Incidental Mutation 'IGL02221:Epas1'
ID285153
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 #IGL02221
Quality Score
Status
Chromosome17
Chromosomal Location86753907-86833410 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 86827847 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 636 (T636M)
Ref Sequence ENSEMBL: ENSMUSP00000024954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024954]
Predicted Effect possibly damaging
Transcript: ENSMUST00000024954
AA Change: T636M

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: T636M

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T C 6: 124,356,948 I24M probably benign Het
Ano5 G A 7: 51,570,323 D390N probably damaging Het
Atp2c2 A G 8: 119,744,334 Y407C probably damaging Het
B430306N03Rik T C 17: 48,324,195 probably benign Het
BC052040 T C 2: 115,639,066 probably null Het
Cd44 A T 2: 102,846,513 M269K probably benign Het
Cpped1 G T 16: 11,828,528 P144Q probably damaging Het
Hsd17b3 G T 13: 64,089,051 H26Q probably benign Het
Ighv8-9 A G 12: 115,468,327 probably benign Het
Itih1 A T 14: 30,929,587 C883S probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Lcn3 A T 2: 25,766,160 M76L probably benign Het
Lin9 A T 1: 180,650,834 M53L probably benign Het
Mast1 A G 8: 84,918,755 V687A possibly damaging Het
Mmd2 C T 5: 142,569,457 probably benign Het
Mroh2b T C 15: 4,923,641 L619S probably damaging Het
Ngef T C 1: 87,540,696 T114A probably benign Het
Nlrp12 T C 7: 3,240,967 D305G possibly damaging Het
Nlrp1a A T 11: 71,123,118 F435L possibly damaging Het
Nup188 A G 2: 30,330,641 I909V possibly damaging Het
Osbpl3 A C 6: 50,327,367 probably benign Het
P2ry2 G T 7: 100,998,114 P328H possibly damaging Het
Prex2 A T 1: 11,061,345 N46I probably benign Het
Prss42 T C 9: 110,803,175 F325L possibly damaging Het
Reep5 A G 18: 34,349,797 F120L probably damaging Het
Scg3 G T 9: 75,683,657 F23L probably damaging Het
Scx A G 15: 76,459,095 D200G probably benign Het
Setd5 C T 6: 113,121,170 probably benign Het
Tcf4 T A 18: 69,347,367 S23R probably damaging Het
Ttc4 A G 4: 106,676,596 probably null Het
Tyro3 T A 2: 119,812,590 C627S probably benign Het
Yipf2 T C 9: 21,591,468 N106S possibly damaging Het
Zfp619 T C 7: 39,536,910 L788P probably benign Het
Zfp831 G A 2: 174,643,726 V65I probably benign Het
Zgpat T C 2: 181,378,858 S275P 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
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
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
Posted On2015-04-16