Mutagenetix > Incidental Mutation

Incidental Mutation 'R9607:Epas1'

723969

Institutional Source

Beutler Lab

Gene Symbol

Epas1

Ensembl Gene

ENSMUSG00000024140

Gene Name

endothelial PAS domain protein 1

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9607 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87061292-87140838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87134038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 516 (T516S)

Ref Sequence

ENSEMBL: ENSMUSP00000024954 (fasta)

Gene Model

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

AlphaFold

P97481

Predicted Effect

probably benign
Transcript: ENSMUST00000024954
AA Change: T516S

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: T516S

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,914,068 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,817,250 (GRCm39)	Y927C		Het
Bckdhb	A	G	9: 83,871,344 (GRCm39)	I208V	probably benign	Het
Cacna1g	T	C	11: 94,356,714 (GRCm39)	I141V	probably benign	Het
Celsr1	A	G	15: 85,915,229 (GRCm39)	S915P		Het
Celsr3	G	A	9: 108,717,701 (GRCm39)		probably null	Het
Cep295	A	T	9: 15,234,009 (GRCm39)	D2262E	probably damaging	Het
Chil3	T	C	3: 106,067,685 (GRCm39)	K160R	probably null	Het
Cmtr1	G	T	17: 29,893,196 (GRCm39)	A72S	probably benign	Het
Cpa5	T	C	6: 30,626,338 (GRCm39)	F233S	probably damaging	Het
Creb3l3	G	A	10: 80,920,735 (GRCm39)	R432W	probably damaging	Het
Csdc2	A	G	15: 81,831,088 (GRCm39)	D45G	possibly damaging	Het
Csmd3	G	T	15: 47,618,811 (GRCm39)	T1859K	probably damaging	Het
Cxxc1	T	C	18: 74,353,479 (GRCm39)		probably null	Het
Dcc	A	G	18: 71,721,072 (GRCm39)	S430P	probably damaging	Het
Dera	T	G	6: 137,833,732 (GRCm39)	S270A	unknown	Het
Dnaaf1	A	G	8: 120,309,350 (GRCm39)	E146G	possibly damaging	Het
Dsg4	A	T	18: 20,586,047 (GRCm39)	T246S	probably benign	Het
Eif4g3	A	G	4: 137,893,045 (GRCm39)	E766G	probably benign	Het
Ep400	A	C	5: 110,831,805 (GRCm39)	C2146G	unknown	Het
Espn	A	G	4: 152,219,939 (GRCm39)	S395P	probably benign	Het
Fam124b	T	A	1: 80,190,813 (GRCm39)	Q190L	probably damaging	Het
Filip1	T	A	9: 79,726,402 (GRCm39)	D739V	probably damaging	Het
Flg2	A	G	3: 93,108,719 (GRCm39)	Y249C	probably damaging	Het
Gon4l	T	A	3: 88,765,751 (GRCm39)	S391T	probably damaging	Het
Hoxa5	G	T	6: 52,181,196 (GRCm39)	Y45*	probably null	Het
Ift172	A	G	5: 31,410,913 (GRCm39)	F1715S		Het
Klhdc9	T	A	1: 171,187,124 (GRCm39)	H262L	probably damaging	Het
Krt16	C	A	11: 100,138,453 (GRCm39)	D232Y	probably damaging	Het
