Mutagenetix > Incidental Mutation

Incidental Mutation 'R5133:Epas1'

395978

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

042721-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5133 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

86753907-86833410 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86809454 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 184 (N184S)

Ref Sequence

ENSEMBL: ENSMUSP00000024954 (fasta)

Gene Model

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

AlphaFold

P97481

Predicted Effect

probably damaging
Transcript: ENSMUST00000024954
AA Change: N184S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: N184S

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

0.1885

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.0%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	C	T	18: 57,563,969 (GRCm38)	T65I	possibly damaging	Het
A3galt2	A	T	4: 128,762,141 (GRCm38)	T101S	probably damaging	Het
Abraxas2	C	T	7: 132,883,146 (GRCm38)	A306V	probably benign	Het
Acvr1c	T	A	2: 58,283,506 (GRCm38)	N248I	probably damaging	Het
Adgrv1	C	T	13: 81,439,441 (GRCm38)	R4537Q	probably damaging	Het
Adrb3	A	C	8: 27,227,770 (GRCm38)	M217R	probably damaging	Het
Afg3l1	T	C	8: 123,489,793 (GRCm38)	V257A	probably benign	Het
Agbl1	C	A	7: 76,422,156 (GRCm38)	Q334K	probably benign	Het
Aox4	A	T	1: 58,236,676 (GRCm38)	D389V	probably benign	Het
Apob	A	T	12: 8,008,898 (GRCm38)	Q2427L	probably damaging	Het
Asxl3	T	C	18: 22,516,708 (GRCm38)	C585R	probably damaging	Het
Baz2a	G	A	10: 128,116,126 (GRCm38)	G571D	probably damaging	Het
Baz2b	A	T	2: 59,962,024 (GRCm38)	S587T	probably benign	Het
Bicdl2	T	C	17: 23,661,821 (GRCm38)	L14P	unknown	Het
Cachd1	G	A	4: 100,994,738 (GRCm38)	S1177N	probably damaging	Het
Cacna2d3	A	G	14: 29,293,178 (GRCm38)	F86L	possibly damaging	Het
Cd3d	A	T	9: 44,984,998 (GRCm38)	E28D	probably damaging	Het
Cmya5	T	C	13: 93,093,372 (GRCm38)	K1736R	possibly damaging	Het
Col12a1	A	G	9: 79,605,174 (GRCm38)	V2913A	probably damaging	Het
Cops8	A	G	1: 90,611,002 (GRCm38)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,460,971 (GRCm38)	E194G	probably benign	Het
Csn1s1	A	G	5: 87,680,878 (GRCm38)	D267G	possibly damaging	Het
Cyp2c40	T	C	19: 39,807,219 (GRCm38)	N172S	probably benign	Het
Dhtkd1	T	A	2: 5,904,002 (GRCm38)	K760N	probably damaging	Het
Dnah17	T	C	11: 118,117,113 (GRCm38)	K691E	probably benign	Het
Dppa4	G	A	16: 48,292,971 (GRCm38)	R189Q	probably benign	Het
Dsp	G	A	13: 38,197,702 (GRCm38)	D2808N	possibly damaging	Het
Egr2	A	G	10: 67,539,775 (GRCm38)	E17G	probably damaging	Het
Ehmt1	G	T	2: 24,877,497 (GRCm38)	P135T	probably damaging	Het
Ezh2	C	T	6: 47,540,750 (GRCm38)	C584Y	probably damaging	Het
F10	T	C	8: 13,055,698 (GRCm38)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,312,387 (GRCm38)	T57I	probably benign	Het
Fam186a	T	G	15: 99,955,493 (GRCm38)	D122A	unknown	Het
Fam227b	G	A	2: 126,116,123 (GRCm38)	P241S	probably damaging	Het
Fam234b	T	C	6: 135,209,195 (GRCm38)	V67A	probably benign	Het
Fbn2	T	C	18: 58,039,340 (GRCm38)	D2131G	probably damaging	Het
Fgfr4	T	C	13: 55,160,015 (GRCm38)	Y271H	probably damaging	Het
Gm960	T	A	19: 4,658,421 (GRCm38)	S194C	probably damaging	Het
Gnmt	A	T	17: 46,725,934 (GRCm38)	S250T	probably benign	Het
Golgb1	C	A	16: 36,891,457 (GRCm38)	Q208K	possibly damaging	Het
Grn	C	A	11: 102,430,554 (GRCm38)		probably benign	Het
Grwd1	T	C	7: 45,825,874 (GRCm38)	T415A	probably benign	Het
Gsk3b	G	A	16: 38,240,520 (GRCm38)	R418H	probably damaging	Het
Hap1	T	G	11: 100,351,531 (GRCm38)	M382L	probably benign	Het
Hspa12b	A	G	2: 131,139,508 (GRCm38)	E221G	possibly damaging	Het
Hspa4l	T	A	3: 40,786,747 (GRCm38)	D709E	possibly damaging	Het
Il17ra	A	G	6: 120,481,553 (GRCm38)	E555G	possibly damaging	Het
