Mutagenetix > Incidental Mutation

Incidental Mutation 'R6045:Epas1'

483817

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

044213-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6045 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87061292-87140838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87116827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 166 (R166S)

Ref Sequence

ENSEMBL: ENSMUSP00000024954 (fasta)

Gene Model

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

AlphaFold

P97481

Predicted Effect

probably damaging
Transcript: ENSMUST00000024954
AA Change: R166S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: R166S

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,955,996 (GRCm39)	Y87C	probably benign	Het
5530401A14Rik	A	G	11: 81,784,694 (GRCm39)		probably benign	Het
Adamts5	T	C	16: 85,696,188 (GRCm39)	D323G	probably damaging	Het
Albfm1	A	T	5: 90,732,848 (GRCm39)	Q553L	possibly damaging	Het
Bicc1	G	A	10: 70,792,911 (GRCm39)	R248*	probably null	Het
Bivm	T	G	1: 44,158,233 (GRCm39)		probably benign	Het
Btnl12	G	T	16: 37,676,384 (GRCm39)	Q128K	probably benign	Het
Ccdc8	A	C	7: 16,729,956 (GRCm39)	T482P	unknown	Het
Ccnb2	T	C	9: 70,326,375 (GRCm39)	I21V	probably benign	Het
Cfap73	A	T	5: 120,769,777 (GRCm39)	I82N	probably damaging	Het
Chd3	A	C	11: 69,242,944 (GRCm39)	F1426V	possibly damaging	Het
Clcn2	A	T	16: 20,530,438 (GRCm39)		probably null	Het
Col6a5	T	C	9: 105,803,117 (GRCm39)	N1283D	unknown	Het
Cyp39a1	G	T	17: 44,042,882 (GRCm39)	G411W	probably damaging	Het
D130052B06Rik	A	T	11: 33,574,008 (GRCm39)	I202L	unknown	Het
Defa38	A	T	8: 21,585,248 (GRCm39)	C65S	possibly damaging	Het
Dlgap1	T	C	17: 71,125,093 (GRCm39)	L948P	probably damaging	Het
Dnah3	C	T	7: 119,566,745 (GRCm39)	V2494M	probably damaging	Het
Dysf	T	A	6: 84,091,054 (GRCm39)	V1076D	probably damaging	Het
Eif2ak4	C	A	2: 118,219,296 (GRCm39)	S36*	probably null	Het
Elmod3	C	T	6: 72,545,851 (GRCm39)	R297H	probably benign	Het
Erv3	A	G	2: 131,697,942 (GRCm39)	L139P	probably damaging	Het
Fryl	A	G	5: 73,275,894 (GRCm39)	V90A	probably damaging	Het
Fxr2	A	G	11: 69,541,877 (GRCm39)	R439G	possibly damaging	Het
Gabrd	A	T	4: 155,470,931 (GRCm39)	V259D	possibly damaging	Het
Galnt10	A	G	11: 57,674,619 (GRCm39)	Y536C	probably damaging	Het
Gbp10	A	T	5: 105,366,269 (GRCm39)	L545Q	probably damaging	Het
Gfpt1	A	T	6: 87,062,239 (GRCm39)	I517F	probably damaging	Het
Glb1	T	C	9: 114,267,010 (GRCm39)	Y225H	probably damaging	Het
Gm1110	C	T	9: 26,794,505 (GRCm39)		probably null	Het
Gmps	C	T	3: 63,887,558 (GRCm39)	P10L	probably benign	Het
Greb1l	T	A	18: 10,547,068 (GRCm39)	V1465D	probably damaging	Het
Helz2	A	G	2: 180,882,106 (GRCm39)	V229A	probably benign	Het
Hipk1	A	T	3: 103,654,218 (GRCm39)	L924Q	probably benign	Het
Ifngr1	T	G	10: 19,484,909 (GRCm39)	L303V	possibly damaging	Het
Kif22	T	C	7: 126,630,250 (GRCm39)	N429D	probably benign	Het
Ktn1	T	C	14: 47,914,253 (GRCm39)	Y401H	probably damaging	Het
