Mutagenetix > Incidental Mutations

Incidental Mutation 'R5347:Fto'

422679

Institutional Source

Beutler Lab

Gene Symbol

Fto

Ensembl Gene

ENSMUSG00000055932

Gene Name

fat mass and obesity associated

Synonyms

MMRRC Submission

042926-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5347 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91313525-91668439 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 91391479 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069718] [ENSMUST00000125471] [ENSMUST00000128081] [ENSMUST00000136802] [ENSMUST00000149913] [ENSMUST00000166548]

Predicted Effect

probably benign
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

unknown
Transcript: ENSMUST00000149913
AA Change: T20A

SMART Domains

Protein: ENSMUSP00000123142
Gene: ENSMUSG00000055932
AA Change: T20A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209572

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,892,154	Y233C	probably damaging	Het
Agl	A	G	3: 116,791,165	S169P	probably damaging	Het
Arid1b	C	T	17: 5,291,057	Q879*	probably null	Het
Bbs2	A	G	8: 94,092,550	S64P	probably damaging	Het
BC027072	A	G	17: 71,749,935	S916P	probably benign	Het
Bend7	G	A	2: 4,763,241	R336Q	probably damaging	Het
Cacna2d2	A	G	9: 107,514,114	T447A	probably benign	Het
Ccdc169	A	T	3: 55,142,319		probably benign	Het
Cdan1	A	G	2: 120,730,065	S275P	possibly damaging	Het
Cdh15	A	G	8: 122,862,063	N292S	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cnnm1	A	G	19: 43,441,862	H473R	probably benign	Het
Cplx4	G	A	18: 65,970,086		probably benign	Het
Crb1	C	T	1: 139,337,371	G103E	probably damaging	Het
Diexf	A	T	1: 193,128,379	D105E	probably benign	Het
Dnaja3	T	A	16: 4,694,482	V250E	possibly damaging	Het
Dync2h1	T	G	9: 7,129,727	Q1757P	probably damaging	Het
Edem3	A	G	1: 151,807,451	Q626R	probably damaging	Het
Eif2b1	T	C	5: 124,578,799		probably benign	Het
Esf1	T	A	2: 140,154,881	K521*	probably null	Het
Fam160b1	A	G	19: 57,378,619	D198G	probably benign	Het
Fbxl3	A	C	14: 103,083,294	V239G	probably damaging	Het
Gm5773	T	C	3: 93,773,783	L254P	probably damaging	Het
Gm5916	A	T	9: 36,120,716	W91R	probably benign	Het
Gm8251	T	A	1: 44,057,795	Y1381F	probably benign	Het
Gpam	A	T	19: 55,088,837	L174H	probably damaging	Het
Grk1	G	A	8: 13,414,478	R450Q	probably damaging	Het
Hc	G	A	2: 35,037,624	A326V	probably benign	Het
Hectd4	T	C	5: 121,304,448	I1317T	probably benign	Het
Hlcs	A	G	16: 94,267,524	V426A	possibly damaging	Het
Ighv1-23	T	C	12: 114,764,756		probably benign	Het
Itgax	G	A	7: 128,141,302	V754I	probably benign	Het
Krt24	T	A	11: 99,282,730	D255V	probably damaging	Het
Lnpk	T	C	2: 74,573,591		probably benign	Het
Loxhd1	G	T	18: 77,366,541	R478L	probably damaging	Het
Lrrc56	A	G	7: 141,209,624	Q518R	probably benign	Het
Mbl1	A	T	14: 41,158,829	I225F	probably damaging	Het
Mmp21	T	C	7: 133,675,922	S392G	probably benign	Het
Mug2	T	G	6: 122,081,592	F1318V	probably damaging	Het
Myo5c	A	G	9: 75,295,205	N1447S	probably null	Het
Nbea	A	C	3: 56,040,876	V543G	probably damaging	Het
Necap1	A	G	6: 122,880,747	I96V	probably benign	Het
Nr3c2	T	A	8: 77,210,748	M872K	possibly damaging	Het
Nrf1	C	T	6: 30,118,968	T362M	probably benign	Het
Olfr113	T	C	17: 37,574,727	E232G	probably damaging	Het
Plekhm3	T	C	1: 64,819,990	E685G	probably damaging	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Sbk3	A	T	7: 4,967,423	S316T	probably benign	Het
Serpinb9e	T	C	13: 33,257,784	L233P	probably damaging	Het
Set	T	A	2: 30,069,410	S132T	possibly damaging	Het
Slc17a4	C	T	13: 23,908,817	E11K	possibly damaging	Het
Slc22a6	T	A	19: 8,618,553	N86K	possibly damaging	Het
Slco1a6	A	G	6: 142,086,599	L600P	probably damaging	Het
Sp8	A	G	12: 118,848,511	K34E	possibly damaging	Het
Spen	T	A	4: 141,471,485	E3254V	probably benign	Het
Tcf12	G	A	9: 71,885,243	P53S	probably damaging	Het
Tcf3	A	G	10: 80,410,211	V626A	probably damaging	Het
Trpc4ap	A	G	2: 155,672,988		probably null	Het
Ttc3	T	A	16: 94,429,620	V892D	probably damaging	Het
Tub	G	T	7: 109,026,771	R243L	possibly damaging	Het
Tubgcp5	A	G	7: 55,823,685	Y837C	probably damaging	Het
Wdhd1	A	T	14: 47,268,724	Y244*	probably null	Het
Xdh	T	A	17: 73,925,032	T228S	probably benign	Het
Zfp418	A	C	7: 7,182,535	Q499P	probably benign	Het
Zfpm1	G	A	8: 122,335,530	E443K	possibly damaging	Het
Zfy1	T	C	Y: 725,950	H605R	possibly damaging	Het

