Incidental Mutation 'IGL03385:Fut2'
ID420837
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 #IGL03385
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs9 A G 9: 22,643,748 T444A probably benign Het
Cdh7 A G 1: 110,065,786 T324A possibly damaging Het
Col14a1 C A 15: 55,410,204 T723K unknown Het
Col14a1 G A 15: 55,471,708 G1513S unknown Het
Col1a2 C A 6: 4,539,612 N1293K unknown Het
Ctdp1 T C 18: 80,449,918 D454G probably damaging Het
G3bp2 A G 5: 92,068,395 V94A probably damaging Het
Gm973 A G 1: 59,582,470 S590G probably benign Het
Gon4l A T 3: 88,907,543 T1940S probably benign Het
Itk G A 11: 46,331,861 Q594* probably null Het
Kcnc2 G A 10: 112,455,786 C293Y probably damaging Het
Krit1 A G 5: 3,807,452 I86V possibly damaging Het
Lyst T A 13: 13,656,980 L1663* probably null Het
Moxd2 T C 6: 40,879,018 T546A probably damaging Het
Myo7b G T 18: 31,989,577 Q717K probably benign Het
Olfr1368 A G 13: 21,142,487 V190A probably benign Het
Olfr435 T C 6: 43,201,980 V112A probably benign Het
Ostm1 A C 10: 42,698,144 N123H probably damaging Het
Pcdh10 A C 3: 45,381,512 S754R possibly damaging Het
Pomt2 A T 12: 87,116,556 L613Q probably damaging Het
Samd9l T A 6: 3,376,208 N351I probably damaging Het
Serpinb9 T C 13: 33,007,996 probably benign Het
Slc12a4 T A 8: 105,950,864 probably benign Het
Smgc T A 15: 91,841,978 H42Q possibly damaging Het
Tor1a A G 2: 30,963,727 V197A possibly damaging Het
Ttc4 A G 4: 106,668,200 S246P probably benign Het
Tti1 G A 2: 157,993,025 A1005V possibly damaging Het
Ugt3a2 A T 15: 9,338,738 I63F probably damaging 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
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
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