Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02739:Epas1'

305807

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Epas1

Ensembl Gene

ENSMUSG00000024140

Gene Name

endothelial PAS domain protein 1

Synonyms

HIF-2alpha, HRF, HLF, bHLHe73, hypoxia inducible transcription factor 2alpha, HIF2A, MOP2, Hif like protein

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02739

Quality Score

Status

Chromosome

Chromosomal Location

86753907-86833410 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86805282 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 103 (T103A)

Ref Sequence

ENSEMBL: ENSMUSP00000024954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024954]

Predicted Effect

probably damaging
Transcript: ENSMUST00000024954
AA Change: T103A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: T103A

Domain	Start	End	E-Value	Type
HLH	20	75	3.98e-9	SMART
PAS	86	152	6.39e-9	SMART
PAS	232	298	6.75e-8	SMART
PAC	304	347	5.56e-9	SMART
low complexity region	464	484	N/A	INTRINSIC
Pfam:HIF-1	516	548	4.9e-21	PFAM
low complexity region	725	737	N/A	INTRINSIC
low complexity region	775	796	N/A	INTRINSIC
Pfam:HIF-1a_CTAD	837	873	3.6e-23	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for null mutations display prenatal, neonatal or postnatal lethality. For some alleles lethality is associated with vascular abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 76,878,517	C887S	possibly damaging	Het
Adamdec1	C	A	14: 68,570,156	E352*	probably null	Het
Bglap2	A	T	3: 88,378,012		probably null	Het
Bsn	A	T	9: 108,112,546	H2002Q	probably benign	Het
Chtop	T	A	3: 90,502,250	Q165L	possibly damaging	Het
Clcn1	A	T	6: 42,286,780		probably null	Het
Ctsr	T	C	13: 61,161,844	T184A	probably benign	Het
Defb36	T	C	2: 152,604,519	L11P	unknown	Het
Dock8	A	G	19: 25,188,488	E1912G	probably damaging	Het
Dpp3	A	G	19: 4,923,728	Y106H	probably damaging	Het
Epcam	A	T	17: 87,640,494	T131S	probably benign	Het
Fam169a	A	G	13: 97,094,055		probably benign	Het
Gh	T	A	11: 106,301,733		probably benign	Het
Kif20a	A	T	18: 34,628,943	K399*	probably null	Het
Lrp1b	A	G	2: 41,498,215	I466T	probably damaging	Het
Nlk	A	G	11: 78,574,851	V409A	probably benign	Het
Nomo1	A	G	7: 46,044,307		probably null	Het
Nr2c1	T	A	10: 94,156,972	M16K	probably damaging	Het
Nxph2	A	T	2: 23,399,900	Q88L	probably benign	Het
Olfr33	A	G	7: 102,714,314	I33T	possibly damaging	Het
Pkdrej	T	A	15: 85,819,694	R680S	probably benign	Het
Pkhd1l1	A	T	15: 44,540,950	N2325I	probably benign	Het
Pnliprp2	T	C	19: 58,760,509		probably null	Het
Ppp1r42	T	A	1: 9,968,853	K347N	probably benign	Het
Prtg	T	C	9: 72,851,585	V407A	possibly damaging	Het
Psmb8	C	A	17: 34,200,754	S194*	probably null	Het
Rnf214	T	C	9: 45,869,474	I406V	probably benign	Het
Rreb1	C	T	13: 37,893,821	S3L	probably damaging	Het
Sdad1	C	T	5: 92,290,072	A539T	probably benign	Het
Sema3a	A	G	5: 13,451,161	Y57C	probably damaging	Het
Susd5	A	G	9: 114,096,033	E328G	possibly damaging	Het
Syngr3	T	C	17: 24,686,398	T175A	probably damaging	Het
Tcf20	T	A	15: 82,856,080	Q390L	probably damaging	Het
Tex15	A	G	8: 33,581,693	T2423A	possibly damaging	Het
Tlr1	T	C	5: 64,927,126	N36S	probably benign	Het
Uchl4	C	T	9: 64,235,537	T100M	probably damaging	Het
Uhrf1	A	G	17: 56,305,129	K11R	probably benign	Het
Vps13b	T	A	15: 35,879,900	D3040E	probably damaging	Het
Wdr62	A	T	7: 30,242,460	Y640*	probably null	Het
Zkscan17	T	G	11: 59,503,526	E83A	probably damaging	Het

Other mutations in Epas1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01934:Epas1	APN	17	86823729	missense	probably damaging	1.00
IGL02150:Epas1	APN	17	86805289	missense	probably damaging	1.00
IGL02221:Epas1	APN	17	86827847	missense	possibly damaging	0.50
IGL02555:Epas1	APN	17	86829064	missense	probably benign
IGL03389:Epas1	APN	17	86823703	missense	probably benign	0.10
R0043:Epas1	UTSW	17	86823812	missense	probably damaging	0.99
R0363:Epas1	UTSW	17	86805848	splice site	probably benign
R0399:Epas1	UTSW	17	86805193	missense	probably benign	0.01
R0737:Epas1	UTSW	17	86829456	missense	possibly damaging	0.45
R1542:Epas1	UTSW	17	86824490	missense	possibly damaging	0.67
R1662:Epas1	UTSW	17	86829027	missense	probably damaging	0.99
R1885:Epas1	UTSW	17	86805295	missense	probably damaging	1.00
R2197:Epas1	UTSW	17	86829043	missense	probably benign	0.01
R3056:Epas1	UTSW	17	86830981	missense	probably damaging	0.99
R4342:Epas1	UTSW	17	86823800	missense	probably damaging	1.00
R4391:Epas1	UTSW	17	86809663	missense	probably benign	0.00
R4774:Epas1	UTSW	17	86805758	missense	probably damaging	1.00
R4798:Epas1	UTSW	17	86805839	missense	probably benign
R4989:Epas1	UTSW	17	86809454	missense	probably damaging	1.00
R5133:Epas1	UTSW	17	86809454	missense	probably damaging	1.00
R5604:Epas1	UTSW	17	86805772	missense	probably damaging	1.00
R5811:Epas1	UTSW	17	86823775	missense	probably damaging	1.00
R5838:Epas1	UTSW	17	86823686	missense	possibly damaging	0.94
R5885:Epas1	UTSW	17	86827544	missense	probably damaging	1.00
R5932:Epas1	UTSW	17	86827646	missense	possibly damaging	0.66
R6045:Epas1	UTSW	17	86809399	missense	probably damaging	0.99
R6145:Epas1	UTSW	17	86829429	missense	probably benign	0.01
R7517:Epas1	UTSW	17	86831098	missense	possibly damaging	0.92
R7552:Epas1	UTSW	17	86829043	missense	probably benign	0.01
R7828:Epas1	UTSW	17	86827699	missense	probably benign	0.04
R8081:Epas1	UTSW	17	86829369	missense	probably benign
R8111:Epas1	UTSW	17	86818432	nonsense	probably null
R8558:Epas1	UTSW	17	86809468	missense	possibly damaging	0.89
Z1176:Epas1	UTSW	17	86827946	missense	possibly damaging	0.53

Posted On

2015-04-16