Mutagenetix > Incidental Mutation

Incidental Mutation 'R1720:Edn1'

191404

Institutional Source

Beutler Lab

Gene Symbol

Edn1

Ensembl Gene

ENSMUSG00000021367

Gene Name

endothelin 1

Synonyms

ET-1

MMRRC Submission

039752-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1720 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42454952-42461466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42458826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 163 (E163G)

Ref Sequence

ENSEMBL: ENSMUSP00000021796 (fasta)

Gene Model

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

AlphaFold

P22387

Predicted Effect

probably benign
Transcript: ENSMUST00000021796
AA Change: E163G

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021796
Gene: ENSMUSG00000021367
AA Change: E163G

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

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.8%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	A	G	12: 84,122,655 (GRCm39)	D413G	probably benign	Het
Actr5	G	T	2: 158,478,057 (GRCm39)	V476F	possibly damaging	Het
Adhfe1	G	A	1: 9,637,125 (GRCm39)	D426N	probably benign	Het
Adra1a	T	C	14: 66,875,727 (GRCm39)	L234P	probably damaging	Het
Akap9	G	T	5: 4,022,791 (GRCm39)	V1207L	possibly damaging	Het
Anapc2	A	G	2: 25,164,724 (GRCm39)	D36G	probably benign	Het
Apol8	A	G	15: 77,633,566 (GRCm39)	S337P	possibly damaging	Het
Asxl3	A	T	18: 22,585,492 (GRCm39)	D139V	probably damaging	Het
Atp13a4	A	T	16: 29,227,746 (GRCm39)	V1037E	probably damaging	Het
Baat	A	T	4: 49,490,231 (GRCm39)	F284L	probably benign	Het
Bltp3b	T	C	10: 89,618,448 (GRCm39)	V141A	probably damaging	Het
C1qtnf6	A	T	15: 78,411,640 (GRCm39)	F40Y	probably damaging	Het
Caskin2	G	A	11: 115,693,608 (GRCm39)	H508Y	probably damaging	Het
Cass4	A	T	2: 172,269,654 (GRCm39)	I579F	probably damaging	Het
Cdk15	A	G	1: 59,328,917 (GRCm39)	Y277C	probably damaging	Het
Cit	G	A	5: 116,105,956 (GRCm39)	D947N	probably damaging	Het
Clint1	T	A	11: 45,778,237 (GRCm39)	I126K	probably damaging	Het
Col6a4	C	T	9: 105,903,671 (GRCm39)	G1640E	probably damaging	Het
Ddx10	T	C	9: 53,149,371 (GRCm39)	K119E	probably damaging	Het
Dennd1a	G	A	2: 37,690,209 (GRCm39)	Q964*	probably null	Het
Dnhd1	T	C	7: 105,343,035 (GRCm39)	F1460L	probably benign	Het
Edc3	T	C	9: 57,655,462 (GRCm39)		probably null	Het
Efl1	A	T	7: 82,332,929 (GRCm39)	D317V	possibly damaging	Het
Elapor2	T	G	5: 9,478,407 (GRCm39)	C424G	probably damaging	Het
F2	A	T	2: 91,459,175 (GRCm39)	Y430*	probably null	Het
Faap100	C	T	11: 120,265,407 (GRCm39)	V490M	probably damaging	Het
Fuz	G	T	7: 44,546,415 (GRCm39)	G104W	probably damaging	Het
Greb1l	C	A	18: 10,553,848 (GRCm39)	H1616Q	probably benign	Het
Grm1	G	T	10: 10,622,538 (GRCm39)		probably null	Het
Gucy2d	G	T	7: 98,126,437 (GRCm39)	A1098S	probably benign	Het
H1f0	T	A	15: 78,913,195 (GRCm39)	S92T	possibly damaging	Het
Hbb-bt	T	A	7: 103,463,083 (GRCm39)		probably benign	Het
Heg1	G	A	16: 33,527,549 (GRCm39)	A170T	probably benign	Het
Hspa4l	A	T	3: 40,736,049 (GRCm39)	K578*	probably null	Het
Ikbke	A	G	1: 131,186,947 (GRCm39)	S582P	possibly damaging	Het
Itga6	T	A	2: 71,650,510 (GRCm39)	F185L	probably damaging	Het
