Incidental Mutation 'IGL02739:Epas1'
ID 305807
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02739
Quality Score
Status
Chromosome 17
Chromosomal Location 86753907-86833410 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86805282 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 103 (T103A)
Ref Sequence ENSEMBL: ENSMUSP00000024954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024954]
AlphaFold P97481
Predicted Effect probably damaging
Transcript: ENSMUST00000024954
AA Change: T103A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: T103A

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 76,878,517 (GRCm38) C887S possibly damaging Het
Adamdec1 C A 14: 68,570,156 (GRCm38) E352* probably null Het
Bglap2 A T 3: 88,378,012 (GRCm38) probably null Het
Bsn A T 9: 108,112,546 (GRCm38) H2002Q probably benign Het
Chtop T A 3: 90,502,250 (GRCm38) Q165L possibly damaging Het
Clcn1 A T 6: 42,286,780 (GRCm38) probably null Het
Ctsr T C 13: 61,161,844 (GRCm38) T184A probably benign Het
Defb36 T C 2: 152,604,519 (GRCm38) L11P unknown Het
Dock8 A G 19: 25,188,488 (GRCm38) E1912G probably damaging Het
Dpp3 A G 19: 4,923,728 (GRCm38) Y106H probably damaging Het
Epcam A T 17: 87,640,494 (GRCm38) T131S probably benign Het
Fam169a A G 13: 97,094,055 (GRCm38) probably benign Het
Gh T A 11: 106,301,733 (GRCm38) probably benign Het
Kif20a A T 18: 34,628,943 (GRCm38) K399* probably null Het
Lrp1b A G 2: 41,498,215 (GRCm38) I466T probably damaging Het
Nlk A G 11: 78,574,851 (GRCm38) V409A probably benign Het
Nomo1 A G 7: 46,044,307 (GRCm38) probably null Het
Nr2c1 T A 10: 94,156,972 (GRCm38) M16K probably damaging Het
Nxph2 A T 2: 23,399,900 (GRCm38) Q88L probably benign Het
Olfr33 A G 7: 102,714,314 (GRCm38) I33T possibly damaging Het
Pkdrej T A 15: 85,819,694 (GRCm38) R680S probably benign Het
Pkhd1l1 A T 15: 44,540,950 (GRCm38) N2325I probably benign Het
Pnliprp2 T C 19: 58,760,509 (GRCm38) probably null Het
Ppp1r42 T A 1: 9,968,853 (GRCm38) K347N probably benign Het
Prtg T C 9: 72,851,585 (GRCm38) V407A possibly damaging Het
Psmb8 C A 17: 34,200,754 (GRCm38) S194* probably null Het
Rnf214 T C 9: 45,869,474 (GRCm38) I406V probably benign Het
Rreb1 C T 13: 37,893,821 (GRCm38) S3L probably damaging Het
Sdad1 C T 5: 92,290,072 (GRCm38) A539T probably benign Het
Sema3a A G 5: 13,451,161 (GRCm38) Y57C probably damaging Het
Susd5 A G 9: 114,096,033 (GRCm38) E328G possibly damaging Het
Syngr3 T C 17: 24,686,398 (GRCm38) T175A probably damaging Het
Tcf20 T A 15: 82,856,080 (GRCm38) Q390L probably damaging Het
Tex15 A G 8: 33,581,693 (GRCm38) T2423A possibly damaging Het
Tlr1 T C 5: 64,927,126 (GRCm38) N36S probably benign Het
Uchl4 C T 9: 64,235,537 (GRCm38) T100M probably damaging Het
Uhrf1 A G 17: 56,305,129 (GRCm38) K11R probably benign Het
Vps13b T A 15: 35,879,900 (GRCm38) D3040E probably damaging Het
Wdr62 A T 7: 30,242,460 (GRCm38) Y640* probably null Het
Zkscan17 T G 11: 59,503,526 (GRCm38) E83A probably damaging Het
