Incidental Mutation 'IGL03071:Fut2'
ID417522
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 #IGL03071
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T A 8: 40,825,067 L165H probably benign Het
Ahnak T C 19: 9,011,918 I3522T possibly damaging Het
Anks1 G A 17: 28,008,199 A609T probably benign Het
Apaf1 T C 10: 90,997,255 D1138G possibly damaging Het
Appl2 T C 10: 83,641,106 probably null Het
Arhgef19 A T 4: 141,249,002 I385F possibly damaging Het
Cby3 A G 11: 50,359,516 D183G probably damaging Het
Ccdc134 G A 15: 82,134,625 V119M possibly damaging Het
Ccdc180 G T 4: 45,903,840 probably benign Het
Clec2d T C 6: 129,183,202 S60P probably benign Het
Cts6 A T 13: 61,202,250 F6I probably damaging Het
Cyyr1 G A 16: 85,465,561 H103Y probably damaging Het
Dopey1 T A 9: 86,489,615 S120T possibly damaging Het
Dot1l T C 10: 80,788,679 S994P probably benign Het
Eya4 T G 10: 23,323,073 D3A probably benign Het
Fam160b2 A G 14: 70,586,209 C574R probably damaging Het
Gria1 A T 11: 57,012,110 probably null Het
Hectd1 T C 12: 51,769,174 T1377A probably benign Het
Magi3 T G 3: 104,015,886 K1172Q possibly damaging Het
Map3k1 A C 13: 111,755,525 D1065E possibly damaging Het
Mindy4b-ps A T 3: 58,809,737 V242D probably damaging Het
Mrgpra3 T C 7: 47,589,181 probably benign Het
Mroh9 C A 1: 163,039,197 G657C probably damaging Het
Ogfod1 T C 8: 94,057,767 W318R probably damaging Het
Olfr16 A G 1: 172,956,935 T47A probably benign Het
Pacsin3 G A 2: 91,260,492 R48H probably damaging Het
Plcb1 A G 2: 135,387,802 E1114G probably damaging Het
Prkdc T G 16: 15,799,984 D3226E probably benign Het
Prl4a1 A T 13: 28,020,263 E96V probably benign Het
Robo4 T C 9: 37,404,284 probably benign Het
Scn7a G A 2: 66,699,947 L685F possibly damaging Het
Spata1 A G 3: 146,475,334 Y290H possibly damaging Het
Tex10 T C 4: 48,452,946 D671G probably benign Het
Tifa T G 3: 127,797,079 Y166* probably null Het
Tnfsf10 G A 3: 27,335,620 D277N probably damaging Het
Tram1 A T 1: 13,579,774 Y75* probably null Het
Vmn1r60 T A 7: 5,544,369 N244I probably damaging Het
Xpo4 A G 14: 57,618,228 I248T possibly damaging Het
Zc2hc1a A G 3: 7,524,122 probably benign Het
Zfp386 T A 12: 116,059,140 H124Q 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
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
X0066:Fut2 UTSW 7 45650374 missense probably damaging 0.99
Posted On2016-08-02