Incidental Mutation 'R2092:Fto'
ID 231848
Institutional Source Beutler Lab
Gene Symbol Fto
Ensembl Gene ENSMUSG00000055932
Gene Name FTO alpha-ketoglutarate dependent dioxygenase
Synonyms
MMRRC Submission 040097-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2092 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 92040153-92395067 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 92136315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 194 (Y194*)
Ref Sequence ENSEMBL: ENSMUSP00000127680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069718] [ENSMUST00000125471] [ENSMUST00000128081] [ENSMUST00000136802] [ENSMUST00000149913] [ENSMUST00000166548]
AlphaFold Q8BGW1
Predicted Effect probably null
Transcript: ENSMUST00000069718
AA Change: Y196*
SMART Domains Protein: ENSMUSP00000068380
Gene: ENSMUSG00000055932
AA Change: Y196*

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 null
Transcript: ENSMUST00000125471
AA Change: Y196*
Predicted Effect probably null
Transcript: ENSMUST00000128081
AA Change: Y196*
Predicted Effect probably null
Transcript: ENSMUST00000136802
AA Change: Y196*
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 null
Transcript: ENSMUST00000166548
AA Change: Y194*
SMART Domains Protein: ENSMUSP00000127680
Gene: ENSMUSG00000055932
AA Change: Y194*

DomainStartEndE-ValueType
FTO_NTD 33 245 2.23e-96 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,651,896 (GRCm39) C1321* probably null Het
Abca8b A G 11: 109,857,534 (GRCm39) F673L possibly damaging Het
Adam19 T G 11: 45,951,731 (GRCm39) probably null Het
AI987944 T C 7: 41,024,041 (GRCm39) T313A possibly damaging Het
Akap13 A T 7: 75,260,318 (GRCm39) I178F probably benign Het
Alb G GA 5: 90,611,842 (GRCm39) probably null Het
Bod1l A G 5: 41,988,860 (GRCm39) S416P probably damaging Het
Casr A T 16: 36,330,405 (GRCm39) Y310N possibly damaging Het
Cela3a T C 4: 137,131,737 (GRCm39) N152S probably benign Het
Chrdl2 T A 7: 99,670,184 (GRCm39) C102* probably null Het
Col4a4 G A 1: 82,476,667 (GRCm39) S554L unknown Het
Col6a4 T C 9: 105,937,530 (GRCm39) K1392R probably damaging Het
Dab1 T G 4: 104,535,974 (GRCm39) Y128D probably damaging Het
Dars1 A T 1: 128,301,755 (GRCm39) M293K probably damaging Het
Dlec1 T C 9: 118,950,912 (GRCm39) F493L possibly damaging Het
Dmbt1 G T 7: 130,651,748 (GRCm39) W330L probably damaging Het
Dnah11 A T 12: 117,976,451 (GRCm39) M831K possibly damaging Het
Dock7 T C 4: 98,897,545 (GRCm39) N715S possibly damaging Het
Edc4 T A 8: 106,614,160 (GRCm39) L12Q probably damaging Het
Edem2 T C 2: 155,550,969 (GRCm39) M333V probably benign Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Gnptab T G 10: 88,276,167 (GRCm39) Y1151* probably null Het
Grm1 A G 10: 10,564,969 (GRCm39) L1113P probably benign Het
Hnrnpa0 T C 13: 58,275,614 (GRCm39) K172E probably damaging Het
Ifitm1 A G 7: 140,549,427 (GRCm39) D70G probably damaging Het
Irx4 C A 13: 73,413,605 (GRCm39) T25K probably damaging Het
Kif22 C T 7: 126,632,802 (GRCm39) D195N probably damaging Het
Lrp2 C T 2: 69,366,365 (GRCm39) D245N probably benign Het
Lyz1 C T 10: 117,124,504 (GRCm39) R144Q probably benign Het
Macf1 T A 4: 123,276,971 (GRCm39) T6055S probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Myh9 G A 15: 77,648,550 (GRCm39) Q80* probably null Het
Myo6 G T 9: 80,152,964 (GRCm39) R199L probably damaging Het
Naglu G A 11: 100,967,546 (GRCm39) V499I possibly damaging Het
Nfkbie T C 17: 45,869,465 (GRCm39) F140S probably benign Het
Or4p8 A G 2: 88,727,611 (GRCm39) F110S probably damaging Het
Or52ab7 G A 7: 102,978,316 (GRCm39) V208M probably damaging Het
Or52z1 A T 7: 103,437,279 (GRCm39) F68L possibly damaging Het
Or5b102 T A 19: 13,041,166 (GRCm39) Y130* probably null Het
Or5p81 CAAATA CA 7: 108,266,869 (GRCm39) probably null Het
Or8g21 A T 9: 38,906,485 (GRCm39) L82Q probably damaging Het
Otop1 A T 5: 38,457,110 (GRCm39) I290F probably damaging Het
P2rx2 C T 5: 110,489,007 (GRCm39) D203N probably damaging Het
Pcdhb10 T A 18: 37,547,240 (GRCm39) I772N probably benign Het
Pnliprp1 A G 19: 58,729,616 (GRCm39) H423R probably benign Het
Ptk2 A T 15: 73,108,040 (GRCm39) Y56* probably null Het
Rapgef3 T C 15: 97,658,604 (GRCm39) D134G probably damaging Het
Scaf11 A C 15: 96,313,708 (GRCm39) S1358A probably damaging Het
Scn9a T C 2: 66,363,720 (GRCm39) M844V probably damaging Het
Sh3tc1 T C 5: 35,858,002 (GRCm39) E1121G probably damaging Het
Slc25a15 T C 8: 22,870,950 (GRCm39) T176A probably damaging Het
Slc29a4 T A 5: 142,704,610 (GRCm39) I384N probably damaging Het
Slc40a1 A T 1: 45,948,614 (GRCm39) D555E probably benign Het
Smc5 T C 19: 23,216,263 (GRCm39) I446V probably benign Het
St6gal2 T C 17: 55,817,267 (GRCm39) Y477H probably damaging Het
Syngr1 A T 15: 80,000,141 (GRCm39) Q84L possibly damaging Het
Tedc1 T C 12: 113,121,340 (GRCm39) L187P probably damaging Het
Tg A G 15: 66,721,456 (GRCm39) I322V probably null Het
Thap12 T C 7: 98,365,656 (GRCm39) V608A possibly damaging Het
Tmbim6 T C 15: 99,299,949 (GRCm39) S22P probably damaging Het
Ttc3 C T 16: 94,243,691 (GRCm39) P1232S probably benign Het
Upk3a A G 15: 84,902,286 (GRCm39) T38A probably damaging Het
Utrn A T 10: 12,554,442 (GRCm39) M1549K probably benign Het
Vmn1r176 C T 7: 23,534,578 (GRCm39) D192N probably damaging Het
Vmn1r198 A G 13: 22,538,885 (GRCm39) T35A possibly damaging Het
Xkr7 C T 2: 152,895,983 (GRCm39) S279L probably damaging Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp641 G T 15: 98,191,593 (GRCm39) T31N probably benign Het
Zfp74 G A 7: 29,653,349 (GRCm39) probably benign 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
R0378:Fto UTSW 8 92,200,940 (GRCm39) missense probably damaging 1.00
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
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'- GTACACAGAGGCTGAGATCG -3'
(R):5'- CTGCCATCGAGCATGCTTTC -3'

Sequencing Primer
(F):5'- GCTGCATGTCAGACCTTCCTAAAG -3'
(R):5'- AGCATGCTTTCCCCCAGAG -3'
Posted On 2014-09-18