Mutagenetix > Incidental Mutation

Incidental Mutation 'R8558:Epas1'

660890

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

068521-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8558 (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 C at 87116896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 189 (T189P)

Ref Sequence

ENSEMBL: ENSMUSP00000024954 (fasta)

Gene Model

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

AlphaFold

P97481

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024954
AA Change: T189P

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: T189P

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: 99.5%
20x: 98.5%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,430,497 (GRCm39)	R51S	probably benign	Het
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
Abcb5	T	C	12: 118,841,566 (GRCm39)	T960A	probably benign	Het
Abcc3	A	G	11: 94,242,623 (GRCm39)		probably null	Het
Adamtsl3	A	T	7: 82,077,600 (GRCm39)	D95V	possibly damaging	Het
Ash1l	T	A	3: 88,891,713 (GRCm39)	S1197R	probably damaging	Het
BC034090	T	A	1: 155,097,085 (GRCm39)	H671L	possibly damaging	Het
Bltp1	T	A	3: 37,102,750 (GRCm39)	M1443K		Het
Btnl9	T	C	11: 49,071,619 (GRCm39)	E68G	probably benign	Het
C1qtnf1	A	T	11: 118,339,149 (GRCm39)	Y273F	probably damaging	Het
C4b	A	T	17: 34,955,541 (GRCm39)	C714S	probably damaging	Het
Carmil1	G	A	13: 24,209,863 (GRCm39)	T1204I	probably benign	Het
Cdk12	T	C	11: 98,101,915 (GRCm39)	L591P	unknown	Het
Ces2f	T	A	8: 105,679,758 (GRCm39)	L417*	probably null	Het
Chl1	T	A	6: 103,685,390 (GRCm39)	S810R	probably benign	Het
Ckap2	A	G	8: 22,658,811 (GRCm39)	V644A	possibly damaging	Het
Ctdsp2	T	A	10: 126,829,746 (GRCm39)	V126E	probably damaging	Het
Dok6	G	T	18: 89,492,066 (GRCm39)	H170Q	probably damaging	Het
Dynlrb1	T	C	2: 155,084,728 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,083,795 (GRCm39)	L757S	probably damaging	Het
Epha10	C	A	4: 124,788,777 (GRCm39)	N283K		Het
Epha5	C	A	5: 84,206,975 (GRCm39)	G853C	probably damaging	Het
Gapvd1	A	T	2: 34,594,493 (GRCm39)	H831Q	probably damaging	Het
Gcnt3	T	A	9: 69,941,996 (GRCm39)	K191*	probably null	Het
Gm14226	T	A	2: 154,866,909 (GRCm39)	S289T	probably benign	Het
Gm4846	T	A	1: 166,314,674 (GRCm39)	D323V	probably damaging	Het
Golga3	G	T	5: 110,356,421 (GRCm39)	R1036L	possibly damaging	Het
Gopc	T	C	10: 52,229,580 (GRCm39)	Q213R	probably damaging	Het
Hrh1	G	A	6: 114,457,564 (GRCm39)	V282M	probably benign	Het
Ighv5-4	T	C	12: 113,561,078 (GRCm39)	Y114C	probably damaging	Het
Igkv10-94	A	T	6: 68,681,636 (GRCm39)	I68N	probably damaging	Het
Kcnj3	A	G	2: 55,336,875 (GRCm39)	D247G	possibly damaging	Het
Lcn6	C	A	2: 25,570,718 (GRCm39)	S102Y	probably damaging	Het
Matk	C	A	10: 81,096,765 (GRCm39)	H232N	probably benign	Het
Mcm9	C	T	10: 53,492,068 (GRCm39)	V366I	probably benign	Het
Nadk	A	G	4: 155,669,844 (GRCm39)	I176V	probably benign	Het
