Incidental Mutation 'R8915:Fto'
ID 678884
Institutional Source Beutler Lab
Gene Symbol Fto
Ensembl Gene ENSMUSG00000055932
Gene Name FTO alpha-ketoglutarate dependent dioxygenase
Synonyms
MMRRC Submission 068703-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8915 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 92040153-92395067 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 92136471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000068380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069718] [ENSMUST00000069718] [ENSMUST00000069718] [ENSMUST00000125471] [ENSMUST00000128081] [ENSMUST00000136802] [ENSMUST00000149913] [ENSMUST00000166548]
AlphaFold Q8BGW1
Predicted Effect probably null
Transcript: ENSMUST00000069718
SMART Domains Protein: ENSMUSP00000068380
Gene: ENSMUSG00000055932

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: ENSMUST00000069718
SMART Domains Protein: ENSMUSP00000068380
Gene: ENSMUSG00000055932

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: ENSMUST00000069718
SMART Domains Protein: ENSMUSP00000068380
Gene: ENSMUSG00000055932

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
Predicted Effect probably benign
Transcript: ENSMUST00000128081
Predicted Effect probably benign
Transcript: ENSMUST00000136802
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
SMART Domains Protein: ENSMUSP00000127680
Gene: ENSMUSG00000055932

DomainStartEndE-ValueType
FTO_NTD 33 245 2.23e-96 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (48/48)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 T A 7: 43,903,751 (GRCm39) H217L possibly damaging Het
Adgrv1 C T 13: 81,715,558 (GRCm39) V877I probably damaging Het
Aste1 G A 9: 105,273,880 (GRCm39) C40Y probably benign Het
Asxl3 T A 18: 22,657,763 (GRCm39) D1924E probably benign Het
Bmp4 T A 14: 46,621,902 (GRCm39) E214V probably damaging Het
Calhm5 T C 10: 33,968,415 (GRCm39) S213G probably benign Het
Carmil1 A G 13: 24,325,709 (GRCm39) L207P probably damaging Het
Cdh24 T C 14: 54,876,612 (GRCm39) D71G probably damaging Het
Cdhr2 G T 13: 54,874,184 (GRCm39) W752L probably benign Het
Clec1b T C 6: 129,382,212 (GRCm39) *230Q probably null Het
Ctbs T C 3: 146,169,724 (GRCm39) V327A probably benign Het
Cyp2c40 A T 19: 39,795,991 (GRCm39) I129N probably benign Het
Dnajc10 T A 2: 80,147,801 (GRCm39) L21H possibly damaging Het
Dysf A G 6: 84,156,736 (GRCm39) D1487G probably benign Het
Epb42 T C 2: 120,849,987 (GRCm39) Q674R possibly damaging Het
Foxb2 T C 19: 16,850,958 (GRCm39) Y16C unknown Het
Gcfc2 A G 6: 81,918,347 (GRCm39) K346E probably benign Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpam A G 19: 55,077,312 (GRCm39) S160P probably benign Het
Has2 C T 15: 56,531,885 (GRCm39) V277I probably damaging Het
Herc1 T C 9: 66,318,456 (GRCm39) Y1243H probably damaging Het
Hhat C T 1: 192,277,203 (GRCm39) E419K probably benign Het
Hsd17b11 T C 5: 104,140,802 (GRCm39) probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Lactbl1 G T 4: 136,360,243 (GRCm39) A141S probably benign Het
Ncoa5 T C 2: 164,854,927 (GRCm39) D65G possibly damaging Het
Nfkbie A G 17: 45,871,067 (GRCm39) I240V probably benign Het
Nim1k T A 13: 120,173,874 (GRCm39) D340V probably benign Het
Oas2 T C 5: 120,876,449 (GRCm39) K498R possibly damaging Het
Or52e2 C T 7: 102,804,411 (GRCm39) C181Y probably damaging Het
Pard6g T C 18: 80,160,957 (GRCm39) S357P probably damaging Het
Pigk G A 3: 152,472,098 (GRCm39) E384K probably benign Het
Ppp4r1 T C 17: 66,136,376 (GRCm39) V528A probably damaging Het
Rbm34 A G 8: 127,679,908 (GRCm39) probably benign Het
Rnd1 A G 15: 98,575,181 (GRCm39) V17A probably damaging Het
Ros1 C T 10: 51,977,805 (GRCm39) probably benign Het
Samd14 A C 11: 94,912,027 (GRCm39) D168A probably damaging Het
Scin T C 12: 40,123,432 (GRCm39) S484G probably damaging Het
Scn11a C T 9: 119,603,363 (GRCm39) W1101* probably null Het
Scrn3 T A 2: 73,148,636 (GRCm39) V69D probably damaging Het
Serpina3j A G 12: 104,281,309 (GRCm39) T161A probably benign Het
Sh3bp4 C A 1: 89,080,064 (GRCm39) A873D probably damaging Het
Tmem131 A T 1: 36,868,658 (GRCm39) I389N probably damaging Het
Tpp2 T C 1: 44,016,415 (GRCm39) L690P probably damaging Het
Trip13 T C 13: 74,081,085 (GRCm39) T94A probably benign Het
Vmn1r114 A T 7: 20,545,171 (GRCm39) L314* probably null Het
Vmn2r44 A G 7: 8,370,650 (GRCm39) Y799H probably damaging Het
Zfp574 T C 7: 24,780,769 (GRCm39) L597P probably damaging Het
Zfp944 A T 17: 22,558,507 (GRCm39) C247S 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
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
R9787:Fto UTSW 8 92,211,886 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTGCGATGATGAAGTGGAC -3'
(R):5'- AGAAGTATTCTGCGCACGATG -3'

Sequencing Primer
(F):5'- CTGCGATGATGAAGTGGACCTTAAG -3'
(R):5'- GAACAATGAGCCAGAGAGGATTTAG -3'
Posted On 2021-08-02