Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03106:Edn1'

418967

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Edn1

Ensembl Gene

ENSMUSG00000021367

Gene Name

endothelin 1

Synonyms

ET-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03106

Quality Score

Status

Chromosome

Chromosomal Location

42454952-42461466 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 42458499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 104 (T104K)

Ref Sequence

ENSEMBL: ENSMUSP00000021796 (fasta)

Gene Model

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

AlphaFold

P22387

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021796
AA Change: T104K

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021796
Gene: ENSMUSG00000021367
AA Change: T104K

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	G	T	8: 25,205,135 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,621,018 (GRCm39)	N3911S	probably benign	Het
Alox12b	C	T	11: 69,059,702 (GRCm39)	Q585*	probably null	Het
Amtn	A	G	5: 88,525,944 (GRCm39)	Q36R	probably benign	Het
Arg2	G	A	12: 79,196,665 (GRCm39)	G129S	probably damaging	Het
Arhgef28	A	C	13: 98,094,301 (GRCm39)	Y948D	probably damaging	Het
Atp10b	T	C	11: 43,138,304 (GRCm39)	V1195A	probably benign	Het
Bet1l	G	T	7: 140,434,523 (GRCm39)	T42K	probably benign	Het
Cabin1	G	A	10: 75,569,462 (GRCm39)	T875I	probably benign	Het
Ccdc17	A	G	4: 116,454,033 (GRCm39)		probably null	Het
Crebrf	A	G	17: 26,990,293 (GRCm39)	E612G	probably damaging	Het
Cyp2c67	A	T	19: 39,632,119 (GRCm39)	M83K	probably benign	Het
Dgkz	A	G	2: 91,771,204 (GRCm39)	S414P	probably damaging	Het
Dock10	G	T	1: 80,546,551 (GRCm39)	H411N	probably damaging	Het
Dpyd	A	T	3: 118,988,783 (GRCm39)	T749S	probably benign	Het
Dsc1	C	T	18: 20,219,701 (GRCm39)		probably null	Het
Echdc1	A	T	10: 29,198,276 (GRCm39)	M74L	probably damaging	Het
Fat2	T	A	11: 55,202,727 (GRCm39)	T116S	probably benign	Het
Fcrl5	A	T	3: 87,343,190 (GRCm39)		probably null	Het
Fpgt	C	T	3: 154,792,759 (GRCm39)	G423R	probably damaging	Het
Gprc5b	A	T	7: 118,583,416 (GRCm39)	V151E	probably damaging	Het
Grm5	A	G	7: 87,685,278 (GRCm39)	Y465C	probably damaging	Het
Idh3b	T	A	2: 130,126,321 (GRCm39)	N6I	probably benign	Het
Ighmbp2	T	C	19: 3,323,022 (GRCm39)	K308R	possibly damaging	Het
Lrch1	A	T	14: 75,073,202 (GRCm39)	S146T	possibly damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mterf3	T	C	13: 67,078,221 (GRCm39)	K16R	probably damaging	Het
Ncapg	T	A	5: 45,853,010 (GRCm39)	H825Q	probably damaging	Het
Or2t1	G	A	14: 14,328,851 (GRCm38)	V247I	probably damaging	Het
Or2y1f	T	A	11: 49,184,988 (GRCm39)	I280N	probably damaging	Het
Or4d5	A	G	9: 40,012,030 (GRCm39)	V252A	probably damaging	Het
Or5b95	G	A	19: 12,658,287 (GRCm39)	V272M	possibly damaging	Het
Or5t15	A	C	2: 86,681,958 (GRCm39)	L28R	possibly damaging	Het
Or5w15	A	T	2: 87,568,462 (GRCm39)	S69T	probably benign	Het
Pald1	A	T	10: 61,182,884 (GRCm39)	M355K	probably benign	Het
Phc1	A	G	6: 122,300,428 (GRCm39)		probably benign	Het
Phkb	T	A	8: 86,745,095 (GRCm39)		probably benign	Het
Pkn3	G	T	2: 29,975,257 (GRCm39)	R506L	probably damaging	Het
Plod2	T	C	9: 92,455,620 (GRCm39)	Y100H	probably damaging	Het
Prl7b1	G	T	13: 27,790,918 (GRCm39)	Q56K	probably benign	Het
Rhot1	T	A	11: 80,133,407 (GRCm39)	C229*	probably null	Het
Sema3a	G	A	5: 13,649,456 (GRCm39)	R735Q	probably damaging	Het
Slc18b1	A	G	10: 23,702,557 (GRCm39)	*460W	probably null	Het
Slco6c1	T	A	1: 96,993,748 (GRCm39)		probably benign	Het
Slu7	T	A	11: 43,333,457 (GRCm39)	V359D	possibly damaging	Het
Suco	T	C	1: 161,662,049 (GRCm39)	Y794C	possibly damaging	Het
Sult3a2	T	C	10: 33,655,769 (GRCm39)	N70S	probably benign	Het
Taar2	A	T	10: 23,817,195 (GRCm39)	D245V	probably damaging	Het
Taf1d	A	G	9: 15,221,237 (GRCm39)	H181R	possibly damaging	Het
Tmem33	T	C	5: 67,421,139 (GRCm39)	S38P	probably damaging	Het
Traf3ip1	T	C	1: 91,450,609 (GRCm39)	S519P	probably benign	Het
Ttc12	T	C	9: 49,369,362 (GRCm39)	K253E	possibly 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
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
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

Posted On

2016-08-02