Nlrp12	A	G	7: 3,298,111 (GRCm39)	L20P	probably damaging	Het
Oga	T	C	19: 45,746,511 (GRCm39)	S763G	probably benign	Het
Or10ag56	A	T	2: 87,139,583 (GRCm39)	Q170L	probably benign	Het
Or1e21	G	A	11: 73,344,309 (GRCm39)	S243F	probably damaging	Het
Or4a72	A	G	2: 89,405,329 (GRCm39)	L247P	probably damaging	Het
Pcdhgb6	T	A	18: 37,877,237 (GRCm39)	D648E	probably damaging	Het
Pkd1l3	A	T	8: 110,362,012 (GRCm39)	N1018I	probably damaging	Het
Plch2	T	C	4: 155,083,391 (GRCm39)	K516E	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pnma2	C	T	14: 67,153,972 (GRCm39)	A132V	probably benign	Het
Prkn	T	C	17: 11,456,472 (GRCm39)	S99P	probably benign	Het
Prune2	A	G	19: 17,099,602 (GRCm39)	E1702G	probably damaging	Het
Qars1	T	A	9: 108,392,422 (GRCm39)	H756Q	probably benign	Het
Rab5a	A	G	17: 53,790,877 (GRCm39)		probably benign	Het
Rars2	A	G	4: 34,657,199 (GRCm39)	D515G	probably damaging	Het
Rpe65	T	A	3: 159,320,429 (GRCm39)	C329S	probably damaging	Het
Rps6ka2	G	A	17: 7,523,316 (GRCm39)	V231M	possibly damaging	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
Scrt1	G	T	15: 76,403,843 (GRCm39)	S49*	probably null	Het
Sec23b	C	G	2: 144,428,308 (GRCm39)	D640E	possibly damaging	Het
Setdb1	C	T	3: 95,261,979 (GRCm39)	V96M	possibly damaging	Het
Sik3	C	A	9: 46,066,746 (GRCm39)	A175E	probably damaging	Het
Smarcad1	A	G	6: 65,060,908 (GRCm39)	K463E	probably benign	Het
Sobp	A	C	10: 43,003,888 (GRCm39)	C154G	probably damaging	Het
Sox6	A	G	7: 115,141,033 (GRCm39)	S482P	probably benign	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Spink11	T	A	18: 44,324,748 (GRCm39)	R75*	probably null	Het
Sptb	T	C	12: 76,659,561 (GRCm39)	H1113R	probably benign	Het
Sypl2	A	T	3: 108,125,004 (GRCm39)	V119E	probably damaging	Het
Tbc1d24	T	C	17: 24,427,903 (GRCm39)	S20G	unknown	Het
Tektl1	T	C	10: 78,583,035 (GRCm39)	K450E	probably damaging	Het
Top2a	A	T	11: 98,912,549 (GRCm39)	V106D	probably damaging	Het
Tspyl4	G	C	10: 34,174,261 (GRCm39)	R251P	probably damaging	Het
Ttc21a	T	A	9: 119,787,835 (GRCm39)	L801Q	probably damaging	Het
Vgll3	A	G	16: 65,624,844 (GRCm39)	E64G	probably damaging	Het
Vmn2r30	A	G	7: 7,315,655 (GRCm39)	I726T	possibly damaging	Het
Vmn2r81	T	C	10: 79,106,467 (GRCm39)	S482P	possibly damaging	Het
Wasf1	T	G	10: 40,806,648 (GRCm39)	M97R	possibly damaging	Het
Wdr33	T	A	18: 31,962,947 (GRCm39)	M98K	probably benign	Het
Wdr73	G	A	7: 80,548,254 (GRCm39)	T95I	probably damaging	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
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
R9607:Epas1	UTSW	17	87,134,038 (GRCm39)	missense	probably benign	0.04
Z1176:Epas1	UTSW	17	87,135,374 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- ACAAGTTGCCCAGAAACATTG -3'
(R):5'- GGCTCACACATGATGATAAGGC -3'

Sequencing Primer
(F):5'- GTTGCCCAGAAACATTGTAATTTGG -3'
(R):5'- CTCACACATGATGATAAGGCAGGAC -3'

Posted On

2021-03-08