Il27ra	T	C	8: 84,034,059 (GRCm38)	T426A	possibly damaging	Het
Jup	T	C	11: 100,383,115 (GRCm38)	D200G	probably benign	Het
Kcnq1	T	C	7: 143,194,346 (GRCm38)		probably null	Het
Kctd9	C	T	14: 67,729,356 (GRCm38)	T106I	probably damaging	Het
Kmt5b	T	A	19: 3,802,240 (GRCm38)	H159Q	probably damaging	Het
Kprp	C	T	3: 92,824,522 (GRCm38)	R407Q	unknown	Het
Kras	T	C	6: 145,232,153 (GRCm38)	Q131R	probably benign	Het
Krt16	T	A	11: 100,247,631 (GRCm38)	R230S	probably damaging	Het
Lpar6	G	A	14: 73,238,707 (GRCm38)	C36Y	probably damaging	Het
Lrp10	T	C	14: 54,469,610 (GRCm38)	S635P	probably benign	Het
Mapre2	C	A	18: 23,858,133 (GRCm38)	H153N	possibly damaging	Het
Mark3	C	A	12: 111,655,328 (GRCm38)	R703S	probably damaging	Het
Mboat2	A	G	12: 24,959,066 (GRCm38)	D457G	probably benign	Het
Med13	T	C	11: 86,319,849 (GRCm38)	D489G	probably benign	Het
Msh2	C	A	17: 87,723,413 (GRCm38)	A906E	probably benign	Het
Mtus1	T	C	8: 41,083,192 (GRCm38)	T496A	probably benign	Het
Mum1	T	C	10: 80,232,868 (GRCm38)	L282P	probably benign	Het
Nckap5	T	C	1: 126,033,960 (GRCm38)	H204R	probably benign	Het
Nlrc4	G	T	17: 74,446,717 (GRCm38)	P224T	possibly damaging	Het
Olfr1221	A	T	2: 89,111,796 (GRCm38)		probably null	Het
Olfr1434	T	C	19: 12,283,306 (GRCm38)	L86P	possibly damaging	Het
Olfr1480	T	A	19: 13,530,078 (GRCm38)	M135K	probably damaging	Het
Olfr60	A	T	7: 140,345,323 (GRCm38)	I222N	probably damaging	Het
Oprl1	T	A	2: 181,718,610 (GRCm38)	I153N	probably damaging	Het
Otud4	G	A	8: 79,655,689 (GRCm38)	V176I	probably damaging	Het
Pcdhb5	T	C	18: 37,320,890 (GRCm38)	F108L	probably benign	Het
Pde8b	T	C	13: 95,086,742 (GRCm38)	I335V	probably benign	Het
Pdzd7	T	A	19: 45,028,429 (GRCm38)	I886L	possibly damaging	Het
Prune2	C	T	19: 17,003,631 (GRCm38)	P51S	probably damaging	Het
Ptpre	C	T	7: 135,669,132 (GRCm38)	H346Y	probably benign	Het
Rab27b	T	C	18: 69,989,588 (GRCm38)	D100G	probably damaging	Het
Rpf1	A	G	3: 146,506,538 (GRCm38)	L349S	probably damaging	Het
Samd14	T	C	11: 95,021,583 (GRCm38)	S233P	probably damaging	Het
Sema6a	C	A	18: 47,300,128 (GRCm38)	V79F	probably damaging	Het
Setbp1	A	G	18: 78,857,482 (GRCm38)	I990T	probably damaging	Het
Setx	A	G	2: 29,180,081 (GRCm38)	R2633G	probably benign	Het
Siae	T	G	9: 37,646,520 (GRCm38)	I541S	possibly damaging	Het
Slc13a1	A	G	6: 24,103,429 (GRCm38)	S372P	possibly damaging	Het
Smarcc2	T	C	10: 128,461,473 (GRCm38)		probably null	Het
Snrpf	T	C	10: 93,588,123 (GRCm38)	S2G	probably benign	Het
Speer2	C	A	16: 69,858,820 (GRCm38)	K39N	probably null	Het
Spink5	T	G	18: 43,986,423 (GRCm38)	F267C	probably damaging	Het
Tgfbrap1	G	T	1: 43,075,506 (GRCm38)	R145S	probably damaging	Het
Tmem161b	C	A	13: 84,294,768 (GRCm38)	T269K	possibly damaging	Het
Tmem64	T	C	4: 15,281,119 (GRCm38)	I304T	probably damaging	Het
Tomm7	A	G	5: 23,844,006 (GRCm38)	I23T	probably benign	Het
Ttn	A	T	2: 76,811,243 (GRCm38)	L5176Q	possibly damaging	Het
Ttr	C	T	18: 20,670,110 (GRCm38)	A111V	possibly damaging	Het
Usp47	T	A	7: 112,083,882 (GRCm38)	Y561N	probably damaging	Het
Vmn1r17	A	G	6: 57,360,843 (GRCm38)	V130A	probably benign	Het
Wdr45b	A	G	11: 121,328,795 (GRCm38)	I309T	probably benign	Het
Wnt6	T	C	1: 74,784,596 (GRCm38)	L364P	probably damaging	Het
Zc3h13	T	C	14: 75,336,009 (GRCm38)	L1530P	probably damaging	Het
Zfp933	A	G	4: 147,826,864 (GRCm38)	W60R	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
R0399:Epas1	UTSW	17	86,805,193 (GRCm38)	missense	probably benign	0.01
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
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'- GGCTACACGCACTCTACTAC -3'
(R):5'- CTGGATTGGCTCACACATGATG -3'

Sequencing Primer
(F):5'- GCACTCTACTACAAACCACAGGAG -3'
(R):5'- TTGGCTCACACATGATGATAAGGC -3'

Posted On

2016-06-21