Incidental Mutation 'R4342:Epas1'
| ID |
324206 |
| 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 |
041100-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4342 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
87061292-87140838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87131228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 336
(C336Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024954]
|
| AlphaFold |
P97481 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024954
AA Change: C336Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024954
Gene: ENSMUSG00000024140
AA Change: C336Y
| 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 |
|
| Meta Mutation Damage Score |
0.9530 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
99% (68/69) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
C |
17: 45,827,421 (GRCm39) |
C488R |
probably benign |
Het |
| Adamts19 |
A |
T |
18: 59,075,572 (GRCm39) |
H489L |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,989,447 (GRCm39) |
V3577A |
possibly damaging |
Het |
| Ajm1 |
A |
G |
2: 25,469,120 (GRCm39) |
Y264H |
possibly damaging |
Het |
| Arhgap44 |
G |
A |
11: 64,902,887 (GRCm39) |
R401* |
probably null |
Het |
| Cbx3-ps2 |
T |
C |
13: 65,707,502 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc174 |
T |
A |
6: 91,862,337 (GRCm39) |
L86* |
probably null |
Het |
| Cd38 |
A |
C |
5: 44,026,431 (GRCm39) |
I72L |
probably benign |
Het |
| Cers4 |
T |
C |
8: 4,571,223 (GRCm39) |
L264P |
probably damaging |
Het |
| Cldn23 |
A |
G |
8: 36,292,652 (GRCm39) |
S279P |
probably benign |
Het |
| Cth |
T |
A |
3: 157,630,613 (GRCm39) |
T19S |
probably damaging |
Het |
| Dnajc22 |
T |
A |
15: 99,002,345 (GRCm39) |
L330* |
probably null |
Het |
| Evi5l |
A |
C |
8: 4,233,492 (GRCm39) |
|
probably benign |
Het |
| Fbxl2 |
A |
T |
9: 113,814,374 (GRCm39) |
H272Q |
probably benign |
Het |
| Fgd3 |
C |
T |
13: 49,427,185 (GRCm39) |
|
probably null |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fscn1 |
T |
C |
5: 142,957,776 (GRCm39) |
Y308H |
probably damaging |
Het |
| Garin3 |
A |
G |
11: 46,298,043 (GRCm39) |
D449G |
possibly damaging |
Het |
| Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
| Gpatch2l |
T |
C |
12: 86,307,453 (GRCm39) |
V277A |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,544,561 (GRCm39) |
M1385K |
probably benign |
Het |
| Grin2a |
A |
G |
16: 9,471,453 (GRCm39) |
I605T |
possibly damaging |
Het |
| Hoxc11 |
C |
T |
15: 102,863,106 (GRCm39) |
S49F |
probably damaging |
Het |
| Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
| Ighv10-3 |
A |
T |
12: 114,487,124 (GRCm39) |
M99K |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,879,555 (GRCm39) |
T614S |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,910,756 (GRCm39) |
V461A |
probably damaging |
Het |
| Mcts2 |
G |
A |
2: 152,529,584 (GRCm39) |
V132M |
probably damaging |
Het |
| Mical3 |
C |
A |
6: 120,911,799 (GRCm39) |
E1083* |
probably null |
Het |
| Nbeal2 |
A |
G |
9: 110,460,861 (GRCm39) |
|
probably benign |
Het |
| Nek4 |
T |
C |
14: 30,675,863 (GRCm39) |
V66A |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
| Nhsl1 |
T |
C |
10: 18,402,437 (GRCm39) |
F1221S |
probably damaging |
Het |
| Nr1d1 |
T |
G |
11: 98,662,640 (GRCm39) |
K118Q |
probably damaging |
Het |
| Ntaq1 |
T |
C |
15: 58,016,110 (GRCm39) |
S120P |
probably benign |
Het |
| Ntm |
T |
C |
9: 29,020,727 (GRCm39) |
E164G |
probably damaging |
Het |
| Or51a7 |
A |
G |
7: 102,615,231 (GRCm39) |
N308S |
probably benign |
Het |
| Parp1 |
G |
T |
1: 180,414,894 (GRCm39) |
A411S |
probably benign |
Het |
| Pds5b |
A |
G |
5: 150,724,319 (GRCm39) |
T1301A |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,128,841 (GRCm39) |
V3954A |
probably benign |
Het |
| Pkp4 |
A |
T |
2: 59,180,952 (GRCm39) |
K739I |
probably damaging |
Het |
| Pla2g4e |
T |
C |
2: 120,016,927 (GRCm39) |
|
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,442,107 (GRCm39) |
L96P |
probably damaging |
Het |
| Rbm6 |
A |
T |
9: 107,724,446 (GRCm39) |
|
probably benign |
Het |
| Scp2d1 |
T |
C |
2: 144,666,087 (GRCm39) |
L142P |
probably damaging |
Het |
| Setd5 |
AT |
ATT |
6: 113,088,281 (GRCm39) |
|
probably benign |
Het |
| Sgf29 |
G |
A |
7: 126,270,949 (GRCm39) |
C143Y |
probably damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,591,129 (GRCm39) |
I156T |
probably benign |
Het |
| Stambpl1 |
A |
G |
19: 34,211,446 (GRCm39) |
Q169R |
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,457,832 (GRCm39) |
|
probably benign |
Het |
| Trip11 |
A |
T |
12: 101,850,575 (GRCm39) |
I878N |
probably damaging |
Het |
| Ttf1 |
C |
T |
2: 28,955,488 (GRCm39) |
S284L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,287,582 (GRCm39) |
V195E |
probably damaging |
Het |
| Vmn1r14 |
T |
A |
6: 57,210,808 (GRCm39) |
Y85N |
probably benign |
Het |
| Zfp131 |
C |
T |
13: 120,237,554 (GRCm39) |
R268H |
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 |
|
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 |
|
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'- CACTTCCTGTGGGGTTAGAG -3'
(R):5'- TCAGCACAAGTCAGAGACATG -3'
Sequencing Primer
(F):5'- GGGTTAGAGTGTGTGCTGC -3'
(R):5'- TCAGAGACATGATACCATAGCTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation