Incidental Mutation 'R5885:Epas1'
| ID |
456066 |
| 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 |
043237-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5885 (G1)
|
| Quality Score |
205 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
86753907-86833410 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86827544 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 535
(D535G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024954]
|
| AlphaFold |
P97481 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024954
AA Change: D535G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: D535G
| 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: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.8%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530099J19Rik |
A |
T |
13: 19,729,349 (GRCm38) |
|
noncoding transcript |
Het |
| Acot10 |
T |
A |
15: 20,666,104 (GRCm38) |
M184L |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,424,271 (GRCm38) |
S4924T |
probably benign |
Het |
| Atp10a |
T |
A |
7: 58,813,800 (GRCm38) |
M1027K |
possibly damaging |
Het |
| Axl |
T |
A |
7: 25,766,852 (GRCm38) |
K510I |
probably damaging |
Het |
| Azi2 |
T |
A |
9: 118,047,560 (GRCm38) |
I48N |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,029,491 (GRCm38) |
K260E |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 120,069,704 (GRCm38) |
I720V |
probably benign |
Het |
| Dnah8 |
C |
T |
17: 30,794,717 (GRCm38) |
P3811S |
probably damaging |
Het |
| Fam47e |
A |
G |
5: 92,565,968 (GRCm38) |
K152R |
probably damaging |
Het |
| Fbxl3 |
A |
T |
14: 103,083,231 (GRCm38) |
I260K |
probably benign |
Het |
| Fcgr3 |
A |
G |
1: 171,057,711 (GRCm38) |
V115A |
probably damaging |
Het |
| Fgf12 |
G |
T |
16: 28,398,294 (GRCm38) |
D98E |
possibly damaging |
Het |
| Flt3 |
T |
C |
5: 147,349,629 (GRCm38) |
T716A |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,445,147 (GRCm38) |
|
noncoding transcript |
Het |
| Grin2a |
A |
G |
16: 9,761,905 (GRCm38) |
Y165H |
possibly damaging |
Het |
| Ifna4 |
T |
A |
4: 88,842,362 (GRCm38) |
W168R |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,762,850 (GRCm38) |
Y752C |
probably damaging |
Het |
| Khdrbs3 |
A |
G |
15: 69,024,698 (GRCm38) |
|
probably null |
Het |
| Kif24 |
A |
T |
4: 41,423,463 (GRCm38) |
Y263N |
probably damaging |
Het |
| Lama5 |
G |
T |
2: 180,201,831 (GRCm38) |
T441K |
probably damaging |
Het |
| Lrrc47 |
T |
A |
4: 154,015,972 (GRCm38) |
V335D |
possibly damaging |
Het |
| Map1b |
A |
T |
13: 99,430,081 (GRCm38) |
I2044N |
unknown |
Het |
| Mast2 |
C |
T |
4: 116,314,838 (GRCm38) |
G638S |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,871,220 (GRCm38) |
S1420P |
probably benign |
Het |
| Neurl2 |
T |
C |
2: 164,832,891 (GRCm38) |
T184A |
probably damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,096,312 (GRCm38) |
I577V |
probably benign |
Het |
| Nipal3 |
A |
T |
4: 135,471,977 (GRCm38) |
V186E |
probably damaging |
Het |
| Pgbd5 |
G |
A |
8: 124,384,466 (GRCm38) |
T162M |
probably damaging |
Het |
| Plod2 |
T |
A |
9: 92,606,656 (GRCm38) |
|
probably null |
Het |
| Psg22 |
T |
A |
7: 18,718,332 (GRCm38) |
L19Q |
probably damaging |
Het |
| Psg27 |
T |
A |
7: 18,561,786 (GRCm38) |
N245Y |
probably damaging |
Het |
| Ptprc |
T |
A |
1: 138,088,508 (GRCm38) |
I539F |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,488,057 (GRCm38) |
L59P |
probably damaging |
Het |
| Slc2a9 |
G |
A |
5: 38,440,674 (GRCm38) |
R137W |
probably damaging |
Het |
| Spats2l |
C |
T |
1: 57,946,162 (GRCm38) |
A458V |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 120,076,663 (GRCm38) |
|
probably benign |
Het |
| Stox1 |
C |
A |
10: 62,664,848 (GRCm38) |
L644F |
probably damaging |
Het |
| Sv2b |
C |
T |
7: 75,156,753 (GRCm38) |
G213E |
probably damaging |
Het |
| Tas2r121 |
T |
G |
6: 132,700,291 (GRCm38) |
L239F |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,794,793 (GRCm38) |
V854E |
probably damaging |
Het |
| Vmn2r97 |
A |
G |
17: 18,947,773 (GRCm38) |
Y763C |
possibly damaging |
Het |
| Xkr6 |
T |
A |
14: 63,606,911 (GRCm38) |
W128R |
probably damaging |
Het |
|
| Other mutations in Epas1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- GCAAATCTGAGCAGTTCCAG -3'
(R):5'- GCTCCCAGCATCAAAGAAGATG -3'
Sequencing Primer
(F):5'- TCTGAGCAGTTCCAGCAGAG -3'
(R):5'- AAGACATGGGCCAGTGCTC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation