Mutagenetix > Incidental Mutation

Incidental Mutation 'R9462:Fut2'

714935

Institutional Source

Beutler Lab

Gene Symbol

Fut2

Ensembl Gene

ENSMUSG00000055978

Gene Name

fucosyltransferase 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9462 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45648591-45666394 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45651068 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 93 (N93K)

Ref Sequence

ENSEMBL: ENSMUSP00000063719 (fasta)

Gene Model

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

AlphaFold

Q9JL27

Predicted Effect

probably damaging
Transcript: ENSMUST00000069800
AA Change: N93K

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

SMART Domains

Protein: ENSMUSP00000063719
Gene: ENSMUSG00000055978
AA Change: N93K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000210620
AA Change: N93K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	G	A	4: 103,235,767	T220I	probably benign	Het
Abca8b	T	A	11: 109,953,607	H928L		Het
Ahnak	A	T	19: 9,003,935	D861V	probably damaging	Het
Ahnak2	C	A	12: 112,787,035	R89L		Het
Aipl1	C	T	11: 72,037,427	G11D	probably damaging	Het
Anks6	A	G	4: 47,033,142	L573P	unknown	Het
Ano5	T	C	7: 51,585,452	V711A	probably benign	Het
Arl2bp	C	A	8: 94,672,127	A120D	probably damaging	Het
Asap1	A	G	15: 64,166,479	Y223H	probably damaging	Het
Atp7b	A	T	8: 22,000,144	M1151K	probably damaging	Het
B4galnt3	A	T	6: 120,294,477	L28Q	probably null	Het
Ccdc39	T	C	3: 33,814,370	K856E	probably benign	Het
Ccr9	A	G	9: 123,779,535	D94G	probably damaging	Het
Cdan1	A	G	2: 120,729,579	I368T	possibly damaging	Het
Cfap54	T	C	10: 92,902,058	Q2326R	unknown	Het
Chrm3	T	C	13: 9,877,401	Y533C		Het
Ckap4	C	T	10: 84,528,060	E380K	possibly damaging	Het
Cntnap2	T	C	6: 46,234,283	F544L	probably damaging	Het
Cwh43	A	G	5: 73,434,352	K596R	probably benign	Het
Cyp26c1	A	G	19: 37,693,186	E479G	probably damaging	Het
Deup1	A	G	9: 15,582,586	V420A	probably benign	Het
Dnah3	A	G	7: 119,952,300	V2932A	probably benign	Het
Dthd1	G	A	5: 62,882,283	R676H	probably benign	Het
Eef1e1	A	G	13: 38,655,021	L120P	probably damaging	Het
Elane	T	C	10: 79,888,049	S244P	probably benign	Het
Esp6	A	G	17: 40,565,424	E121G	probably benign	Het
Eya1	T	C	1: 14,229,551	E326G	probably damaging	Het
Fam71e2	A	G	7: 4,758,331	S461P		Het
Gm12695	A	G	4: 96,762,838	V126A	probably benign	Het
Gm28710	G	T	5: 16,822,215	A379S		Het
Gucy2g	A	G	19: 55,233,037		probably null	Het
Hbs1l	T	C	10: 21,342,405	V267A	probably damaging	Het
Hsd17b1	A	T	11: 101,078,980	N106I	possibly damaging	Het
Ino80d	G	A	1: 63,058,234	L939F	probably damaging	Het
Lilra6	A	G	7: 3,911,995	W505R	probably damaging	Het
Map3k14	T	A	11: 103,227,534	K609*	probably null	Het
Mark1	T	A	1: 184,919,671	K212N	probably damaging	Het
Muc5b	T	A	7: 141,861,479	C2721S		Het
Myh4	A	G	11: 67,250,985	D890G	possibly damaging	Het
Mylk2	T	G	2: 152,919,453	L492R	probably damaging	Het
Myt1	T	A	2: 181,825,936	Y1134*	probably null	Het
N4bp2	G	A	5: 65,790,555	G176D	probably benign	Het
Ncstn	A	C	1: 172,072,140	M325R	probably damaging	Het
Ndor1	C	T	2: 25,254,863		probably null	Het
Notch4	G	A	17: 34,587,693	R1868H	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,057		probably benign	Het
Olfr1360	A	T	13: 21,674,845	V33E	probably benign	Het
Olfr285	T	A	15: 98,313,305	N82Y	possibly damaging	Het
Oxct2a	G	T	4: 123,322,648	D313E	probably damaging	Het
Pcdha2	T	A	18: 36,940,493	H392Q	probably benign	Het
Pcdhb20	T	G	18: 37,506,746	L775R	probably benign	Het
Pclo	A	G	5: 14,790,394	D1449G		Het
Pcx	A	G	19: 4,601,942	T73A	probably benign	Het
Pou6f2	A	G	13: 18,139,604	S395P	probably benign	Het
Prss35	C	G	9: 86,756,339	I387M		Het
Radil	C	A	5: 142,485,465	D1019Y	probably damaging	Het
Rnf40	G	T	7: 127,591,838		probably null	Het
Scarb1	A	T	5: 125,340,827	L19Q	probably damaging	Het
Scn8a	T	A	15: 101,032,278	F1457I		Het
Sdk2	C	T	11: 113,869,918	V339I	possibly damaging	Het
Siglec1	A	G	2: 131,074,484	L1182P	probably damaging	Het
Slc4a4	G	A	5: 89,046,272	V204I	probably damaging	Het
Sp9	T	C	2: 73,273,899	S266P	probably benign	Het
Spata21	A	G	4: 141,104,005	E421G	probably damaging	Het
Sulf1	C	T	1: 12,859,235	P242L	probably damaging	Het
Sval3	G	A	6: 41,968,171	G11E	possibly damaging	Het
Tecta	T	A	9: 42,337,280	Y1942F	probably damaging	Het
Thbs2	C	T	17: 14,669,981	G1121D	probably damaging	Het
Thrap3	G	T	4: 126,176,255	S613*	probably null	Het
Ttc34	A	C	4: 154,858,082	K59Q	probably damaging	Het
Ube4b	A	T	4: 149,360,291	L504Q	probably damaging	Het
Uncx	A	T	5: 139,544,016	E8V	probably damaging	Het
Vmn1r79	A	T	7: 12,176,334	I48F	probably damaging	Het
Vmn2r99	C	A	17: 19,378,126	Y137*	probably null	Het
Zcchc6	A	T	13: 59,782,143	L1428H	possibly damaging	Het
Zfp354b	G	A	11: 50,923,696	T134I	probably benign	Het
Zfp618	G	A	4: 63,133,273	V764I	possibly damaging	Het
Zfp873	T	G	10: 82,061,297	C621G	probably benign	Het

