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)
|
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
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 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
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 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
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |