Incidental Mutation 'R5604:Epas1'
ID |
439217 |
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 |
043156-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5604 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
87061292-87140838 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 87113200 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 129
(H129Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024954
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024954]
|
AlphaFold |
P97481 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024954
AA Change: H129Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000024954 Gene: ENSMUSG00000024140 AA Change: H129Y
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310034C09Rik |
A |
T |
16: 88,556,278 (GRCm39) |
N164I |
possibly damaging |
Het |
4933402J07Rik |
C |
A |
8: 88,295,125 (GRCm39) |
R88S |
possibly damaging |
Het |
Abca1 |
A |
T |
4: 53,067,168 (GRCm39) |
|
probably null |
Het |
Abca13 |
T |
A |
11: 9,516,279 (GRCm39) |
I4406K |
probably damaging |
Het |
Adam6b |
T |
A |
12: 113,454,420 (GRCm39) |
Y412* |
probably null |
Het |
Ahcyl2 |
C |
T |
6: 29,908,366 (GRCm39) |
H370Y |
probably damaging |
Het |
Ahi1 |
A |
G |
10: 20,862,904 (GRCm39) |
Y693C |
probably damaging |
Het |
Anapc4 |
T |
A |
5: 52,999,076 (GRCm39) |
Y129* |
probably null |
Het |
Ankrd35 |
A |
G |
3: 96,592,215 (GRCm39) |
T834A |
probably benign |
Het |
Antxr2 |
T |
C |
5: 98,096,169 (GRCm39) |
K372E |
probably damaging |
Het |
Arhgef1 |
C |
T |
7: 24,612,210 (GRCm39) |
H198Y |
probably benign |
Het |
Barhl2 |
T |
C |
5: 106,603,412 (GRCm39) |
E249G |
probably benign |
Het |
C2cd5 |
T |
C |
6: 142,957,747 (GRCm39) |
E987G |
probably benign |
Het |
C87436 |
T |
C |
6: 86,424,337 (GRCm39) |
S290P |
probably benign |
Het |
Ccser1 |
C |
T |
6: 61,290,788 (GRCm39) |
T490M |
probably damaging |
Het |
Cd8b1 |
T |
C |
6: 71,303,159 (GRCm39) |
V78A |
probably benign |
Het |
Cdc25c |
A |
G |
18: 34,866,701 (GRCm39) |
Y374H |
probably damaging |
Het |
Cmya5 |
C |
T |
13: 93,229,271 (GRCm39) |
R1939H |
probably benign |
Het |
Cyp2d40 |
A |
G |
15: 82,648,256 (GRCm39) |
F19S |
probably damaging |
Het |
Dll3 |
A |
G |
7: 27,994,057 (GRCm39) |
V460A |
probably benign |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
E4f1 |
A |
G |
17: 24,663,118 (GRCm39) |
I729T |
probably damaging |
Het |
Endou |
A |
C |
15: 97,618,800 (GRCm39) |
S75A |
probably benign |
Het |
Grm1 |
T |
A |
10: 10,622,479 (GRCm39) |
N415Y |
probably damaging |
Het |
Hdc |
A |
T |
2: 126,436,583 (GRCm39) |
S429R |
probably benign |
Het |
Hnf4g |
C |
T |
3: 3,722,186 (GRCm39) |
Q447* |
probably null |
Het |
Htr6 |
C |
T |
4: 138,788,814 (GRCm39) |
A414T |
probably benign |
Het |
Insig1 |
T |
C |
5: 28,280,080 (GRCm39) |
L224P |
probably damaging |
Het |
Ipo9 |
G |
A |
1: 135,329,983 (GRCm39) |
L486F |
probably damaging |
Het |
Irak2 |
T |
A |
6: 113,667,792 (GRCm39) |
S458T |
possibly damaging |
Het |
Irs2 |
A |
G |
8: 11,055,007 (GRCm39) |
S1142P |
possibly damaging |
Het |
Kirrel1 |
T |
A |
3: 86,996,462 (GRCm39) |
N379I |
possibly damaging |
Het |
L3mbtl4 |
T |
A |
17: 69,084,917 (GRCm39) |
D609E |
probably benign |
Het |
Lama3 |
A |
G |
18: 12,572,405 (GRCm39) |
T537A |
probably benign |
Het |
Lce1i |
A |
T |
3: 92,685,056 (GRCm39) |
V40E |
unknown |
Het |
Mprip |
T |
A |
11: 59,649,293 (GRCm39) |
V999D |
probably benign |
Het |
Myd88 |
G |
T |
9: 119,168,829 (GRCm39) |
T85K |
possibly damaging |
Het |
Or1e35 |
T |
A |
11: 73,797,853 (GRCm39) |
H155L |
probably benign |
Het |
Padi6 |
A |
T |
4: 140,458,473 (GRCm39) |
M473K |
probably damaging |
Het |
Pcdh12 |
T |
A |
18: 38,401,935 (GRCm39) |
S97C |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,783,877 (GRCm39) |
D2026V |
probably damaging |
Het |
Plcxd1 |
T |
C |
5: 110,250,451 (GRCm39) |
V264A |
probably benign |
Het |
Plekha4 |
T |
C |
7: 45,198,580 (GRCm39) |
S558P |
probably damaging |
Het |
Ppm1a |
T |
A |
12: 72,837,455 (GRCm39) |
M334K |
probably benign |
Het |
Ppp1r13l |
T |
C |
7: 19,109,524 (GRCm39) |
S684P |
possibly damaging |
Het |
Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
Prl2a1 |
T |
C |
13: 27,990,369 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
T |
C |
13: 63,672,936 (GRCm39) |
K753E |
probably benign |
Het |
Qrich1 |
A |
G |
9: 108,436,502 (GRCm39) |
|
probably benign |
Het |
Ror2 |
G |
A |
13: 53,271,201 (GRCm39) |
R373C |
probably benign |
Het |
Rtn4 |
C |
A |
11: 29,658,140 (GRCm39) |
L765I |
probably damaging |
Het |
Sema3a |
T |
C |
5: 13,523,487 (GRCm39) |
|
probably null |
Het |
Setd2 |
T |
A |
9: 110,433,284 (GRCm39) |
D62E |
probably damaging |
Het |
Ss18 |
A |
T |
18: 14,769,577 (GRCm39) |
Y327N |
unknown |
Het |
Ticam1 |
G |
A |
17: 56,578,756 (GRCm39) |
T113I |
probably benign |
Het |
Tnrc6a |
A |
G |
7: 122,773,459 (GRCm39) |
I1134V |
probably damaging |
Het |
Top3b |
T |
G |
16: 16,707,399 (GRCm39) |
Y526* |
probably null |
Het |
Tph2 |
T |
C |
10: 114,926,614 (GRCm39) |
E384G |
probably damaging |
Het |
Ttll11 |
A |
T |
2: 35,707,798 (GRCm39) |
I503N |
probably benign |
Het |
Zfp87 |
T |
G |
13: 67,665,945 (GRCm39) |
K172N |
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 |
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 |
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'- AAATCAAGCCCTTGTTGCCATC -3'
(R):5'- GCTGCATACTCACCCAGAAG -3'
Sequencing Primer
(F):5'- CTGATACGTCTGTAAGTCCATAGACC -3'
(R):5'- GCTAGTCCAACTGTATCTATGGAAC -3'
|
Posted On |
2016-10-26 |