Incidental Mutation 'R4060:Foxo1'
ID 315810
Institutional Source Beutler Lab
Gene Symbol Foxo1
Ensembl Gene ENSMUSG00000044167
Gene Name forkhead box O1
Synonyms Afxh, FKHR, Foxo1a, Fkhr1
MMRRC Submission 041618-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4060 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 52175758-52257530 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52252583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 249 (R249G)
Ref Sequence ENSEMBL: ENSMUSP00000055308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053764]
AlphaFold Q9R1E0
Predicted Effect probably damaging
Transcript: ENSMUST00000053764
AA Change: R249G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055308
Gene: ENSMUSG00000044167
AA Change: R249G

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.4494 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 95% (41/43)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A T 1: 53,197,928 (GRCm39) L140Q probably damaging Het
Abca8b A T 11: 109,848,027 (GRCm39) M756K probably benign Het
Cd44 T C 2: 102,731,687 (GRCm39) D2G probably damaging Het
Cdan1 T C 2: 120,556,224 (GRCm39) I681V probably benign Het
Cdc5l C T 17: 45,721,816 (GRCm39) A485T probably benign Het
Cfh T C 1: 140,047,664 (GRCm39) I488M possibly damaging Het
Cntn2 T A 1: 132,453,634 (GRCm39) L346F probably damaging Het
Creb3l2 T C 6: 37,311,484 (GRCm39) H435R probably benign Het
Dmbt1 A G 7: 130,675,932 (GRCm39) probably benign Het
Fam162a C T 16: 35,864,451 (GRCm39) R38K probably benign Het
Fat1 A T 8: 45,478,518 (GRCm39) E2521D probably benign Het
Grm6 A G 11: 50,744,051 (GRCm39) E174G probably damaging Het
Gtpbp2 G A 17: 46,478,253 (GRCm39) R467H probably damaging Het
Hypk A G 2: 121,284,160 (GRCm39) probably benign Het
Ifih1 T C 2: 62,429,143 (GRCm39) T932A possibly damaging Het
Igfbp1 C A 11: 7,148,091 (GRCm39) P45T probably damaging Het
Ik A G 18: 36,881,943 (GRCm39) K142E probably damaging Het
Ltbp3 T C 19: 5,792,348 (GRCm39) L27P probably benign Het
Mast3 A G 8: 71,233,838 (GRCm39) V969A probably damaging Het
Mrps24 G A 11: 5,654,676 (GRCm39) R93* probably null Het
Or13a20 T C 7: 140,232,033 (GRCm39) I47T probably damaging Het
Or1j14 A G 2: 36,417,426 (GRCm39) M1V probably null Het
Or7g19 T C 9: 18,856,346 (GRCm39) V134A probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Pcdhb20 A G 18: 37,639,217 (GRCm39) E581G probably damaging Het
Rnf146 T C 10: 29,223,363 (GRCm39) I174M probably damaging Het
Serpinb9g G A 13: 33,679,089 (GRCm39) V320I probably benign Het
Sh3pxd2b G T 11: 32,372,263 (GRCm39) A477S probably benign Het
Slc23a3 T G 1: 75,109,964 (GRCm39) probably benign Het
Ssrp1 T G 2: 84,871,978 (GRCm39) Y401D probably damaging Het
Tas2r109 A T 6: 132,957,148 (GRCm39) W261R probably damaging Het
Tas2r144 T C 6: 42,192,563 (GRCm39) V101A possibly damaging Het
Tead1 T A 7: 112,475,269 (GRCm39) probably null Het
Tiam2 A G 17: 3,479,255 (GRCm39) S663G probably benign Het
Trbv20 T G 6: 41,165,195 (GRCm39) probably benign Het
Tspan9 T C 6: 128,011,135 (GRCm39) I19M probably benign Het
Ttbk2 T A 2: 120,579,465 (GRCm39) E552D probably benign Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Other mutations in Foxo1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TGTTAGGCTGCTCAGAATGG -3'
(R):5'- TATCAAAGTCATCGTTGCTGTGG -3'

Sequencing Primer
(F):5'- TCTGATCCCCATTGAGCAGTAAG -3'
(R):5'- TCATCGTTGCTGTGGGACCC -3'
Posted On 2015-05-15