Incidental Mutation 'IGL01132:Foxo1'
| ID |
50776 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Foxo1
|
| Ensembl Gene |
ENSMUSG00000044167 |
| Gene Name |
forkhead box O1 |
| Synonyms |
Afxh, FKHR, Foxo1a, Fkhr1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01132
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
52175758-52257530 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 52252580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 248
(R248W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053764]
|
| AlphaFold |
Q9R1E0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053764
AA Change: R248W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055308
Gene: ENSMUSG00000044167
AA Change: R248W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
146 |
N/A |
INTRINSIC |
|
FH
|
155 |
245 |
4.4e-43 |
SMART |
|
low complexity region
|
258 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
419 |
N/A |
INTRINSIC |
|
Pfam:FOXO_KIX_bdg
|
420 |
501 |
2.6e-33 |
PFAM |
|
Pfam:FOXO-TAD
|
592 |
632 |
4.9e-22 |
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 belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in myogenic growth and differentiation. Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos die at E10.5-E11.5 from vasculature defects. Heterozygote null mice have slightly elevated glycogen levels. Conditionally targeted homozygotes display hemangiomas or defects in na�ve T cell homeostasis depending on the targeted cell type. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,495,732 (GRCm39) |
N619S |
probably benign |
Het |
| Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
| Aldh1a7 |
T |
C |
19: 20,704,404 (GRCm39) |
H30R |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 74,910,055 (GRCm39) |
S1483P |
probably damaging |
Het |
| Cd209e |
T |
C |
8: 3,901,274 (GRCm39) |
T127A |
probably benign |
Het |
| Clmn |
T |
A |
12: 104,740,810 (GRCm39) |
|
probably null |
Het |
| Dcc |
A |
T |
18: 71,815,245 (GRCm39) |
Y376* |
probably null |
Het |
| Dennd2b |
A |
G |
7: 109,169,212 (GRCm39) |
|
probably null |
Het |
| Dscaml1 |
C |
T |
9: 45,663,626 (GRCm39) |
R1950* |
probably null |
Het |
| Eml2 |
A |
T |
7: 18,934,464 (GRCm39) |
S388C |
probably damaging |
Het |
| Ext2 |
C |
T |
2: 93,621,418 (GRCm39) |
M370I |
probably benign |
Het |
| Gan |
T |
A |
8: 117,923,183 (GRCm39) |
|
probably benign |
Het |
| Klra1 |
A |
T |
6: 130,341,237 (GRCm39) |
C245* |
probably null |
Het |
| Myh10 |
A |
T |
11: 68,659,094 (GRCm39) |
M491L |
possibly damaging |
Het |
| Myrf |
A |
G |
19: 10,200,569 (GRCm39) |
Y343H |
probably damaging |
Het |
| Oplah |
C |
T |
15: 76,185,157 (GRCm39) |
S852N |
probably benign |
Het |
| Or6c75 |
T |
C |
10: 129,337,515 (GRCm39) |
V254A |
probably damaging |
Het |
| Or7e168 |
G |
A |
9: 19,719,950 (GRCm39) |
S112N |
probably damaging |
Het |
| Or8k37 |
A |
T |
2: 86,469,510 (GRCm39) |
C181S |
probably benign |
Het |
| Prag1 |
T |
C |
8: 36,613,511 (GRCm39) |
V1021A |
probably damaging |
Het |
| Rassf4 |
C |
T |
6: 116,636,568 (GRCm39) |
|
probably benign |
Het |
| Sf3b3 |
T |
C |
8: 111,569,413 (GRCm39) |
I102V |
probably benign |
Het |
| Slc27a4 |
T |
C |
2: 29,694,314 (GRCm39) |
I46T |
probably benign |
Het |
| Slc5a12 |
T |
C |
2: 110,428,167 (GRCm39) |
V74A |
probably damaging |
Het |
| Tas2r134 |
G |
T |
2: 51,517,671 (GRCm39) |
C50F |
probably damaging |
Het |
| Tcte1 |
G |
T |
17: 45,850,788 (GRCm39) |
A355S |
possibly damaging |
Het |
|
| Other mutations in Foxo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1595:Foxo1
|
UTSW |
3 |
52,253,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2265:Foxo1
|
UTSW |
3 |
52,253,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2567:Foxo1
|
UTSW |
3 |
52,176,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3845:Foxo1
|
UTSW |
3 |
52,253,701 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4060:Foxo1
|
UTSW |
3 |
52,252,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4179:Foxo1
|
UTSW |
3 |
52,252,840 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4270:Foxo1
|
UTSW |
3 |
52,252,826 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5242:Foxo1
|
UTSW |
3 |
52,176,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5380:Foxo1
|
UTSW |
3 |
52,176,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6044:Foxo1
|
UTSW |
3 |
52,253,258 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6224:Foxo1
|
UTSW |
3 |
52,253,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8041:Foxo1
|
UTSW |
3 |
52,253,044 (GRCm39) |
nonsense |
probably null |
|
|
R8925:Foxo1
|
UTSW |
3 |
52,252,703 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8927:Foxo1
|
UTSW |
3 |
52,252,703 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8953:Foxo1
|
UTSW |
3 |
52,253,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9163:Foxo1
|
UTSW |
3 |
52,253,301 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-06-21 |
Incidental Mutation