Lars2	T	G	9: 123,201,053 (GRCm39)	I39S	probably damaging	Het
Lipf	C	T	19: 33,944,244 (GRCm39)	A151V	probably damaging	Het
Lrp1	A	T	10: 127,402,469 (GRCm39)	M2234K	probably damaging	Het
Lrp1b	A	G	2: 40,591,825 (GRCm39)	V56A	unknown	Het
Lyar	T	A	5: 38,391,352 (GRCm39)	H350Q	probably benign	Het
Mill2	A	T	7: 18,590,489 (GRCm39)	M190L	probably benign	Het
Morc3	A	G	16: 93,671,733 (GRCm39)	D921G	probably damaging	Het
Mpp2	G	T	11: 101,950,180 (GRCm39)	T558K	probably benign	Het
Myh4	A	G	11: 67,135,550 (GRCm39)	D379G	probably benign	Het
Neb	A	C	2: 52,084,437 (GRCm39)		probably null	Het
Nedd1	G	A	10: 92,530,962 (GRCm39)	R376*	probably null	Het
Nlrc4	T	G	17: 74,753,954 (GRCm39)	D143A	probably damaging	Het
Nol10	G	T	12: 17,398,479 (GRCm39)		probably benign	Het
Opn1sw	A	G	6: 29,379,869 (GRCm39)	S122P	probably damaging	Het
Or10j3b	C	T	1: 173,044,067 (GRCm39)	T283I	possibly damaging	Het
Or4f14d	T	G	2: 111,960,881 (GRCm39)	I92L	possibly damaging	Het
Or52h7	C	T	7: 104,213,974 (GRCm39)	T182I	probably benign	Het
Or5an9	C	A	19: 12,187,659 (GRCm39)	A243D	probably damaging	Het
Or5h27	T	A	16: 59,006,454 (GRCm39)	T131S	probably benign	Het
Orm1	T	A	4: 63,262,929 (GRCm39)	I32N	possibly damaging	Het
Pcdhb5	T	A	18: 37,454,628 (GRCm39)	V336E	probably damaging	Het
Poli	C	T	18: 70,650,540 (GRCm39)	R363K	possibly damaging	Het
Rabgap1l	T	C	1: 160,472,893 (GRCm39)	E515G	probably benign	Het
Rem2	C	A	14: 54,715,225 (GRCm39)	T134N	probably damaging	Het
Rfc1	A	G	5: 65,436,892 (GRCm39)	I596T	probably damaging	Het
Ruvbl2	A	T	7: 45,074,433 (GRCm39)	I202N	probably damaging	Het
S100a6	T	A	3: 90,521,186 (GRCm39)	I38N	probably damaging	Het
Scel	T	C	14: 103,829,649 (GRCm39)	C435R	probably benign	Het
Slc6a13	T	A	6: 121,298,587 (GRCm39)	W146R	probably damaging	Het
Sorcs1	T	A	19: 50,178,555 (GRCm39)	K856*	probably null	Het
Speer4e1	T	G	5: 14,987,195 (GRCm39)	K70T	possibly damaging	Het
Sucla2	T	A	14: 73,806,404 (GRCm39)	C158*	probably null	Het
Tie1	G	A	4: 118,341,888 (GRCm39)	S187L	probably benign	Het
Tmem200a	T	C	10: 25,868,905 (GRCm39)	T455A	probably damaging	Het
Tra2a	A	G	6: 49,229,398 (GRCm39)		probably benign	Het
Tsnaxip1	A	C	8: 106,570,819 (GRCm39)	E615A	probably benign	Het
Tuba3b	T	A	6: 145,566,900 (GRCm39)	N380K	probably damaging	Het
Umod	C	T	7: 119,076,046 (GRCm39)	S240N	probably benign	Het
Vmn2r92	G	A	17: 18,388,305 (GRCm39)		probably null	Het
Vps13b	A	G	15: 35,671,462 (GRCm39)	E1655G	probably damaging	Het
Vwde	A	T	6: 13,219,935 (GRCm39)	I72N	probably damaging	Het
Wbp11	G	A	6: 136,798,533 (GRCm39)	A172V	probably damaging	Het
Zbtb41	T	A	1: 139,351,770 (GRCm39)	N294K	probably benign	Het
Zfhx4	T	A	3: 5,462,019 (GRCm39)	H1206Q	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
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
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'- ATTGAGCCAGGACTCAAGGC -3'
(R):5'- GTTGTAGACTCTCACTTGCCCG -3'

Posted On

2017-07-14