Itgal	T	A	7: 126,906,099 (GRCm39)	D396E	probably benign	Het
Kif5b	T	C	18: 6,213,427 (GRCm39)	H687R	probably benign	Het
Kmt2c	T	C	5: 25,504,182 (GRCm39)	N3709D	probably benign	Het
Lipf	A	T	19: 33,943,066 (GRCm39)	K125*	probably null	Het
Lrif1	A	T	3: 106,640,452 (GRCm39)	E512D	probably damaging	Het
Matn2	T	A	15: 34,345,420 (GRCm39)	Y142*	probably null	Het
Med13l	A	G	5: 118,880,060 (GRCm39)	T1051A	probably damaging	Het
Mpp3	T	A	11: 101,916,582 (GRCm39)	M1L	possibly damaging	Het
Mro	C	T	18: 74,009,806 (GRCm39)	S159L	probably benign	Het
Myh15	T	A	16: 48,913,145 (GRCm39)	D367E	probably damaging	Het
Myo1g	T	C	11: 6,462,490 (GRCm39)	Q547R	probably benign	Het
Neb	T	C	2: 52,097,733 (GRCm39)	I902M	probably benign	Het
Nsd1	G	A	13: 55,394,711 (GRCm39)	D771N	probably damaging	Het
Or10x4	A	G	1: 174,219,486 (GRCm39)	I284V	probably benign	Het
Or14a256	T	C	7: 86,265,664 (GRCm39)	N63S	probably damaging	Het
Or2a20	T	C	6: 43,194,494 (GRCm39)	S216P	probably damaging	Het
Or4e5	A	C	14: 52,728,051 (GRCm39)	Y40*	probably null	Het
Or8b48	C	T	9: 38,492,585 (GRCm39)	T4I	probably benign	Het
Penk	A	G	4: 4,134,240 (GRCm39)	Y136H	probably damaging	Het
Prdm6	C	T	18: 53,673,272 (GRCm39)	S144L	probably benign	Het
Ptprq	T	A	10: 107,522,155 (GRCm39)	I599F	probably damaging	Het
Racgap1	A	T	15: 99,526,650 (GRCm39)	C304*	probably null	Het
Rbp3	T	C	14: 33,678,866 (GRCm39)	V938A	probably benign	Het
Rpp30	A	G	19: 36,071,827 (GRCm39)	K132E	probably damaging	Het
Rxfp2	A	T	5: 149,966,564 (GRCm39)	R101*	probably null	Het
Ryr1	A	T	7: 28,801,295 (GRCm39)	V823E	probably damaging	Het
S100pbp	A	T	4: 129,075,886 (GRCm39)	D146E	probably damaging	Het
Sdr9c7	T	A	10: 127,738,127 (GRCm39)	V135E	probably damaging	Het
Serpinb12	A	G	1: 106,874,344 (GRCm39)	D23G	probably damaging	Het
Serpinf1	T	A	11: 75,304,807 (GRCm39)	T185S	probably null	Het
Slc23a1	A	C	18: 35,758,904 (GRCm39)	C96G	possibly damaging	Het
Slc5a4a	C	T	10: 76,025,103 (GRCm39)		probably null	Het
Spmap1	A	G	11: 97,662,435 (GRCm39)	F146L	probably damaging	Het
Suco	A	T	1: 161,661,623 (GRCm39)	L936Q	probably damaging	Het
Tmem144	T	C	3: 79,732,606 (GRCm39)	Y224C	probably damaging	Het
Tpm4	T	A	8: 72,898,598 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,560,414 (GRCm39)	E29329G	probably damaging	Het
Txn1	T	C	4: 57,943,922 (GRCm39)	I101V	probably benign	Het
Ube2o	A	T	11: 116,435,433 (GRCm39)	C452S	probably benign	Het
Uxs1	A	T	1: 43,804,081 (GRCm39)	I278N	probably damaging	Het
Vps54	T	C	11: 21,256,519 (GRCm39)	F663L	probably damaging	Het
Wdfy3	CG	C	5: 102,074,391 (GRCm39)		probably null	Het
Zc3h11a	A	G	1: 133,549,439 (GRCm39)	S741P	probably damaging	Het
Zdbf2	G	A	1: 63,342,436 (GRCm39)	V272I	possibly damaging	Het
Zdhhc24	A	G	19: 4,928,979 (GRCm39)	N68S	probably damaging	Het
Znfx1	A	T	2: 166,885,986 (GRCm39)	L858*	probably null	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
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
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'- CACAGACCAGGCAGTTAGATGTCAG -3'
(R):5'- TGTGTGCTAAGACACAGTGGGCAG -3'

Sequencing Primer
(F):5'- GGAGGCCCCTTTGACTTGTC -3'
(R):5'- ACTGGACTCAAGCCTTTCTC -3'

Posted On

2014-05-14