Incidental Mutation 'R1970:Foxo3'
ID 219749
Institutional Source Beutler Lab
Gene Symbol Foxo3
Ensembl Gene ENSMUSG00000048756
Gene Name forkhead box O3
Synonyms Fkhr2, 2010203A17Rik, 1110048B16Rik, Foxo3a, FKHRL1
MMRRC Submission 039983-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1970 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 42057841-42152691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42073258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 420 (S420P)
Ref Sequence ENSEMBL: ENSMUSP00000135380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056974] [ENSMUST00000105502] [ENSMUST00000175881] [ENSMUST00000177542]
AlphaFold Q9WVH4
Predicted Effect probably benign
Transcript: ENSMUST00000056974
AA Change: S420P

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000050683
Gene: ENSMUSG00000048756
AA Change: S420P

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 benign
Transcript: ENSMUST00000105502
AA Change: S420P

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101141
Gene: ENSMUSG00000048756
AA Change: S420P

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: ENSMUST00000175881
AA Change: S420P

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000135380
Gene: ENSMUSG00000048756
AA Change: S420P

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
Meta Mutation Damage Score 0.0848 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 97% (121/125)
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: 121 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,526,549 (GRCm39) H578Q probably benign Het
Abcc12 A G 8: 87,253,910 (GRCm39) I958T probably benign Het
Abcg5 AATCATTTG AG 17: 84,981,030 (GRCm39) probably null Het
Acap2 A G 16: 30,952,345 (GRCm39) probably null Het
Adgrb1 T C 15: 74,411,726 (GRCm39) probably benign Het
Akap6 T A 12: 52,985,258 (GRCm39) V897E probably damaging Het
Als2 A T 1: 59,254,328 (GRCm39) L343Q probably benign Het
Arhgap5 A G 12: 52,589,376 (GRCm39) I1275M probably damaging Het
Arnt C T 3: 95,355,704 (GRCm39) S16L possibly damaging Het
Bglap3 C T 3: 88,284,300 (GRCm39) probably benign Het
Blnk T C 19: 40,928,609 (GRCm39) probably benign Het
C1qtnf4 T C 2: 90,720,003 (GRCm39) M92T probably damaging Het
Ccdc177 G A 12: 80,805,486 (GRCm39) R263C unknown Het
Ccdc83 T A 7: 89,893,362 (GRCm39) S132C probably damaging Het
Cdc7 A G 5: 107,120,940 (GRCm39) probably benign Het
Cgnl1 T A 9: 71,632,817 (GRCm39) N178I probably benign Het
Col27a1 C T 4: 63,191,354 (GRCm39) probably benign Het
Col5a1 A T 2: 27,876,766 (GRCm39) M822L unknown Het
Coro7 T C 16: 4,451,620 (GRCm39) I451V probably benign Het
Csmd3 T C 15: 48,536,927 (GRCm39) T92A probably damaging Het
Ddc A G 11: 11,765,292 (GRCm39) V460A possibly damaging Het
Ddx4 C T 13: 112,736,547 (GRCm39) V608I probably damaging Het
Ddx60 A T 8: 62,425,240 (GRCm39) H676L possibly damaging Het
Dmtf1 T C 5: 9,198,989 (GRCm39) E48G probably benign Het
Dpf3 T A 12: 83,371,809 (GRCm39) probably null Het
Dydc2 A G 14: 40,783,860 (GRCm39) C88R probably benign Het
Elovl4 A G 9: 83,662,772 (GRCm39) Y163H probably damaging Het
Enpp2 T C 15: 54,746,378 (GRCm39) D296G probably damaging Het
Fam83h G T 15: 75,878,419 (GRCm39) probably benign Het
Fbf1 T A 11: 116,042,317 (GRCm39) Q511L possibly damaging Het
Fhdc1 A T 3: 84,362,158 (GRCm39) L323Q probably damaging Het
Fmnl2 T A 2: 52,995,588 (GRCm39) V437D possibly damaging Het
Foxp4 C T 17: 48,186,796 (GRCm39) R378Q unknown Het
Garem2 G T 5: 30,322,172 (GRCm39) G844* probably null Het
Glmp T C 3: 88,235,177 (GRCm39) L269S probably damaging Het
Gm9915 T C 1: 42,269,881 (GRCm39) noncoding transcript Het
Gnb4 A T 3: 32,652,290 (GRCm39) D27E probably damaging Het
Gnb5 A G 9: 75,251,932 (GRCm39) probably null Het
Gpr161 T G 1: 165,133,927 (GRCm39) V63G probably damaging Het
Gsk3a T A 7: 24,929,146 (GRCm39) probably benign Het
Hapln2 T C 3: 87,931,427 (GRCm39) probably null Het
Incenp G T 19: 9,862,851 (GRCm39) T401N unknown Het
Kalrn A G 16: 33,797,894 (GRCm39) probably null Het
Kcnq3 A G 15: 65,900,472 (GRCm39) probably null Het
Kif21b T C 1: 136,098,894 (GRCm39) V1394A probably damaging Het
Klhl23 T C 2: 69,664,030 (GRCm39) C460R probably damaging Het
L3mbtl1 G A 2: 162,801,492 (GRCm39) A291T probably damaging Het
Lcp1 T C 14: 75,437,946 (GRCm39) S119P probably damaging Het
Ldhc A G 7: 46,519,175 (GRCm39) I133V probably benign Het
Lmntd2 G A 7: 140,791,972 (GRCm39) probably benign Het
Lpl A T 8: 69,349,454 (GRCm39) K327* probably null Het
Lrp1b T C 2: 40,765,081 (GRCm39) D2801G probably damaging Het
Mppe1 C A 18: 67,362,843 (GRCm39) A131S probably benign Het
Msh3 T A 13: 92,386,328 (GRCm39) probably benign Het
Msh5 A G 17: 35,252,576 (GRCm39) I377T probably damaging Het
Myo1e T C 9: 70,276,055 (GRCm39) F757L probably benign Het
Myof A T 19: 37,934,082 (GRCm39) D955E probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Ncor2 T C 5: 125,115,982 (GRCm39) D858G probably damaging Het
Neb A T 2: 52,153,917 (GRCm39) V2398D possibly damaging Het
Nefl C G 14: 68,324,121 (GRCm39) T453R probably benign Het
Nf1 A G 11: 79,444,787 (GRCm39) N371D probably benign Het
Nhsl3 A G 4: 129,119,810 (GRCm39) probably benign Het
Nlrp4f T C 13: 65,341,905 (GRCm39) Y580C probably damaging Het
Nme8 A C 13: 19,836,492 (GRCm39) L228R probably damaging Het
Numa1 C T 7: 101,658,529 (GRCm39) A1605V probably damaging Het
Ofd1 T C X: 165,210,210 (GRCm39) Y205C probably benign Het
Or2ag12 T A 7: 106,276,877 (GRCm39) N272I probably damaging Het
Or2d3b G A 7: 106,513,453 (GRCm39) G16D probably damaging Het
Or4k77 C T 2: 111,199,421 (GRCm39) S148L probably benign Het
Or8g55 T A 9: 39,785,234 (GRCm39) I221N probably damaging Het
Or8k3 T A 2: 86,058,596 (GRCm39) T240S probably damaging Het
Pclo A G 5: 14,763,487 (GRCm39) T3987A unknown Het
Pdgfrb G A 18: 61,199,566 (GRCm39) probably benign Het
Pdxk G A 10: 78,276,988 (GRCm39) T270I probably damaging Het
Pex5 T C 6: 124,391,364 (GRCm39) E10G probably damaging Het
Pik3c2g T A 6: 139,846,112 (GRCm39) probably null Het
Pkhd1 T A 1: 20,451,747 (GRCm39) I2183F probably damaging Het
Plppr2 T C 9: 21,852,422 (GRCm39) V102A probably damaging Het
Plxnd1 T C 6: 115,939,478 (GRCm39) T1449A probably damaging Het
Pnkd T A 1: 74,325,069 (GRCm39) probably null Het
Pom121l2 A G 13: 22,167,642 (GRCm39) I638V probably damaging Het
Prag1 A G 8: 36,596,314 (GRCm39) probably null Het
Ranbp10 A G 8: 106,513,340 (GRCm39) F191L probably damaging Het
Rapgef1 T C 2: 29,623,723 (GRCm39) L824P probably damaging Het
Rec8 T C 14: 55,861,599 (GRCm39) L418P probably damaging Het
Rimbp2 T A 5: 128,874,305 (GRCm39) N429Y probably damaging Het
Rpe65 C A 3: 159,321,307 (GRCm39) T373K probably benign Het
Rpl35rt T G 1: 156,194,017 (GRCm39) *124G probably null Het
Rrn3 T C 16: 13,606,938 (GRCm39) S151P probably damaging Het
Scn7a A G 2: 66,514,633 (GRCm39) V1047A possibly damaging Het
Scn9a G T 2: 66,345,724 (GRCm39) P1123Q probably damaging Het
Secisbp2l T C 2: 125,589,430 (GRCm39) D706G probably damaging Het
Serpina5 A T 12: 104,070,116 (GRCm39) T338S probably benign Het
Sez6 G A 11: 77,844,894 (GRCm39) probably null Het
Shisa4 C T 1: 135,300,012 (GRCm39) G157D probably damaging Het
Slc1a7 G T 4: 107,825,782 (GRCm39) D14Y probably benign Het
Slc25a11 A C 11: 70,536,999 (GRCm39) L51V probably benign Het
Slit3 A G 11: 35,521,668 (GRCm39) probably null Het
Spata13 G T 14: 60,928,912 (GRCm39) G157W probably damaging Het
Spta1 T C 1: 174,067,933 (GRCm39) V2120A possibly damaging Het
Srpra T C 9: 35,124,834 (GRCm39) probably null Het
Syt6 A G 3: 103,494,736 (GRCm39) I234V probably benign Het
Thada G T 17: 84,617,470 (GRCm39) P1349T probably damaging Het
Tmem161a C T 8: 70,629,559 (GRCm39) R58W probably damaging Het
Top3b A G 16: 16,701,383 (GRCm39) I232V probably damaging Het
Tspan1 T A 4: 116,020,826 (GRCm39) Q197L possibly damaging Het
Ttc28 A C 5: 111,383,501 (GRCm39) Y1334S probably benign Het
Ubxn6 G T 17: 56,380,077 (GRCm39) N28K possibly damaging Het
Uggt1 T C 1: 36,190,862 (GRCm39) D1366G probably damaging Het
Ugp2 A G 11: 21,278,942 (GRCm39) S415P probably damaging Het
Vcan A T 13: 89,837,157 (GRCm39) S2796T probably damaging Het
Vipr2 T C 12: 116,099,826 (GRCm39) V231A probably benign Het
Vmn1r176 T C 7: 23,534,373 (GRCm39) N260S probably benign Het
Vmn1r59 A T 7: 5,457,038 (GRCm39) Y241N probably damaging Het
Vmn2r67 A T 7: 84,801,013 (GRCm39) Y308N probably benign Het
Vmn2r75 A T 7: 85,797,470 (GRCm39) M781K probably damaging Het
Vwa3a A T 7: 120,379,394 (GRCm39) I500F probably damaging Het
Zfp609 A G 9: 65,702,559 (GRCm39) V31A probably damaging Het
Zfp689 G T 7: 127,043,959 (GRCm39) Q224K probably damaging Het
Zfp81 A T 17: 33,554,475 (GRCm39) L113H probably benign 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
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
R9293:Foxo3 UTSW 10 42,073,021 (GRCm39) missense probably damaging 0.99
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'- GGTGCTAGCCTGAGACATCAAG -3'
(R):5'- TGAGCAAGCCGTGTACTGTG -3'

Sequencing Primer
(F):5'- TCCGACTGGGTCATCATGAC -3'
(R):5'- AAGCCGTGTACTGTGGAGCTTC -3'
Posted On 2014-08-25