Mutagenetix > Incidental Mutation

Incidental Mutation 'R1542:Epas1'

171876

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

039581-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1542 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87061292-87140838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87131918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 373 (I373N)

Ref Sequence

ENSEMBL: ENSMUSP00000024954 (fasta)

Gene Model

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

AlphaFold

P97481

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024954
AA Change: I373N

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: I373N

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: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,208,055 (GRCm39)	M208T	possibly damaging	Het
Acsbg2	T	A	17: 57,156,791 (GRCm39)	I416F	probably damaging	Het
Adam6b	G	A	12: 113,454,559 (GRCm39)	D459N	possibly damaging	Het
Adprh	A	T	16: 38,266,286 (GRCm39)	D285E	probably damaging	Het
Aggf1	A	T	13: 95,507,450 (GRCm39)	C112S	probably benign	Het
Als2cl	T	C	9: 110,723,102 (GRCm39)	V602A	probably benign	Het
Angptl2	G	T	2: 33,118,897 (GRCm39)	V224F	probably benign	Het
Ap3b2	A	T	7: 81,127,825 (GRCm39)		probably null	Het
Aqp2	A	C	15: 99,481,723 (GRCm39)	I206L	probably benign	Het
Asap2	A	G	12: 21,315,998 (GRCm39)	D930G	probably damaging	Het
Cacna1e	T	A	1: 154,353,525 (GRCm39)	M682L	probably benign	Het
Ccdc18	A	G	5: 108,360,054 (GRCm39)	N1146S	probably benign	Het
Ccr4	G	A	9: 114,321,073 (GRCm39)	H331Y	probably benign	Het
Cd33	A	G	7: 43,181,530 (GRCm39)	L210P	probably damaging	Het
Cep85l	T	C	10: 53,177,680 (GRCm39)	E351G	probably damaging	Het
Cntn6	C	A	6: 104,825,061 (GRCm39)	T867K	probably damaging	Het
Cpeb2	C	T	5: 43,443,218 (GRCm39)	R970C	probably damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dscaml1	T	A	9: 45,660,738 (GRCm39)	I1693K	possibly damaging	Het
Ebf4	A	T	2: 130,207,418 (GRCm39)	M621L	probably benign	Het
Elp4	G	T	2: 105,624,954 (GRCm39)	T313N	probably benign	Het
Etnk1	A	T	6: 143,126,367 (GRCm39)	M71L	probably benign	Het
Fry	C	T	5: 150,328,431 (GRCm39)	T1257I	probably benign	Het
Gm21834	A	G	17: 58,048,946 (GRCm39)	F90S	possibly damaging	Het
Gm8674	T	A	13: 50,054,039 (GRCm39)		noncoding transcript	Het
Gna11	T	C	10: 81,369,162 (GRCm39)	T134A	probably benign	Het
Golga5	C	T	12: 102,440,979 (GRCm39)	S238F	probably damaging	Het
Grin2a	T	A	16: 9,397,067 (GRCm39)	N1007Y	probably damaging	Het
H3c6	A	G	13: 23,746,338 (GRCm39)	F68L	probably damaging	Het
Ifnar2	G	A	16: 91,196,153 (GRCm39)	V253M	possibly damaging	Het
Insl5	A	T	4: 102,875,382 (GRCm39)	S123T	probably damaging	Het
Itgb2	T	C	10: 77,395,320 (GRCm39)	S474P	probably benign	Het
Kcnb2	A	G	1: 15,781,012 (GRCm39)	H628R	probably benign	Het
L3mbtl2	G	A	15: 81,566,352 (GRCm39)	D392N	probably null	Het
Lrp1b	G	T	2: 41,013,724 (GRCm39)	T1813K	probably damaging	Het
Map3k4	A	G	17: 12,454,793 (GRCm39)	L1399P	probably damaging	Het
Mbtps1	A	C	8: 120,272,986 (GRCm39)		probably null	Het
Mettl25	A	T	10: 105,661,981 (GRCm39)	S330T	probably benign	Het
Mical2	T	C	7: 111,908,675 (GRCm39)	L211P	probably damaging	Het
Mmrn1	T	A	6: 60,922,102 (GRCm39)	S186R	probably damaging	Het
Mob3b	C	A	4: 35,084,046 (GRCm39)	V48L	possibly damaging	Het
Napsa	A	T	7: 44,231,113 (GRCm39)	H114L	probably damaging	Het
Nsmce4a	A	T	7: 130,147,623 (GRCm39)		probably null	Het