Lrrd1	A	G	5: 3,901,561 (GRCm39)	E622G	probably damaging	Het
Mars1	A	T	10: 127,144,493 (GRCm39)	C182*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Msrb2	C	A	2: 19,399,130 (GRCm39)	N164K	probably damaging	Het
Mtcl2	T	G	2: 156,869,488 (GRCm39)	E1049A	probably damaging	Het
Muc2	T	A	7: 141,305,190 (GRCm39)	C604S		Het
Mup17	T	C	4: 61,511,903 (GRCm39)	I124V	probably benign	Het
Myo18b	T	C	5: 113,022,544 (GRCm39)	M283V	unknown	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Nepro	T	C	16: 44,551,832 (GRCm39)	L230P	probably damaging	Het
Nes	A	G	3: 87,883,513 (GRCm39)	N591D	probably benign	Het
Nfrkb	T	C	9: 31,326,066 (GRCm39)	S1170P	possibly damaging	Het
Nphs1	A	T	7: 30,163,012 (GRCm39)	T430S	probably damaging	Het
Nrp1	T	C	8: 129,152,262 (GRCm39)	V157A	probably benign	Het
Nup188	T	A	2: 30,197,724 (GRCm39)	D259E	probably benign	Het
Or52n5	T	C	7: 104,588,207 (GRCm39)	M158T	probably benign	Het
Or5b109	A	T	19: 13,211,953 (GRCm39)	N113I		Het
Or8b1c	A	G	9: 38,384,913 (GRCm39)	Y290C	probably damaging	Het
Or9s18	G	T	13: 65,300,885 (GRCm39)	M282I	probably benign	Het
Pcdha8	T	A	18: 37,126,217 (GRCm39)	L233Q	probably damaging	Het
Pcdhga12	T	A	18: 37,901,389 (GRCm39)	F740L	probably damaging	Het
Pglyrp4	G	A	3: 90,638,151 (GRCm39)	G155D	probably damaging	Het
Piezo2	G	A	18: 63,519,347 (GRCm39)		probably benign	Het
Pirb	G	A	7: 3,720,617 (GRCm39)	R294C	possibly damaging	Het
Ppil1	A	T	17: 29,470,481 (GRCm39)	*167K	probably null	Het
Prdm10	G	T	9: 31,260,486 (GRCm39)	D647Y	probably damaging	Het
Prkn	A	G	17: 12,222,963 (GRCm39)	Y371C	probably damaging	Het
Prrc2b	T	A	2: 32,098,794 (GRCm39)	I702N	probably damaging	Het
Rnf26rt	A	T	6: 76,473,923 (GRCm39)	L231*	probably null	Het
Rtp4	T	A	16: 23,339,226 (GRCm39)		probably null	Het
Sema6c	A	G	3: 95,076,545 (GRCm39)	H277R	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc41a2	A	G	10: 83,119,631 (GRCm39)	L377P	probably damaging	Het
Svil	T	C	18: 5,058,126 (GRCm39)	Y630H	possibly damaging	Het
Tbata	A	G	10: 61,011,626 (GRCm39)	H54R	probably benign	Het
Tnfaip2	C	A	12: 111,412,069 (GRCm39)	Q157K	possibly damaging	Het
Trappc14	T	C	5: 138,259,862 (GRCm39)	D398G	probably damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Vmn2r74	T	A	7: 85,610,619 (GRCm39)	R24S	probably benign	Het
Vmn2r90	G	A	17: 17,953,638 (GRCm39)	V601M	possibly damaging	Het
Vmn2r-ps117	A	G	17: 19,043,940 (GRCm39)	T339A	probably benign	Het
Xirp2	C	T	2: 67,341,106 (GRCm39)	H1116Y	possibly damaging	Het
Xrcc1	A	G	7: 24,265,690 (GRCm39)	D156G	probably benign	Het

