Incidental Mutation 'IGL03194:Fto'
ID 412740
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fto
Ensembl Gene ENSMUSG00000055932
Gene Name FTO alpha-ketoglutarate dependent dioxygenase
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03194
Quality Score
Status
Chromosome 8
Chromosomal Location 92040153-92395067 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 92136415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 228 (D228N)
Ref Sequence ENSEMBL: ENSMUSP00000127680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069718] [ENSMUST00000125471] [ENSMUST00000128081] [ENSMUST00000136802] [ENSMUST00000149913] [ENSMUST00000166548]
AlphaFold Q8BGW1
Predicted Effect probably damaging
Transcript: ENSMUST00000069718
AA Change: D230N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068380
Gene: ENSMUSG00000055932
AA Change: D230N

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: ENSMUST00000125471
AA Change: D230N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000128081
AA Change: D230N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000136802
AA Change: D230N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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 damaging
Transcript: ENSMUST00000166548
AA Change: D228N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127680
Gene: ENSMUSG00000055932
AA Change: D228N

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T C 8: 84,460,647 (GRCm39) S64G possibly damaging Het
Clcn7 T C 17: 25,369,522 (GRCm39) V306A probably damaging Het
Clec4b2 G A 6: 123,177,946 (GRCm39) G87D probably benign Het
Disp2 A T 2: 118,618,110 (GRCm39) R219W probably damaging Het
Dnaaf11 A T 15: 66,314,048 (GRCm39) D317E probably benign Het
Dstyk A T 1: 132,384,054 (GRCm39) probably benign Het
F830045P16Rik T C 2: 129,302,240 (GRCm39) S451G possibly damaging Het
Fat2 T A 11: 55,201,821 (GRCm39) T418S probably benign Het
Gins4 A T 8: 23,724,762 (GRCm39) probably benign Het
Gm10220 T A 5: 26,326,231 (GRCm39) R40W probably damaging Het
Gm11149 G A 9: 49,457,646 (GRCm39) probably benign Het
Gm5431 T G 11: 48,786,364 (GRCm39) probably benign Het
Hebp1 A G 6: 135,132,190 (GRCm39) M59T probably benign Het
Lrp1 A T 10: 127,404,554 (GRCm39) V1989D probably damaging Het
Ltc4s T C 11: 50,127,398 (GRCm39) *151W probably null Het
Map3k21 A G 8: 126,650,801 (GRCm39) T268A possibly damaging Het
Mdp1 A G 14: 55,896,444 (GRCm39) L164P probably damaging Het
Mroh4 T C 15: 74,483,388 (GRCm39) T650A probably damaging Het
Mss51 T C 14: 20,535,165 (GRCm39) N202D probably benign Het
Mtus2 G A 5: 148,043,913 (GRCm39) A834T probably damaging Het
Nalf1 T C 8: 9,282,975 (GRCm39) D358G probably damaging Het
Ncoa6 A G 2: 155,257,788 (GRCm39) M585T possibly damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Npvf A C 6: 50,627,878 (GRCm39) D180E possibly damaging Het
Nup188 A T 2: 30,194,346 (GRCm39) Y173F possibly damaging Het
Oas3 C A 5: 120,897,018 (GRCm39) A868S probably damaging Het
Pkhd1l1 A G 15: 44,381,531 (GRCm39) T1086A probably damaging Het
Pla2g6 G A 15: 79,201,985 (GRCm39) P62L probably damaging Het
Rara T C 11: 98,862,490 (GRCm39) M297T possibly damaging Het
Tmc1 T C 19: 20,782,017 (GRCm39) E567G probably damaging Het
Tnxb C T 17: 34,914,921 (GRCm39) Q1970* probably null Het
Usp11 T C X: 20,578,656 (GRCm39) I162T probably benign Het
Utrn A G 10: 12,282,173 (GRCm39) probably benign Het
Zfhx3 A G 8: 109,521,359 (GRCm39) E827G probably 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
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
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
Posted On 2016-08-02