Incidental Mutation 'IGL02934:Fut1'
ID 364204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fut1
Ensembl Gene ENSMUSG00000008461
Gene Name fucosyltransferase 1
Synonyms H transferase
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02934
Quality Score
Status
Chromosome 7
Chromosomal Location 45617289-45621059 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45618703 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 27 (H27R)
Ref Sequence ENSEMBL: ENSMUSP00000008605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008605] [ENSMUST00000033099] [ENSMUST00000033100] [ENSMUST00000209379] [ENSMUST00000210150]
AlphaFold O09160
Predicted Effect possibly damaging
Transcript: ENSMUST00000008605
AA Change: H27R

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000008605
Gene: ENSMUSG00000008461
AA Change: H27R

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
Pfam:Glyco_transf_11 39 355 3.1e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000033099
SMART Domains Protein: ENSMUSP00000033099
Gene: ENSMUSG00000030827

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
FGF 44 169 3.95e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000033100
SMART Domains Protein: ENSMUSP00000033100
Gene: ENSMUSG00000064158

DomainStartEndE-ValueType
low complexity region 7 13 N/A INTRINSIC
Pfam:IZUMO 21 166 2.6e-53 PFAM
IG 167 253 2.43e-2 SMART
transmembrane domain 320 342 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209379
Predicted Effect probably benign
Transcript: ENSMUST00000210150
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 required for 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 impairs development of the olfactory nerve and maturation of the glomerular layer of the main olfactory bulb. Alternative splicing results in multiple transcript variants which encode distinct isoforms. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous null mice are viable and healthy, lack alpha(1,2)fucose residues from the apical surface of pancreatic acinar glands and are deficient in epididymal cell surface alpha(1,2)fucosylated glycans but show normal male fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 122,162,359 (GRCm38) R716* probably null Het
Abca8a A T 11: 110,040,588 (GRCm38) N1246K probably damaging Het
Acadl A G 1: 66,836,975 (GRCm38) Y396H probably benign Het
Apol7c A T 15: 77,526,118 (GRCm38) S209R possibly damaging Het
Atp1a1 A T 3: 101,576,992 (GRCm38) C990* probably null Het
Cachd1 C T 4: 100,968,098 (GRCm38) S583L probably damaging Het
Cbfa2t3 T C 8: 122,647,758 (GRCm38) T48A probably benign Het
Ccdc138 G T 10: 58,573,580 (GRCm38) probably benign Het
Cenpe A G 3: 135,264,351 (GRCm38) E2231G probably damaging Het
Cog3 T C 14: 75,741,689 (GRCm38) I206V probably damaging Het
Cr2 A G 1: 195,154,325 (GRCm38) probably benign Het
Ctdspl2 T C 2: 121,979,009 (GRCm38) V147A probably damaging Het
Cyp4f13 A G 17: 32,929,871 (GRCm38) V300A probably damaging Het
Dkk3 A T 7: 112,150,747 (GRCm38) M72K probably damaging Het
Dock3 A T 9: 107,023,745 (GRCm38) F340L probably benign Het
Igkv4-80 A G 6: 69,016,856 (GRCm38) V17A probably benign Het
Igkv9-123 G A 6: 67,954,396 (GRCm38) P62L possibly damaging Het
Kmt2e T C 5: 23,497,884 (GRCm38) S1021P probably damaging Het
Krt13 A C 11: 100,119,084 (GRCm38) L320R probably damaging Het
