Incidental Mutation 'IGL02934:Fut1'
ID364204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fut1
Ensembl Gene ENSMUSG00000008461
Gene Namefucosyltransferase 1
SynonymsH transferase
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02934
Quality Score
Status
Chromosome7
Chromosomal Location45617289-45621059 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45618703 bp
ZygosityHeterozygous
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]
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 R716* probably null Het
Abca8a A T 11: 110,040,588 N1246K probably damaging Het
Acadl A G 1: 66,836,975 Y396H probably benign Het
Apol7c A T 15: 77,526,118 S209R possibly damaging Het
Atp1a1 A T 3: 101,576,992 C990* probably null Het
Cachd1 C T 4: 100,968,098 S583L probably damaging Het
Cbfa2t3 T C 8: 122,647,758 T48A probably benign Het
Ccdc138 G T 10: 58,573,580 probably benign Het
Cenpe A G 3: 135,264,351 E2231G probably damaging Het
Cog3 T C 14: 75,741,689 I206V probably damaging Het
Cr2 A G 1: 195,154,325 probably benign Het
Ctdspl2 T C 2: 121,979,009 V147A probably damaging Het
Cyp4f13 A G 17: 32,929,871 V300A probably damaging Het
Dkk3 A T 7: 112,150,747 M72K probably damaging Het
Dock3 A T 9: 107,023,745 F340L probably benign Het
Igkv4-80 A G 6: 69,016,856 V17A probably benign Het
Igkv9-123 G A 6: 67,954,396 P62L possibly damaging Het
Kmt2e T C 5: 23,497,884 S1021P probably damaging Het
Krt13 A C 11: 100,119,084 L320R probably damaging Het
Ldhal6b T C 17: 5,417,544 T372A probably benign Het
Manba T C 3: 135,544,749 V379A probably benign Het
Map1b C T 13: 99,435,131 V361I probably benign Het
Map4k1 A G 7: 28,994,106 S399G probably benign Het
Mff G A 1: 82,747,094 R229H probably damaging Het
Naga T C 15: 82,330,200 N370S possibly damaging Het
Ncor2 A T 5: 125,025,557 M2045K probably benign Het
Nipal1 T C 5: 72,647,907 L7P probably damaging Het
Olfr9 T A 10: 128,990,089 M59K probably damaging Het
Pcmt1 A T 10: 7,640,727 M187K probably benign Het
Perp A T 10: 18,855,772 T160S probably damaging Het
Rapgef6 G A 11: 54,625,864 D169N probably damaging Het
Sel1l G A 12: 91,809,936 Q711* probably null Het
Sept5 T C 16: 18,629,831 Y7C probably damaging Het
Spdya A T 17: 71,556,400 N48I probably benign Het
Stard6 T A 18: 70,496,104 probably benign Het
Sytl2 T C 7: 90,375,992 V396A probably benign Het
Tcaf3 T G 6: 42,593,898 M307L probably benign Het
Tdrd6 T C 17: 43,627,887 N757D probably benign Het
Tgm1 T A 14: 55,709,989 D305V probably damaging Het
Themis2 T A 4: 132,789,551 M213L probably damaging Het
Tmem184c A G 8: 77,597,820 V347A probably damaging Het
Tmem214 A G 5: 30,871,544 E159G probably benign Het
Trim58 C T 11: 58,640,466 probably benign Het
Tshz1 A T 18: 84,013,090 S1064R probably damaging Het
Ubr2 C T 17: 46,957,340 E983K possibly damaging Het
Vmn1r23 A T 6: 57,925,929 I288N probably benign Het
Vmn2r97 T C 17: 18,929,685 V445A probably benign Het
Whrn G A 4: 63,416,105 T813M probably damaging Het
Xirp2 C T 2: 67,515,676 H2754Y probably benign Het
Other mutations in Fut1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Fut1 APN 7 45619431 missense probably damaging 1.00
IGL02015:Fut1 APN 7 45618975 missense probably damaging 0.98
IGL02232:Fut1 APN 7 45619447 missense probably damaging 1.00
IGL02976:Fut1 APN 7 45619320 missense probably damaging 1.00
IGL03091:Fut1 APN 7 45619527 missense probably damaging 1.00
IGL03169:Fut1 APN 7 45619033 missense probably benign 0.05
R0107:Fut1 UTSW 7 45618846 missense possibly damaging 0.50
R0107:Fut1 UTSW 7 45618846 missense possibly damaging 0.50
R1413:Fut1 UTSW 7 45619428 missense probably damaging 0.98
R2039:Fut1 UTSW 7 45618991 missense possibly damaging 0.62
R2403:Fut1 UTSW 7 45619219 missense probably benign 0.14
R2516:Fut1 UTSW 7 45619198 missense probably benign 0.03
R3429:Fut1 UTSW 7 45619374 missense probably damaging 1.00
R3430:Fut1 UTSW 7 45619374 missense probably damaging 1.00
R5775:Fut1 UTSW 7 45619462 missense probably damaging 1.00
R6244:Fut1 UTSW 7 45619306 missense possibly damaging 0.79
R6961:Fut1 UTSW 7 45619539 missense probably damaging 0.99
R7052:Fut1 UTSW 7 45619757 makesense probably null
R8027:Fut1 UTSW 7 45618865 missense probably damaging 1.00
Z1177:Fut1 UTSW 7 45619229 missense probably benign 0.00
Posted On2015-12-18