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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |