Incidental Mutation 'IGL02739:Epas1'
| ID |
305807 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02739
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
86753907-86833410 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86805282 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 103
(T103A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024954]
|
| AlphaFold |
P97481 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024954
AA Change: T103A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: T103A
| 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 |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 76,878,517 (GRCm38) |
C887S |
possibly damaging |
Het |
| Adamdec1 |
C |
A |
14: 68,570,156 (GRCm38) |
E352* |
probably null |
Het |
| Bglap2 |
A |
T |
3: 88,378,012 (GRCm38) |
|
probably null |
Het |
| Bsn |
A |
T |
9: 108,112,546 (GRCm38) |
H2002Q |
probably benign |
Het |
| Chtop |
T |
A |
3: 90,502,250 (GRCm38) |
Q165L |
possibly damaging |
Het |
| Clcn1 |
A |
T |
6: 42,286,780 (GRCm38) |
|
probably null |
Het |
| Ctsr |
T |
C |
13: 61,161,844 (GRCm38) |
T184A |
probably benign |
Het |
| Defb36 |
T |
C |
2: 152,604,519 (GRCm38) |
L11P |
unknown |
Het |
| Dock8 |
A |
G |
19: 25,188,488 (GRCm38) |
E1912G |
probably damaging |
Het |
| Dpp3 |
A |
G |
19: 4,923,728 (GRCm38) |
Y106H |
probably damaging |
Het |
| Epcam |
A |
T |
17: 87,640,494 (GRCm38) |
T131S |
probably benign |
Het |
| Fam169a |
A |
G |
13: 97,094,055 (GRCm38) |
|
probably benign |
Het |
| Gh |
T |
A |
11: 106,301,733 (GRCm38) |
|
probably benign |
Het |
| Kif20a |
A |
T |
18: 34,628,943 (GRCm38) |
K399* |
probably null |
Het |
| Lrp1b |
A |
G |
2: 41,498,215 (GRCm38) |
I466T |
probably damaging |
Het |
| Nlk |
A |
G |
11: 78,574,851 (GRCm38) |
V409A |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 46,044,307 (GRCm38) |
|
probably null |
Het |
| Nr2c1 |
T |
A |
10: 94,156,972 (GRCm38) |
M16K |
probably damaging |
Het |
| Nxph2 |
A |
T |
2: 23,399,900 (GRCm38) |
Q88L |
probably benign |
Het |
| Olfr33 |
A |
G |
7: 102,714,314 (GRCm38) |
I33T |
possibly damaging |
Het |
| Pkdrej |
T |
A |
15: 85,819,694 (GRCm38) |
R680S |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,540,950 (GRCm38) |
N2325I |
probably benign |
Het |
| Pnliprp2 |
T |
C |
19: 58,760,509 (GRCm38) |
|
probably null |
Het |
| Ppp1r42 |
T |
A |
1: 9,968,853 (GRCm38) |
K347N |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,851,585 (GRCm38) |
V407A |
possibly damaging |
Het |
| Psmb8 |
C |
A |
17: 34,200,754 (GRCm38) |
S194* |
probably null |
Het |
| Rnf214 |
T |
C |
9: 45,869,474 (GRCm38) |
I406V |
probably benign |
Het |
| Rreb1 |
C |
T |
13: 37,893,821 (GRCm38) |
S3L |
probably damaging |
Het |
| Sdad1 |
C |
T |
5: 92,290,072 (GRCm38) |
A539T |
probably benign |
Het |
| Sema3a |
A |
G |
5: 13,451,161 (GRCm38) |
Y57C |
probably damaging |
Het |
| Susd5 |
A |
G |
9: 114,096,033 (GRCm38) |
E328G |
possibly damaging |
Het |
| Syngr3 |
T |
C |
17: 24,686,398 (GRCm38) |
T175A |
probably damaging |
Het |
| Tcf20 |
T |
A |
15: 82,856,080 (GRCm38) |
Q390L |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 33,581,693 (GRCm38) |
T2423A |
possibly damaging |
Het |
| Tlr1 |
T |
C |
5: 64,927,126 (GRCm38) |
N36S |
probably benign |
Het |
| Uchl4 |
C |
T |
9: 64,235,537 (GRCm38) |
T100M |
probably damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,305,129 (GRCm38) |
K11R |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,879,900 (GRCm38) |
D3040E |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 30,242,460 (GRCm38) |
Y640* |
probably null |
Het |
| Zkscan17 |
T |
G |
11: 59,503,526 (GRCm38) |
E83A |
probably damaging |
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 |
|
|
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 |
|
R3056:Epas1
|
UTSW |
17 |
86,830,981 (GRCm38) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation