Incidental Mutation 'IGL01788:Fto'
| ID |
155137 |
| 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)
|
| Stock # |
IGL01788
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
92040153-92395067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92136359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q8BGW1 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230009I02Rik |
T |
G |
11: 50,982,542 (GRCm39) |
|
noncoding transcript |
Het |
| Acp6 |
A |
G |
3: 97,073,198 (GRCm39) |
T80A |
probably damaging |
Het |
| Adamtsl5 |
T |
C |
10: 80,180,757 (GRCm39) |
T102A |
probably benign |
Het |
| Adcy6 |
C |
A |
15: 98,494,400 (GRCm39) |
E812* |
probably null |
Het |
| Apol6 |
G |
A |
15: 76,935,216 (GRCm39) |
V162I |
possibly damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,220,206 (GRCm39) |
M396K |
possibly damaging |
Het |
| B3gnt8 |
A |
G |
7: 25,328,613 (GRCm39) |
T348A |
probably damaging |
Het |
| Cgnl1 |
A |
G |
9: 71,562,672 (GRCm39) |
V869A |
probably benign |
Het |
| Dcaf5 |
A |
T |
12: 80,395,098 (GRCm39) |
I357N |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,749,903 (GRCm39) |
I165V |
probably benign |
Het |
| Dlgap2 |
T |
A |
8: 14,893,631 (GRCm39) |
I982K |
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,413,772 (GRCm39) |
H1891L |
probably benign |
Het |
| Fhad1 |
A |
C |
4: 141,660,113 (GRCm39) |
S65R |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,652,996 (GRCm39) |
I1331T |
probably damaging |
Het |
| Gm3278 |
A |
C |
14: 16,080,370 (GRCm39) |
R60S |
probably benign |
Het |
| Ifna9 |
A |
G |
4: 88,510,097 (GRCm39) |
S176P |
probably damaging |
Het |
| Klk1 |
T |
C |
7: 43,878,407 (GRCm39) |
I189T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,682,419 (GRCm39) |
G519R |
probably damaging |
Het |
| Mcph1 |
G |
A |
8: 18,682,420 (GRCm39) |
G519E |
probably damaging |
Het |
| N4bp1 |
A |
T |
8: 87,587,624 (GRCm39) |
V438E |
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,828,423 (GRCm39) |
V58E |
probably damaging |
Het |
| Nid2 |
T |
A |
14: 19,858,047 (GRCm39) |
S1054T |
probably damaging |
Het |
| Nlrp4a |
A |
T |
7: 26,153,492 (GRCm39) |
Y681F |
probably benign |
Het |
| Or4f57 |
T |
C |
2: 111,791,352 (GRCm39) |
D22G |
probably benign |
Het |
| Or4k15c |
A |
G |
14: 50,321,959 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or52e19b |
C |
A |
7: 103,032,770 (GRCm39) |
M146I |
probably benign |
Het |
| Or5b94 |
G |
A |
19: 12,652,442 (GRCm39) |
R291K |
probably damaging |
Het |
| Papln |
A |
T |
12: 83,822,236 (GRCm39) |
T364S |
probably benign |
Het |
| Pcdh18 |
C |
A |
3: 49,710,371 (GRCm39) |
E315* |
probably null |
Het |
| Pmel |
G |
A |
10: 128,553,701 (GRCm39) |
R445Q |
probably damaging |
Het |
| Ppp1r12b |
C |
T |
1: 134,821,245 (GRCm39) |
V182I |
possibly damaging |
Het |
| Ptprn2 |
A |
G |
12: 116,864,607 (GRCm39) |
T541A |
probably damaging |
Het |
| Rbl1 |
A |
T |
2: 157,005,576 (GRCm39) |
N813K |
probably benign |
Het |
| Sash1 |
C |
A |
10: 8,609,410 (GRCm39) |
R713L |
probably benign |
Het |
| Slc13a1 |
T |
G |
6: 24,134,371 (GRCm39) |
T171P |
probably damaging |
Het |
| Slc18b1 |
G |
T |
10: 23,701,899 (GRCm39) |
E407D |
probably damaging |
Het |
| Slc2a6 |
G |
A |
2: 26,914,227 (GRCm39) |
Q297* |
probably null |
Het |
| Vmn1r209 |
T |
C |
13: 22,989,832 (GRCm39) |
H286R |
probably damaging |
Het |
| Vmn1r28 |
C |
A |
6: 58,242,522 (GRCm39) |
H122N |
probably benign |
Het |
| Wfs1 |
A |
G |
5: 37,125,980 (GRCm39) |
Y304H |
probably benign |
Het |
| Zfp512b |
A |
G |
2: 181,230,556 (GRCm39) |
S445P |
possibly damaging |
Het |
|
| Other mutations in Fto |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation