Mutagenetix > Incidental Mutation

Incidental Mutation 'R5708:Edn1'

452099

Institutional Source

Beutler Lab

Gene Symbol

Edn1

Ensembl Gene

ENSMUSG00000021367

Gene Name

endothelin 1

Synonyms

ET-1

MMRRC Submission

043333-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5708 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42454952-42461466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42457143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 59 (M59L)

Ref Sequence

ENSEMBL: ENSMUSP00000021796 (fasta)

Gene Model

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

AlphaFold

P22387

Predicted Effect

probably benign
Transcript: ENSMUST00000021796
AA Change: M59L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000021796
Gene: ENSMUSG00000021367
AA Change: M59L

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

0.0639

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (65/66)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	A	G	8: 84,729,627 (GRCm39)	K101R	probably benign	Het
4933430I17Rik	T	C	4: 62,444,106 (GRCm39)	S18P	probably benign	Het
Adgb	C	T	10: 10,267,501 (GRCm39)	V940I	probably damaging	Het
Aox4	G	T	1: 58,285,032 (GRCm39)	A595S	possibly damaging	Het
Asxl2	T	A	12: 3,550,603 (GRCm39)	S782T	possibly damaging	Het
C1s2	A	T	6: 124,602,702 (GRCm39)	L503*	probably null	Het
C7	A	G	15: 5,044,883 (GRCm39)	V385A	possibly damaging	Het
Cdh20	T	C	1: 104,912,635 (GRCm39)	F630L	probably damaging	Het
Cdk14	A	C	5: 5,316,036 (GRCm39)		probably benign	Het
Cdkl4	T	C	17: 80,846,951 (GRCm39)	I239M	possibly damaging	Het
Cfap299	A	T	5: 98,885,566 (GRCm39)	M158L	probably benign	Het
Col11a1	A	G	3: 113,890,743 (GRCm39)	N360S	unknown	Het
D630003M21Rik	A	G	2: 158,062,312 (GRCm39)		probably null	Het
Dchs1	G	A	7: 105,422,016 (GRCm39)	P135S	probably damaging	Het
Dpysl2	A	G	14: 67,050,595 (GRCm39)	S421P	probably benign	Het
EU599041	A	G	7: 42,875,311 (GRCm39)		noncoding transcript	Het
Furin	A	G	7: 80,047,603 (GRCm39)		probably benign	Het
Gkn2	T	C	6: 87,354,418 (GRCm39)	L94P	probably damaging	Het
Gmeb2	A	T	2: 180,906,782 (GRCm39)	C117S	probably damaging	Het
Greb1	T	A	12: 16,723,843 (GRCm39)	I1869F	probably benign	Het
Heg1	A	G	16: 33,562,774 (GRCm39)	E1119G	probably damaging	Het
Hmgcs2	T	A	3: 98,198,478 (GRCm39)	L127Q	probably damaging	Het
Insyn2a	C	A	7: 134,520,525 (GRCm39)	V2F	probably damaging	Het
Kcnh6	A	G	11: 105,911,082 (GRCm39)	R493G	probably benign	Het
Kcnj11	C	T	7: 45,749,242 (GRCm39)	R27H	probably benign	Het
Klra14-ps	A	G	6: 130,134,751 (GRCm39)		noncoding transcript	Het
Lgmn	A	T	12: 102,370,587 (GRCm39)	N114K	possibly damaging	Het
Lipg	C	T	18: 75,088,505 (GRCm39)	M148I	possibly damaging	Het
Megf8	G	T	7: 25,034,022 (GRCm39)	R607L	probably benign	Het
Mks1	A	G	11: 87,747,665 (GRCm39)	T183A	probably benign	Het
Mllt11	A	G	3: 95,127,515 (GRCm39)	V85A	probably benign	Het
Mpo	A	T	11: 87,692,581 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,575,515 (GRCm39)		probably benign	Het
Myoz3	T	C	18: 60,712,104 (GRCm39)	Y158C	probably damaging	Het
Or11g25	A	T	14: 50,723,452 (GRCm39)	D179V	probably damaging	Het
Or4k41	A	G	2: 111,280,354 (GRCm39)	R290G	probably damaging	Het
Or5ae1	A	G	7: 84,565,391 (GRCm39)	I135V	possibly damaging	Het
Polq	T	A	16: 36,881,380 (GRCm39)	S902R	probably damaging	Het
Rarb	T	C	14: 16,548,545 (GRCm38)	T93A	probably damaging	Het
Rgs12	A	G	5: 35,123,696 (GRCm39)	D493G	probably benign	Het
Sec31b	T	A	19: 44,511,583 (GRCm39)	D606V	probably damaging	Het
Setd2	T	C	9: 110,377,891 (GRCm39)	F569L	possibly damaging	Het
Sil1	T	C	18: 35,474,170 (GRCm39)	E149G	probably benign	Het
Spata13	T	G	14: 60,929,452 (GRCm39)	S337A	probably damaging	Het
Srfbp1	T	A	18: 52,622,018 (GRCm39)	L360M	probably damaging	Het
Tecta	A	T	9: 42,250,222 (GRCm39)	C1852S	probably damaging	Het
Tgfbr3l	A	G	8: 4,300,360 (GRCm39)	T208A	probably damaging	Het
Tmem38b	G	C	4: 53,849,051 (GRCm39)		probably null	Het
Tnfrsf11a	T	A	1: 105,741,545 (GRCm39)		probably null	Het
Tnik	T	A	3: 28,666,120 (GRCm39)		probably null	Het
Tsc1	A	T	2: 28,555,197 (GRCm39)		probably benign	Het
Zfp930	T	C	8: 69,679,113 (GRCm39)	V41A	probably benign	Het
Zscan18	A	T	7: 12,508,383 (GRCm39)	D372E	probably benign	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
R5801:Edn1	UTSW	13	42,460,282 (GRCm39)	missense	probably benign	0.16
Z1177:Edn1	UTSW	13	42,457,107 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- CTCTGGACGCCTGAAGAAAG -3'
(R):5'- CTAAGCTGACCTGTCTCAGTCAG -3'

Sequencing Primer
(F):5'- TCTGGACGCCTGAAGAAAGATATTAC -3'
(R):5'- GTCTCAGTCAGCAGGGTTTCC -3'

Posted On

2017-01-03