Mutagenetix > Incidental Mutation

Incidental Mutation 'R6351:Ecel1'

514207

Institutional Source

Beutler Lab

Gene Symbol

Ecel1

Ensembl Gene

ENSMUSG00000026247

Gene Name

endothelin converting enzyme-like 1

Synonyms

XCE, DINE

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87147655-87156521 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87149509 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 659 (V659A)

Ref Sequence

ENSEMBL: ENSMUSP00000125096 (fasta)

Gene Model

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

AlphaFold

Q9JMI0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027463
AA Change: V659A

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000027463
Gene: ENSMUSG00000026247
AA Change: V659A

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: V659A

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125557
Gene: ENSMUSG00000026247
AA Change: V659A

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: V659A

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125096
Gene: ENSMUSG00000026247
AA Change: V659A

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

99% (95/96)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025F22Rik	C	T	19: 11,142,401	G14D	probably damaging	Het
4932438A13Rik	G	A	3: 36,908,228	A493T	probably damaging	Het
Acaa1a	C	A	9: 119,341,564	S17*	probably null	Het
Adamts16	T	A	13: 70,836,203	S114C	probably damaging	Het
Agpat5	T	C	8: 18,846,708	V50A	probably benign	Het
Agrn	T	C	4: 156,179,434	N124S	probably benign	Het
AI481877	T	C	4: 59,069,317	D703G	probably benign	Het
Ak8	T	C	2: 28,735,626	I227T	probably benign	Het
Akap6	A	G	12: 53,142,025	E2074G	probably damaging	Het
Apc	T	A	18: 34,312,212	S702R	probably damaging	Het
Ascc3	T	C	10: 50,720,673	I1233T	probably damaging	Het
Asphd2	A	T	5: 112,385,832	F318I	probably damaging	Het
Bnc2	T	C	4: 84,293,143	T397A	probably benign	Het
Bpifb4	C	T	2: 153,957,134	T528I	probably damaging	Het
Brinp3	A	G	1: 146,901,585	E590G	probably damaging	Het
Ccdc149	A	G	5: 52,385,135	S372P	probably benign	Het
Cdhr2	A	G	13: 54,726,776	H887R	probably benign	Het
Clcn6	C	T	4: 148,017,500	V376I	probably benign	Het
Cntln	T	G	4: 85,115,354	C1305W	probably damaging	Het
Cspg4	A	G	9: 56,892,644	D1564G	probably benign	Het
Cux1	A	T	5: 136,309,792	S582T	probably damaging	Het
Cwh43	G	A	5: 73,411,905	A97T	possibly damaging	Het
Dsc1	A	T	18: 20,086,769	F781L	probably damaging	Het
Dsc3	G	T	18: 19,966,291	H723N	probably benign	Het
Ear10	A	T	14: 43,923,055	V105D	probably damaging	Het
Eogt	A	T	6: 97,120,194	F316I	probably damaging	Het
Etaa1	T	C	11: 17,947,188	N310D	possibly damaging	Het
Exoc3l2	G	A	7: 19,469,708	R75Q	possibly damaging	Het
Fam186a	A	C	15: 99,941,742	L2207R	probably damaging	Het
Fam187b	T	C	7: 30,977,599	Y178H	probably damaging	Het
Fat1	A	T	8: 45,033,495	Q3362L	probably damaging	Het
Fat3	A	T	9: 15,938,398	S3903T	probably damaging	Het
Fsip2	G	A	2: 82,992,684	V6254I	possibly damaging	Het
Gabra5	T	C	7: 57,413,780	T299A	probably damaging	Het
Gbp11	T	C	5: 105,327,598	T295A	probably benign	Het
Glcci1	C	T	6: 8,573,203	Q44*	probably null	Het
