Incidental Mutation 'R4270:Foxo1'
| ID |
322118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxo1
|
| Ensembl Gene |
ENSMUSG00000044167 |
| Gene Name |
forkhead box O1 |
| Synonyms |
Afxh, FKHR, Foxo1a, Fkhr1 |
| MMRRC Submission |
041075-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4270 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
52175758-52257530 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52252826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 330
(T330A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053764]
|
| AlphaFold |
Q9R1E0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053764
AA Change: T330A
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000055308
Gene: ENSMUSG00000044167
AA Change: T330A
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ash1l |
T |
A |
3: 88,889,347 (GRCm39) |
C409S |
probably benign |
Het |
| Aspg |
T |
C |
12: 112,087,629 (GRCm39) |
S327P |
probably damaging |
Het |
| Ccdc88c |
G |
T |
12: 100,913,478 (GRCm39) |
Q516K |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,391,258 (GRCm39) |
D326V |
possibly damaging |
Het |
| Ctsa |
G |
T |
2: 164,677,222 (GRCm39) |
M210I |
probably benign |
Het |
| Ctsh |
A |
G |
9: 89,943,651 (GRCm39) |
H92R |
probably damaging |
Het |
| Fanca |
A |
G |
8: 123,995,533 (GRCm39) |
L117P |
probably damaging |
Het |
| Ighv1-43 |
C |
G |
12: 114,909,772 (GRCm39) |
G50A |
probably benign |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
| Kif26a |
C |
T |
12: 112,139,848 (GRCm39) |
S460F |
probably damaging |
Het |
| Mxra8 |
C |
A |
4: 155,925,594 (GRCm39) |
P98Q |
probably damaging |
Het |
| Nbr1 |
T |
C |
11: 101,458,048 (GRCm39) |
Y276H |
possibly damaging |
Het |
| Nckap1l |
T |
C |
15: 103,381,549 (GRCm39) |
L430P |
possibly damaging |
Het |
| Nubp2 |
A |
T |
17: 25,104,567 (GRCm39) |
C58S |
probably damaging |
Het |
| Or8c10 |
A |
G |
9: 38,278,997 (GRCm39) |
N52D |
probably damaging |
Het |
| Pramel51 |
A |
T |
12: 88,145,053 (GRCm39) |
I91K |
probably damaging |
Het |
| Rbms3 |
T |
A |
9: 116,885,816 (GRCm39) |
N94I |
probably damaging |
Het |
| Rimbp2 |
T |
G |
5: 128,896,841 (GRCm39) |
N23T |
probably benign |
Het |
| Rwdd3 |
T |
C |
3: 120,952,550 (GRCm39) |
D147G |
probably damaging |
Het |
| Slc30a5 |
T |
G |
13: 100,965,521 (GRCm39) |
R29S |
probably benign |
Het |
| Syt10 |
C |
A |
15: 89,675,095 (GRCm39) |
R417L |
probably benign |
Het |
| Trim58 |
T |
C |
11: 58,542,093 (GRCm39) |
V351A |
probably damaging |
Het |
| Trpc3 |
G |
T |
3: 36,717,074 (GRCm39) |
Y321* |
probably null |
Het |
| Vmn2r107 |
G |
T |
17: 20,576,041 (GRCm39) |
V124F |
probably benign |
Het |
| Xkr7 |
T |
C |
2: 152,896,235 (GRCm39) |
V363A |
possibly damaging |
Het |
| Zfp597 |
A |
T |
16: 3,689,954 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Foxo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01132:Foxo1
|
APN |
3 |
52,252,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCATCTCTCCAGTCTGGG -3'
(R):5'- AAACGAATAGCATGGTGTCTGC -3'
Sequencing Primer
(F):5'- ATCTCTCCAGTCTGGGCAAGAG -3'
(R):5'- AATAGCATGGTGTCTGCTGCATC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation