Incidental Mutation 'IGL01458:Fto'
| ID |
84882 |
| 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 # |
IGL01458
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
92040153-92395067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92168344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 266
(T266A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069718]
[ENSMUST00000125471]
[ENSMUST00000128081]
[ENSMUST00000136802]
[ENSMUST00000166548]
|
| AlphaFold |
Q8BGW1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069718
AA Change: T266A
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000068380
Gene: ENSMUSG00000055932
AA Change: T266A
| 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: T266A
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128081
AA Change: T266A
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136802
AA Change: T266A
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166548
|
| SMART Domains |
Protein: ENSMUSP00000127680
Gene: ENSMUSG00000055932
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433N12Rik |
A |
T |
9: 3,134,008 (GRCm39) |
|
noncoding transcript |
Het |
| Akap12 |
A |
G |
10: 4,304,060 (GRCm39) |
E290G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 52,933,601 (GRCm39) |
C364* |
probably null |
Het |
| Akr1c18 |
A |
T |
13: 4,187,143 (GRCm39) |
Y198N |
probably damaging |
Het |
| Aurka |
T |
C |
2: 172,210,899 (GRCm39) |
|
probably benign |
Het |
| Bloc1s6 |
T |
A |
2: 122,586,135 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Csn2 |
T |
C |
5: 87,843,879 (GRCm39) |
|
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,232,195 (GRCm39) |
E271G |
probably damaging |
Het |
| Eif1ad4 |
A |
T |
12: 87,862,158 (GRCm39) |
K7* |
probably null |
Het |
| Evi5 |
G |
A |
5: 107,963,513 (GRCm39) |
A354V |
probably damaging |
Het |
| Fcer2a |
T |
A |
8: 3,738,151 (GRCm39) |
R137S |
probably benign |
Het |
| Fzd4 |
G |
A |
7: 89,053,943 (GRCm39) |
V17I |
unknown |
Het |
| Gadd45b |
T |
C |
10: 80,767,075 (GRCm39) |
L105P |
probably damaging |
Het |
| Galntl6 |
T |
C |
8: 58,880,743 (GRCm39) |
S137G |
probably damaging |
Het |
| Gpr135 |
T |
C |
12: 72,116,442 (GRCm39) |
M442V |
probably benign |
Het |
| Kcnq1 |
T |
A |
7: 142,748,015 (GRCm39) |
Y330* |
probably null |
Het |
| Kdm5b |
A |
G |
1: 134,549,724 (GRCm39) |
R1106G |
possibly damaging |
Het |
| Lrrc8e |
C |
T |
8: 4,286,141 (GRCm39) |
R789W |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,485,853 (GRCm39) |
L644P |
probably damaging |
Het |
| Nbeal1 |
G |
T |
1: 60,281,784 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Or10ag56 |
C |
T |
2: 87,139,826 (GRCm39) |
T251I |
probably damaging |
Het |
| Or1e29 |
A |
T |
11: 73,667,532 (GRCm39) |
I207N |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,882,307 (GRCm39) |
N70D |
probably benign |
Het |
| Panx3 |
A |
T |
9: 37,572,443 (GRCm39) |
M369K |
probably damaging |
Het |
| Plet1 |
A |
G |
9: 50,406,017 (GRCm39) |
N52S |
probably benign |
Het |
| Prss1l |
T |
G |
6: 41,373,621 (GRCm39) |
D161E |
probably benign |
Het |
| Psg18 |
A |
T |
7: 18,088,741 (GRCm39) |
M1K |
probably null |
Het |
| Ptprz1 |
A |
T |
6: 22,972,843 (GRCm39) |
D251V |
probably damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,114,064 (GRCm39) |
Y88H |
possibly damaging |
Het |
| Siglecf |
G |
A |
7: 43,004,562 (GRCm39) |
R297Q |
possibly damaging |
Het |
| Tbx15 |
T |
C |
3: 99,223,544 (GRCm39) |
V244A |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
| Trim39 |
A |
G |
17: 36,574,855 (GRCm39) |
|
probably benign |
Het |
| Vps37c |
T |
C |
19: 10,687,781 (GRCm39) |
C81R |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 29,941,187 (GRCm39) |
S744T |
probably benign |
Het |
| Zyg11a |
G |
A |
4: 108,062,099 (GRCm39) |
T234I |
probably damaging |
Het |
|
| Other mutations in Fto |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-11-11 |
Incidental Mutation