Other mutations in Fto

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01458:Fto	APN	8	91441716	missense	probably benign	0.29
IGL01541:Fto	APN	8	91409748	missense	probably damaging	1.00
IGL01636:Fto	APN	8	91409341	missense	probably damaging	1.00
IGL01788:Fto	APN	8	91409731	missense	probably benign	0.25
IGL02016:Fto	APN	8	91666406	nonsense	probably null
IGL02365:Fto	APN	8	91468375	missense	probably damaging	1.00
IGL02639:Fto	APN	8	91409528	missense	probably damaging	1.00
IGL02926:Fto	APN	8	91485167	missense	probably damaging	1.00
IGL03194:Fto	APN	8	91409787	missense	probably damaging	1.00
R0091:Fto	UTSW	8	91441807	critical splice donor site	probably null
R0105:Fto	UTSW	8	91522802	missense	probably damaging	1.00
R0326:Fto	UTSW	8	91409527	missense	probably damaging	1.00
R0332:Fto	UTSW	8	91401890	splice site	probably benign
R0378:Fto	UTSW	8	91474312	missense	probably damaging	1.00
R0601:Fto	UTSW	8	91401802	splice site	probably null
R1526:Fto	UTSW	8	91441686	missense	possibly damaging	0.90
R2092:Fto	UTSW	8	91409687	nonsense	probably null
R4731:Fto	UTSW	8	91409714	missense	probably damaging	1.00
R4732:Fto	UTSW	8	91409714	missense	probably damaging	1.00
R4733:Fto	UTSW	8	91409714	missense	probably damaging	1.00
R5840:Fto	UTSW	8	91666440	utr 3 prime	probably benign
R7213:Fto	UTSW	8	91391507	missense	probably benign	0.00
R7271:Fto	UTSW	8	91485190	missense	probably damaging	1.00
R7658:Fto	UTSW	8	91666322	missense	probably benign	0.34
R7763:Fto	UTSW	8	91409443	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAGACTGCAGGGTTGTGTCC -3'
(R):5'- AACTTAGGTGTCTGCACTTCC -3'

Sequencing Primer
(F):5'- GGTTGTGTCCCTAGCAAAATAGAC -3'
(R):5'- CGGGCTACATATTCTATAAATGTTGG -3'

Posted On

2016-08-04