Gpc5	A	T	14: 115,399,200	T432S	probably benign	Het
Grhl1	G	A	12: 24,584,858	E228K	probably damaging	Het
Hyal5	T	C	6: 24,891,709		probably null	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ints9	A	G	14: 64,993,007	I128V	probably damaging	Het
Kcnt2	A	T	1: 140,375,112	N130I	probably damaging	Het
Krba1	T	C	6: 48,414,128	V717A	probably benign	Het
Lrp12	T	A	15: 39,878,188	D377V	probably damaging	Het
Magi1	G	T	6: 93,943,229	D135E	possibly damaging	Het
Map10	T	A	8: 125,671,245	L459Q	probably damaging	Het
Mitf	A	G	6: 98,003,912	D238G	possibly damaging	Het
Mylk	G	T	16: 34,921,971	R951L	probably benign	Het
Nacad	T	A	11: 6,599,235	D1272V	probably damaging	Het
Nacad	T	A	11: 6,600,165	K1009*	probably null	Het
Ncor1	T	C	11: 62,373,298	D786G	probably benign	Het
Oas2	G	A	5: 120,748,538	R188C	probably benign	Het
Odf2l	A	G	3: 145,135,718	I300V	probably benign	Het
Olfr1502	A	G	19: 13,861,822	T10A	probably benign	Het
Olfr338	T	A	2: 36,377,196	V140D	possibly damaging	Het
Olfr484	A	G	7: 108,124,430	S278P	probably damaging	Het
Olfr624	A	G	7: 103,670,956	I25T	possibly damaging	Het
Olfr64	A	T	7: 103,893,135	L200*	probably null	Het
Pes1	T	A	11: 3,978,865	D574E	probably benign	Het
Phf20	C	T	2: 156,294,210	R650C	possibly damaging	Het
Pias4	G	A	10: 81,157,264	T248I	probably damaging	Het
Pkhd1	T	C	1: 20,211,951	T2889A	probably benign	Het
Plcxd1	C	A	5: 110,102,167		probably null	Het
Plekha7	A	G	7: 116,176,898	F194L	probably damaging	Het
Plxnb2	T	C	15: 89,157,770	N1642S	possibly damaging	Het
Pnpla7	A	T	2: 25,011,564	D534V	probably damaging	Het
Ppp2r5c	A	T	12: 110,554,879	S279C	probably damaging	Het
Ptprq	T	A	10: 107,708,668	T334S	probably damaging	Het
Rab39	T	C	9: 53,686,521	D148G	probably benign	Het
Reep3	A	T	10: 67,034,653	F121L	probably benign	Het
Reln	G	T	5: 21,901,663	C3236*	probably null	Het
Rrp8	C	T	7: 105,734,809	C162Y	probably damaging	Het
Scrib	C	A	15: 76,064,986	Q399H	possibly damaging	Het
Sertad1	T	A	7: 27,489,799	Y182N	possibly damaging	Het
Sfrp5	A	G	19: 42,201,824	V63A	possibly damaging	Het
Slc46a1	T	C	11: 78,467,159	M346T	probably benign	Het
Sycp2	A	G	2: 178,363,416	L886S	probably damaging	Het
Teddm1b	A	T	1: 153,874,759	I105F	probably benign	Het
Thumpd1	A	T	7: 119,720,605	I46N	possibly damaging	Het
Tmod4	A	G	3: 95,127,853	N223S	probably damaging	Het
Tnfrsf10b	G	C	14: 69,773,401	C85S	probably damaging	Het
Tox	T	C	4: 6,697,439	T455A	probably benign	Het
Tox	T	C	4: 6,741,536	Q148R	probably benign	Het
Trp53bp1	A	C	2: 121,269,945	S109R	probably damaging	Het
Tshz2	A	T	2: 169,884,968	T26S	probably benign	Het
Tubb4a	T	A	17: 57,081,016	N337Y	probably damaging	Het
Tubb6	T	A	18: 67,401,388	V119E	probably damaging	Het
Unk	C	T	11: 116,054,946	T481I	probably benign	Het
Vmn2r112	C	T	17: 22,601,278	T44I	probably benign	Het
Vstm5	G	A	9: 15,257,533	G131D	probably damaging	Het
Wscd1	T	C	11: 71,759,883	L12P	probably damaging	Het
Zfp369	T	A	13: 65,296,230	S396T	possibly damaging	Het
Zfp932	T	A	5: 110,009,343	C302*	probably null	Het
Zfp972	A	T	2: 177,906,935		probably null	Het
Zfyve21	C	A	12: 111,827,594	A212E	probably benign	Het

