Incidental Mutation 'R7828:Epas1'
| ID |
602467 |
| 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 |
045882-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7828 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
87061292-87140838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87135127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 587
(Y587H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024954]
|
| AlphaFold |
P97481 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024954
AA Change: Y587H
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: Y587H
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (64/64) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,254,904 (GRCm39) |
T869A |
probably benign |
Het |
| Aqr |
T |
A |
2: 113,979,497 (GRCm39) |
I313F |
probably damaging |
Het |
| Arid1b |
C |
A |
17: 5,147,943 (GRCm39) |
P615Q |
probably damaging |
Het |
| Asb16 |
C |
A |
11: 102,168,753 (GRCm39) |
Q410K |
probably benign |
Het |
| Ash2l |
T |
C |
8: 26,313,214 (GRCm39) |
E335G |
possibly damaging |
Het |
| AU041133 |
C |
T |
10: 81,987,054 (GRCm39) |
H236Y |
probably damaging |
Het |
| Bhmt |
T |
A |
13: 93,754,156 (GRCm39) |
Y351F |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 74,886,501 (GRCm39) |
S610P |
probably damaging |
Het |
| Cab39l |
T |
C |
14: 59,737,159 (GRCm39) |
|
probably null |
Het |
| Cdc7 |
A |
T |
5: 107,120,816 (GRCm39) |
Q146L |
possibly damaging |
Het |
| Cdk18 |
T |
C |
1: 132,044,642 (GRCm39) |
H328R |
possibly damaging |
Het |
| Cdsn |
T |
C |
17: 35,865,878 (GRCm39) |
S136P |
unknown |
Het |
| Ces3b |
T |
A |
8: 105,813,228 (GRCm39) |
L203Q |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,676,489 (GRCm39) |
V840A |
probably damaging |
Het |
| Ctse |
T |
C |
1: 131,590,491 (GRCm39) |
L71P |
probably damaging |
Het |
| Ears2 |
G |
T |
7: 121,647,563 (GRCm39) |
S240R |
probably benign |
Het |
| Edem3 |
A |
G |
1: 151,687,386 (GRCm39) |
I756V |
possibly damaging |
Het |
| Fcamr |
G |
T |
1: 130,739,443 (GRCm39) |
A248S |
probably damaging |
Het |
| Gm14496 |
G |
A |
2: 181,633,171 (GRCm39) |
W51* |
probably null |
Het |
| Hfm1 |
A |
T |
5: 107,029,657 (GRCm39) |
|
probably null |
Het |
| Hhip |
T |
C |
8: 80,724,837 (GRCm39) |
I312V |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,295,887 (GRCm39) |
N2658K |
possibly damaging |
Het |
| Iars1 |
T |
A |
13: 49,878,748 (GRCm39) |
M948K |
probably benign |
Het |
| Il27ra |
A |
G |
8: 84,758,187 (GRCm39) |
L521S |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,459,892 (GRCm39) |
D2062G |
probably damaging |
Het |
| Jag2 |
G |
T |
12: 112,876,800 (GRCm39) |
R784S |
probably benign |
Het |
| Maea |
T |
A |
5: 33,517,722 (GRCm39) |
D87E |
probably benign |
Het |
| Man2a2 |
A |
G |
7: 80,016,674 (GRCm39) |
I380T |
probably damaging |
Het |
| Mprip |
G |
T |
11: 59,627,915 (GRCm39) |
G253W |
probably damaging |
Het |
| Naglu |
G |
A |
11: 100,967,436 (GRCm39) |
R462H |
probably damaging |
Het |
| Nrxn1 |
T |
A |
17: 90,366,979 (GRCm39) |
I342F |
probably damaging |
Het |
| Oosp1 |
C |
A |
19: 11,668,369 (GRCm39) |
V5L |
probably benign |
Het |
| Or10q3 |
A |
T |
19: 11,848,169 (GRCm39) |
M137K |
probably damaging |
Het |
| Or5b113 |
G |
A |
19: 13,342,510 (GRCm39) |
V173I |
probably benign |
Het |
| Or6c74 |
A |
G |
10: 129,869,756 (GRCm39) |
D87G |
probably damaging |
Het |
| Or7g12 |
T |
C |
9: 18,900,216 (GRCm39) |
S311P |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,752,848 (GRCm39) |
M95T |
probably damaging |
Het |
| Pcdh17 |
C |
G |
14: 84,770,425 (GRCm39) |
R968G |
probably damaging |
Het |
| Pcdhb7 |
T |
G |
18: 37,476,915 (GRCm39) |
S684A |
probably damaging |
Het |
| Polr1b |
T |
G |
2: 128,947,200 (GRCm39) |
I175R |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,503,535 (GRCm39) |
D36G |
probably damaging |
Het |
| Prr14l |
G |
A |
5: 33,001,735 (GRCm39) |
|
probably benign |
Het |
| Rcn2 |
A |
T |
9: 55,960,266 (GRCm39) |
I178F |
probably benign |
Het |
| Sbspon |
T |
G |
1: 15,930,543 (GRCm39) |
K148Q |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,338,918 (GRCm39) |
V587E |
probably damaging |
Het |
| Setd7 |
T |
A |
3: 51,444,078 (GRCm39) |
|
probably null |
Het |
| Sh2d5 |
C |
A |
4: 137,984,108 (GRCm39) |
P85T |
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,008,602 (GRCm39) |
V204D |
possibly damaging |
Het |
| Slc2a8 |
G |
A |
2: 32,870,080 (GRCm39) |
R154* |
probably null |
Het |
| Slc36a3 |
C |
T |
11: 55,042,024 (GRCm39) |
G42S |
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,143,296 (GRCm39) |
K751R |
probably benign |
Het |
| Sult2a5 |
T |
A |
7: 13,362,768 (GRCm39) |
|
probably null |
Het |
| Thoc5 |
T |
C |
11: 4,852,306 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,805,381 (GRCm39) |
S153P |
probably damaging |
Het |
| Ubap2 |
A |
T |
4: 41,221,615 (GRCm39) |
L228Q |
probably benign |
Het |
| Upk3b |
G |
A |
5: 136,068,993 (GRCm39) |
G121S |
possibly damaging |
Het |
| Usp1 |
T |
A |
4: 98,820,544 (GRCm39) |
S456R |
probably damaging |
Het |
| Usp28 |
A |
T |
9: 48,915,202 (GRCm39) |
N126Y |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,710,878 (GRCm39) |
V2411M |
possibly damaging |
Het |
| Zfp595 |
C |
T |
13: 67,465,769 (GRCm39) |
E165K |
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 |
|
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'- TCTCCTCAGACGGACTTCAGTG -3'
(R):5'- GGCCGAAATGTAATGGTGGATC -3'
Sequencing Primer
(F):5'- CTCAGACGGACTTCAGTGAACTG -3'
(R):5'- AATGTAATGGTGGATCCGGGG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation