Incidental Mutation 'R5811:Epas1'
ID 447535
Institutional Source Beutler Lab
Gene Symbol Epas1
Ensembl Gene ENSMUSG00000024140
Gene Name endothelial PAS domain protein 1
Synonyms hypoxia inducible transcription factor 2alpha, MOP2, Hif like protein, HIF2A, HLF, HIF-2alpha, bHLHe73, HRF
MMRRC Submission 043213-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5811 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 87061292-87140838 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87131203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 328 (N328D)
Ref Sequence ENSEMBL: ENSMUSP00000024954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024954]
AlphaFold P97481
Predicted Effect probably damaging
Transcript: ENSMUST00000024954
AA Change: N328D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: N328D

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btnl1 A T 17: 34,604,503 (GRCm39) K428M probably damaging Het
Chid1 G A 7: 141,110,166 (GRCm39) T53M probably damaging Het
Clnk A G 5: 38,870,490 (GRCm39) V356A probably damaging Het
Cryba4 C T 5: 112,398,937 (GRCm39) V36I probably benign Het
Dct A G 14: 118,250,600 (GRCm39) V466A probably benign Het
Dnmt3l A G 10: 77,887,929 (GRCm39) D146G possibly damaging Het
Fat4 C T 3: 38,945,936 (GRCm39) R1610W probably damaging Het
Filip1l T C 16: 57,390,657 (GRCm39) V415A probably damaging Het
Garnl3 A G 2: 32,896,911 (GRCm39) L576P probably damaging Het
Gjd3 A T 11: 98,873,226 (GRCm39) V206E possibly damaging Het
Gpr135 A T 12: 72,116,641 (GRCm39) D375E possibly damaging Het
Gsdme T A 6: 50,222,925 (GRCm39) Q130L probably benign Het
Hcls1 A G 16: 36,777,702 (GRCm39) M274V probably null Het
Kcnn4 T C 7: 24,077,030 (GRCm39) V193A probably damaging Het
Kctd16 T C 18: 40,391,505 (GRCm39) V31A probably damaging Het
Lamc2 C T 1: 153,041,999 (GRCm39) R45Q possibly damaging Het
Lrrc66 T A 5: 73,772,860 (GRCm39) I203F possibly damaging Het
Mark4 T C 7: 19,182,564 (GRCm39) D91G probably damaging Het
Mcm6 A T 1: 128,263,465 (GRCm39) probably benign Het
Mecom C T 3: 30,015,149 (GRCm39) S602N probably benign Het
Muc5ac T C 7: 141,352,721 (GRCm39) V736A possibly damaging Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Or2h2c C A 17: 37,422,649 (GRCm39) C75F probably benign Het
Pdia5 A T 16: 35,269,790 (GRCm39) M173K possibly damaging Het
Pih1d2 T C 9: 50,532,374 (GRCm39) L144P probably damaging Het
Plch2 C T 4: 155,077,024 (GRCm39) E577K possibly damaging Het
Samd4b T C 7: 28,107,445 (GRCm39) S275G probably damaging Het
Sap130 T C 18: 31,822,495 (GRCm39) V668A probably benign Het
Sema3c T A 5: 17,880,188 (GRCm39) probably null Het
Slc9a8 C T 2: 167,313,307 (GRCm39) R390* probably null Het
Vmn2r89 A T 14: 51,693,565 (GRCm39) N305I probably benign Het
Wdr33 T C 18: 32,035,673 (GRCm39) F1164L unknown Het
Zfp873 T A 10: 81,896,567 (GRCm39) C470S probably damaging Het
Other mutations in Epas1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01934:Epas1 APN 17 87,131,157 (GRCm39) missense probably damaging 1.00
IGL02150:Epas1 APN 17 87,112,717 (GRCm39) missense probably damaging 1.00
