Incidental Mutation 'IGL01636:Fto'
| ID |
93006 |
| 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 # |
IGL01636
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
92040153-92395067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92135969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 79
(D79G)
|
| 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: D81G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068380
Gene: ENSMUSG00000055932
AA Change: D81G
| 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: D81G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128081
AA Change: D81G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136802
AA Change: D81G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149913
AA Change: D109G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123142
Gene: ENSMUSG00000055932
AA Change: D109G
| 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: D79G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127680
Gene: ENSMUSG00000055932
AA Change: D79G
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
T |
C |
12: 81,466,723 (GRCm39) |
T633A |
possibly damaging |
Het |
| Adgrd1 |
G |
T |
5: 129,219,516 (GRCm39) |
|
probably benign |
Het |
| Bmp7 |
T |
C |
2: 172,717,001 (GRCm39) |
|
probably benign |
Het |
| Ccdc54 |
A |
G |
16: 50,410,277 (GRCm39) |
*330Q |
probably null |
Het |
| Chd5 |
A |
T |
4: 152,469,110 (GRCm39) |
K1812* |
probably null |
Het |
| Cnga3 |
T |
A |
1: 37,299,874 (GRCm39) |
I236N |
possibly damaging |
Het |
| Ddost |
T |
G |
4: 138,036,707 (GRCm39) |
D135E |
possibly damaging |
Het |
| Dicer1 |
T |
C |
12: 104,688,500 (GRCm39) |
D359G |
probably damaging |
Het |
| Dnah17 |
A |
C |
11: 117,931,882 (GRCm39) |
S3697A |
probably benign |
Het |
| Dnttip2 |
G |
A |
3: 122,076,123 (GRCm39) |
G685D |
possibly damaging |
Het |
| Dst |
T |
G |
1: 34,254,650 (GRCm39) |
S4552R |
probably damaging |
Het |
| Ebf2 |
G |
A |
14: 67,476,927 (GRCm39) |
E157K |
probably damaging |
Het |
| Ehbp1 |
C |
T |
11: 22,039,584 (GRCm39) |
V839M |
probably benign |
Het |
| Ehmt1 |
G |
T |
2: 24,729,620 (GRCm39) |
T639K |
probably damaging |
Het |
| Esyt2 |
T |
C |
12: 116,329,550 (GRCm39) |
|
probably null |
Het |
| Etv6 |
T |
C |
6: 134,225,350 (GRCm39) |
S194P |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,741,637 (GRCm39) |
H198R |
probably benign |
Het |
| Fam210b |
T |
C |
2: 172,193,460 (GRCm39) |
F91S |
probably damaging |
Het |
| Fam81a |
G |
A |
9: 70,006,434 (GRCm39) |
Q193* |
probably null |
Het |
| Haspin |
C |
T |
11: 73,028,231 (GRCm39) |
R286H |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,455,984 (GRCm39) |
C5312Y |
probably damaging |
Het |
| Ik |
T |
A |
18: 36,884,254 (GRCm39) |
D245E |
possibly damaging |
Het |
| Itga1 |
A |
G |
13: 115,143,484 (GRCm39) |
V349A |
possibly damaging |
Het |
| Kdm8 |
T |
C |
7: 125,060,377 (GRCm39) |
V400A |
probably damaging |
Het |
| Larp1b |
G |
T |
3: 40,924,913 (GRCm39) |
R177L |
probably benign |
Het |
| Lifr |
T |
G |
15: 7,208,499 (GRCm39) |
|
probably benign |
Het |
| Lrrn2 |
T |
C |
1: 132,864,959 (GRCm39) |
L8P |
possibly damaging |
Het |
| Marcksl1 |
T |
A |
4: 129,408,587 (GRCm39) |
D55E |
probably benign |
Het |
| Med12 |
C |
A |
X: 100,318,795 (GRCm39) |
S74R |
probably damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,564,838 (GRCm39) |
K231E |
probably benign |
Het |
| Or52s1 |
C |
A |
7: 102,861,384 (GRCm39) |
R95S |
probably benign |
Het |
| Or6c35 |
A |
T |
10: 129,168,752 (GRCm39) |
M1L |
probably damaging |
Het |
| Or7e170 |
A |
G |
9: 19,795,484 (GRCm39) |
V39A |
probably benign |
Het |
| Or8k39 |
G |
A |
2: 86,563,945 (GRCm39) |
Q4* |
probably null |
Het |
| Orc3 |
A |
C |
4: 34,595,096 (GRCm39) |
L233R |
probably damaging |
Het |
| Pik3cd |
A |
G |
4: 149,738,772 (GRCm39) |
M715T |
possibly damaging |
Het |
| Prss43 |
T |
A |
9: 110,656,505 (GRCm39) |
L64Q |
possibly damaging |
Het |
| Pyroxd2 |
C |
A |
19: 42,726,771 (GRCm39) |
G209V |
probably benign |
Het |
| Rab3b |
A |
G |
4: 108,797,916 (GRCm39) |
D198G |
possibly damaging |
Het |
| Rrbp1 |
A |
T |
2: 143,789,815 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
T |
C |
11: 74,825,929 (GRCm39) |
|
probably null |
Het |
| Ssrp1 |
T |
C |
2: 84,871,443 (GRCm39) |
|
probably benign |
Het |
| Strip2 |
C |
A |
6: 29,931,192 (GRCm39) |
T381K |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,116,622 (GRCm39) |
L876Q |
possibly damaging |
Het |
| Tle4 |
T |
C |
19: 14,429,897 (GRCm39) |
I625V |
probably damaging |
Het |
| Tnfrsf23 |
T |
C |
7: 143,233,736 (GRCm39) |
T81A |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,612,542 (GRCm39) |
K1272E |
probably benign |
Het |
| Usp3 |
A |
G |
9: 66,469,834 (GRCm39) |
|
probably null |
Het |
| Vmn1r121 |
C |
T |
7: 20,832,282 (GRCm39) |
V53M |
probably benign |
Het |
| Vmn1r65 |
A |
T |
7: 6,011,720 (GRCm39) |
S171R |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,657 (GRCm39) |
D441E |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,801,618 (GRCm39) |
H2353Q |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,435,794 (GRCm39) |
S1835P |
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 |
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation