|Institutional Source||Beutler Lab|
|Gene Name||forkhead box O1|
|Synonyms||Foxo1a, FKHR, Fkhr1, Afxh|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4060 (G1)|
|Chromosomal Location||52268336-52353221 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 52345162 bp|
|Amino Acid Change||Arginine to Glycine at position 249 (R249G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055308 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053764]|
|Predicted Effect||probably damaging
AA Change: R249G
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: R249G
|Meta Mutation Damage Score||0.4494|
|Coding Region Coverage||
|Validation Efficiency||95% (41/43)|
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 naï¿½ve T cell homeostasis depending on the targeted cell type. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Foxo1||
(F):5'- TGTTAGGCTGCTCAGAATGG -3'
(R):5'- TATCAAAGTCATCGTTGCTGTGG -3'
(F):5'- TCTGATCCCCATTGAGCAGTAAG -3'
(R):5'- TCATCGTTGCTGTGGGACCC -3'