Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03271:Fut2'

415248

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fut2

Ensembl Gene

ENSMUSG00000055978

Gene Name

fucosyltransferase 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03271

Quality Score

Status

Chromosome

Chromosomal Location

45298015-45315818 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45300193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 193 (G193E)

Ref Sequence

ENSEMBL: ENSMUSP00000063719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069800] [ENSMUST00000210620]

AlphaFold

Q9JL27

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069800
AA Change: G193E

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063719
Gene: ENSMUSG00000055978
AA Change: G193E

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_11	21	338	2.1e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211324

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is one of three genes in mouse which encode a galactoside 2-L-fucosyltransferase. These genes differ in their developmental- and tissue-specific expression. The encoded type II membrane protein is anchored in the Golgi apparatus and controls the final step in the creation of alpha (1,2) fucosylated carbhohydrates by the addition of a terminal fucose in an alpha (1,2) linkage. This enzyme is involved in the synthesis of the Lewis antigen as well as the H-antigen, a precursor of the A and B antigens of the ABH histo-blood group. The biological function of the fucosylated carbhohydrate products is thought to involve cell-adhesion and interactions with microorganisms. Disruption of this gene results in altered glycosylation of gastric mucosa and uterine epithelia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. Females are somewhate more susceptible to infections withCandida albicans. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	G	T	13: 111,392,408 (GRCm39)	V248L	probably benign	Het
Actl6b	T	A	5: 137,564,246 (GRCm39)	I256N	probably damaging	Het
Agl	G	T	3: 116,572,776 (GRCm39)	T825K	probably benign	Het
Arid5b	A	T	10: 67,933,287 (GRCm39)	S629T	possibly damaging	Het
Atp13a2	T	C	4: 140,727,708 (GRCm39)	I495T	possibly damaging	Het
Bcl6	G	T	16: 23,788,756 (GRCm39)	H537Q	probably benign	Het
Cdh12	A	G	15: 21,586,539 (GRCm39)	E786G	probably benign	Het
Cep290	T	A	10: 100,373,663 (GRCm39)	N1307K	probably benign	Het
Cops3	A	T	11: 59,723,889 (GRCm39)	N89K	probably damaging	Het
Cyp4a29	T	C	4: 115,111,705 (GRCm39)	V494A	probably damaging	Het
Dlg1	A	G	16: 31,676,710 (GRCm39)	H675R	possibly damaging	Het
Dnajc6	T	A	4: 101,365,274 (GRCm39)		probably benign	Het
Dock10	C	A	1: 80,483,126 (GRCm39)	K2107N	probably damaging	Het
Dop1a	T	A	9: 86,386,275 (GRCm39)	L382*	probably null	Het
Faxc	A	C	4: 21,948,757 (GRCm39)	K156N	possibly damaging	Het
Gapvd1	C	A	2: 34,617,219 (GRCm39)		probably benign	Het
Gfm1	T	C	3: 67,382,076 (GRCm39)	Y717H	probably damaging	Het
Gm4884	A	T	7: 40,692,699 (GRCm39)	T223S	probably benign	Het
Gstm3	C	A	3: 107,873,513 (GRCm39)	V153F	possibly damaging	Het
H2-M10.5	G	T	17: 37,084,243 (GRCm39)	L68F	possibly damaging	Het
Hmcn1	G	T	1: 150,474,175 (GRCm39)	H4756N	possibly damaging	Het
Ift140	C	A	17: 25,306,880 (GRCm39)	R872S	probably damaging	Het
Lars2	T	A	9: 123,288,549 (GRCm39)		probably null	Het
Ltbp4	A	G	7: 27,029,240 (GRCm39)	V149A	unknown	Het
Mpp2	A	T	11: 101,954,249 (GRCm39)		probably benign	Het
Mybbp1a	A	G	11: 72,334,744 (GRCm39)		probably benign	Het
Nxpe4	C	A	9: 48,304,345 (GRCm39)	P144Q	probably damaging	Het
Or13p3	T	A	4: 118,566,982 (GRCm39)	I126N	probably damaging	Het
Or5p6	C	T	7: 107,630,714 (GRCm39)	V279M	probably damaging	Het
Parp4	C	A	14: 56,823,082 (GRCm39)	N67K	probably benign	Het
Pdk1	G	T	2: 71,710,374 (GRCm39)		probably benign	Het
Phip	A	T	9: 82,766,877 (GRCm39)		probably benign	Het
Pls1	A	G	9: 95,658,883 (GRCm39)	S202P	probably benign	Het
Pmpcb	A	G	5: 21,943,874 (GRCm39)	Y36C	probably benign	Het
Pole	T	C	5: 110,466,185 (GRCm39)	S1296P	probably benign	Het
Ptpn13	T	C	5: 103,610,014 (GRCm39)	S4P	probably damaging	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Sec61a2	A	T	2: 5,887,745 (GRCm39)	L79*	probably null	Het
Slc2a5	T	C	4: 150,220,040 (GRCm39)	L152P	probably damaging	Het
Smu1	C	T	4: 40,738,408 (GRCm39)	G442D	probably benign	Het
Spag16	T	A	1: 69,892,511 (GRCm39)	N97K	probably benign	Het
Spag6l	C	T	16: 16,598,592 (GRCm39)	D300N	probably damaging	Het
Sult3a1	A	G	10: 33,739,997 (GRCm39)	T19A	probably benign	Het
Ttll6	A	G	11: 96,047,513 (GRCm39)	H704R	probably benign	Het
Uba1	T	A	X: 20,541,956 (GRCm39)	D569E	probably damaging	Het
Umodl1	T	A	17: 31,205,473 (GRCm39)	Y689*	probably null	Het
Unc80	A	G	1: 66,734,762 (GRCm39)		probably benign	Het
Utp15	C	A	13: 98,390,202 (GRCm39)	V282F	probably damaging	Het
Vmn1r184	A	G	7: 25,967,034 (GRCm39)	Y260C	probably benign	Het
Vmn1r69	A	G	7: 10,314,596 (GRCm39)	V45A	probably benign	Het
Vmn2r4	C	A	3: 64,305,850 (GRCm39)	R524L	probably benign	Het