Other mutations in Fut2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02814:Fut2	APN	7	45650769	missense	possibly damaging	0.94
IGL02831:Fut2	APN	7	45650769	missense	possibly damaging	0.94
IGL02982:Fut2	APN	7	45650769	missense	possibly damaging	0.94
IGL03071:Fut2	APN	7	45650769	missense	possibly damaging	0.94
IGL03090:Fut2	APN	7	45650769	missense	possibly damaging	0.94
IGL03126:Fut2	APN	7	45650769	missense	possibly damaging	0.94
IGL03146:Fut2	APN	7	45650769	missense	possibly damaging	0.94
IGL03151:Fut2	APN	7	45650769	missense	possibly damaging	0.94
IGL03179:Fut2	APN	7	45650649	missense	probably benign	0.02
IGL03212:Fut2	APN	7	45650769	missense	possibly damaging	0.94
IGL03213:Fut2	APN	7	45650769	missense	possibly damaging	0.94
IGL03234:Fut2	APN	7	45650769	missense	possibly damaging	0.94
IGL03271:Fut2	APN	7	45650769	missense	possibly damaging	0.94
IGL03372:Fut2	APN	7	45650769	missense	possibly damaging	0.94
IGL03381:Fut2	APN	7	45650769	missense	possibly damaging	0.94
IGL03385:Fut2	APN	7	45650769	missense	possibly damaging	0.94
IGL03392:Fut2	APN	7	45650769	missense	possibly damaging	0.94
PIT4515001:Fut2	UTSW	7	45650466	missense	probably damaging	1.00
R0553:Fut2	UTSW	7	45651274	missense	probably damaging	1.00
R1895:Fut2	UTSW	7	45651324	missense	probably damaging	1.00
R1946:Fut2	UTSW	7	45651324	missense	probably damaging	1.00
R2347:Fut2	UTSW	7	45650328	missense	probably damaging	0.99
R3155:Fut2	UTSW	7	45650667	missense	probably damaging	1.00
R3156:Fut2	UTSW	7	45650667	missense	probably damaging	1.00
R4590:Fut2	UTSW	7	45650946	missense	possibly damaging	0.64
R6311:Fut2	UTSW	7	45650380	missense	possibly damaging	0.46
R6810:Fut2	UTSW	7	45650505	missense	probably damaging	1.00
R6965:Fut2	UTSW	7	45650881	missense	probably damaging	1.00
R8135:Fut2	UTSW	7	45651142	missense	probably damaging	1.00
R9087:Fut2	UTSW	7	45651069	missense	probably damaging	1.00
R9097:Fut2	UTSW	7	45650951	missense	probably benign	0.01
X0066:Fut2	UTSW	7	45650374	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACTCCTTCAGGATCTCTGGG -3'
(R):5'- CTCCAAACCCTGTCAGAGAAGG -3'

Sequencing Primer
(F):5'- GGTATCCCGTGAAACGCAC -3'
(R):5'- GAATTACAGGCGGTTCAAATGTCCTC -3'

Posted On

2022-06-15