Incidental Mutation 'R9293:Foxo3'
ID 704402
Institutional Source Beutler Lab
Gene Symbol Foxo3
Ensembl Gene ENSMUSG00000048756
Gene Name forkhead box O3
Synonyms Fkhr2, 2010203A17Rik, 1110048B16Rik, Foxo3a, FKHRL1
MMRRC Submission 068991-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9293 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 42057841-42152691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 42073021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 499 (V499M)
Ref Sequence ENSEMBL: ENSMUSP00000050683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056974] [ENSMUST00000105502] [ENSMUST00000175881] [ENSMUST00000177542]
AlphaFold Q9WVH4
Predicted Effect probably damaging
Transcript: ENSMUST00000056974
AA Change: V499M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000050683
Gene: ENSMUSG00000048756
AA Change: V499M

DomainStartEndE-ValueType
low complexity region 59 71 N/A INTRINSIC
low complexity region 80 93 N/A INTRINSIC
low complexity region 107 146 N/A INTRINSIC
FH 154 244 1.3e-45 SMART
low complexity region 266 276 N/A INTRINSIC
low complexity region 341 358 N/A INTRINSIC
low complexity region 395 408 N/A INTRINSIC
Pfam:FOXO_KIX_bdg 431 510 5.5e-36 PFAM
low complexity region 529 538 N/A INTRINSIC
low complexity region 578 595 N/A INTRINSIC
Pfam:FOXO-TAD 603 644 1.9e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105502
AA Change: V499M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101141
Gene: ENSMUSG00000048756
AA Change: V499M

DomainStartEndE-ValueType
low complexity region 59 71 N/A INTRINSIC
low complexity region 80 93 N/A INTRINSIC
low complexity region 107 146 N/A INTRINSIC
FH 154 244 1.3e-45 SMART
low complexity region 266 276 N/A INTRINSIC
low complexity region 341 358 N/A INTRINSIC
low complexity region 395 408 N/A INTRINSIC
low complexity region 469 482 N/A INTRINSIC
low complexity region 529 538 N/A INTRINSIC
low complexity region 578 595 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000175881
AA Change: V499M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135380
Gene: ENSMUSG00000048756
AA Change: V499M

DomainStartEndE-ValueType
low complexity region 59 71 N/A INTRINSIC
low complexity region 80 93 N/A INTRINSIC
low complexity region 107 146 N/A INTRINSIC
FH 154 244 1.3e-45 SMART
low complexity region 266 276 N/A INTRINSIC
low complexity region 341 358 N/A INTRINSIC
low complexity region 395 408 N/A INTRINSIC
low complexity region 469 482 N/A INTRINSIC
low complexity region 529 538 N/A INTRINSIC
low complexity region 578 595 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177542
SMART Domains Protein: ENSMUSP00000135355
Gene: ENSMUSG00000048756

DomainStartEndE-ValueType
SCOP:d1e17a_ 1 21 3e-4 SMART
Blast:FH 1 28 4e-10 BLAST
PDB:3COA|F 1 43 1e-18 PDB
low complexity region 47 57 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 95% (54/57)
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. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Inactivation of the locus results in an ovarian defect involving follicular growth activation and leads progressively to female sterility. For some alleles defects in immune system function and hematopoiesis have also been reported. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,771,839 (GRCm39) S343P possibly damaging Het
4930563M21Rik T A 9: 55,916,568 (GRCm39) E36D unknown Het
Abcc8 T G 7: 45,756,092 (GRCm39) K1450T probably benign Het
Aox1 A T 1: 58,361,953 (GRCm39) N720Y possibly damaging Het
BC034090 T C 1: 155,101,518 (GRCm39) T249A probably benign Het
Brf2 A T 8: 27,614,021 (GRCm39) S388R probably damaging Het
Ccdc180 A T 4: 45,944,461 (GRCm39) Q1437L probably damaging Het
Cdc42ep1 A C 15: 78,734,025 (GRCm39) D375A probably benign Het
Cep85l T C 10: 53,174,282 (GRCm39) Y487C probably damaging Het
Cfap299 C T 5: 98,646,162 (GRCm39) A86V probably benign Het
Chd3 C T 11: 69,244,027 (GRCm39) R1346H possibly damaging Het
Cltc T A 11: 86,603,446 (GRCm39) R793S possibly damaging Het
Crat A G 2: 30,298,214 (GRCm39) F162L probably benign Het
Cyp3a44 C A 5: 145,711,187 (GRCm39) V495L probably benign Het
Dchs2 C T 3: 83,189,361 (GRCm39) T1575I possibly damaging Het
Ddx60 A G 8: 62,462,994 (GRCm39) T1292A possibly damaging Het
Dnah12 C T 14: 26,495,016 (GRCm39) A109V probably benign Het
Fry T C 5: 150,419,297 (GRCm39) S546P Het
Hfe T C 13: 23,890,792 (GRCm39) K204E probably benign Het
Hibch T A 1: 52,952,986 (GRCm39) Y329N probably damaging Het
Irf9 T G 14: 55,846,247 (GRCm39) I426S probably damaging Het
Kif26a C A 12: 112,112,835 (GRCm39) P13T probably damaging Het
Lhx5 A C 5: 120,570,451 (GRCm39) K36Q probably benign Het
Mdn1 T C 4: 32,707,579 (GRCm39) S1623P probably damaging Het
Mre11a T C 9: 14,710,884 (GRCm39) F193L probably damaging Het
Mybl2 G A 2: 162,910,135 (GRCm39) G187E probably damaging Het
Myh1 A T 11: 67,099,929 (GRCm39) Q613L probably benign Het
Myo5a T A 9: 75,087,312 (GRCm39) M1056K probably benign Het
Or1e16 T C 11: 73,285,955 (GRCm39) K298E probably damaging Het
Or4a27 G A 2: 88,559,799 (GRCm39) T48I probably benign Het
Or51ag1 C T 7: 103,155,727 (GRCm39) R142H probably benign Het
Or8b3b T C 9: 38,584,414 (GRCm39) I109V probably damaging Het
Pcdhga12 G A 18: 37,900,940 (GRCm39) V591M probably damaging Het
Phyhipl A G 10: 70,401,116 (GRCm39) S161P probably damaging Het
Pmfbp1 A G 8: 110,263,205 (GRCm39) T775A probably benign Het
Pou3f3 T C 1: 42,736,682 (GRCm39) V126A unknown Het
Reg4 A C 3: 98,143,631 (GRCm39) K142Q possibly damaging Het
Rimoc1 T C 15: 4,021,336 (GRCm39) D73G probably damaging Het
Sec22c G T 9: 121,517,314 (GRCm39) A199E probably damaging Het
Sema3d C T 5: 12,603,181 (GRCm39) P395S probably damaging Het
Sh2b2 C T 5: 136,260,893 (GRCm39) E108K possibly damaging Het
Slfn3 A G 11: 83,105,616 (GRCm39) K538E possibly damaging Het
Spatc1l A T 10: 76,405,200 (GRCm39) D194V probably damaging Het
Stoml3 T C 3: 53,408,185 (GRCm39) V77A possibly damaging Het
Taco1 A G 11: 105,963,930 (GRCm39) I230V probably benign Het
Tfcp2 T C 15: 100,411,934 (GRCm39) T346A probably benign Het
Tmem8b C T 4: 43,686,188 (GRCm39) T273M probably damaging Het
Trav6-1 A G 14: 52,876,299 (GRCm39) N73S probably benign Het
Trav6d-5 A G 14: 53,033,060 (GRCm39) D103G probably damaging Het
Ttll5 T A 12: 85,937,806 (GRCm39) L379Q probably damaging Het
Ube3c T A 5: 29,803,846 (GRCm39) probably benign Het
Ubr3 A C 2: 69,727,769 (GRCm39) D44A probably benign Het
Upp2 G T 2: 58,457,443 (GRCm39) R5L unknown Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r17 C T 5: 109,600,712 (GRCm39) T670I probably damaging Het
Zfp433 A T 10: 81,556,122 (GRCm39) H208L probably damaging Het
Zfp616 A T 11: 73,974,744 (GRCm39) I429F possibly damaging Het
Other mutations in Foxo3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0486:Foxo3 UTSW 10 42,073,477 (GRCm39) missense probably damaging 1.00
R1558:Foxo3 UTSW 10 42,073,068 (GRCm39) missense probably damaging 0.99
R1819:Foxo3 UTSW 10 42,073,607 (GRCm39) missense probably benign 0.12
R1970:Foxo3 UTSW 10 42,073,258 (GRCm39) missense probably benign 0.24
R1971:Foxo3 UTSW 10 42,073,258 (GRCm39) missense probably benign 0.24
R2447:Foxo3 UTSW 10 42,073,816 (GRCm39) missense probably benign
R3016:Foxo3 UTSW 10 42,073,352 (GRCm39) missense probably benign 0.00
R4719:Foxo3 UTSW 10 42,073,774 (GRCm39) missense probably damaging 1.00
R4926:Foxo3 UTSW 10 42,073,020 (GRCm39) missense probably damaging 0.98
R5908:Foxo3 UTSW 10 42,072,583 (GRCm39) missense probably benign 0.03
R6053:Foxo3 UTSW 10 42,073,210 (GRCm39) missense probably benign 0.26
R7142:Foxo3 UTSW 10 42,150,591 (GRCm39) splice site probably null
R7328:Foxo3 UTSW 10 42,073,258 (GRCm39) missense probably benign 0.14
R7386:Foxo3 UTSW 10 42,073,356 (GRCm39) missense probably benign 0.08
R7889:Foxo3 UTSW 10 42,151,023 (GRCm39) missense probably benign 0.41
R7896:Foxo3 UTSW 10 42,073,732 (GRCm39) missense possibly damaging 0.47
R7920:Foxo3 UTSW 10 42,073,765 (GRCm39) missense possibly damaging 0.47
R8212:Foxo3 UTSW 10 42,072,991 (GRCm39) missense possibly damaging 0.54
R8560:Foxo3 UTSW 10 42,151,278 (GRCm39) missense possibly damaging 0.95
R9294:Foxo3 UTSW 10 42,073,021 (GRCm39) missense probably damaging 0.99
R9491:Foxo3 UTSW 10 42,073,021 (GRCm39) missense probably damaging 0.99
R9502:Foxo3 UTSW 10 42,073,021 (GRCm39) missense probably damaging 0.99
R9567:Foxo3 UTSW 10 42,073,021 (GRCm39) missense probably damaging 0.99
R9584:Foxo3 UTSW 10 42,073,021 (GRCm39) missense probably damaging 0.99
R9614:Foxo3 UTSW 10 42,073,021 (GRCm39) missense probably damaging 0.99
R9651:Foxo3 UTSW 10 42,073,021 (GRCm39) missense probably damaging 0.99
R9652:Foxo3 UTSW 10 42,073,021 (GRCm39) missense probably damaging 0.99
Z1176:Foxo3 UTSW 10 42,151,261 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- AGTCACTCAAGCCCATGTTGC -3'
(R):5'- TCCTTCAACAGTACCGTGTTTG -3'

Sequencing Primer
(F):5'- TCAAGCCCATGTTGCTGACAG -3'
(R):5'- AACAGTACCGTGTTTGGACCTTC -3'
Posted On 2022-03-25