Other mutations in Epas1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01934:Epas1	APN	17	87,131,157 (GRCm39)	missense	probably damaging	1.00
IGL02150:Epas1	APN	17	87,112,717 (GRCm39)	missense	probably damaging	1.00
IGL02221:Epas1	APN	17	87,135,275 (GRCm39)	missense	possibly damaging	0.50
IGL02555:Epas1	APN	17	87,136,492 (GRCm39)	missense	probably benign
IGL02739:Epas1	APN	17	87,112,710 (GRCm39)	missense	probably damaging	0.98
IGL03389:Epas1	APN	17	87,131,131 (GRCm39)	missense	probably benign	0.10
R0043:Epas1	UTSW	17	87,131,240 (GRCm39)	missense	probably damaging	0.99
R0363:Epas1	UTSW	17	87,113,276 (GRCm39)	splice site	probably benign
R0399:Epas1	UTSW	17	87,112,621 (GRCm39)	missense	probably benign	0.01
R0737:Epas1	UTSW	17	87,136,884 (GRCm39)	missense	possibly damaging	0.45
R1542:Epas1	UTSW	17	87,131,918 (GRCm39)	missense	possibly damaging	0.67
R1662:Epas1	UTSW	17	87,136,455 (GRCm39)	missense	probably damaging	0.99
R1885:Epas1	UTSW	17	87,112,723 (GRCm39)	missense	probably damaging	1.00
R2197:Epas1	UTSW	17	87,136,471 (GRCm39)	missense	probably benign	0.01
R3056:Epas1	UTSW	17	87,138,409 (GRCm39)	missense	probably damaging	0.99
R4342:Epas1	UTSW	17	87,131,228 (GRCm39)	missense	probably damaging	1.00
R4391:Epas1	UTSW	17	87,117,091 (GRCm39)	missense	probably benign	0.00
R4774:Epas1	UTSW	17	87,113,186 (GRCm39)	missense	probably damaging	1.00
R4798:Epas1	UTSW	17	87,113,267 (GRCm39)	missense	probably benign
R4989:Epas1	UTSW	17	87,116,882 (GRCm39)	missense	probably damaging	1.00
R5133:Epas1	UTSW	17	87,116,882 (GRCm39)	missense	probably damaging	1.00
R5604:Epas1	UTSW	17	87,113,200 (GRCm39)	missense	probably damaging	1.00
R5811:Epas1	UTSW	17	87,131,203 (GRCm39)	missense	probably damaging	1.00
R5838:Epas1	UTSW	17	87,131,114 (GRCm39)	missense	possibly damaging	0.94
R5885:Epas1	UTSW	17	87,134,972 (GRCm39)	missense	probably damaging	1.00
R5932:Epas1	UTSW	17	87,135,074 (GRCm39)	missense	possibly damaging	0.66
R6045:Epas1	UTSW	17	87,116,827 (GRCm39)	missense	probably damaging	0.99
R6145:Epas1	UTSW	17	87,136,857 (GRCm39)	missense	probably benign	0.01
R7517:Epas1	UTSW	17	87,138,526 (GRCm39)	missense	possibly damaging	0.92
R7552:Epas1	UTSW	17	87,136,471 (GRCm39)	missense	probably benign	0.01
R7828:Epas1	UTSW	17	87,135,127 (GRCm39)	missense	probably benign	0.04
R8081:Epas1	UTSW	17	87,136,797 (GRCm39)	missense	probably benign
R8111:Epas1	UTSW	17	87,125,860 (GRCm39)	nonsense	probably null
R8558:Epas1	UTSW	17	87,116,896 (GRCm39)	missense	possibly damaging	0.89
R8948:Epas1	UTSW	17	87,134,920 (GRCm39)	missense	probably benign	0.01
R9074:Epas1	UTSW	17	87,135,267 (GRCm39)	missense	probably benign	0.41
R9204:Epas1	UTSW	17	87,116,873 (GRCm39)	missense	probably damaging	1.00
R9228:Epas1	UTSW	17	87,133,990 (GRCm39)	missense	possibly damaging	0.71
R9319:Epas1	UTSW	17	87,104,545 (GRCm39)	missense	possibly damaging	0.88
R9562:Epas1	UTSW	17	87,112,667 (GRCm39)	missense	probably damaging	1.00
R9565:Epas1	UTSW	17	87,112,667 (GRCm39)	missense	probably damaging	1.00
Z1176:Epas1	UTSW	17	87,135,374 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TTCTCAATGGACTCCTGGCG -3'
(R):5'- TCTGCAGGATAGGATAAGGCC -3'

Sequencing Primer
(F):5'- GAGACAGGCCCCGTGTTCTTAC -3'
(R):5'- GATCGCCCCTGGAGATTCTC -3'

Posted On

2022-09-12