Incidental Mutation 'IGL03213:Fut2'
ID 413365
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 # IGL03213
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 A T 2: 22,831,971 (GRCm39) D447E probably damaging Het
Aldh8a1 T C 10: 21,260,616 (GRCm39) V175A probably damaging Het
Aoc1l3 A G 6: 48,965,279 (GRCm39) D429G possibly damaging Het
Arap2 T A 5: 62,906,438 (GRCm39) T194S probably benign Het
Arih2 T C 9: 108,484,546 (GRCm39) T422A probably damaging Het
Arl5b T A 2: 15,074,676 (GRCm39) N52K probably damaging Het
Atg13 G A 2: 91,515,512 (GRCm39) H227Y probably damaging Het
Ccdc178 T C 18: 22,253,748 (GRCm39) T164A possibly damaging Het
Cep192 T C 18: 67,998,708 (GRCm39) V2074A probably damaging Het
Ces2c T C 8: 105,574,672 (GRCm39) I43T probably benign Het
Chrm3 G A 13: 9,928,220 (GRCm39) T272I probably benign Het
Cln8 A G 8: 14,944,845 (GRCm39) Y53C probably damaging Het
Cwc27 T A 13: 104,932,911 (GRCm39) probably benign Het
Cyp3a13 A T 5: 137,892,529 (GRCm39) probably benign Het
Dchs1 G T 7: 105,404,279 (GRCm39) N2754K probably damaging Het
Dclk1 A T 3: 55,387,805 (GRCm39) K84* probably null Het
Ednra T C 8: 78,446,848 (GRCm39) T77A probably benign Het
Epn2 T C 11: 61,410,510 (GRCm39) N553D probably damaging Het
Gm10784 T A 13: 50,099,310 (GRCm39) noncoding transcript Het
Gtf2e2 T C 8: 34,242,525 (GRCm39) F76L probably damaging Het
Hnrnpll A T 17: 80,341,527 (GRCm39) V504E probably damaging Het
Ifitm2 A G 7: 140,535,677 (GRCm39) V51A possibly damaging Het
Il16 C T 7: 83,295,708 (GRCm39) E456K probably damaging Het
Lmod2 A T 6: 24,603,615 (GRCm39) I197F possibly damaging Het
Lrrc14 T C 15: 76,597,983 (GRCm39) S238P possibly damaging Het
Map3k1 A G 13: 111,885,426 (GRCm39) probably benign Het
Phf11d C A 14: 59,586,797 (GRCm39) R210S probably benign Het
Pigu T C 2: 155,177,291 (GRCm39) N103S probably damaging Het
Rgsl1 A G 1: 153,701,587 (GRCm39) V289A probably benign Het
Rp1l1 T A 14: 64,265,864 (GRCm39) S483R probably damaging Het
Ryr2 A T 13: 11,739,273 (GRCm39) probably benign Het
Sema3c T G 5: 17,899,637 (GRCm39) probably benign Het
Septin4 G T 11: 87,458,184 (GRCm39) probably null Het
Sfmbt2 A G 2: 10,409,385 (GRCm39) Y110C probably damaging Het
Slc12a3 T C 8: 95,061,933 (GRCm39) V328A possibly damaging Het
Smarca2 G A 19: 26,601,375 (GRCm39) G31D probably damaging Het
Spmip1 G A 6: 29,471,792 (GRCm39) M89I probably damaging Het
Tenm2 T G 11: 35,914,157 (GRCm39) E2460A probably benign Het
Trim58 T A 11: 58,541,993 (GRCm39) W318R probably benign Het
Ube3a C T 7: 58,935,870 (GRCm39) Q585* probably null Het
Vmn2r17 T C 5: 109,582,256 (GRCm39) probably null Het
Zfp647 A G 15: 76,796,177 (GRCm39) V161A possibly damaging 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
IGL03071: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
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