Mutagenetix > Incidental Mutation

Incidental Mutation 'R5801:Edn1'

448375

Institutional Source

Beutler Lab

Gene Symbol

Edn1

Ensembl Gene

ENSMUSG00000021367

Gene Name

endothelin 1

Synonyms

ET-1

MMRRC Submission

043390-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5801 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42454952-42461466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 42460282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 179 (A179E)

Ref Sequence

ENSEMBL: ENSMUSP00000021796 (fasta)

Gene Model

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

AlphaFold

P22387

Predicted Effect

probably benign
Transcript: ENSMUST00000021796
AA Change: A179E

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021796
Gene: ENSMUSG00000021367
AA Change: A179E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (75/75)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	T	A	4: 144,430,206 (GRCm39)	D261V	probably damaging	Het
Adam15	C	T	3: 89,249,668 (GRCm39)	V667I	probably damaging	Het
Adamts14	T	C	10: 61,038,775 (GRCm39)	S912G	probably damaging	Het
Adamts20	C	A	15: 94,245,551 (GRCm39)	E584*	probably null	Het
Ago3	A	T	4: 126,265,561 (GRCm39)	N284K	possibly damaging	Het
Alx3	T	A	3: 107,512,257 (GRCm39)	Y298*	probably null	Het
Arhgap32	A	G	9: 32,167,084 (GRCm39)	I574V	probably benign	Het
Bsn	C	T	9: 107,990,208 (GRCm39)	R1848Q	possibly damaging	Het
Caskin2	T	C	11: 115,694,299 (GRCm39)	D400G	probably damaging	Het
Cdc73	T	A	1: 143,484,281 (GRCm39)	H525L	probably benign	Het
Cep135	A	G	5: 76,778,523 (GRCm39)	E674G	probably damaging	Het
Cic	G	A	7: 24,970,863 (GRCm39)	R198Q	possibly damaging	Het
Col5a2	T	C	1: 45,428,641 (GRCm39)		probably null	Het
Col6a5	A	G	9: 105,825,566 (GRCm39)	V9A	unknown	Het
Cpsf7	A	T	19: 10,516,996 (GRCm39)	D366V	probably benign	Het
Cuedc2	T	C	19: 46,319,796 (GRCm39)	E173G	probably damaging	Het
D5Ertd579e	T	C	5: 36,761,913 (GRCm39)	E1318G	probably damaging	Het
Ddx55	T	C	5: 124,704,560 (GRCm39)		probably null	Het
Dennd1b	T	A	1: 138,967,727 (GRCm39)		probably null	Het
Dpy19l3	T	C	7: 35,424,723 (GRCm39)	T111A	probably benign	Het
Eif2b1	T	C	5: 124,712,775 (GRCm39)		probably null	Het
Epha5	A	G	5: 84,479,085 (GRCm39)		probably null	Het
Erc1	T	A	6: 119,750,783 (GRCm39)	N466I	probably damaging	Het
Ermp1	A	G	19: 29,590,228 (GRCm39)	F825L	probably damaging	Het
Fbh1	T	C	2: 11,774,637 (GRCm39)	D36G	probably damaging	Het
Fbxo41	G	T	6: 85,461,515 (GRCm39)	F64L	probably damaging	Het
Gabrb2	T	C	11: 42,312,216 (GRCm39)	S14P	probably benign	Het
Gm6505	A	T	3: 28,819,116 (GRCm39)		noncoding transcript	Het
Ighv1-18	T	A	12: 114,646,328 (GRCm39)	D91V	probably damaging	Het
Imp3	A	G	9: 56,845,086 (GRCm39)	D99G	probably benign	Het
Iqub	T	C	6: 24,449,768 (GRCm39)	K699R	probably benign	Het
Itpk1	A	G	12: 102,540,204 (GRCm39)	V293A	probably damaging	Het
Lrrc49	A	T	9: 60,509,916 (GRCm39)	F157L	probably damaging	Het
Mapk1ip1	T	A	7: 138,438,239 (GRCm39)	T64S	possibly damaging	Het
Mrpl9	T	C	3: 94,355,103 (GRCm39)	L225P	possibly damaging	Het
Ms4a14	A	G	19: 11,279,150 (GRCm39)	L1136S	possibly damaging	Het
Ms4a14	A	T	19: 11,279,246 (GRCm39)	I1104K	possibly damaging	Het
Nkain2	T	C	10: 32,278,264 (GRCm39)	T54A	probably damaging	Het
Ociad2	A	G	5: 73,483,642 (GRCm39)	F60S	probably damaging	Het
Or1e1f	T	C	11: 73,855,772 (GRCm39)	F113L	probably benign	Het
Polk	T	A	13: 96,620,094 (GRCm39)	H723L	probably damaging	Het
Prickle4	C	A	17: 47,999,698 (GRCm39)	R285L	possibly damaging	Het
Psmd2	A	G	16: 20,473,672 (GRCm39)	N121S	probably damaging	Het
Rab11fip5	T	A	6: 85,314,582 (GRCm39)	S1212C	probably damaging	Het
Rasgef1c	T	G	11: 49,860,883 (GRCm39)	M266R	probably damaging	Het
Rpusd4	A	G	9: 35,181,369 (GRCm39)	E155G	possibly damaging	Het
Rrbp1	A	G	2: 143,831,703 (GRCm39)	S155P	probably damaging	Het
Safb2	T	C	17: 56,870,103 (GRCm39)	Y991C	possibly damaging	Het
Shank1	G	A	7: 44,006,240 (GRCm39)	E1986K	possibly damaging	Het
Slc22a14	A	G	9: 119,001,149 (GRCm39)	F482L	probably benign	Het
Slc35e3	T	A	10: 117,581,767 (GRCm39)	M109L	probably benign	Het
Slco4c1	T	C	1: 96,799,809 (GRCm39)	N9S	probably damaging	Het
Slco6b1	C	T	1: 96,875,356 (GRCm39)		noncoding transcript	Het
Sptan1	A	G	2: 29,920,613 (GRCm39)		probably null	Het
Sptlc2	T	C	12: 87,388,545 (GRCm39)		probably null	Het
Stk10	C	T	11: 32,546,748 (GRCm39)	P335L	probably benign	Het
Strip1	A	C	3: 107,528,757 (GRCm39)	L391R	possibly damaging	Het
Tacr1	T	A	6: 82,534,134 (GRCm39)	S387T	probably benign	Het
Thbs2	A	T	17: 14,908,125 (GRCm39)	F213I	probably damaging	Het
Thbs3	A	T	3: 89,131,704 (GRCm39)	Y692F	probably benign	Het
Tktl2	C	A	8: 66,966,299 (GRCm39)	A619E	probably benign	Het
Tmc3	A	T	7: 83,271,686 (GRCm39)	E946V	possibly damaging	Het
Tmem132d	A	G	5: 127,861,964 (GRCm39)	V719A	possibly damaging	Het
Trpa1	T	C	1: 14,968,302 (GRCm39)	H488R	probably damaging	Het
Tsfm	TCACTCC	TCACTCCACTCC	10: 126,858,706 (GRCm39)		probably null	Het
Wdr35	A	G	12: 9,056,723 (GRCm39)	T503A	possibly damaging	Het
Zfp109	T	C	7: 23,928,126 (GRCm39)	K436E	probably damaging	Het
Zfp423	A	G	8: 88,585,990 (GRCm39)	Y78H	probably damaging	Het
Zfp970	A	G	2: 177,165,151 (GRCm39)	K26E	probably damaging	Het

