Mutagenetix > Incidental Mutation

Incidental Mutation 'R8110:Fto'

630811

Institutional Source

Beutler Lab

Gene Symbol

Fto

Ensembl Gene

ENSMUSG00000055932

Gene Name

FTO alpha-ketoglutarate dependent dioxygenase

Synonyms

MMRRC Submission

067539-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8110 (G1)

Quality Score

200.009

Status

Validated

Chromosome

Chromosomal Location

92040153-92395067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92211818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 381 (F381S)

Ref Sequence

ENSEMBL: ENSMUSP00000068380 (fasta)

Gene Model

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

AlphaFold

Q8BGW1

Predicted Effect

probably damaging
Transcript: ENSMUST00000069718
AA Change: F381S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068380
Gene: ENSMUSG00000055932
AA Change: F381S

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: ENSMUST00000128081
AA Change: F381S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000136802
AA Change: F381S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 93.1%

Validation Efficiency

99% (73/74)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd45	T	C	1: 160,978,889 (GRCm39)		probably null	Het
Appl1	C	A	14: 26,649,751 (GRCm39)	G592*	probably null	Het
Arfgef2	T	A	2: 166,720,464 (GRCm39)	M1501K	probably benign	Het
Calcrl	C	T	2: 84,169,683 (GRCm39)	A333T	probably damaging	Het
Cd200r3	T	A	16: 44,771,835 (GRCm39)	I33N	probably benign	Het
Ceacam15	A	G	7: 16,407,334 (GRCm39)	L61P	probably benign	Het
Cfap69	T	A	5: 5,632,515 (GRCm39)	H827L	possibly damaging	Het
Csmd3	T	A	15: 47,507,666 (GRCm39)	E2780V	probably damaging	Het
Cyp2u1	G	A	3: 131,087,303 (GRCm39)	T426I	probably damaging	Het
Eefsec	A	C	6: 88,353,312 (GRCm39)	I119S	probably damaging	Het
Fem1b	T	C	9: 62,703,550 (GRCm39)	N570S	probably damaging	Het
Fmo9	A	G	1: 166,491,095 (GRCm39)	M461T	probably benign	Het
Fryl	A	G	5: 73,290,620 (GRCm39)	Y95H	probably benign	Het
Fsip2	T	C	2: 82,789,017 (GRCm39)	I346T	probably benign	Het
Gabbr1	G	C	17: 37,359,475 (GRCm39)	S150T	probably benign	Het
Galnt9	G	T	5: 110,763,339 (GRCm39)	W448L	probably damaging	Het
Gcnt2	G	T	13: 41,071,198 (GRCm39)		probably benign	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Hectd4	A	G	5: 121,471,012 (GRCm39)	Y2633C	possibly damaging	Het
Hsd11b2	A	G	8: 106,249,266 (GRCm39)	I214V	probably damaging	Het
Hspa12a	T	A	19: 58,809,445 (GRCm39)	E217V	possibly damaging	Het
Itih2	A	G	2: 10,101,948 (GRCm39)	F845L	probably damaging	Het
Kcnn3	T	A	3: 89,568,540 (GRCm39)	L606H	probably damaging	Het
Krt6b	G	A	15: 101,588,577 (GRCm39)	R28C	probably damaging	Het
Lama2	T	A	10: 26,866,866 (GRCm39)	D2876V	probably damaging	Het
Lmbrd2	T	C	15: 9,175,279 (GRCm39)	S397P	probably damaging	Het
Lmf2	C	T	15: 89,236,561 (GRCm39)		probably null	Het
Lrp2	A	G	2: 69,336,797 (GRCm39)	I1325T	probably benign	Het
Ltbp2	A	T	12: 84,850,676 (GRCm39)	C879*	probably null	Het
Map3k1	A	G	13: 111,891,847 (GRCm39)	V1136A	probably damaging	Het
Mettl3	G	T	14: 52,537,709 (GRCm39)	H84N	probably benign	Het
Mia2	A	G	12: 59,155,873 (GRCm39)		probably null	Het
Mlip	G	T	9: 77,146,861 (GRCm39)	T92K	probably damaging	Het
Nalcn	T	A	14: 123,702,113 (GRCm39)	Y466F	probably benign	Het
Nav2	T	A	7: 49,201,698 (GRCm39)	L235*	probably null	Het
Nbn	T	C	4: 15,981,588 (GRCm39)	V560A	probably benign	Het
Ncln	A	T	10: 81,328,987 (GRCm39)	Y144N	possibly damaging	Het
Nfe2l2	A	C	2: 75,509,765 (GRCm39)	D18E	probably benign	Het
Or10aa3	G	A	1: 173,878,091 (GRCm39)	A51T	probably benign	Het
Or12d2	A	G	17: 37,624,604 (GRCm39)	F224L	probably benign	Het
Or1ak2	T	C	2: 36,827,721 (GRCm39)	C197R	possibly damaging	Het
Or5w11	T	C	2: 87,458,951 (GRCm39)	I48T	possibly damaging	Het
Otop3	A	T	11: 115,230,221 (GRCm39)	M33L	probably benign	Het
Pate7	T	C	9: 35,689,329 (GRCm39)	*84W	probably null	Het
Pdzd2	G	A	15: 12,373,592 (GRCm39)	S2181L	probably benign	Het
Phf14	T	C	6: 11,953,422 (GRCm39)	I387T	possibly damaging	Het
Prb1c	C	T	6: 132,338,531 (GRCm39)	G229D	unknown	Het
Prdm9	T	A	17: 15,774,960 (GRCm39)	N318Y	probably damaging	Het
Proca1	A	G	11: 78,095,737 (GRCm39)	D123G	probably damaging	Het
Prune2	G	A	19: 17,098,083 (GRCm39)	G1196S	probably benign	Het
Psd3	T	A	8: 68,573,708 (GRCm39)	S158C	probably damaging	Het
Rps18	A	G	17: 34,174,110 (GRCm39)	V15A	probably benign	Het
Sanbr	G	T	11: 23,526,764 (GRCm39)	T696N	probably benign	Het
Sharpin	C	A	15: 76,231,965 (GRCm39)	R271L	possibly damaging	Het
Smad5	C	A	13: 56,871,701 (GRCm39)	Q99K	probably damaging	Het
Sox5	T	C	6: 144,062,200 (GRCm39)	M151V	possibly damaging	Het
Sphkap	A	T	1: 83,256,492 (GRCm39)	F419Y	possibly damaging	Het
Tbx20	T	A	9: 24,636,821 (GRCm39)	Y422F	probably damaging	Het
Tcirg1	A	C	19: 3,949,099 (GRCm39)	F397V	probably damaging	Het
Tex36	G	A	7: 133,197,012 (GRCm39)	S35F	possibly damaging	Het
Tsen54	G	T	11: 115,705,760 (GRCm39)	A26S	unknown	Het
Usp50	T	A	2: 126,622,250 (GRCm39)		probably null	Het
Vmn2r5	A	T	3: 64,398,709 (GRCm39)	F757I	probably benign	Het
Zbbx	T	C	3: 75,062,749 (GRCm39)	T3A	possibly damaging	Het
Zfp28	T	A	7: 6,392,828 (GRCm39)	M168K	probably benign	Het
Zfp568	G	T	7: 29,722,551 (GRCm39)	G499W	probably damaging	Het
Zfp7	C	G	15: 76,775,131 (GRCm39)	P391R	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGTCAAGCTTTTCTCGCC -3'
(R):5'- AAACAGAATTGCAGGCTGCTCC -3'

Sequencing Primer
(F):5'- AAGCTTTTCTCGCCTGCCTC -3'
(R):5'- TGGACGACGTATACATTTGCC -3'

Posted On

2020-06-30