|Institutional Source||Beutler Lab|
|Gene Name||endothelial PAS domain protein 1|
|Synonyms||HIF-2alpha, HRF, HLF, bHLHe73, hypoxia inducible transcription factor 2alpha, HIF2A, MOP2, Hif like protein|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4391 (G1)|
|Chromosomal Location||86753907-86833410 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 86809663 bp|
|Amino Acid Change||Leucine to Proline at position 218 (L218P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024954 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024954]|
|Predicted Effect||probably benign
AA Change: L218P
PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
AA Change: L218P
|Meta Mutation Damage Score||0.0601|
|Coding Region Coverage||
|Validation Efficiency||100% (40/40)|
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||
|Other mutations in Epas1||
(F):5'- CGGACTGTCAACCTCAAGTC -3'
(R):5'- TGTCACACTCTCACAGATGC -3'
(F):5'- TCAAGTCGGCCACCTGGAAG -3'
(R):5'- TCTCACAGATGCACACTGGTAAG -3'