Other mutations in Fut2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02814:Fut2	APN	7	45,300,193 (GRCm39)	missense	possibly damaging	0.94
IGL02831:Fut2	APN	7	45,300,193 (GRCm39)	missense	possibly damaging	0.94
IGL02982:Fut2	APN	7	45,300,193 (GRCm39)	missense	possibly damaging	0.94
IGL03071:Fut2	APN	7	45,300,193 (GRCm39)	missense	possibly damaging	0.94
IGL03090:Fut2	APN	7	45,300,193 (GRCm39)	missense	possibly damaging	0.94
IGL03126:Fut2	APN	7	45,300,193 (GRCm39)	missense	possibly damaging	0.94
IGL03146:Fut2	APN	7	45,300,193 (GRCm39)	missense	possibly damaging	0.94
IGL03151:Fut2	APN	7	45,300,193 (GRCm39)	missense	possibly damaging	0.94
IGL03179:Fut2	APN	7	45,300,073 (GRCm39)	missense	probably benign	0.02
IGL03212:Fut2	APN	7	45,300,193 (GRCm39)	missense	possibly damaging	0.94
IGL03213:Fut2	APN	7	45,300,193 (GRCm39)	missense	possibly damaging	0.94
IGL03234:Fut2	APN	7	45,300,193 (GRCm39)	missense	possibly damaging	0.94
IGL03372:Fut2	APN	7	45,300,193 (GRCm39)	missense	possibly damaging	0.94
IGL03381:Fut2	APN	7	45,300,193 (GRCm39)	missense	possibly damaging	0.94
IGL03385:Fut2	APN	7	45,300,193 (GRCm39)	missense	possibly damaging	0.94
IGL03392:Fut2	APN	7	45,300,193 (GRCm39)	missense	possibly damaging	0.94
PIT4515001:Fut2	UTSW	7	45,299,890 (GRCm39)	missense	probably damaging	1.00
R0553:Fut2	UTSW	7	45,300,698 (GRCm39)	missense	probably damaging	1.00
R1895:Fut2	UTSW	7	45,300,748 (GRCm39)	missense	probably damaging	1.00
R1946:Fut2	UTSW	7	45,300,748 (GRCm39)	missense	probably damaging	1.00
R2347:Fut2	UTSW	7	45,299,752 (GRCm39)	missense	probably damaging	0.99
R3155:Fut2	UTSW	7	45,300,091 (GRCm39)	missense	probably damaging	1.00
R3156:Fut2	UTSW	7	45,300,091 (GRCm39)	missense	probably damaging	1.00
R4590:Fut2	UTSW	7	45,300,370 (GRCm39)	missense	possibly damaging	0.64
R6311:Fut2	UTSW	7	45,299,804 (GRCm39)	missense	possibly damaging	0.46
R6810:Fut2	UTSW	7	45,299,929 (GRCm39)	missense	probably damaging	1.00
R6965:Fut2	UTSW	7	45,300,305 (GRCm39)	missense	probably damaging	1.00
R8135:Fut2	UTSW	7	45,300,566 (GRCm39)	missense	probably damaging	1.00
R9087:Fut2	UTSW	7	45,300,493 (GRCm39)	missense	probably damaging	1.00
R9097:Fut2	UTSW	7	45,300,375 (GRCm39)	missense	probably benign	0.01
R9462:Fut2	UTSW	7	45,300,492 (GRCm39)	missense	probably damaging	1.00
X0066:Fut2	UTSW	7	45,299,798 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02