Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01092:Edn1'

52558

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Edn1

Ensembl Gene

ENSMUSG00000021367

Gene Name

endothelin 1

Synonyms

ET-1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01092

Quality Score

Status

Chromosome

Chromosomal Location

42301476-42307990 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42303671 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 60 (D60G)

Ref Sequence

ENSEMBL: ENSMUSP00000021796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021796]

Predicted Effect

probably damaging
Transcript: ENSMUST00000021796
AA Change: D60G

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

SMART Domains

Protein: ENSMUSP00000021796
Gene: ENSMUSG00000021367
AA Change: D60G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
END	52	73	4.45e-11	SMART
low complexity region	84	99	N/A	INTRINSIC
END	109	130	1.95e-7	SMART
low complexity region	143	156	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221433

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the endothelin family of peptides. The encoded preproprotein undergoes proteolytic processing to generate a peptide before secretion by the vascular endothelial cells. The mature peptide has various biological activities such as vasoconstriction, cell proliferation, stimulation of hormone release and modulation of central nervous activity. Mice lacking the encoded protein exhibit neonatal lethality accompanied with numerous craniofacial and cardiovascular defects due to disruption in cranial and cardiac neural crest cell patterning during early embryogenesis. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit cardiovascular malformations, craniofacial abnormalities, and lethality due to respiratory failure at birth. Heterozygotes develop elevated arterial blood pressure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap33	T	C	7: 30,529,946	R335G	probably damaging	Het
Atad2b	C	T	12: 5,017,987	S995L	probably damaging	Het
Atrn	A	T	2: 130,947,636	R340*	probably null	Het
Ccdc83	A	T	7: 90,247,105	D85E	probably benign	Het
Chd2	A	T	7: 73,441,686	H1602Q	possibly damaging	Het
Cog2	A	G	8: 124,545,280	D511G	probably damaging	Het
Col4a4	G	T	1: 82,466,545	P1334T	unknown	Het
Creb3l4	T	C	3: 90,237,738	E369G	probably damaging	Het
Crnkl1	T	C	2: 145,919,948	K563R	probably benign	Het
Dbi	T	C	1: 120,113,477	K131E	probably benign	Het
Erbin	T	C	13: 103,834,012	N1032S	probably damaging	Het
Ero1l	T	C	14: 45,303,586	D107G	probably benign	Het
Glmn	A	T	5: 107,578,512		probably null	Het
Grxcr1	T	C	5: 68,110,562		probably benign	Het
Itih3	T	A	14: 30,909,781	K593I	probably damaging	Het
Kmt2b	T	C	7: 30,580,507	Y1356C	probably damaging	Het
Lrp1b	C	T	2: 40,750,947	C3495Y	probably damaging	Het
Map3k13	A	T	16: 21,928,016	T950S	probably damaging	Het
Me1	A	T	9: 86,598,748	V348D	probably damaging	Het
Morc2a	T	C	11: 3,684,042	V718A	probably benign	Het
Myh7	T	C	14: 54,971,632	E1883G	possibly damaging	Het
Olfr1338	T	A	4: 118,753,762	I259F	possibly damaging	Het
Olfr913	T	G	9: 38,594,905	I228R	probably damaging	Het
Pdcd6ip	A	G	9: 113,680,181		probably benign	Het
Plcb3	T	A	19: 6,955,322	E1025V	probably benign	Het
Ppp1r26	C	T	2: 28,453,860		probably benign	Het
Prkd1	T	C	12: 50,383,515		probably benign	Het
Rwdd4a	C	T	8: 47,544,112	T122M	possibly damaging	Het
Sdhb	T	G	4: 140,977,480	C251G	probably damaging	Het
Siglec1	A	T	2: 131,079,217	I678N	probably damaging	Het
Snrnp70	T	C	7: 45,377,377	D215G	probably damaging	Het
Ston1	A	G	17: 88,644,443	E674G	probably benign	Het
Tbl3	A	T	17: 24,705,252	I177N	probably damaging	Het
Tbl3	T	C	17: 24,701,905		probably benign	Het
Tnrc6c	T	C	11: 117,721,985	V483A	probably damaging	Het

Other mutations in Edn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01714:Edn1	APN	13	42305014	missense	probably benign
IGL03106:Edn1	APN	13	42305023	missense	possibly damaging	0.46
R0121:Edn1	UTSW	13	42305265	missense	probably benign	0.04
R0522:Edn1	UTSW	13	42304954	missense	probably damaging	0.99
R0646:Edn1	UTSW	13	42305242	splice site	probably benign
R1720:Edn1	UTSW	13	42305350	missense	probably benign	0.39
R1752:Edn1	UTSW	13	42303599	missense	possibly damaging	0.48
R1807:Edn1	UTSW	13	42306794	missense	probably damaging	1.00
R3883:Edn1	UTSW	13	42301906	missense	probably benign	0.02
R4685:Edn1	UTSW	13	42305253	critical splice acceptor site	probably null
R4812:Edn1	UTSW	13	42303640	missense	probably benign	0.17
R5071:Edn1	UTSW	13	42303677	missense	probably damaging	1.00
R5154:Edn1	UTSW	13	42305023	missense	probably benign	0.01
R5520:Edn1	UTSW	13	42301960	critical splice donor site	probably null
R5708:Edn1	UTSW	13	42303667	missense	probably benign	0.00
R5801:Edn1	UTSW	13	42306806	missense	probably benign	0.16
Z1177:Edn1	UTSW	13	42303631	missense	possibly damaging	0.61

Posted On

2013-06-21