Incidental Mutation 'R1662:Epas1'
ID 186887
Institutional Source Beutler Lab
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
MMRRC Submission 039698-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1662 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 86753907-86833410 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86829027 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 742 (K742N)
Ref Sequence ENSEMBL: ENSMUSP00000024954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024954]
AlphaFold P97481
Predicted Effect probably damaging
Transcript: ENSMUST00000024954
AA Change: K742N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: K742N

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.3%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik T A 4: 126,611,682 (GRCm38) M1K probably null Het
5730507C01Rik A C 12: 18,531,966 (GRCm38) R119S possibly damaging Het
Abca1 T A 4: 53,090,251 (GRCm38) probably null Het
Aff1 G A 5: 103,841,057 (GRCm38) G830D probably damaging Het
AI987944 T C 7: 41,374,449 (GRCm38) T369A possibly damaging Het
Aoah A G 13: 21,000,113 (GRCm38) probably null Het
Arhgap40 C G 2: 158,539,270 (GRCm38) C349W probably damaging Het
Atic T A 1: 71,576,127 (GRCm38) D438E probably benign Het
Barhl2 A T 5: 106,453,499 (GRCm38) M338K probably benign Het
Btd T C 14: 31,666,790 (GRCm38) V156A probably damaging Het
Ccdc82 T C 9: 13,262,772 (GRCm38) V319A probably damaging Het
Celsr1 G T 15: 86,031,062 (GRCm38) N903K probably damaging Het
Cenpf T A 1: 189,657,771 (GRCm38) N1288I probably damaging Het
Ciao1 G A 2: 127,244,937 (GRCm38) T252I probably benign Het
Cma2 T C 14: 55,973,116 (GRCm38) C87R probably damaging Het
Cops7a T A 6: 124,962,438 (GRCm38) R83W probably damaging Het
Cxcr6 A T 9: 123,810,548 (GRCm38) M205L possibly damaging Het
Dcc A G 18: 71,420,338 (GRCm38) L749P probably benign Het
Dync1i2 C T 2: 71,250,979 (GRCm38) T484I possibly damaging Het
Evc2 A G 5: 37,348,750 (GRCm38) T138A probably benign Het
F5 T C 1: 164,207,888 (GRCm38) I1877T probably damaging Het
Fat1 T G 8: 44,953,164 (GRCm38) V984G probably benign Het
Fat4 T A 3: 38,980,779 (GRCm38) V2860D probably damaging Het
Foxn4 C T 5: 114,256,894 (GRCm38) R324Q probably benign Het
Gapdhs C T 7: 30,737,002 (GRCm38) R120H probably damaging Het
Gcnt3 T C 9: 70,034,377 (GRCm38) D303G probably benign Het
Gm16432 A G 1: 178,046,986 (GRCm38) K140E unknown Het
Gng11 A T 6: 4,008,066 (GRCm38) Y43F probably benign Het
Hectd4 A C 5: 121,317,245 (GRCm38) M651L probably benign Het
Ifngr2 T A 16: 91,560,596 (GRCm38) Y200N probably benign Het
Iqgap3 T C 3: 88,098,401 (GRCm38) V512A probably benign Het
Kdm2a A C 19: 4,328,212 (GRCm38) D187E probably damaging Het
Klhl8 A G 5: 103,872,045 (GRCm38) V370A probably damaging Het
Kmt2a G A 9: 44,836,670 (GRCm38) probably benign Het
Krt12 C A 11: 99,420,824 (GRCm38) V184F probably benign Het
Lrrc8c A T 5: 105,606,757 (GRCm38) I133F probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,185,261 (GRCm38) probably null Het
Map1a C G 2: 121,306,408 (GRCm38) S2568R possibly damaging Het
Mbnl1 C A 3: 60,625,172 (GRCm38) Q301K probably damaging Het
Med12l A T 3: 59,093,617 (GRCm38) K724N probably damaging Het
Mroh2a A C 1: 88,241,618 (GRCm38) I672L probably benign Het
Mybph C T 1: 134,193,636 (GRCm38) P45S probably benign Het
Myo15a T A 11: 60,501,701 (GRCm38) S2157T probably damaging Het
Olfr721-ps1 T A 14: 14,407,880 (GRCm38) Y217* probably null Het
Or14j2 G T 17: 37,575,273 (GRCm38) T50K probably damaging Het
Or1ab2 T C 8: 72,109,779 (GRCm38) V71A probably benign Het
Or5h25 T C 16: 59,110,604 (GRCm38) E2G probably benign Het
Otogl A G 10: 107,798,357 (GRCm38) I1419T possibly damaging Het
Ovol1 A T 19: 5,551,639 (GRCm38) F118L probably damaging Het
Pak5 T C 2: 136,116,760 (GRCm38) D136G probably damaging Het
Pik3r2 T C 8: 70,770,606 (GRCm38) Y417C probably damaging Het
Ppp2r2a T C 14: 67,016,603 (GRCm38) N372S probably benign Het
Prss30 G T 17: 23,972,832 (GRCm38) N238K possibly damaging Het
Prss33 C A 17: 23,834,811 (GRCm38) probably null Het
Ptpn4 T C 1: 119,765,058 (GRCm38) E187G probably damaging Het
Ptprg A T 14: 12,207,357 (GRCm38) N100I probably damaging Het
Rbpms2 T C 9: 65,651,042 (GRCm38) V130A probably benign Het
Rdh7 A T 10: 127,888,612 (GRCm38) M1K probably null Het
Rtp3 A C 9: 110,986,683 (GRCm38) S205A probably benign Het
Ryr3 G T 2: 112,709,273 (GRCm38) D3207E probably damaging Het
Scn9a T A 2: 66,483,459 (GRCm38) T1972S probably benign Het
Scnn1b T C 7: 121,902,328 (GRCm38) V122A probably benign Het
Slc15a4 A G 5: 127,608,979 (GRCm38) L213S probably damaging Het
Slc27a5 T A 7: 12,991,246 (GRCm38) I425F probably damaging Het
Spata31d1b A G 13: 59,716,628 (GRCm38) D530G probably benign Het
Tcf25 T A 8: 123,381,550 (GRCm38) S115T probably benign Het
Tet2 A G 3: 133,466,852 (GRCm38) L1883P possibly damaging Het
Trim21 T A 7: 102,561,898 (GRCm38) R205* probably null Het
Ttc23 G T 7: 67,725,321 (GRCm38) probably null Het
Tut7 T C 13: 59,799,903 (GRCm38) E466G possibly damaging Het
Unc13d T C 11: 116,068,673 (GRCm38) K658R probably null Het
Vmn1r43 A G 6: 89,869,590 (GRCm38) F305L possibly damaging Het
Vmn2r2 A T 3: 64,117,130 (GRCm38) C677S probably benign Het
Wnt5a T C 14: 28,518,343 (GRCm38) M150T probably benign Het
Ythdc1 G A 5: 86,828,122 (GRCm38) probably null Het
Zdbf2 A T 1: 63,304,249 (GRCm38) R596* probably null 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
IGL02739:Epas1 APN 17 86,805,282 (GRCm38) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- TGAGGAGCAAGCCTTCCAAGACAC -3'
(R):5'- CCTGCTCATGGCATGGATATAACCC -3'

Sequencing Primer
(F):5'- TGTCTGTGAACGAACAGCC -3'
(R):5'- CCATTCTAACAAGGCTCAGGG -3'
Posted On 2014-05-09