Incidental Mutation 'R9319:Epas1'
| ID |
706056 |
| 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 # |
R9319 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
87061292-87140838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87104545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 10
(S10G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024954]
|
| AlphaFold |
P97481 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024954
AA Change: S10G
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: S10G
| 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: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (48/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,922,446 (GRCm39) |
D811G |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,258,836 (GRCm39) |
T487A |
probably benign |
Het |
| Ankrd6 |
C |
T |
4: 32,806,324 (GRCm39) |
S643N |
probably benign |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Camk2b |
G |
T |
11: 5,927,814 (GRCm39) |
P489Q |
probably benign |
Het |
| Cd22 |
T |
A |
7: 30,569,329 (GRCm39) |
N596Y |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cobl |
A |
T |
11: 12,203,648 (GRCm39) |
V1018E |
probably benign |
Het |
| Cttn |
T |
C |
7: 144,017,100 (GRCm39) |
E34G |
probably damaging |
Het |
| Dhx15 |
G |
A |
5: 52,342,193 (GRCm39) |
R42* |
probably null |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Dlst |
G |
T |
12: 85,170,585 (GRCm39) |
R238L |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,521,168 (GRCm39) |
E232G |
possibly damaging |
Het |
| Dsg1b |
C |
T |
18: 20,531,004 (GRCm39) |
Q452* |
probably null |
Het |
| Elovl3 |
A |
G |
19: 46,122,507 (GRCm39) |
T102A |
possibly damaging |
Het |
| Fads2b |
G |
A |
2: 85,320,757 (GRCm39) |
R349C |
probably damaging |
Het |
| Fanca |
T |
C |
8: 124,018,190 (GRCm39) |
I613V |
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,406,060 (GRCm39) |
V937D |
probably damaging |
Het |
| Glipr1l1 |
G |
T |
10: 111,898,122 (GRCm39) |
A76S |
probably damaging |
Het |
| Ino80 |
T |
C |
2: 119,205,005 (GRCm39) |
D1507G |
probably benign |
Het |
| Ipo13 |
T |
C |
4: 117,769,585 (GRCm39) |
D69G |
probably benign |
Het |
| Kif2c |
T |
C |
4: 117,035,445 (GRCm39) |
|
probably null |
Het |
| Lrrc61 |
C |
A |
6: 48,545,228 (GRCm39) |
T17K |
probably damaging |
Het |
| Ltk |
C |
A |
2: 119,590,096 (GRCm39) |
E43D |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,318,638 (GRCm39) |
T720A |
probably damaging |
Het |
| Mcoln2 |
T |
A |
3: 145,875,691 (GRCm39) |
V81D |
probably damaging |
Het |
| Mturn |
T |
A |
6: 54,658,780 (GRCm39) |
V9D |
probably benign |
Het |
| Nrg1 |
T |
C |
8: 32,323,204 (GRCm39) |
D249G |
probably benign |
Het |
| Ntng2 |
T |
C |
2: 29,091,121 (GRCm39) |
|
probably benign |
Het |
| Odad3 |
T |
C |
9: 21,906,203 (GRCm39) |
D245G |
probably damaging |
Het |
| Pax3 |
T |
A |
1: 78,080,079 (GRCm39) |
M436L |
probably benign |
Het |
| Pias4 |
G |
A |
10: 80,991,750 (GRCm39) |
P53S |
unknown |
Het |
| Pkhd1l1 |
C |
T |
15: 44,392,974 (GRCm39) |
R1770C |
possibly damaging |
Het |
| Plk1 |
C |
A |
7: 121,768,122 (GRCm39) |
D447E |
probably damaging |
Het |
| Rsph10b |
A |
C |
5: 143,903,337 (GRCm39) |
M611L |
probably benign |
Het |
| Scart1 |
C |
T |
7: 139,807,940 (GRCm39) |
P704S |
possibly damaging |
Het |
| Snrnp40 |
T |
C |
4: 130,256,545 (GRCm39) |
L90P |
possibly damaging |
Het |
| Snu13 |
T |
C |
15: 81,928,218 (GRCm39) |
T2A |
probably benign |
Het |
| Sptlc3 |
C |
T |
2: 139,478,730 (GRCm39) |
A563V |
possibly damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Tmx3 |
A |
G |
18: 90,558,068 (GRCm39) |
I373M |
probably benign |
Het |
| Tpbg |
C |
T |
9: 85,725,991 (GRCm39) |
|
probably benign |
Het |
| Troap |
T |
C |
15: 98,975,444 (GRCm39) |
I176T |
probably benign |
Het |
| Trpm2 |
G |
A |
10: 77,778,776 (GRCm39) |
Q397* |
probably null |
Het |
| Trpm2 |
A |
T |
10: 77,785,032 (GRCm39) |
V196E |
probably damaging |
Het |
| Vac14 |
T |
A |
8: 111,361,018 (GRCm39) |
I196N |
probably damaging |
Het |
| Vmn2r71 |
C |
T |
7: 85,273,694 (GRCm39) |
P836L |
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 |
|
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 |
|
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 |
|
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'- AATTTGAGAAGACACCAATGCGC -3'
(R):5'- CAGGACCTGTCAAGCCTTAC -3'
Sequencing Primer
(F):5'- TGCGCAAAAGCAGAGTCAATAC -3'
(R):5'- TGTCAAGCCTTACCTGAGGACAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation