Incidental Mutation 'R6044:Foxo1'
ID 483701
Institutional Source Beutler Lab
Gene Symbol Foxo1
Ensembl Gene ENSMUSG00000044167
Gene Name forkhead box O1
Synonyms Afxh, FKHR, Foxo1a, Fkhr1
MMRRC Submission 044212-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6044 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 52175758-52257530 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52253258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 474 (M474V)
Ref Sequence ENSEMBL: ENSMUSP00000055308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053764]
AlphaFold Q9R1E0
Predicted Effect probably benign
Transcript: ENSMUST00000053764
AA Change: M474V

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000055308
Gene: ENSMUSG00000044167
AA Change: M474V

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.0%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G A 14: 32,382,614 (GRCm39) S1117L possibly damaging Het
Adamts20 A T 15: 94,180,364 (GRCm39) Y1764N probably damaging Het
Adamtsl1 A T 4: 86,130,928 (GRCm39) D223V probably damaging Het
Agbl1 T C 7: 75,967,868 (GRCm39) V31A possibly damaging Het
Alk T C 17: 72,299,095 (GRCm39) H462R probably benign Het
Amt A T 9: 108,174,450 (GRCm39) T72S probably damaging Het
Atp12a T A 14: 56,613,612 (GRCm39) D461E probably damaging Het
Bcan C A 3: 87,902,950 (GRCm39) C276F probably damaging Het
Crispld2 T C 8: 120,737,410 (GRCm39) S54P possibly damaging Het
Cyp11a1 A T 9: 57,933,987 (GRCm39) N478I probably damaging Het
Des A T 1: 75,340,113 (GRCm39) probably null Het
Dnajc6 A T 4: 101,473,774 (GRCm39) I427F probably benign Het
Eml4 T G 17: 83,753,379 (GRCm39) L281R probably damaging Het
Fam186a T C 15: 99,839,878 (GRCm39) Y2122C probably damaging Het
Fndc11 T A 2: 180,863,459 (GRCm39) L88Q probably damaging Het
Gap43 A T 16: 42,112,550 (GRCm39) D70E probably benign Het
Gemin4 T C 11: 76,103,760 (GRCm39) M334V probably benign Het
Gm973 T C 1: 59,667,393 (GRCm39) L718P probably benign Het
Gprin3 G T 6: 59,330,657 (GRCm39) T550N possibly damaging Het
Hddc3 T A 7: 79,993,332 (GRCm39) V53E probably benign Het
Itpr2 A T 6: 146,298,449 (GRCm39) D12E probably null Het
Klri2 T A 6: 129,717,247 (GRCm39) E45D probably damaging Het
Lct A G 1: 128,235,717 (GRCm39) V430A possibly damaging Het
Mcm8 T C 2: 132,673,600 (GRCm39) probably null Het
Mmp12 A G 9: 7,350,050 (GRCm39) T184A possibly damaging Het
Morc3 T C 16: 93,663,330 (GRCm39) V511A probably benign Het
Mta2 T C 19: 8,925,695 (GRCm39) Y397H probably damaging Het
Naa50 G A 16: 43,979,890 (GRCm39) E93K possibly damaging Het
Or14j2 G A 17: 37,885,426 (GRCm39) T296M probably damaging Het
Or2t26 T C 11: 49,039,522 (GRCm39) V146A probably benign Het
Or4a77 T A 2: 89,487,516 (GRCm39) I90F probably damaging Het
Or4c126 T C 2: 89,823,761 (GRCm39) I8T possibly damaging Het
Or4k40 T C 2: 111,250,423 (GRCm39) N291S probably damaging Het
Padi4 A G 4: 140,475,438 (GRCm39) S576P possibly damaging Het
Poglut2 A T 1: 44,153,611 (GRCm39) L221* probably null Het
Prss47 A T 13: 65,197,120 (GRCm39) Y111* probably null Het
Ptprm A G 17: 67,000,857 (GRCm39) V1100A probably damaging Het
Rab11fip3 G A 17: 26,286,843 (GRCm39) P437S possibly damaging Het
Rsph14 C T 10: 74,867,102 (GRCm39) D15N probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slco1a1 A G 6: 141,885,743 (GRCm39) V94A probably benign Het
Smpdl3a A G 10: 57,687,358 (GRCm39) E362G possibly damaging Het
Sva A T 6: 42,017,034 (GRCm39) Y47F probably benign Het
Tatdn3 A G 1: 190,788,558 (GRCm39) probably null Het
Tlcd4 A T 3: 121,001,018 (GRCm39) I205K probably damaging Het
Tlcd5 A G 9: 43,024,903 (GRCm39) S18P probably benign Het
Tmem131 G A 1: 36,920,422 (GRCm39) Q93* probably null Het
Trpm7 T C 2: 126,656,665 (GRCm39) E1184G probably damaging Het
Ubr1 T C 2: 120,693,202 (GRCm39) I1735V probably benign Het
Usp40 A T 1: 87,917,872 (GRCm39) I325K probably benign Het
Vmn2r27 T G 6: 124,208,731 (GRCm39) I5L probably benign Het
Wee1 C T 7: 109,738,513 (GRCm39) T542I probably benign Het
Wrn G A 8: 33,726,457 (GRCm39) P1129S probably damaging Het
Zfyve16 G A 13: 92,659,174 (GRCm39) Q246* probably null 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
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
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'- TTCGTTTGCACCGCCAAAC -3'
(R):5'- CATGGTGTTCACCACATGGG -3'

Sequencing Primer
(F):5'- CCAGTCTAAATTCACCCAGTCC -3'
(R):5'- TGTTCACCACATGGGGCAGG -3'
Posted On 2017-07-14