Ldhal6b T C 17: 5,417,544 (GRCm38) T372A probably benign Het
Manba T C 3: 135,544,749 (GRCm38) V379A probably benign Het
Map1b C T 13: 99,435,131 (GRCm38) V361I probably benign Het
Map4k1 A G 7: 28,994,106 (GRCm38) S399G probably benign Het
Mff G A 1: 82,747,094 (GRCm38) R229H probably damaging Het
Naga T C 15: 82,330,200 (GRCm38) N370S possibly damaging Het
Ncor2 A T 5: 125,025,557 (GRCm38) M2045K probably benign Het
Nipal1 T C 5: 72,647,907 (GRCm38) L7P probably damaging Het
Olfr9 T A 10: 128,990,089 (GRCm38) M59K probably damaging Het
Pcmt1 A T 10: 7,640,727 (GRCm38) M187K probably benign Het
Perp A T 10: 18,855,772 (GRCm38) T160S probably damaging Het
Rapgef6 G A 11: 54,625,864 (GRCm38) D169N probably damaging Het
Sel1l G A 12: 91,809,936 (GRCm38) Q711* probably null Het
Sept5 T C 16: 18,629,831 (GRCm38) Y7C probably damaging Het
Spdya A T 17: 71,556,400 (GRCm38) N48I probably benign Het
Stard6 T A 18: 70,496,104 (GRCm38) probably benign Het
Sytl2 T C 7: 90,375,992 (GRCm38) V396A probably benign Het
Tcaf3 T G 6: 42,593,898 (GRCm38) M307L probably benign Het
Tdrd6 T C 17: 43,627,887 (GRCm38) N757D probably benign Het
Tgm1 T A 14: 55,709,989 (GRCm38) D305V probably damaging Het
Themis2 T A 4: 132,789,551 (GRCm38) M213L probably damaging Het
Tmem184c A G 8: 77,597,820 (GRCm38) V347A probably damaging Het
Tmem214 A G 5: 30,871,544 (GRCm38) E159G probably benign Het
Trim58 C T 11: 58,640,466 (GRCm38) probably benign Het
Tshz1 A T 18: 84,013,090 (GRCm38) S1064R probably damaging Het
Ubr2 C T 17: 46,957,340 (GRCm38) E983K possibly damaging Het
Vmn1r23 A T 6: 57,925,929 (GRCm38) I288N probably benign Het
Vmn2r97 T C 17: 18,929,685 (GRCm38) V445A probably benign Het
Whrn G A 4: 63,416,105 (GRCm38) T813M probably damaging Het
Xirp2 C T 2: 67,515,676 (GRCm38) H2754Y probably benign Het
Other mutations in Fut1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Fut1 APN 7 45,619,431 (GRCm38) missense probably damaging 1.00
IGL02015:Fut1 APN 7 45,618,975 (GRCm38) missense probably damaging 0.98
IGL02232:Fut1 APN 7 45,619,447 (GRCm38) missense probably damaging 1.00
IGL02976:Fut1 APN 7 45,619,320 (GRCm38) missense probably damaging 1.00
IGL03091:Fut1 APN 7 45,619,527 (GRCm38) missense probably damaging 1.00
IGL03169:Fut1 APN 7 45,619,033 (GRCm38) missense probably benign 0.05
R0107:Fut1 UTSW 7 45,618,846 (GRCm38) missense possibly damaging 0.50
R0107:Fut1 UTSW 7 45,618,846 (GRCm38) missense possibly damaging 0.50
R1413:Fut1 UTSW 7 45,619,428 (GRCm38) missense probably damaging 0.98
R2039:Fut1 UTSW 7 45,618,991 (GRCm38) missense possibly damaging 0.62
R2403:Fut1 UTSW 7 45,619,219 (GRCm38) missense probably benign 0.14
R2516:Fut1 UTSW 7 45,619,198 (GRCm38) missense probably benign 0.03
R3429:Fut1 UTSW 7 45,619,374 (GRCm38) missense probably damaging 1.00
R3430:Fut1 UTSW 7 45,619,374 (GRCm38) missense probably damaging 1.00
R5775:Fut1 UTSW 7 45,619,462 (GRCm38) missense probably damaging 1.00
R6244:Fut1 UTSW 7 45,619,306 (GRCm38) missense possibly damaging 0.79
R6961:Fut1 UTSW 7 45,619,539 (GRCm38) missense probably damaging 0.99
R7052:Fut1 UTSW 7 45,619,757 (GRCm38) makesense probably null
R8027:Fut1 UTSW 7 45,618,865 (GRCm38) missense probably damaging 1.00
Z1177:Fut1 UTSW 7 45,619,229 (GRCm38) missense probably benign 0.00
Posted On 2015-12-18