probably damaging	Het
Snx14	A	G	9: 88,263,794 (GRCm39)	S864P	probably damaging	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Sptbn2	T	C	19: 4,800,535 (GRCm39)	L2250P	probably damaging	Het
Tlr6	A	T	5: 65,112,146 (GRCm39)	S254T	possibly damaging	Het
Trap1	A	T	16: 3,858,083 (GRCm39)	Y675*	probably null	Het
Ttc9b	C	A	7: 27,353,512 (GRCm39)	A54E	probably damaging	Het
Unc45a	A	C	7: 79,975,403 (GRCm39)	Y934D	probably damaging	Het
Usp17ld	A	G	7: 102,900,179 (GRCm39)	L251P	possibly damaging	Het
Usp42	A	G	5: 143,703,154 (GRCm39)	V489A	probably damaging	Het
Vars1	A	G	17: 35,235,001 (GRCm39)	T1277A	unknown	Het
Vmn2r117	A	G	17: 23,697,450 (GRCm39)	S81P	probably damaging	Het
Vmn2r69	T	A	7: 85,061,504 (GRCm39)	I157F	probably benign	Het
Zfp697	A	G	3: 98,335,182 (GRCm39)	S316G	probably damaging	Het
Zfp729b	T	A	13: 67,739,787 (GRCm39)	H826L	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
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
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'- GATCTGATCCAGCAGCCACTTC -3'
(R):5'- AACAGAGGCTGGCCAATGTG -3'

Sequencing Primer
(F):5'- CACTGCAACTGTGGAGCCAAG -3'
(R):5'- GCTGGCCAATGTGAGCAG -3'

Posted On

2022-09-12