Mutagenetix > Incidental Mutation

Incidental Mutation 'R5604:Epas1'

439217

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

043156-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86753907-86833410 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86805772 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 129 (H129Y)

Ref Sequence

ENSEMBL: ENSMUSP00000024954 (fasta)

Gene Model

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

AlphaFold

P97481

Predicted Effect

probably damaging
Transcript: ENSMUST00000024954
AA Change: H129Y

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

SMART Domains

Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: H129Y

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: 99.7%
10x: 98.6%
20x: 96.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,759,390	N164I	possibly damaging	Het
4933402J07Rik	C	A	8: 87,568,497	R88S	possibly damaging	Het
Abca1	A	T	4: 53,067,168		probably null	Het
Abca13	T	A	11: 9,566,279	I4406K	probably damaging	Het
Adam6b	T	A	12: 113,490,800	Y412*	probably null	Het
Ahcyl2	C	T	6: 29,908,367	H370Y	probably damaging	Het
Ahi1	A	G	10: 20,987,005	Y693C	probably damaging	Het
Anapc4	T	A	5: 52,841,734	Y129*	probably null	Het
Ankrd35	A	G	3: 96,684,899	T834A	probably benign	Het
Antxr2	T	C	5: 97,948,310	K372E	probably damaging	Het
Arhgef1	C	T	7: 24,912,785	H198Y	probably benign	Het
Barhl2	T	C	5: 106,455,546	E249G	probably benign	Het
C2cd5	T	C	6: 143,012,021	E987G	probably benign	Het
C87436	T	C	6: 86,447,355	S290P	probably benign	Het
Ccser1	C	T	6: 61,313,804	T490M	probably damaging	Het
Cd8b1	T	C	6: 71,326,175	V78A	probably benign	Het
Cdc25c	A	G	18: 34,733,648	Y374H	probably damaging	Het
Cmya5	C	T	13: 93,092,763	R1939H	probably benign	Het
Cyp2d40	A	G	15: 82,764,055	F19S	probably damaging	Het
Dll3	A	G	7: 28,294,632	V460A	probably benign	Het
Dnajb12	GC	G	10: 59,892,752		probably null	Het
E4f1	A	G	17: 24,444,144	I729T	probably damaging	Het
Endou	A	C	15: 97,720,919	S75A	probably benign	Het
Grm1	T	A	10: 10,746,735	N415Y	probably damaging	Het
Hdc	A	T	2: 126,594,663	S429R	probably benign	Het
Hnf4g	C	T	3: 3,657,126	Q447*	probably null	Het
Htr6	C	T	4: 139,061,503	A414T	probably benign	Het
Insig1	T	C	5: 28,075,082	L224P	probably damaging	Het
Ipo9	G	A	1: 135,402,245	L486F	probably damaging	Het
Irak2	T	A	6: 113,690,831	S458T	possibly damaging	Het
Irs2	A	G	8: 11,005,007	S1142P	possibly damaging	Het
Kirrel	T	A	3: 87,089,155	N379I	possibly damaging	Het
L3mbtl4	T	A	17: 68,777,922	D609E	probably benign	Het
Lama3	A	G	18: 12,439,348	T537A	probably benign	Het
Lce1i	A	T	3: 92,777,749	V40E	unknown	Het
Mprip	T	A	11: 59,758,467	V999D	probably benign	Het
Myd88	G	T	9: 119,339,763	T85K	possibly damaging	Het
Olfr395	T	A	11: 73,907,027	H155L	probably benign	Het
Padi6	A	T	4: 140,731,162	M473K	probably damaging	Het
Pcdh12	T	A	18: 38,268,882	S97C	probably damaging	Het
Pkd1l1	T	A	11: 8,833,877	D2026V	probably damaging	Het
Plcxd1	T	C	5: 110,102,585	V264A	probably benign	Het
Plekha4	T	C	7: 45,549,156	S558P	probably damaging	Het
Ppm1a	T	A	12: 72,790,681	M334K	probably benign	Het
Ppp1r13l	T	C	7: 19,375,599	S684P	possibly damaging	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,893,123		probably null	Het
Prl2a1	T	C	13: 27,806,386		probably benign	Het
Ptch1	T	C	13: 63,525,122	K753E	probably benign	Het
Qrich1	A	G	9: 108,559,303		probably benign	Het
Ror2	G	A	13: 53,117,165	R373C	probably benign	Het
Rtn4	C	A	11: 29,708,140	L765I	probably damaging	Het
Sema3a	T	C	5: 13,473,520		probably null	Het
Setd2	T	A	9: 110,604,216	D62E	probably damaging	Het
Ss18	A	T	18: 14,636,520	Y327N	unknown	Het
Ticam1	G	A	17: 56,271,756	T113I	probably benign	Het
Tnrc6a	A	G	7: 123,174,236	I1134V	probably damaging	Het
Top3b	T	G	16: 16,889,535	Y526*	probably null	Het
Tph2	T	C	10: 115,090,709	E384G	probably damaging	Het
Ttll11	A	T	2: 35,817,786	I503N	probably benign	Het
Zfp87	T	G	13: 67,517,826	K172N	probably damaging	Het

