Incidental Mutation 'R0378:Fto'
ID 36472
Institutional Source Beutler Lab
Gene Symbol Fto
Ensembl Gene ENSMUSG00000055932
Gene Name FTO alpha-ketoglutarate dependent dioxygenase
Synonyms
MMRRC Submission 038584-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0378 (G1)
Quality Score 159
Status Validated
Chromosome 8
Chromosomal Location 92040153-92395067 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92200940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 324 (S324P)
Ref Sequence ENSEMBL: ENSMUSP00000147603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069718] [ENSMUST00000128081] [ENSMUST00000136802]
AlphaFold Q8BGW1
Predicted Effect probably damaging
Transcript: ENSMUST00000069718
AA Change: S324P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068380
Gene: ENSMUSG00000055932
AA Change: S324P

DomainStartEndE-ValueType
low complexity region 7 24 N/A INTRINSIC
FTO_NTD 35 323 2.71e-191 SMART
Pfam:FTO_CTD 326 495 1.1e-69 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128081
AA Change: S324P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000136802
AA Change: S324P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211287
Meta Mutation Damage Score 0.2004 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 95% (40/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for an ENU-induced or targeted knock-out allele exhibit decreased body weight, adipose tissue, and body fat and increased metabolism, serum lipids, and serum glucagon that may be gender and diet dependent. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 114,469,749 (GRCm39) R651L probably damaging Het
Amd1 T C 10: 40,165,380 (GRCm39) D317G possibly damaging Het
Artn A G 4: 117,784,815 (GRCm39) probably benign Het
Bub1b T A 2: 118,471,604 (GRCm39) V988E probably benign Het
Cyp2c65 G T 19: 39,061,662 (GRCm39) C216F probably benign Het
Cyp3a11 T C 5: 145,805,417 (GRCm39) E200G probably benign Het
Cyp3a25 T A 5: 145,923,652 (GRCm39) K330N probably damaging Het
Duox2 C A 2: 122,115,064 (GRCm39) V1138L probably benign Het
Erc2 A G 14: 27,733,651 (GRCm39) D567G probably damaging Het
Eri2 A G 7: 119,393,139 (GRCm39) probably null Het
Foxa3 A G 7: 18,757,294 (GRCm39) Y17H probably damaging Het
Get3 A T 8: 85,751,893 (GRCm39) M1K probably null Het
Gls2 T G 10: 128,043,180 (GRCm39) L457R probably benign Het
Gstcd A T 3: 132,692,169 (GRCm39) L582H probably damaging Het
Gtf3c1 G A 7: 125,246,786 (GRCm39) R1508* probably null Het
Kif21a T C 15: 90,853,977 (GRCm39) probably null Het
Klra5 A T 6: 129,883,577 (GRCm39) D93E possibly damaging Het
Lgr5 T C 10: 115,290,404 (GRCm39) D456G probably damaging Het
Mau2 A G 8: 70,483,305 (GRCm39) S186P probably damaging Het
Msr1 T C 8: 40,042,423 (GRCm39) D384G possibly damaging Het
Ncf4 T C 15: 78,137,503 (GRCm39) V93A probably damaging Het
Oas1f T G 5: 120,994,489 (GRCm39) C337G probably damaging Het
Or10al3 A G 17: 38,011,932 (GRCm39) M124V probably damaging Het
Or5p58 A T 7: 107,694,429 (GRCm39) F116Y probably benign Het
Or6c33 T A 10: 129,853,872 (GRCm39) L214H probably damaging Het
Pwwp3a C A 10: 80,074,713 (GRCm39) probably null Het
Rasl10b T C 11: 83,309,519 (GRCm39) S159P probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Smg8 C A 11: 86,971,249 (GRCm39) D841Y probably damaging Het
Sox7 T C 14: 64,181,398 (GRCm39) V65A probably damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Srsf10 A G 4: 135,590,501 (GRCm39) Y142C possibly damaging Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tcerg1l A G 7: 137,878,384 (GRCm39) V326A probably benign Het
Tcl1b5 T A 12: 105,145,326 (GRCm39) W97R probably damaging Het
Tmem108 T C 9: 103,376,856 (GRCm39) R198G possibly damaging Het
Ube2ql1 T A 13: 69,887,017 (GRCm39) Q148L possibly damaging Het
Vmn1r5 A T 6: 56,962,570 (GRCm39) I82L probably benign Het
Wdr6 A T 9: 108,453,063 (GRCm39) S273R probably damaging Het
Ylpm1 C T 12: 85,043,850 (GRCm39) probably benign Het
Zfp90 G A 8: 107,152,138 (GRCm39) R617Q possibly damaging Het
Other mutations in Fto
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01458:Fto APN 8 92,168,344 (GRCm39) missense probably benign 0.29
IGL01541:Fto APN 8 92,136,376 (GRCm39) missense probably damaging 1.00
IGL01636:Fto APN 8 92,135,969 (GRCm39) missense probably damaging 1.00
IGL01788:Fto APN 8 92,136,359 (GRCm39) missense probably benign 0.25
IGL02016:Fto APN 8 92,393,034 (GRCm39) nonsense probably null
IGL02365:Fto APN 8 92,195,003 (GRCm39) missense probably damaging 1.00
IGL02639:Fto APN 8 92,136,156 (GRCm39) missense probably damaging 1.00
IGL02926:Fto APN 8 92,211,795 (GRCm39) missense probably damaging 1.00
IGL03194:Fto APN 8 92,136,415 (GRCm39) missense probably damaging 1.00
R0091:Fto UTSW 8 92,168,435 (GRCm39) critical splice donor site probably null
R0105:Fto UTSW 8 92,249,430 (GRCm39) missense probably damaging 1.00
R0326:Fto UTSW 8 92,136,155 (GRCm39) missense probably damaging 1.00
R0332:Fto UTSW 8 92,128,518 (GRCm39) splice site probably benign
R0601:Fto UTSW 8 92,128,430 (GRCm39) splice site probably null
R1526:Fto UTSW 8 92,168,314 (GRCm39) missense possibly damaging 0.90
R2092:Fto UTSW 8 92,136,315 (GRCm39) nonsense probably null
R4731:Fto UTSW 8 92,136,342 (GRCm39) missense probably damaging 1.00
R4732:Fto UTSW 8 92,136,342 (GRCm39) missense probably damaging 1.00
R4733:Fto UTSW 8 92,136,342 (GRCm39) missense probably damaging 1.00
R5347:Fto UTSW 8 92,118,107 (GRCm39) intron probably benign
R5840:Fto UTSW 8 92,393,068 (GRCm39) utr 3 prime probably benign
R7213:Fto UTSW 8 92,118,135 (GRCm39) missense probably benign 0.00
R7271:Fto UTSW 8 92,211,818 (GRCm39) missense probably damaging 1.00
R7658:Fto UTSW 8 92,392,950 (GRCm39) missense probably benign 0.34
R7763:Fto UTSW 8 92,136,071 (GRCm39) missense probably damaging 0.99
R8110:Fto UTSW 8 92,211,818 (GRCm39) missense probably damaging 1.00
R8700:Fto UTSW 8 92,249,461 (GRCm39) missense probably damaging 0.96
R8915:Fto UTSW 8 92,136,471 (GRCm39) critical splice donor site probably null
R9787:Fto UTSW 8 92,211,886 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATATAGTGTAGACAGCCAGCAGCC -3'
(R):5'- CTGCAAGCAGGGATGAGTCTCAATC -3'

Sequencing Primer
(F):5'- CAGCCTGTATGACTGCTGAG -3'
(R):5'- CAGGGATGAGTCTCAATCTACGC -3'
Posted On 2013-05-09