Other mutations in Ecel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Ecel1	APN	1	87153193	missense	possibly damaging	0.84
IGL01431:Ecel1	APN	1	87151504	missense	probably damaging	0.99
IGL01992:Ecel1	APN	1	87149855	splice site	probably benign
IGL02040:Ecel1	APN	1	87154923	missense	probably benign	0.32
IGL02230:Ecel1	APN	1	87152194	missense	probably damaging	1.00
IGL02801:Ecel1	APN	1	87152003	missense	probably damaging	1.00
Capulin	UTSW	1	87153301	missense	probably damaging	0.99
R0139:Ecel1	UTSW	1	87154526	missense	possibly damaging	0.95
R1723:Ecel1	UTSW	1	87154421	missense	probably benign	0.37
R2118:Ecel1	UTSW	1	87148275	missense	probably damaging	1.00
R2119:Ecel1	UTSW	1	87148275	missense	probably damaging	1.00
R2120:Ecel1	UTSW	1	87148275	missense	probably damaging	1.00
R2122:Ecel1	UTSW	1	87148275	missense	probably damaging	1.00
R3815:Ecel1	UTSW	1	87152900	missense	probably damaging	0.97
R3836:Ecel1	UTSW	1	87150656	missense	probably damaging	1.00
R4211:Ecel1	UTSW	1	87152150	missense	probably damaging	1.00
R4685:Ecel1	UTSW	1	87152946	splice site	probably null
R4841:Ecel1	UTSW	1	87153301	missense	probably damaging	0.99
R4842:Ecel1	UTSW	1	87153301	missense	probably damaging	0.99
R4888:Ecel1	UTSW	1	87148727	splice site	probably benign
R4976:Ecel1	UTSW	1	87151139	missense	probably benign	0.17
R5032:Ecel1	UTSW	1	87154253	missense	probably damaging	0.97
R5119:Ecel1	UTSW	1	87151139	missense	probably benign	0.17
R5393:Ecel1	UTSW	1	87152876	missense	possibly damaging	0.95
R5798:Ecel1	UTSW	1	87151483	missense	probably damaging	1.00
R5862:Ecel1	UTSW	1	87149596	missense	probably benign	0.19
R5874:Ecel1	UTSW	1	87148009	missense	probably benign	0.24
R6341:Ecel1	UTSW	1	87150471	splice site	probably null
R6534:Ecel1	UTSW	1	87154842	missense	probably benign	0.13
R7405:Ecel1	UTSW	1	87153516	critical splice donor site	probably null
R7422:Ecel1	UTSW	1	87149612	missense	probably damaging	1.00
R7850:Ecel1	UTSW	1	87152023	missense	probably damaging	1.00
R7939:Ecel1	UTSW	1	87149534	missense	probably benign	0.19
R7950:Ecel1	UTSW	1	87148269	missense	probably damaging	0.98
R8022:Ecel1	UTSW	1	87153330	missense	probably benign	0.34
R8856:Ecel1	UTSW	1	87152038	missense	probably damaging	1.00
R8954:Ecel1	UTSW	1	87148627	nonsense	probably null
R8967:Ecel1	UTSW	1	87151140	missense	probably damaging	0.98
R9248:Ecel1	UTSW	1	87153390	missense	probably benign	0.00
R9395:Ecel1	UTSW	1	87154628	missense	probably damaging	0.99
R9487:Ecel1	UTSW	1	87147994	missense	probably damaging	1.00
R9620:Ecel1	UTSW	1	87153131	missense	possibly damaging	0.65
R9676:Ecel1	UTSW	1	87152021	missense	probably damaging	1.00
R9694:Ecel1	UTSW	1	87153131	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- TTCCCGGGGAATTCAGGAGAAG -3'
(R):5'- TGACCCATGGCTATGACGAC -3'

Sequencing Primer
(F):5'- GGAGAAGCCTTTCCCTCCC -3'
(R):5'- CATGGCTATGACGACTGGGG -3'

Posted On

2018-04-27