Incidental Mutation 'IGL03271:Fut2'
ID415248
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 #IGL03271
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 G T 13: 111,255,874 V248L probably benign Het
Actl6b T A 5: 137,565,984 I256N probably damaging Het
Agl G T 3: 116,779,127 T825K probably benign Het
Arid5b A T 10: 68,097,457 S629T possibly damaging Het
Atp13a2 T C 4: 141,000,397 I495T possibly damaging Het
Bcl6 G T 16: 23,970,006 H537Q probably benign Het
Cdh12 A G 15: 21,586,453 E786G probably benign Het
Cep290 T A 10: 100,537,801 N1307K probably benign Het
Cops3 A T 11: 59,833,063 N89K probably damaging Het
Cyp4a29 T C 4: 115,254,508 V494A probably damaging Het
Dlg1 A G 16: 31,857,892 H675R possibly damaging Het
Dnajc6 T A 4: 101,508,077 probably benign Het
Dock10 C A 1: 80,505,409 K2107N probably damaging Het
Dopey1 T A 9: 86,504,222 L382* probably null Het
Faxc A C 4: 21,948,757 K156N possibly damaging Het
Gapvd1 C A 2: 34,727,207 probably benign Het
Gfm1 T C 3: 67,474,743 Y717H probably damaging Het
Gm4884 A T 7: 41,043,275 T223S probably benign Het
Gstm3 C A 3: 107,966,197 V153F possibly damaging Het
H2-M10.5 G T 17: 36,773,351 L68F possibly damaging Het
Hmcn1 G T 1: 150,598,424 H4756N possibly damaging Het
Ift140 C A 17: 25,087,906 R872S probably damaging Het
Lars2 T A 9: 123,459,484 probably null Het
Ltbp4 A G 7: 27,329,815 V149A unknown Het
Mpp2 A T 11: 102,063,423 probably benign Het
Mybbp1a A G 11: 72,443,918 probably benign Het
Nxpe4 C A 9: 48,393,045 P144Q probably damaging Het
Olfr1341 T A 4: 118,709,785 I126N probably damaging Het
Olfr478 C T 7: 108,031,507 V279M probably damaging Het
Parp4 C A 14: 56,585,625 N67K probably benign Het
Pdk1 G T 2: 71,880,030 probably benign Het
Phip A T 9: 82,884,824 probably benign Het
Pls1 A G 9: 95,776,830 S202P probably benign Het
Pmpcb A G 5: 21,738,876 Y36C probably benign Het
Pole T C 5: 110,318,319 S1296P probably benign Het
Ptpn13 T C 5: 103,462,148 S4P probably damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sec61a2 A T 2: 5,882,934 L79* probably null Het
Slc2a5 T C 4: 150,135,583 L152P probably damaging Het
Smu1 C T 4: 40,738,408 G442D probably benign Het
Spag16 T A 1: 69,853,352 N97K probably benign Het
Spag6l C T 16: 16,780,728 D300N probably damaging Het
Sult3a1 A G 10: 33,864,001 T19A probably benign Het
Ttll6 A G 11: 96,156,687 H704R probably benign Het
Uba1 T A X: 20,675,717 D569E probably damaging Het
Umodl1 T A 17: 30,986,499 Y689* probably null Het
Unc80 A G 1: 66,695,603 probably benign Het
Utp15 C A 13: 98,253,694 V282F probably damaging Het
Vmn1r184 A G 7: 26,267,609 Y260C probably benign Het
Vmn1r69 A G 7: 10,580,669 V45A probably benign Het
Vmn2r4 C A 3: 64,398,429 R524L 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
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
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