Mutagenetix > Incidental Mutation

Incidental Mutation 'R9097:Fut2'

691416

Institutional Source

Beutler Lab

Gene Symbol

Fut2

Ensembl Gene

ENSMUSG00000055978

Gene Name

fucosyltransferase 2

Synonyms

MMRRC Submission

068912-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9097 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45298015-45315818 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45300375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 132 (H132Q)

Ref Sequence

ENSEMBL: ENSMUSP00000063719 (fasta)

Gene Model

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

AlphaFold

Q9JL27

Predicted Effect

probably benign
Transcript: ENSMUST00000069800
AA Change: H132Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000063719
Gene: ENSMUSG00000055978
AA Change: H132Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210620

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

96% (50/52)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxrl	G	A	14: 33,793,660 (GRCm39)	V463I	probably benign	Het
Aox1	T	A	1: 58,326,887 (GRCm39)	L162Q	possibly damaging	Het
Arhgap40	A	T	2: 158,389,584 (GRCm39)	M586L	probably benign	Het
Arnt	G	T	3: 95,397,588 (GRCm39)	S535I	probably benign	Het
Bsx	G	T	9: 40,785,636 (GRCm39)	G55C	probably damaging	Het
Ccdc168	T	C	1: 44,098,049 (GRCm39)	I1016M	possibly damaging	Het
Col9a1	A	T	1: 24,224,207 (GRCm39)	I130F	unknown	Het
Cyp51	G	T	5: 4,149,172 (GRCm39)	T235N	possibly damaging	Het
Depdc1a	T	A	3: 159,204,117 (GRCm39)	D55E	probably benign	Het
Dlc1	A	T	8: 37,080,721 (GRCm39)	I10N	probably benign	Het
Dzank1	G	T	2: 144,316,882 (GRCm39)	L767I	possibly damaging	Het
Eif3k	A	T	7: 28,671,660 (GRCm39)	*193K	probably null	Het
Eprs1	C	A	1: 185,139,303 (GRCm39)	A896E	probably benign	Het
Evc2	T	A	5: 37,550,505 (GRCm39)	F840I	possibly damaging	Het
Gbp11	T	C	5: 105,474,347 (GRCm39)	*443W	probably null	Het
Gimd1	T	A	3: 132,340,661 (GRCm39)	M59K	probably benign	Het
Glis2	A	G	16: 4,429,640 (GRCm39)	T228A	probably damaging	Het
Gm21663	G	C	5: 26,147,167 (GRCm39)	C46W	probably benign	Het
Gpr162	A	G	6: 124,836,570 (GRCm39)	I367T	probably benign	Het
Grik1	G	A	16: 87,732,796 (GRCm39)	T692I		Het
Igf2r	G	T	17: 12,910,100 (GRCm39)	A2043D	probably damaging	Het
Il12b	C	A	11: 44,301,107 (GRCm39)	L208M	probably benign	Het
Il12b	T	A	11: 44,301,108 (GRCm39)	L208Q	probably damaging	Het
Lrrk2	C	T	15: 91,557,459 (GRCm39)		probably benign	Het
Map3k9	T	C	12: 81,819,855 (GRCm39)	D133G	possibly damaging	Het
Mrc2	A	G	11: 105,231,398 (GRCm39)	D777G	probably damaging	Het
Mtrr	A	G	13: 68,723,441 (GRCm39)	L157P	probably benign	Het
Nol4l	C	A	2: 153,312,630 (GRCm39)	R226L	probably damaging	Het
Nsmaf	CAAACTTTTAAACTT	CAAACTT	4: 6,416,543 (GRCm39)		probably null	Het
Or4f7	T	A	2: 111,644,196 (GRCm39)	K292*	probably null	Het
Or51f23c-ps1	A	G	7: 102,431,475 (GRCm39)	H264R	probably damaging	Het
Or5p73	A	T	7: 108,064,815 (GRCm39)	I95F	probably damaging	Het
Or6c7	T	A	10: 129,323,647 (GRCm39)	M256K	possibly damaging	Het
Or7g22	G	A	9: 19,048,670 (GRCm39)	C127Y	probably damaging	Het
Or9g8	T	A	2: 85,607,669 (GRCm39)	V247E	probably damaging	Het
Pkn2	C	T	3: 142,515,249 (GRCm39)	R695Q	probably benign	Het
Ppp1r9a	A	G	6: 4,906,012 (GRCm39)	D189G	probably damaging	Het
Prkca	A	G	11: 107,905,061 (GRCm39)	S226P	probably benign	Het
Ptpru	T	C	4: 131,499,843 (GRCm39)	N1267S	probably damaging	Het
Retnlb	T	A	16: 48,638,980 (GRCm39)		probably benign	Het
Rrp12	A	T	19: 41,878,577 (GRCm39)	D189E	probably benign	Het
Serpinb7	G	A	1: 107,377,907 (GRCm39)	C200Y	probably damaging	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Stk32a	A	T	18: 43,446,497 (GRCm39)	M316L	possibly damaging	Het
Supt6	G	T	11: 78,113,100 (GRCm39)	H948N	probably benign	Het
Sycp2l	A	T	13: 41,300,070 (GRCm39)	D428V	possibly damaging	Het
Tasp1	A	T	2: 139,725,690 (GRCm39)		probably null	Het
Telo2	T	C	17: 25,324,066 (GRCm39)	T550A	probably benign	Het
Tmem131l	A	T	3: 83,850,122 (GRCm39)	N225K	probably damaging	Het
Tnc	T	C	4: 63,888,622 (GRCm39)	T1724A	possibly damaging	Het
Tyk2	C	A	9: 21,020,072 (GRCm39)	E1029*	probably null	Het
Uhmk1	C	T	1: 170,042,879 (GRCm39)		probably benign	Het
Vav2	G	A	2: 27,181,850 (GRCm39)	R330W	probably damaging	Het
Vmn1r16	A	T	6: 57,300,250 (GRCm39)	I124N	probably benign	Het
Vmn1r181	A	G	7: 23,684,444 (GRCm39)	N303S	probably benign	Het
Vmn1r50	G	A	6: 90,085,022 (GRCm39)	V256I	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
IGL03271: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
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

Predicted Primers

PCR Primer
(F):5'- TGACATGCACATAGTCCCCTC -3'
(R):5'- CACGATCAATTCCATCGGCC -3'

Sequencing Primer
(F):5'- ACAAAGGTACTCGGCTGGCTC -3'
(R):5'- AATTCCATCGGCCGCCTG -3'

Posted On

2021-12-30