Other mutations in Epas1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01934:Epas1 APN 17 86,823,729 (GRCm38) missense probably damaging 1.00
IGL02150:Epas1 APN 17 86,805,289 (GRCm38) missense probably damaging 1.00
IGL02221:Epas1 APN 17 86,827,847 (GRCm38) missense possibly damaging 0.50
IGL02555:Epas1 APN 17 86,829,064 (GRCm38) missense probably benign
IGL03389:Epas1 APN 17 86,823,703 (GRCm38) missense probably benign 0.10
R0043:Epas1 UTSW 17 86,823,812 (GRCm38) missense probably damaging 0.99
R0363:Epas1 UTSW 17 86,805,848 (GRCm38) splice site probably benign
R0399:Epas1 UTSW 17 86,805,193 (GRCm38) missense probably benign 0.01
R0737:Epas1 UTSW 17 86,829,456 (GRCm38) missense possibly damaging 0.45
R1542:Epas1 UTSW 17 86,824,490 (GRCm38) missense possibly damaging 0.67
R1662:Epas1 UTSW 17 86,829,027 (GRCm38) missense probably damaging 0.99
R1885:Epas1 UTSW 17 86,805,295 (GRCm38) missense probably damaging 1.00
R2197:Epas1 UTSW 17 86,829,043 (GRCm38) missense probably benign 0.01
R3056:Epas1 UTSW 17 86,830,981 (GRCm38) missense probably damaging 0.99
R4342:Epas1 UTSW 17 86,823,800 (GRCm38) missense probably damaging 1.00
R4391:Epas1 UTSW 17 86,809,663 (GRCm38) missense probably benign 0.00
R4774:Epas1 UTSW 17 86,805,758 (GRCm38) missense probably damaging 1.00
R4798:Epas1 UTSW 17 86,805,839 (GRCm38) missense probably benign
R4989:Epas1 UTSW 17 86,809,454 (GRCm38) missense probably damaging 1.00
R5133:Epas1 UTSW 17 86,809,454 (GRCm38) missense probably damaging 1.00
R5604:Epas1 UTSW 17 86,805,772 (GRCm38) missense probably damaging 1.00
R5811:Epas1 UTSW 17 86,823,775 (GRCm38) missense probably damaging 1.00
R5838:Epas1 UTSW 17 86,823,686 (GRCm38) missense possibly damaging 0.94
R5885:Epas1 UTSW 17 86,827,544 (GRCm38) missense probably damaging 1.00
R5932:Epas1 UTSW 17 86,827,646 (GRCm38) missense possibly damaging 0.66
R6045:Epas1 UTSW 17 86,809,399 (GRCm38) missense probably damaging 0.99
R6145:Epas1 UTSW 17 86,829,429 (GRCm38) missense probably benign 0.01
R7517:Epas1 UTSW 17 86,831,098 (GRCm38) missense possibly damaging 0.92
R7552:Epas1 UTSW 17 86,829,043 (GRCm38) missense probably benign 0.01
R7828:Epas1 UTSW 17 86,827,699 (GRCm38) missense probably benign 0.04
R8081:Epas1 UTSW 17 86,829,369 (GRCm38) missense probably benign
R8111:Epas1 UTSW 17 86,818,432 (GRCm38) nonsense probably null
R8558:Epas1 UTSW 17 86,809,468 (GRCm38) missense possibly damaging 0.89
R8948:Epas1 UTSW 17 86,827,492 (GRCm38) missense probably benign 0.01
R9074:Epas1 UTSW 17 86,827,839 (GRCm38) missense probably benign 0.41
R9204:Epas1 UTSW 17 86,809,445 (GRCm38) missense probably damaging 1.00
R9228:Epas1 UTSW 17 86,826,562 (GRCm38) missense possibly damaging 0.71
R9319:Epas1 UTSW 17 86,797,117 (GRCm38) missense possibly damaging 0.88
R9562:Epas1 UTSW 17 86,805,239 (GRCm38) missense probably damaging 1.00
R9565:Epas1 UTSW 17 86,805,239 (GRCm38) missense probably damaging 1.00
R9607:Epas1 UTSW 17 86,826,610 (GRCm38) missense probably benign 0.04
Z1176:Epas1 UTSW 17 86,827,946 (GRCm38) missense possibly damaging 0.53
Posted On 2015-04-16