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)
|
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
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 null
Transcript: ENSMUST00000069718
|
SMART Domains |
Protein: ENSMUSP00000068380 Gene: ENSMUSG00000055932
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 null
Transcript: ENSMUST00000069718
|
SMART Domains |
Protein: ENSMUSP00000068380 Gene: ENSMUSG00000055932
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128081
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136802
|
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
|
SMART Domains |
Protein: ENSMUSP00000127680 Gene: ENSMUSG00000055932
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |