Incidental Mutation 'R4179:Foxo1'
Institutional Source Beutler Lab
Gene Symbol Foxo1
Ensembl Gene ENSMUSG00000044167
Gene Nameforkhead box O1
SynonymsFoxo1a, FKHR, Fkhr1, Afxh
MMRRC Submission 041015-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4179 (G1)
Quality Score225
Status Not validated
Chromosomal Location52268336-52353221 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 52345419 bp
Amino Acid Change Aspartic acid to Glutamic Acid at position 334 (D334E)
Ref Sequence ENSEMBL: ENSMUSP00000055308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053764]
Predicted Effect probably benign
Transcript: ENSMUST00000053764
AA Change: D334E

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000055308
Gene: ENSMUSG00000044167
AA Change: D334E

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 43,651,091 M506V probably benign Het
Ano1 A T 7: 144,650,505 M290K probably damaging Het
Arrdc2 A T 8: 70,837,177 L34Q probably damaging Het
Cdadc1 G T 14: 59,592,486 T77N probably benign Het
Cmtr2 C G 8: 110,221,037 probably null Het
Cnot2 A T 10: 116,498,143 V374E possibly damaging Het
Crnn T C 3: 93,146,813 M1T probably null Het
Ctsb A G 14: 63,133,452 N38D probably benign Het
Dock10 A C 1: 80,510,417 S2010A probably benign Het
Dqx1 A G 6: 83,059,479 T155A probably benign Het
Dysf G A 6: 84,186,509 probably null Het
Eci1 T C 17: 24,436,277 W119R probably damaging Het
Gck T C 11: 5,910,295 T116A probably benign Het
Gcn1l1 T C 5: 115,588,050 V588A probably benign Het
Gm7168 A G 17: 13,949,003 I211V probably benign Het
Idh3g A T X: 73,782,004 probably null Het
Jag1 A G 2: 137,101,658 F206S probably damaging Het
Loxl3 G A 6: 83,037,584 V158I probably benign Het
Ly6g A G 15: 75,155,718 probably null Het
Myo1b A G 1: 51,778,526 F532L probably damaging Het
Naip1 T A 13: 100,426,176 N827I probably damaging Het
Nlrp9c G A 7: 26,384,661 H498Y possibly damaging Het
Olfr149 A G 9: 39,702,091 I226T probably benign Het
Pak2 C G 16: 32,052,187 G59A probably benign Het
Pcdha2 T A 18: 36,941,476 L720Q probably damaging Het
Pcdhb9 T A 18: 37,401,115 M54K probably benign Het
Pde2a A G 7: 101,481,383 *71W probably null Het
Pkd2l1 T C 19: 44,192,181 N32D probably benign Het
Pkhd1l1 A C 15: 44,523,649 Y1306S probably benign Het
Plec T C 15: 76,180,215 K1953R possibly damaging Het
Plekhg4 T A 8: 105,381,398 V1029E possibly damaging Het
Prkd1 C A 12: 50,366,448 G647C probably damaging Het
Ptch1 C T 13: 63,534,329 R537H probably damaging Het
Qser1 A G 2: 104,776,384 I1510T probably benign Het
Ranbp3l T C 15: 9,057,198 I314T possibly damaging Het
Rgs9 C A 11: 109,281,448 probably null Het
Riok1 T C 13: 38,048,955 F216L probably damaging Het
Rrm1 T A 7: 102,457,198 I308N probably damaging Het
Serpina1f A T 12: 103,691,920 M242K probably benign Het
Smox G A 2: 131,524,850 M576I possibly damaging Het
Spaca7 A T 8: 12,586,435 N87I probably damaging Het
Spink5 A T 18: 43,987,867 Q296L probably benign Het
Sspo T C 6: 48,498,395 probably null Het
Sult2b1 T A 7: 45,735,311 I114F probably damaging Het
Tex12 T C 9: 50,559,287 probably null Het
Tonsl A G 15: 76,624,475 L26P probably damaging Het
Top2b T G 14: 16,409,189 I777M probably damaging Het
Tsen54 T C 11: 115,820,852 V365A probably damaging Het
Ttn A T 2: 76,811,243 L5176Q possibly damaging Het
Usp47 T C 7: 112,087,884 L683P probably damaging Het
Wdr18 T C 10: 79,965,041 L146P probably damaging Het
Zfp709 A G 8: 71,889,906 Y392C probably damaging Het
Zranb3 A T 1: 127,960,864 I828N possibly damaging Het
Other mutations in Foxo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01132:Foxo1 APN 3 52345159 missense probably damaging 1.00
R1595:Foxo1 UTSW 3 52345954 missense probably benign 0.00
R2265:Foxo1 UTSW 3 52345912 missense probably benign 0.00
R2567:Foxo1 UTSW 3 52269334 missense probably damaging 1.00
R3845:Foxo1 UTSW 3 52346280 missense probably benign 0.39
R4060:Foxo1 UTSW 3 52345162 missense probably damaging 1.00
R4270:Foxo1 UTSW 3 52345405 missense probably benign 0.45
R5242:Foxo1 UTSW 3 52269255 missense probably damaging 1.00
R5380:Foxo1 UTSW 3 52269025 missense probably damaging 1.00
R6044:Foxo1 UTSW 3 52345837 missense probably benign 0.22
R6224:Foxo1 UTSW 3 52345672 missense probably benign 0.00
R8041:Foxo1 UTSW 3 52345623 nonsense probably null
R8927:Foxo1 UTSW 3 52345282 missense not run
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-06-10