Incidental Mutation 'R3056:Epas1'
| ID |
265194 |
| 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 |
040565-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3056 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
86753907-86833410 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86830981 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 835
(F835S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024954]
|
| AlphaFold |
P97481 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024954
AA Change: F835S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: F835S
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
G |
4: 144,674,698 (GRCm38) |
I72T |
probably benign |
Het |
| Abca1 |
A |
T |
4: 53,127,626 (GRCm38) |
M131K |
probably benign |
Het |
| Agbl1 |
C |
T |
7: 76,766,484 (GRCm38) |
T751M |
possibly damaging |
Het |
| Asb14 |
A |
G |
14: 26,914,189 (GRCm38) |
I510V |
possibly damaging |
Het |
| Bard1 |
A |
G |
1: 71,088,231 (GRCm38) |
V73A |
possibly damaging |
Het |
| C6 |
T |
C |
15: 4,739,873 (GRCm38) |
I187T |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,808,896 (GRCm38) |
S376P |
unknown |
Het |
| Ccdc150 |
A |
G |
1: 54,288,842 (GRCm38) |
N361S |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,419,071 (GRCm38) |
L7P |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,251,007 (GRCm38) |
S2805P |
unknown |
Het |
| Cxcr6 |
A |
T |
9: 123,810,464 (GRCm38) |
I177F |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,268,709 (GRCm38) |
D3061G |
possibly damaging |
Het |
| Fat3 |
C |
T |
9: 15,960,496 (GRCm38) |
R3533H |
probably benign |
Het |
| Fxr1 |
A |
G |
3: 34,049,184 (GRCm38) |
E221G |
probably damaging |
Het |
| Gpatch11 |
A |
G |
17: 78,843,843 (GRCm38) |
T228A |
probably damaging |
Het |
| Greb1 |
G |
T |
12: 16,688,591 (GRCm38) |
T1457K |
probably damaging |
Het |
| Ighm |
T |
A |
12: 113,418,976 (GRCm38) |
|
probably benign |
Het |
| Ints12 |
G |
A |
3: 133,109,365 (GRCm38) |
M444I |
possibly damaging |
Het |
| Lmx1b |
G |
A |
2: 33,567,285 (GRCm38) |
Q168* |
probably null |
Het |
| Ltbp3 |
C |
A |
19: 5,751,406 (GRCm38) |
N659K |
probably benign |
Het |
| Micos13 |
A |
G |
17: 56,608,889 (GRCm38) |
F55S |
probably damaging |
Het |
| Mrpl20 |
G |
T |
4: 155,803,872 (GRCm38) |
V43F |
possibly damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,433,696 (GRCm38) |
N825S |
possibly damaging |
Het |
| Or5d36 |
T |
A |
2: 88,071,239 (GRCm38) |
T48S |
probably benign |
Het |
| Or5p67 |
A |
T |
7: 108,323,550 (GRCm38) |
V42E |
possibly damaging |
Het |
| Or8k3b |
C |
A |
2: 86,690,552 (GRCm38) |
C141F |
possibly damaging |
Het |
| Pccb |
C |
T |
9: 101,030,197 (GRCm38) |
R79Q |
probably damaging |
Het |
| Peg10 |
G |
A |
6: 4,755,029 (GRCm38) |
R270H |
possibly damaging |
Het |
| Pttg1ip2 |
A |
T |
5: 5,457,283 (GRCm38) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,147,663 (GRCm38) |
C537R |
probably damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,225,948 (GRCm38) |
V971A |
probably damaging |
Het |
| Timm29 |
T |
C |
9: 21,593,591 (GRCm38) |
M185T |
probably damaging |
Het |
| Tmem92 |
C |
T |
11: 94,779,047 (GRCm38) |
C86Y |
probably benign |
Het |
| Tnfrsf8 |
C |
T |
4: 145,285,325 (GRCm38) |
|
probably null |
Het |
| Tnks1bp1 |
T |
A |
2: 85,070,000 (GRCm38) |
C1433* |
probably null |
Het |
| Utp14b |
T |
A |
1: 78,664,725 (GRCm38) |
D113E |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,583,098 (GRCm38) |
Y405F |
probably damaging |
Het |
| Wiz |
A |
G |
17: 32,357,697 (GRCm38) |
S628P |
probably benign |
Het |
| Xrcc4 |
T |
C |
13: 90,062,077 (GRCm38) |
T83A |
probably benign |
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 |
|
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'- AGCCATCTTTGGATCTCACC -3'
(R):5'- TGAAGCTGGCAGGTCAAGAC -3'
Sequencing Primer
(F):5'- GGATCTCACCACTGCTGTG -3'
(R):5'- CAGGTCAAGACGGCGGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation