Incidental Mutation 'R9204:Epas1'
| ID |
698407 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9204 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
87061292-87140838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 87116873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 181
(R181L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024954]
|
| AlphaFold |
P97481 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024954
AA Change: R181L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: R181L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (52/52) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
C |
8: 60,996,566 (GRCm39) |
V389A |
possibly damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,660,519 (GRCm39) |
F792S |
probably benign |
Het |
| Angptl2 |
A |
T |
2: 33,118,342 (GRCm39) |
I39F |
probably benign |
Het |
| Aprt |
A |
G |
8: 123,303,355 (GRCm39) |
I29T |
probably damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,885,816 (GRCm39) |
S464T |
probably damaging |
Het |
| Atic |
T |
C |
1: 71,603,636 (GRCm39) |
Y151H |
probably damaging |
Het |
| BB014433 |
T |
C |
8: 15,092,623 (GRCm39) |
T77A |
unknown |
Het |
| Boc |
C |
A |
16: 44,308,077 (GRCm39) |
C926F |
|
Het |
| Brd10 |
A |
G |
19: 29,696,938 (GRCm39) |
S852P |
possibly damaging |
Het |
| Cabin1 |
C |
T |
10: 75,530,550 (GRCm39) |
R1544Q |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,938,388 (GRCm39) |
V861A |
probably benign |
Het |
| Ccdc88c |
T |
C |
12: 100,904,322 (GRCm39) |
T230A |
unknown |
Het |
| Cdc42bpa |
T |
A |
1: 179,939,460 (GRCm39) |
|
probably null |
Het |
| Chrnb2 |
T |
C |
3: 89,668,128 (GRCm39) |
M396V |
probably benign |
Het |
| Chst2 |
A |
G |
9: 95,287,155 (GRCm39) |
V397A |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,126,498 (GRCm39) |
N1643K |
probably damaging |
Het |
| Ckb |
T |
A |
12: 111,637,869 (GRCm39) |
D113V |
probably benign |
Het |
| Cyp2c68 |
A |
T |
19: 39,727,571 (GRCm39) |
M136K |
probably damaging |
Het |
| Flnc |
A |
C |
6: 29,452,353 (GRCm39) |
I1726L |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,883,022 (GRCm39) |
R2518H |
probably damaging |
Het |
| Gid4 |
T |
C |
11: 60,308,654 (GRCm39) |
V58A |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,610,262 (GRCm39) |
N1469I |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,278,377 (GRCm39) |
E1693G |
probably damaging |
Het |
| Irx4 |
C |
G |
13: 73,416,649 (GRCm39) |
C348W |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,387,438 (GRCm39) |
S410P |
possibly damaging |
Het |
| Lsm11 |
A |
G |
11: 45,824,789 (GRCm39) |
V246A |
probably benign |
Het |
| Ltbp1 |
G |
T |
17: 75,670,425 (GRCm39) |
V1489F |
probably damaging |
Het |
| Mc2r |
T |
C |
18: 68,540,667 (GRCm39) |
T209A |
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,581,153 (GRCm39) |
L821P |
probably damaging |
Het |
| Mtus2 |
A |
T |
5: 148,238,293 (GRCm39) |
E1206V |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,410,129 (GRCm39) |
H1234Q |
unknown |
Het |
| Naip5 |
A |
T |
13: 100,359,008 (GRCm39) |
F743I |
probably damaging |
Het |
| Nphp3 |
G |
A |
9: 103,919,305 (GRCm39) |
V1318I |
probably benign |
Het |
| Or4c10b |
T |
G |
2: 89,711,482 (GRCm39) |
L104W |
probably damaging |
Het |
| Or52a24 |
A |
G |
7: 103,382,056 (GRCm39) |
K308E |
possibly damaging |
Het |
| Or5p60 |
A |
T |
7: 107,723,935 (GRCm39) |
N178K |
possibly damaging |
Het |
| Or7g26 |
T |
C |
9: 19,229,995 (GRCm39) |
L61P |
probably damaging |
Het |
| Or8b4 |
C |
A |
9: 37,830,670 (GRCm39) |
T239K |
probably damaging |
Het |
| Or9k2b |
G |
C |
10: 130,016,566 (GRCm39) |
P61R |
probably damaging |
Het |
| Paqr5 |
G |
A |
9: 61,868,826 (GRCm39) |
R246C |
probably benign |
Het |
| Pdgfb |
T |
C |
15: 79,885,956 (GRCm39) |
Q128R |
probably damaging |
Het |
| Prr3 |
T |
A |
17: 36,285,619 (GRCm39) |
I88F |
possibly damaging |
Het |
| Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,552,301 (GRCm39) |
D433N |
probably benign |
Het |
| Scnn1b |
A |
T |
7: 121,498,522 (GRCm39) |
T21S |
probably benign |
Het |
| Smcr8 |
A |
G |
11: 60,668,857 (GRCm39) |
I2V |
probably damaging |
Het |
| Stk33 |
T |
C |
7: 108,940,686 (GRCm39) |
D8G |
probably benign |
Het |
| Tbc1d22a |
T |
C |
15: 86,098,803 (GRCm39) |
F10L |
probably benign |
Het |
| Tmem126a |
T |
A |
7: 90,102,026 (GRCm39) |
I58F |
possibly damaging |
Het |
| Ttf2 |
T |
C |
3: 100,869,880 (GRCm39) |
K398E |
probably benign |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Usp53 |
G |
T |
3: 122,741,068 (GRCm39) |
N727K |
probably benign |
Het |
| Vmn2r25 |
T |
G |
6: 123,830,092 (GRCm39) |
I20L |
probably benign |
Het |
| Zfp747l1 |
T |
A |
7: 126,984,332 (GRCm39) |
I257L |
unknown |
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 |
|
R5811:Epas1
|
UTSW |
17 |
87,131,203 (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 |
|
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'- ATTGAGCCAGGACTCAAGGC -3'
(R):5'- TGTAGACTCTCACTTGCCCG -3'
Sequencing Primer
(F):5'- GGGACACCATTAGTATTTAAGCCATG -3'
(R):5'- GGTGCAGTGCAGGACCTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation