Incidental Mutation 'IGL01788:Fto'
ID155137
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fto
Ensembl Gene ENSMUSG00000055932
Gene Namefat mass and obesity associated
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01788
Quality Score
Status
Chromosome8
Chromosomal Location91313525-91668439 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 91409731 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 211 (Y211F)
Ref Sequence ENSEMBL: ENSMUSP00000147548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069718] [ENSMUST00000125471] [ENSMUST00000128081] [ENSMUST00000136802] [ENSMUST00000149913] [ENSMUST00000166548]
Predicted Effect probably benign
Transcript: ENSMUST00000069718
AA Change: Y211F

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000068380
Gene: ENSMUSG00000055932
AA Change: Y211F

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 benign
Transcript: ENSMUST00000125471
AA Change: Y211F

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000128081
AA Change: Y211F

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000136802
AA Change: Y211F

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000149913
SMART Domains Protein: ENSMUSP00000123142
Gene: ENSMUSG00000055932

DomainStartEndE-ValueType
low complexity region 37 48 N/A INTRINSIC
Pfam:FTO_NTD 63 150 3.3e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166548
AA Change: Y209F

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000127680
Gene: ENSMUSG00000055932
AA Change: Y209F

DomainStartEndE-ValueType
FTO_NTD 33 245 2.23e-96 SMART
Coding Region Coverage
Validation Efficiency
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
9230009I02Rik T G 11: 51,091,715 noncoding transcript Het
Acp6 A G 3: 97,165,882 T80A probably damaging Het
Adamtsl5 T C 10: 80,344,923 T102A probably benign Het
Adcy6 C A 15: 98,596,519 E812* probably null Het
Apol6 G A 15: 77,051,016 V162I possibly damaging Het
Atp6v1h T A 1: 5,149,983 M396K possibly damaging Het
B3gnt8 A G 7: 25,629,188 T348A probably damaging Het
Cgnl1 A G 9: 71,655,390 V869A probably benign Het
Dcaf5 A T 12: 80,348,324 I357N probably damaging Het
Dennd4a A G 9: 64,842,621 I165V probably benign Het
Dlgap2 T A 8: 14,843,631 I982K probably benign Het
Dopey1 A T 9: 86,531,719 H1891L probably benign Het
Fhad1 A C 4: 141,932,802 S65R probably benign Het
Fn1 A G 1: 71,613,837 I1331T probably damaging Het
Gm3278 A C 14: 4,893,332 R60S probably benign Het
Ifna9 A G 4: 88,591,860 S176P probably damaging Het
Klk1 T C 7: 44,228,983 I189T probably benign Het
Mcph1 G A 8: 18,632,403 G519R probably damaging Het
Mcph1 G A 8: 18,632,404 G519E probably damaging Het
N4bp1 A T 8: 86,860,996 V438E probably benign Het
Ncapg T A 5: 45,671,081 V58E probably damaging Het
Nid2 T A 14: 19,807,979 S1054T probably damaging Het
Nlrp4a A T 7: 26,454,067 Y681F probably benign Het
Olfr1308 T C 2: 111,961,007 D22G probably benign Het
Olfr1442 G A 19: 12,675,078 R291K probably damaging Het
Olfr603 C A 7: 103,383,563 M146I probably benign Het
Olfr726 A G 14: 50,084,502 Y60H probably damaging Het
Papln A T 12: 83,775,462 T364S probably benign Het
Pcdh18 C A 3: 49,755,922 E315* probably null Het
Pmel G A 10: 128,717,832 R445Q probably damaging Het
Ppp1r12b C T 1: 134,893,507 V182I possibly damaging Het
Ptprn2 A G 12: 116,900,987 T541A probably damaging Het
Rbl1 A T 2: 157,163,656 N813K probably benign Het
Sash1 C A 10: 8,733,646 R713L probably benign Het
Slc13a1 T G 6: 24,134,372 T171P probably damaging Het
Slc18b1 G T 10: 23,826,001 E407D probably damaging Het
Slc2a6 G A 2: 27,024,215 Q297* probably null Het
Vmn1r209 T C 13: 22,805,662 H286R probably damaging Het
Vmn1r28 C A 6: 58,265,537 H122N probably benign Het
Wfs1 A G 5: 36,968,636 Y304H probably benign Het
Zfp512b A G 2: 181,588,763 S445P possibly damaging Het
Other mutations in Fto
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01458:Fto APN 8 91441716 missense probably benign 0.29
IGL01541:Fto APN 8 91409748 missense probably damaging 1.00
IGL01636:Fto APN 8 91409341 missense probably damaging 1.00
IGL02016:Fto APN 8 91666406 nonsense probably null
IGL02365:Fto APN 8 91468375 missense probably damaging 1.00
IGL02639:Fto APN 8 91409528 missense probably damaging 1.00
IGL02926:Fto APN 8 91485167 missense probably damaging 1.00
IGL03194:Fto APN 8 91409787 missense probably damaging 1.00
R0091:Fto UTSW 8 91441807 critical splice donor site probably null
R0105:Fto UTSW 8 91522802 missense probably damaging 1.00
R0326:Fto UTSW 8 91409527 missense probably damaging 1.00
R0332:Fto UTSW 8 91401890 splice site probably benign
R0378:Fto UTSW 8 91474312 missense probably damaging 1.00
R0601:Fto UTSW 8 91401802 splice site probably null
R1526:Fto UTSW 8 91441686 missense possibly damaging 0.90
R2092:Fto UTSW 8 91409687 nonsense probably null
R4731:Fto UTSW 8 91409714 missense probably damaging 1.00
R4732:Fto UTSW 8 91409714 missense probably damaging 1.00
R4733:Fto UTSW 8 91409714 missense probably damaging 1.00
R5347:Fto UTSW 8 91391479 intron probably benign
R5840:Fto UTSW 8 91666440 utr 3 prime probably benign
Posted On2014-02-04