Other mutations in Epas1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01934:Epas1	APN	17	86823729	missense	probably damaging	1.00
IGL02150:Epas1	APN	17	86805289	missense	probably damaging	1.00
IGL02221:Epas1	APN	17	86827847	missense	possibly damaging	0.50
IGL02555:Epas1	APN	17	86829064	missense	probably benign
IGL02739:Epas1	APN	17	86805282	missense	probably damaging	0.98
IGL03389:Epas1	APN	17	86823703	missense	probably benign	0.10
R0043:Epas1	UTSW	17	86823812	missense	probably damaging	0.99
R0363:Epas1	UTSW	17	86805848	splice site	probably benign
R0399:Epas1	UTSW	17	86805193	missense	probably benign	0.01
R0737:Epas1	UTSW	17	86829456	missense	possibly damaging	0.45
R1542:Epas1	UTSW	17	86824490	missense	possibly damaging	0.67
R1662:Epas1	UTSW	17	86829027	missense	probably damaging	0.99
R1885:Epas1	UTSW	17	86805295	missense	probably damaging	1.00
R2197:Epas1	UTSW	17	86829043	missense	probably benign	0.01
R3056:Epas1	UTSW	17	86830981	missense	probably damaging	0.99
R4342:Epas1	UTSW	17	86823800	missense	probably damaging	1.00
R4391:Epas1	UTSW	17	86809663	missense	probably benign	0.00
R4774:Epas1	UTSW	17	86805758	missense	probably damaging	1.00
R4798:Epas1	UTSW	17	86805839	missense	probably benign
R4989:Epas1	UTSW	17	86809454	missense	probably damaging	1.00
R5133:Epas1	UTSW	17	86809454	missense	probably damaging	1.00
R5811:Epas1	UTSW	17	86823775	missense	probably damaging	1.00
R5838:Epas1	UTSW	17	86823686	missense	possibly damaging	0.94
R5885:Epas1	UTSW	17	86827544	missense	probably damaging	1.00
R5932:Epas1	UTSW	17	86827646	missense	possibly damaging	0.66
R6045:Epas1	UTSW	17	86809399	missense	probably damaging	0.99
R6145:Epas1	UTSW	17	86829429	missense	probably benign	0.01
R7517:Epas1	UTSW	17	86831098	missense	possibly damaging	0.92
R7552:Epas1	UTSW	17	86829043	missense	probably benign	0.01
R7828:Epas1	UTSW	17	86827699	missense	probably benign	0.04
R8081:Epas1	UTSW	17	86829369	missense	probably benign
R8111:Epas1	UTSW	17	86818432	nonsense	probably null
R8558:Epas1	UTSW	17	86809468	missense	possibly damaging	0.89
R8948:Epas1	UTSW	17	86827492	missense	probably benign	0.01
R9074:Epas1	UTSW	17	86827839	missense	probably benign	0.41
R9204:Epas1	UTSW	17	86809445	missense	probably damaging	1.00
R9228:Epas1	UTSW	17	86826562	missense	possibly damaging	0.71
R9319:Epas1	UTSW	17	86797117	missense	possibly damaging	0.88
R9562:Epas1	UTSW	17	86805239	missense	probably damaging	1.00
R9565:Epas1	UTSW	17	86805239	missense	probably damaging	1.00
R9607:Epas1	UTSW	17	86826610	missense	probably benign	0.04
Z1176:Epas1	UTSW	17	86827946	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- AAATCAAGCCCTTGTTGCCATC -3'
(R):5'- GCTGCATACTCACCCAGAAG -3'

Sequencing Primer
(F):5'- CTGATACGTCTGTAAGTCCATAGACC -3'
(R):5'- GCTAGTCCAACTGTATCTATGGAAC -3'

Posted On

2016-10-26