Incidental Mutation 'IGL03389:Epas1'
ID420994
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epas1
Ensembl Gene ENSMUSG00000024140
Gene Nameendothelial PAS domain protein 1
SynonymsHIF-2alpha, HRF, HLF, bHLHe73, hypoxia inducible transcription factor 2alpha, HIF2A, MOP2, Hif like protein
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03389
Quality Score
Status
Chromosome17
Chromosomal Location86753907-86833410 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 86823703 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 304 (S304T)
Ref Sequence ENSEMBL: ENSMUSP00000024954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024954]
Predicted Effect probably benign
Transcript: ENSMUST00000024954
AA Change: S304T

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: S304T

DomainStartEndE-ValueType
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
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 A T 1: 38,210,349 V559E possibly damaging Het
Alpk2 G T 18: 65,304,866 P1619Q possibly damaging Het
Amz1 C A 5: 140,752,027 F347L probably benign Het
Ank1 T C 8: 23,088,060 probably null Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Cdc16 A G 8: 13,759,179 Y48C probably damaging Het
Cul2 A G 18: 3,431,029 D538G probably benign Het
Cyp2j13 T A 4: 96,068,321 I184F probably damaging Het
Cyp4a12b A T 4: 115,433,808 R344S possibly damaging Het
Dis3 A G 14: 99,095,347 probably benign Het
Dnah17 T C 11: 118,094,979 H1424R probably damaging Het
Eef2 A G 10: 81,179,706 I354V probably benign Het
Elmo1 A G 13: 20,342,426 D382G probably damaging Het
Fry A T 5: 150,394,231 D892V probably damaging Het
Gprc5a G T 6: 135,083,825 D355Y possibly damaging Het
Hsd17b7 G A 1: 169,959,751 T228I probably damaging Het
Ift74 T C 4: 94,621,912 V60A possibly damaging Het
Insrr A T 3: 87,808,731 I578F probably damaging Het
Izumo1 T C 7: 45,624,189 F122S probably damaging Het
Lss G A 10: 76,536,339 R176H probably damaging Het
Ltb T C 17: 35,195,068 S61P probably benign Het
Maats1 C T 16: 38,324,136 probably null Het
Mybphl T C 3: 108,375,718 V274A probably benign Het
Myo9a T G 9: 59,869,607 L1096W probably damaging Het
Nlrc5 T A 8: 94,521,474 L1690H probably damaging Het
Nrap A T 19: 56,351,716 S790T probably benign Het
Nrcam A G 12: 44,549,906 D308G probably benign Het
Olfr346 A G 2: 36,688,262 T87A probably benign Het
Olfr518 G A 7: 108,880,775 T277M probably damaging Het
Pias2 A G 18: 77,097,658 D138G probably damaging Het
Prpf4b T C 13: 34,900,456 probably benign Het
Rapgef3 A G 15: 97,749,516 S788P probably damaging Het
Slc5a6 T C 5: 31,037,477 Y525C probably damaging Het
Snx32 T C 19: 5,496,054 probably benign Het
Tnfaip3 T C 10: 19,004,987 E444G probably benign Het
Ttc27 T C 17: 74,858,033 Y745H probably benign Het
Other mutations in Epas1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5604:Epas1 UTSW 17 86805772 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
Z1176:Epas1 UTSW 17 86827946 missense possibly damaging 0.53
Posted On2016-08-02