Nup62	A	G	7: 44,479,353 (GRCm39)	K456R	possibly damaging	Het
Nwd2	T	A	5: 63,964,318 (GRCm39)	W1301R	probably damaging	Het
Oprm1	G	T	10: 6,738,960 (GRCm39)	W29L	probably damaging	Het
Or10al2	A	T	17: 37,983,142 (GRCm39)	E76V	probably damaging	Het
Or1l4b	T	A	2: 37,036,978 (GRCm39)	S251R	probably damaging	Het
Or2c1	T	A	16: 3,657,696 (GRCm39)	N286K	probably damaging	Het
Or5w17	A	G	2: 87,583,662 (GRCm39)	V225A	probably damaging	Het
Pals2	A	G	6: 50,175,306 (GRCm39)	Y539C	probably damaging	Het
Pcnt	T	G	10: 76,225,221 (GRCm39)	N1761T	probably benign	Het
Pcnt	C	T	10: 76,237,220 (GRCm39)	M1355I	probably benign	Het
Pde11a	A	T	2: 75,877,199 (GRCm39)	S757T	probably benign	Het
Pde6a	T	A	18: 61,390,116 (GRCm39)	I490N	possibly damaging	Het
Pgap1	A	G	1: 54,531,249 (GRCm39)	V742A	probably benign	Het
Pik3c2b	T	C	1: 133,017,772 (GRCm39)	L915P	probably damaging	Het
Pkd1l1	A	G	11: 8,824,179 (GRCm39)	C1129R	possibly damaging	Het
Pkhd1l1	A	T	15: 44,391,587 (GRCm39)	H1551L	probably benign	Het
Plxnb2	C	T	15: 89,050,124 (GRCm39)	C491Y	probably damaging	Het
Ppt1	C	A	4: 122,751,402 (GRCm39)	H300N	probably benign	Het
Prpf3	T	A	3: 95,743,782 (GRCm39)	Q457L	probably benign	Het
Ranbp17	C	T	11: 33,214,672 (GRCm39)	V914I	probably benign	Het
Rasal2	T	C	1: 157,003,421 (GRCm39)	I413V	possibly damaging	Het
Rb1cc1	G	A	1: 6,314,473 (GRCm39)	V382I	possibly damaging	Het
Rere	T	A	4: 150,700,399 (GRCm39)	F1125I	probably damaging	Het
Rprd2	A	T	3: 95,672,988 (GRCm39)	V805E	possibly damaging	Het
Septin10	T	G	10: 59,002,428 (GRCm39)	E162A	probably damaging	Het
Septin12	G	T	16: 4,810,159 (GRCm39)	D125E	probably benign	Het
Serpina6	A	G	12: 103,620,732 (GRCm39)	Y6H	probably benign	Het
Serpinb3c	T	C	1: 107,200,517 (GRCm39)	M209V	probably damaging	Het
Slc2a7	A	T	4: 150,252,928 (GRCm39)	T523S	probably damaging	Het
Smdt1	T	C	15: 82,230,376 (GRCm39)	V31A	possibly damaging	Het
Snrnp48	T	C	13: 38,404,680 (GRCm39)	I245T	probably damaging	Het
Spink2	G	A	5: 77,354,812 (GRCm39)	T33I	probably damaging	Het
Sptan1	A	G	2: 29,917,139 (GRCm39)	T2204A	probably damaging	Het
Synj2	A	G	17: 6,075,292 (GRCm39)	D306G	probably benign	Het
Tas2r109	A	G	6: 132,957,873 (GRCm39)	I19T	possibly damaging	Het
Tbk1	C	T	10: 121,395,840 (GRCm39)	V418M	probably benign	Het
Tcerg1	A	G	18: 42,686,495 (GRCm39)	E684G	probably damaging	Het
Tenm2	T	C	11: 36,191,047 (GRCm39)	N308S	probably damaging	Het
Tfb2m	A	T	1: 179,365,426 (GRCm39)		probably null	Het
Tmc1	T	A	19: 20,793,486 (GRCm39)	L558F	probably damaging	Het
Tmprss5	T	A	9: 49,020,434 (GRCm39)	I80N	possibly damaging	Het
Trappc2l	G	A	8: 123,342,146 (GRCm39)	V131M	probably damaging	Het
Trpm7	A	C	2: 126,664,519 (GRCm39)	Y953*	probably null	Het
Ttn	T	C	2: 76,583,859 (GRCm39)	R22383G	probably damaging	Het
Ugt1a6b	G	A	1: 88,034,983 (GRCm39)	G107D	probably benign	Het
Vmn1r197	A	T	13: 22,512,520 (GRCm39)	Y147F	probably benign	Het
Zfp507	A	T	7: 35,494,226 (GRCm39)	N272K	possibly damaging	Het
Zfp526	G	A	7: 24,925,687 (GRCm39)	E649K	probably benign	Het
Zswim6	G	A	13: 107,863,769 (GRCm39)		noncoding transcript	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
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
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'- TTGAGGCTAACCTCACCGTCTCTG -3'
(R):5'- GGCTAGGAAGTACGCACCGAAATC -3'

Sequencing Primer
(F):5'- CTCTGAGAGGTTTATCTACCAGGC -3'
(R):5'- TCGAGAGAAATAATGGCATCTCCTG -3'

Posted On

2014-04-13