IGL02221:Epas1 APN 17 87,135,275 (GRCm39) missense possibly damaging 0.50
IGL02555:Epas1 APN 17 87,136,492 (GRCm39) missense probably benign
IGL02739:Epas1 APN 17 87,112,710 (GRCm39) missense probably damaging 0.98
IGL03389:Epas1 APN 17 87,131,131 (GRCm39) missense probably benign 0.10
R0043:Epas1 UTSW 17 87,131,240 (GRCm39) missense probably damaging 0.99
R0363:Epas1 UTSW 17 87,113,276 (GRCm39) splice site probably benign
R0399:Epas1 UTSW 17 87,112,621 (GRCm39) missense probably benign 0.01
R0737:Epas1 UTSW 17 87,136,884 (GRCm39) missense possibly damaging 0.45
R1542:Epas1 UTSW 17 87,131,918 (GRCm39) missense possibly damaging 0.67
R1662:Epas1 UTSW 17 87,136,455 (GRCm39) missense probably damaging 0.99
R1885:Epas1 UTSW 17 87,112,723 (GRCm39) missense probably damaging 1.00
R2197:Epas1 UTSW 17 87,136,471 (GRCm39) missense probably benign 0.01
R3056:Epas1 UTSW 17 87,138,409 (GRCm39) missense probably damaging 0.99
R4342:Epas1 UTSW 17 87,131,228 (GRCm39) missense probably damaging 1.00
R4391:Epas1 UTSW 17 87,117,091 (GRCm39) missense probably benign 0.00
R4774:Epas1 UTSW 17 87,113,186 (GRCm39) missense probably damaging 1.00
R4798:Epas1 UTSW 17 87,113,267 (GRCm39) missense probably benign
R4989:Epas1 UTSW 17 87,116,882 (GRCm39) missense probably damaging 1.00
R5133:Epas1 UTSW 17 87,116,882 (GRCm39) missense probably damaging 1.00
R5604:Epas1 UTSW 17 87,113,200 (GRCm39) missense probably damaging 1.00
R5838:Epas1 UTSW 17 87,131,114 (GRCm39) missense possibly damaging 0.94
R5885:Epas1 UTSW 17 87,134,972 (GRCm39) missense probably damaging 1.00
R5932:Epas1 UTSW 17 87,135,074 (GRCm39) missense possibly damaging 0.66
R6045:Epas1 UTSW 17 87,116,827 (GRCm39) missense probably damaging 0.99
R6145:Epas1 UTSW 17 87,136,857 (GRCm39) missense probably benign 0.01
R7517:Epas1 UTSW 17 87,138,526 (GRCm39) missense possibly damaging 0.92
R7552:Epas1 UTSW 17 87,136,471 (GRCm39) missense probably benign 0.01
R7828:Epas1 UTSW 17 87,135,127 (GRCm39) missense probably benign 0.04
R8081:Epas1 UTSW 17 87,136,797 (GRCm39) missense probably benign
R8111:Epas1 UTSW 17 87,125,860 (GRCm39) nonsense probably null
R8558:Epas1 UTSW 17 87,116,896 (GRCm39) missense possibly damaging 0.89
R8948:Epas1 UTSW 17 87,134,920 (GRCm39) missense probably benign 0.01
R9074:Epas1 UTSW 17 87,135,267 (GRCm39) missense probably benign 0.41
R9204:Epas1 UTSW 17 87,116,873 (GRCm39) missense probably damaging 1.00
R9228:Epas1 UTSW 17 87,133,990 (GRCm39) missense possibly damaging 0.71
R9319:Epas1 UTSW 17 87,104,545 (GRCm39) missense possibly damaging 0.88
R9562:Epas1 UTSW 17 87,112,667 (GRCm39) missense probably damaging 1.00
R9565:Epas1 UTSW 17 87,112,667 (GRCm39) missense probably damaging 1.00
R9607:Epas1 UTSW 17 87,134,038 (GRCm39) missense probably benign 0.04
Z1176:Epas1 UTSW 17 87,135,374 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- ATCTGGCAGCTCTGTCCATC -3'
(R):5'- AGAGACATGATACCATAGCTGAC -3'

Sequencing Primer
(F):5'- GGGCAGGTGACACTTCCTG -3'
(R):5'- GAAACACGCTAGAGCTCTGTTC -3'
Posted On 2016-12-15