Incidental Mutation 'IGL03151:Fut2'
ID411093
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fut2
Ensembl Gene ENSMUSG00000055978
Gene Namefucosyltransferase 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03151
Quality Score
Status
Chromosome7
Chromosomal Location45648591-45666394 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 45650769 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700074P13Rik A G 6: 40,926,012 F142S probably damaging Het
Acot1 G A 12: 84,014,552 A211T probably damaging Het
Ampd1 T C 3: 103,092,470 probably null Het
Armc3 T G 2: 19,238,698 L75R probably damaging Het
Atp9b T C 18: 80,776,850 D573G probably benign Het
Baz1a T A 12: 54,909,149 probably null Het
BC037034 A G 5: 138,262,672 L237S possibly damaging Het
C1ra A T 6: 124,519,771 I389F probably benign Het
Ccdc87 T A 19: 4,841,557 N692K probably benign Het
Ccr9 A G 9: 123,774,573 probably benign Het
Ces4a G T 8: 105,148,197 probably null Het
Dazap1 G A 10: 80,280,920 probably benign Het
Dock5 A G 14: 67,866,067 Y45H probably damaging Het
Eloa A T 4: 136,010,421 Y409* probably null Het
Fam170a A G 18: 50,281,641 E118G probably damaging Het
Glra1 C T 11: 55,527,380 V180I probably damaging Het
Il17rb T C 14: 30,006,853 T28A probably benign Het
Ints9 T A 14: 65,032,340 V493E possibly damaging Het
Kcnq5 C T 1: 21,535,069 C204Y probably damaging Het
Npc1 A T 18: 12,219,275 N122K probably benign Het
Olfr124 G A 17: 37,805,268 G41D probably damaging Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Prss21 A G 17: 23,869,402 T114A probably damaging Het
Rab10 G A 12: 3,249,812 T193M probably benign Het
Serpini1 T A 3: 75,613,296 S67T probably benign Het
Slc35b1 T C 11: 95,390,386 probably null Het
Sorbs2 A T 8: 45,799,713 H388L probably benign Het
Tfap2c T A 2: 172,557,190 C427* probably null Het
Ttn G T 2: 76,802,388 F14107L probably damaging Het
Upf1 G T 8: 70,335,387 T774K probably damaging Het
Vmn1r170 G A 7: 23,606,577 V135M probably benign Het
Vmn2r14 C T 5: 109,216,394 C552Y probably damaging Het
Zfp367 A G 13: 64,145,631 I147T probably damaging Het
Zfp952 T C 17: 33,003,008 S116P probably benign Het
Other mutations in Fut2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
X0066:Fut2 UTSW 7 45650374 missense probably damaging 0.99
Posted On2016-08-02