Incidental Mutation 'IGL03071:Fut2'
ID 417522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fut2
Ensembl Gene ENSMUSG00000055978
Gene Name fucosyltransferase 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03071
Quality Score
Status
Chromosome 7
Chromosomal Location 45298015-45315818 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45300193 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9JL27
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: 41,278,104 (GRCm39) L165H probably benign Het
Ahnak T C 19: 8,989,282 (GRCm39) I3522T possibly damaging Het
Anks1 G A 17: 28,227,173 (GRCm39) A609T probably benign Het
Apaf1 T C 10: 90,833,117 (GRCm39) D1138G possibly damaging Het
Appl2 T C 10: 83,476,970 (GRCm39) probably null Het
Arhgef19 A T 4: 140,976,313 (GRCm39) I385F possibly damaging Het
Cby3 A G 11: 50,250,343 (GRCm39) D183G probably damaging Het
Ccdc134 G A 15: 82,018,826 (GRCm39) V119M possibly damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Clec2d T C 6: 129,160,165 (GRCm39) S60P probably benign Het
Cts6 A T 13: 61,350,064 (GRCm39) F6I probably damaging Het
Cyyr1 G A 16: 85,262,449 (GRCm39) H103Y probably damaging Het
Dop1a T A 9: 86,371,668 (GRCm39) S120T possibly damaging Het
Dot1l T C 10: 80,624,513 (GRCm39) S994P probably benign Het
Eya4 T G 10: 23,198,971 (GRCm39) D3A probably benign Het
Fhip2b A G 14: 70,823,649 (GRCm39) C574R probably damaging Het
Gria1 A T 11: 56,902,936 (GRCm39) probably null Het
Hectd1 T C 12: 51,815,957 (GRCm39) T1377A probably benign Het
Magi3 T G 3: 103,923,202 (GRCm39) K1172Q possibly damaging Het
Map3k1 A C 13: 111,892,059 (GRCm39) D1065E possibly damaging Het
Mindy4b-ps A T 3: 58,717,158 (GRCm39) V242D probably damaging Het
Mrgpra3 T C 7: 47,238,929 (GRCm39) probably benign Het
Mroh9 C A 1: 162,866,766 (GRCm39) G657C probably damaging Het
Ogfod1 T C 8: 94,784,395 (GRCm39) W318R probably damaging Het
Or10j5 A G 1: 172,784,502 (GRCm39) T47A probably benign Het
Pacsin3 G A 2: 91,090,837 (GRCm39) R48H probably damaging Het
Plcb1 A G 2: 135,229,722 (GRCm39) E1114G probably damaging Het
Prkdc T G 16: 15,617,848 (GRCm39) D3226E probably benign Het
Prl4a1 A T 13: 28,204,246 (GRCm39) E96V probably benign Het
Robo4 T C 9: 37,315,580 (GRCm39) probably benign Het
Scn7a G A 2: 66,530,291 (GRCm39) L685F possibly damaging Het
Spata1 A G 3: 146,181,089 (GRCm39) Y290H possibly damaging Het
Tex10 T C 4: 48,452,946 (GRCm39) D671G probably benign Het
Tifa T G 3: 127,590,728 (GRCm39) Y166* probably null Het
Tnfsf10 G A 3: 27,389,769 (GRCm39) D277N probably damaging Het
Tram1 A T 1: 13,649,998 (GRCm39) Y75* probably null Het
Vmn1r60 T A 7: 5,547,368 (GRCm39) N244I probably damaging Het
Xpo4 A G 14: 57,855,685 (GRCm39) I248T possibly damaging Het
Zc2hc1a A G 3: 7,589,182 (GRCm39) probably benign Het
Zfp386 T A 12: 116,022,760 (GRCm39) H124Q probably benign Het
Other mutations in Fut2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9097:Fut2 UTSW 7 45,300,375 (GRCm39) missense probably benign 0.01
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
Posted On 2016-08-02