Incidental Mutation 'R7517:Epas1'
| ID |
582539 |
| 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 |
045590-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7517 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
87061292-87140838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 87138526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 874
(T874N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024954]
|
| AlphaFold |
P97481 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024954
AA Change: T874N
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: T874N
| 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% (46/46) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd28 |
A |
T |
14: 31,437,331 (GRCm39) |
V578E |
possibly damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,296,132 (GRCm39) |
C978S |
probably benign |
Het |
| Asph |
A |
T |
4: 9,517,697 (GRCm39) |
V475E |
probably damaging |
Het |
| Atf7ip2 |
T |
A |
16: 10,059,399 (GRCm39) |
|
probably null |
Het |
| Bace1 |
A |
T |
9: 45,771,559 (GRCm39) |
D491V |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,819,424 (GRCm39) |
I496T |
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,248,882 (GRCm39) |
R448C |
probably benign |
Het |
| Ccdc181 |
T |
C |
1: 164,107,989 (GRCm39) |
F224S |
probably damaging |
Het |
| Cdan1 |
C |
T |
2: 120,558,405 (GRCm39) |
R469Q |
probably damaging |
Het |
| Ddx21 |
G |
A |
10: 62,424,569 (GRCm39) |
P544L |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,627,660 (GRCm39) |
D180E |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,784,794 (GRCm39) |
V285M |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,757,755 (GRCm39) |
L2487V |
probably benign |
Het |
| Gm19410 |
C |
T |
8: 36,240,772 (GRCm39) |
A216V |
possibly damaging |
Het |
| Gm4871 |
G |
T |
5: 144,969,430 (GRCm39) |
R30S |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,391,379 (GRCm39) |
D899G |
probably benign |
Het |
| Hipk3 |
T |
C |
2: 104,265,059 (GRCm39) |
T674A |
probably benign |
Het |
| Hnrnph3 |
A |
G |
10: 62,854,674 (GRCm39) |
L39S |
unknown |
Het |
| Ift122 |
T |
C |
6: 115,867,543 (GRCm39) |
V431A |
probably benign |
Het |
| Il36b |
A |
G |
2: 24,049,890 (GRCm39) |
H167R |
probably benign |
Het |
| Lce3e |
T |
A |
3: 92,875,142 (GRCm39) |
C33S |
unknown |
Het |
| Lrrc26 |
T |
C |
2: 25,180,545 (GRCm39) |
I182T |
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,685,189 (GRCm39) |
R730G |
probably damaging |
Het |
| Meis3 |
G |
T |
7: 15,911,743 (GRCm39) |
V102F |
probably damaging |
Het |
| Mpp7 |
G |
A |
18: 7,440,183 (GRCm39) |
Q263* |
probably null |
Het |
| Myo7b |
A |
T |
18: 32,146,320 (GRCm39) |
I155N |
probably damaging |
Het |
| Nrip1 |
A |
T |
16: 76,088,072 (GRCm39) |
*1162K |
probably null |
Het |
| Or3a1b |
T |
A |
11: 74,012,335 (GRCm39) |
D73E |
probably damaging |
Het |
| Or4k50-ps1 |
T |
C |
2: 111,522,444 (GRCm39) |
F194L |
unknown |
Het |
| Or8i2 |
A |
C |
2: 86,852,486 (GRCm39) |
V134G |
probably benign |
Het |
| Pdik1l |
T |
A |
4: 134,005,736 (GRCm39) |
E326V |
possibly damaging |
Het |
| Phrf1 |
T |
C |
7: 140,836,523 (GRCm39) |
M265T |
unknown |
Het |
| Piezo2 |
A |
T |
18: 63,215,996 (GRCm39) |
N1222K |
possibly damaging |
Het |
| Pkd1 |
G |
A |
17: 24,799,393 (GRCm39) |
V2871M |
probably damaging |
Het |
| Pon2 |
T |
G |
6: 5,268,997 (GRCm39) |
N226H |
possibly damaging |
Het |
| Rftn2 |
G |
T |
1: 55,234,708 (GRCm39) |
D338E |
probably damaging |
Het |
| Rnf123 |
A |
T |
9: 107,947,473 (GRCm39) |
Y171* |
probably null |
Het |
| Ror2 |
A |
T |
13: 53,264,901 (GRCm39) |
N730K |
possibly damaging |
Het |
| Serpinb6c |
T |
A |
13: 34,079,278 (GRCm39) |
N138I |
probably damaging |
Het |
| Smco1 |
A |
T |
16: 32,092,785 (GRCm39) |
H152L |
possibly damaging |
Het |
| Tgm3 |
T |
G |
2: 129,883,684 (GRCm39) |
S447R |
probably benign |
Het |
| Topbp1 |
A |
G |
9: 103,209,932 (GRCm39) |
K860E |
possibly damaging |
Het |
| Uba7 |
C |
A |
9: 107,853,897 (GRCm39) |
|
probably benign |
Het |
| Ucp3 |
A |
G |
7: 100,131,089 (GRCm39) |
N181D |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,215,765 (GRCm39) |
S21R |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,396,968 (GRCm39) |
S2395R |
|
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 |
|
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'- GACACAGTTGTTTGCATGCATG -3'
(R):5'- TCAGATAAAGGCCACTGCTTG -3'
Sequencing Primer
(F):5'- AGGTGTGTGCCAGTCCTCTAAAAC -3'
(R):5'- CTTGGTGACCTGGCCAGTAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation