Mutagenetix > Incidental Mutation

Incidental Mutation 'R0399:Epas1'

38086

Institutional Source

Beutler Lab

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

MMRRC Submission

038604-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0399 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86753907-86833410 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86805193 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 73 (V73A)

Ref Sequence

ENSEMBL: ENSMUSP00000024954 (fasta)

Gene Model

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

AlphaFold

P97481

Predicted Effect

probably benign
Transcript: ENSMUST00000024954
AA Change: V73A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: V73A

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

Meta Mutation Damage Score

0.0584

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

99% (71/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,750,959 (GRCm38)		probably benign	Het
6030452D12Rik	T	C	8: 106,504,542 (GRCm38)	M120T	unknown	Het
Actr1a	A	T	19: 46,385,011 (GRCm38)		probably null	Het
AI314180	T	C	4: 58,827,047 (GRCm38)	T1029A	possibly damaging	Het
Anapc5	A	T	5: 122,791,753 (GRCm38)	V555D	probably damaging	Het
Aox1	A	G	1: 58,068,849 (GRCm38)		probably null	Het
Arhgap30	A	G	1: 171,404,816 (GRCm38)	E343G	probably damaging	Het
Asap2	C	T	12: 21,217,997 (GRCm38)	T291I	possibly damaging	Het
Atp5a1	T	A	18: 77,781,836 (GRCm38)	Y439*	probably null	Het
Auts2	A	T	5: 131,440,524 (GRCm38)	S428T	probably benign	Het
B3gnt7	T	A	1: 86,305,711 (GRCm38)	C109*	probably null	Het
C4b	C	A	17: 34,728,869 (GRCm38)	Q1657H	probably damaging	Het
Cadm2	A	T	16: 66,747,339 (GRCm38)	L268*	probably null	Het
Cep290	G	A	10: 100,554,400 (GRCm38)		probably benign	Het
Cep68	T	G	11: 20,230,571 (GRCm38)	I687L	probably benign	Het
Chd6	T	A	2: 161,052,688 (GRCm38)	D84V	probably damaging	Het
Clpx	A	G	9: 65,322,769 (GRCm38)	T514A	probably benign	Het
Cox18	A	T	5: 90,215,028 (GRCm38)	C324S	probably benign	Het
Cryzl2	T	C	1: 157,462,016 (GRCm38)	Y75H	probably damaging	Het
Cxcr6	C	T	9: 123,810,951 (GRCm38)	A339V	possibly damaging	Het
Dock1	T	C	7: 135,163,442 (GRCm38)	L1721P	probably benign	Het
Dstyk	T	C	1: 132,453,080 (GRCm38)		probably benign	Het
Ehf	A	G	2: 103,266,870 (GRCm38)	Y246H	probably damaging	Het
Filip1	A	G	9: 79,818,310 (GRCm38)	I1009T	possibly damaging	Het
Glis3	A	T	19: 28,298,768 (GRCm38)		probably benign	Het
Gm17333	A	T	16: 77,852,790 (GRCm38)		noncoding transcript	Het
Gpc1	G	A	1: 92,857,309 (GRCm38)	R358H	possibly damaging	Het
Gpr155	A	T	2: 73,370,002 (GRCm38)	I387N	possibly damaging	Het
Gria1	A	G	11: 57,186,027 (GRCm38)	D83G	probably damaging	Het
Grid2	A	G	6: 64,666,052 (GRCm38)	I933V	probably benign	Het
Hhatl	C	T	9: 121,788,762 (GRCm38)	A254T	probably benign	Het
Hook2	A	G	8: 84,993,567 (GRCm38)		probably benign	Het
Ift140	T	A	17: 25,050,340 (GRCm38)	S656R	possibly damaging	Het
Il11ra1	A	T	4: 41,766,185 (GRCm38)	T241S	probably benign	Het
Kank1	A	G	19: 25,411,242 (GRCm38)	I760V	probably benign	Het
Kansl1	T	C	11: 104,424,132 (GRCm38)	E360G	possibly damaging	Het
Klf9	A	T	19: 23,142,082 (GRCm38)	S110C	probably damaging	Het
Klhl31	A	G	9: 77,650,653 (GRCm38)	N217S	probably benign	Het
Lct	T	C	1: 128,300,525 (GRCm38)	Y1077C	probably damaging	Het
Lrrc49	A	T	9: 60,610,246 (GRCm38)		probably benign	Het
Lrrn1	T	A	6: 107,569,120 (GRCm38)	H626Q	probably benign	Het
Mmp28	A	T	11: 83,451,732 (GRCm38)	L40Q	probably damaging	Het
Mroh1	C	T	15: 76,452,099 (GRCm38)	A1530V	probably benign	Het
Myo1e	A	G	9: 70,301,793 (GRCm38)		probably benign	Het
Naa25	A	T	5: 121,435,490 (GRCm38)	M761L	probably benign	Het
Ncln	G	A	10: 81,488,297 (GRCm38)	A465V	probably damaging	Het
Nktr	A	G	9: 121,731,484 (GRCm38)	N98S	probably damaging	Het
Olfr1012	T	C	2: 85,759,904 (GRCm38)	I157M	possibly damaging	Het
Olfr215	C	A	6: 116,582,781 (GRCm38)	S55I	probably benign	Het
Olfr651	T	A	7: 104,553,369 (GRCm38)	V150E	probably benign	Het
Olfr76	G	C	19: 12,120,370 (GRCm38)	A114G	possibly damaging	Het
Olfr878	G	T	9: 37,919,553 (GRCm38)	A304S	possibly damaging	Het
Pacsin2	T	C	15: 83,386,782 (GRCm38)	Y222C	probably damaging	Het
Pcdhb15	C	T	18: 37,474,168 (GRCm38)	T151M	possibly damaging	Het
Plcz1	C	A	6: 140,023,230 (GRCm38)	V161L	possibly damaging	Het
Ppp6c	G	A	2: 39,200,124 (GRCm38)		probably benign	Het
Rhbdf2	T	A	11: 116,603,992 (GRCm38)	Y286F	probably benign	Het
Rtn3	A	T	19: 7,457,876 (GRCm38)	D231E	probably damaging	Het
Slc35c2	A	C	2: 165,280,895 (GRCm38)	Y156*	probably null	Het
Spata46	A	G	1: 170,311,537 (GRCm38)	D35G	probably damaging	Het
Tmed3	A	G	9: 89,702,873 (GRCm38)	F110L	possibly damaging	Het
Tmem104	T	G	11: 115,201,308 (GRCm38)		probably benign	Het
Tpbg	T	A	9: 85,844,938 (GRCm38)	V320E	possibly damaging	Het
Trib2	T	C	12: 15,793,663 (GRCm38)	D190G	probably damaging	Het
Tspan2	A	G	3: 102,759,385 (GRCm38)	T26A	probably damaging	Het
Usp17lb	A	C	7: 104,841,151 (GRCm38)	Y190D	possibly damaging	Het
Utp18	C	T	11: 93,880,147 (GRCm38)		probably benign	Het
Utp20	A	T	10: 88,820,979 (GRCm38)	D121E	probably damaging	Het
Vmn1r80	T	A	7: 12,193,317 (GRCm38)	M118K	possibly damaging	Het
Vmn1r84	T	C	7: 12,361,867 (GRCm38)	S300G	probably benign	Het

