Incidental Mutation 'IGL01541:Fto'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fto
Ensembl Gene ENSMUSG00000055932
Gene Namefat mass and obesity associated
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01541
Quality Score
Chromosomal Location91313525-91668439 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 91409748 bp
Amino Acid Change Tyrosine to Histidine at position 217 (Y217H)
Ref Sequence ENSEMBL: ENSMUSP00000147603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069718] [ENSMUST00000125471] [ENSMUST00000128081] [ENSMUST00000136802] [ENSMUST00000149913] [ENSMUST00000166548]
Predicted Effect probably damaging
Transcript: ENSMUST00000069718
AA Change: Y217H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068380
Gene: ENSMUSG00000055932
AA Change: Y217H

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: ENSMUST00000125471
AA Change: Y217H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000128081
AA Change: Y217H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000136802
AA Change: Y217H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000149913
SMART Domains Protein: ENSMUSP00000123142
Gene: ENSMUSG00000055932

low complexity region 37 48 N/A INTRINSIC
Pfam:FTO_NTD 63 150 3.3e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166548
AA Change: Y215H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127680
Gene: ENSMUSG00000055932
AA Change: Y215H

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,911,434 H668Y probably benign Het
Adamts10 A G 17: 33,543,231 S505G probably benign Het
Ahnak C T 19: 9,007,879 H2176Y possibly damaging Het
Ash1l G T 3: 89,066,265 D2544Y probably damaging Het
Ccdc88a T A 11: 29,400,283 F88L probably benign Het
Cdc42bpa A T 1: 180,151,158 probably null Het
Celsr3 T C 9: 108,831,708 V1251A probably damaging Het
CN725425 T A 15: 91,245,752 F273I possibly damaging Het
Eif2b1 A G 5: 124,576,902 C104R probably damaging Het
Ercc3 A T 18: 32,248,319 D396V possibly damaging Het
Fam71a A T 1: 191,164,409 Y12* probably null Het
Fga A T 3: 83,032,707 D556V probably damaging Het
Frg1 C T 8: 41,410,325 probably benign Het
Grin3a A T 4: 49,792,533 V400E probably damaging Het
Gtse1 T A 15: 85,875,654 L682* probably null Het
Igkv6-32 A G 6: 70,074,306 I22T probably benign Het
Lama1 G A 17: 67,785,070 R1646H probably benign Het
Lamp1 T C 8: 13,165,905 C35R probably damaging Het
Lzts3 A T 2: 130,636,206 L324Q probably damaging Het
Muc6 T A 7: 141,649,804 R453* probably null Het
Naa35 T A 13: 59,600,963 H132Q probably damaging Het
Pgm5 C A 19: 24,816,413 G296W probably damaging Het
Pkd1 T A 17: 24,586,298 C3275S probably damaging Het
Podxl2 A G 6: 88,849,349 L325P probably benign Het
Prom2 A G 2: 127,529,130 probably null Het
Rab12 T C 17: 66,497,409 S185G probably damaging Het
Rnf43 T G 11: 87,730,220 M313R probably null Het
Rusc2 T C 4: 43,415,840 V382A probably benign Het
Sbno1 A T 5: 124,378,555 probably benign Het
Smg6 T C 11: 74,925,944 I10T probably benign Het
Smpd1 T C 7: 105,555,826 F304S possibly damaging Het
Spta1 G A 1: 174,217,159 V1454I probably benign Het
Tdrd7 A T 4: 46,018,551 I722F possibly damaging Het
Topors T C 4: 40,262,364 T307A possibly damaging Het
Ttn C T 2: 76,977,158 R77Q probably damaging Het
Vmn1r210 C T 13: 22,827,608 M169I probably benign Het
Zc3h4 A G 7: 16,434,332 S789G unknown Het
Zfp629 G T 7: 127,612,745 probably benign Het
Zfp977 C A 7: 42,580,732 R123I probably benign Het
Other mutations in Fto
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01458:Fto APN 8 91441716 missense probably benign 0.29
IGL01636:Fto APN 8 91409341 missense probably damaging 1.00
IGL01788:Fto APN 8 91409731 missense probably benign 0.25
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
R7213:Fto UTSW 8 91391507 missense probably benign 0.00
R7271:Fto UTSW 8 91485190 missense probably damaging 1.00
R7658:Fto UTSW 8 91666322 missense probably benign 0.34
R7763:Fto UTSW 8 91409443 missense probably damaging 0.99
R8110:Fto UTSW 8 91485190 missense probably damaging 1.00
Posted On2013-12-03