Other mutations in Edn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Edn1	APN	13	42,457,147 (GRCm39)	missense	probably damaging	1.00
IGL01714:Edn1	APN	13	42,458,490 (GRCm39)	missense	probably benign
IGL03106:Edn1	APN	13	42,458,499 (GRCm39)	missense	possibly damaging	0.46
R0121:Edn1	UTSW	13	42,458,741 (GRCm39)	missense	probably benign	0.04
R0522:Edn1	UTSW	13	42,458,430 (GRCm39)	missense	probably damaging	0.99
R0646:Edn1	UTSW	13	42,458,718 (GRCm39)	splice site	probably benign
R1720:Edn1	UTSW	13	42,458,826 (GRCm39)	missense	probably benign	0.39
R1752:Edn1	UTSW	13	42,457,075 (GRCm39)	missense	possibly damaging	0.48
R1807:Edn1	UTSW	13	42,460,270 (GRCm39)	missense	probably damaging	1.00
R3883:Edn1	UTSW	13	42,455,382 (GRCm39)	missense	probably benign	0.02
R4685:Edn1	UTSW	13	42,458,729 (GRCm39)	critical splice acceptor site	probably null
R4812:Edn1	UTSW	13	42,457,116 (GRCm39)	missense	probably benign	0.17
R5071:Edn1	UTSW	13	42,457,153 (GRCm39)	missense	probably damaging	1.00
R5154:Edn1	UTSW	13	42,458,499 (GRCm39)	missense	probably benign	0.01
R5520:Edn1	UTSW	13	42,455,436 (GRCm39)	critical splice donor site	probably null
R5708:Edn1	UTSW	13	42,457,143 (GRCm39)	missense	probably benign	0.00
Z1177:Edn1	UTSW	13	42,457,107 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- GCTTGAGGATTTACCAAAGAGC -3'
(R):5'- AAGCCACACAGATGGTCTTG -3'

Sequencing Primer
(F):5'- CATTGCCACAACTGGTGTAAAAG -3'
(R):5'- CAGATGGTCTTGCTAAGATCCCAG -3'

Posted On

2016-12-15