Other mutations in Epas1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01934:Epas1	APN	17	86,823,729 (GRCm38)	missense	probably damaging	1.00
IGL02150:Epas1	APN	17	86,805,289 (GRCm38)	missense	probably damaging	1.00
IGL02221:Epas1	APN	17	86,827,847 (GRCm38)	missense	possibly damaging	0.50
IGL02555:Epas1	APN	17	86,829,064 (GRCm38)	missense	probably benign
IGL02739:Epas1	APN	17	86,805,282 (GRCm38)	missense	probably damaging	0.98
IGL03389:Epas1	APN	17	86,823,703 (GRCm38)	missense	probably benign	0.10
R0043:Epas1	UTSW	17	86,823,812 (GRCm38)	missense	probably damaging	0.99
R0363:Epas1	UTSW	17	86,805,848 (GRCm38)	splice site	probably benign
R0737:Epas1	UTSW	17	86,829,456 (GRCm38)	missense	possibly damaging	0.45
R1542:Epas1	UTSW	17	86,824,490 (GRCm38)	missense	possibly damaging	0.67
R1662:Epas1	UTSW	17	86,829,027 (GRCm38)	missense	probably damaging	0.99
R1885:Epas1	UTSW	17	86,805,295 (GRCm38)	missense	probably damaging	1.00
R2197:Epas1	UTSW	17	86,829,043 (GRCm38)	missense	probably benign	0.01
R3056:Epas1	UTSW	17	86,830,981 (GRCm38)	missense	probably damaging	0.99
R4342:Epas1	UTSW	17	86,823,800 (GRCm38)	missense	probably damaging	1.00
R4391:Epas1	UTSW	17	86,809,663 (GRCm38)	missense	probably benign	0.00
R4774:Epas1	UTSW	17	86,805,758 (GRCm38)	missense	probably damaging	1.00
R4798:Epas1	UTSW	17	86,805,839 (GRCm38)	missense	probably benign
R4989:Epas1	UTSW	17	86,809,454 (GRCm38)	missense	probably damaging	1.00
R5133:Epas1	UTSW	17	86,809,454 (GRCm38)	missense	probably damaging	1.00
R5604:Epas1	UTSW	17	86,805,772 (GRCm38)	missense	probably damaging	1.00
R5811:Epas1	UTSW	17	86,823,775 (GRCm38)	missense	probably damaging	1.00
R5838:Epas1	UTSW	17	86,823,686 (GRCm38)	missense	possibly damaging	0.94
R5885:Epas1	UTSW	17	86,827,544 (GRCm38)	missense	probably damaging	1.00
R5932:Epas1	UTSW	17	86,827,646 (GRCm38)	missense	possibly damaging	0.66
R6045:Epas1	UTSW	17	86,809,399 (GRCm38)	missense	probably damaging	0.99
R6145:Epas1	UTSW	17	86,829,429 (GRCm38)	missense	probably benign	0.01
R7517:Epas1	UTSW	17	86,831,098 (GRCm38)	missense	possibly damaging	0.92
R7552:Epas1	UTSW	17	86,829,043 (GRCm38)	missense	probably benign	0.01
R7828:Epas1	UTSW	17	86,827,699 (GRCm38)	missense	probably benign	0.04
R8081:Epas1	UTSW	17	86,829,369 (GRCm38)	missense	probably benign
R8111:Epas1	UTSW	17	86,818,432 (GRCm38)	nonsense	probably null
R8558:Epas1	UTSW	17	86,809,468 (GRCm38)	missense	possibly damaging	0.89
R8948:Epas1	UTSW	17	86,827,492 (GRCm38)	missense	probably benign	0.01
R9074:Epas1	UTSW	17	86,827,839 (GRCm38)	missense	probably benign	0.41
R9204:Epas1	UTSW	17	86,809,445 (GRCm38)	missense	probably damaging	1.00
R9228:Epas1	UTSW	17	86,826,562 (GRCm38)	missense	possibly damaging	0.71
R9319:Epas1	UTSW	17	86,797,117 (GRCm38)	missense	possibly damaging	0.88
R9562:Epas1	UTSW	17	86,805,239 (GRCm38)	missense	probably damaging	1.00
R9565:Epas1	UTSW	17	86,805,239 (GRCm38)	missense	probably damaging	1.00
R9607:Epas1	UTSW	17	86,826,610 (GRCm38)	missense	probably benign	0.04
Z1176:Epas1	UTSW	17	86,827,946 (GRCm38)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- ACGCTGTCCCACAGTCATTGTC -3'
(R):5'- GCAGCCACAAGGAATGTCAAGC -3'

Sequencing Primer
(F):5'- CAGTCATTGTCAATGTGGCCTG -3'
(R):5'- TTTCCTACTGAACGAGGCAG -3'

Posted On

2013-05-23