Incidental Mutation 'IGL00434:Fut1'
ID 5252
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 # IGL00434
Quality Score
Status
Chromosome 7
Chromosomal Location 45266862-45270483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 45268855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 270 (C270G)
Ref Sequence ENSEMBL: ENSMUSP00000008605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008605] [ENSMUST00000033099] [ENSMUST00000033100] [ENSMUST00000209379] [ENSMUST00000210150]
AlphaFold O09160
Predicted Effect probably damaging
Transcript: ENSMUST00000008605
AA Change: C270G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008605
Gene: ENSMUSG00000008461
AA Change: C270G

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 damaging
Transcript: ENSMUST00000209379
AA Change: C215G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209590
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 T C 15: 96,269,181 (GRCm39) V1098A probably damaging Het
Bltp1 T C 3: 37,041,448 (GRCm39) F2609L probably damaging Het
Ccdc126 C T 6: 49,311,239 (GRCm39) probably benign Het
Cds2 T C 2: 132,135,271 (GRCm39) L54P probably damaging Het
Cdsn A T 17: 35,865,740 (GRCm39) S90C unknown Het
Clcn6 G T 4: 148,098,195 (GRCm39) D581E probably damaging Het
Clec4f T A 6: 83,630,198 (GRCm39) H120L possibly damaging Het
Col12a1 T C 9: 79,560,614 (GRCm39) T1838A probably benign Het
Col22a1 T C 15: 71,878,524 (GRCm39) D211G possibly damaging Het
Cpne8 T C 15: 90,381,261 (GRCm39) probably benign Het
Dgkk T A X: 6,772,697 (GRCm39) M462K probably benign Het
Dhx29 T A 13: 113,091,759 (GRCm39) H834Q probably benign Het
Esyt1 A G 10: 128,353,504 (GRCm39) Y578H possibly damaging Het
Fnip2 C A 3: 79,419,796 (GRCm39) probably benign Het
Ganab T A 19: 8,884,707 (GRCm39) V170D probably damaging Het
Gys1 T A 7: 45,094,256 (GRCm39) M364K possibly damaging Het
Ighv1-85 A C 12: 115,963,654 (GRCm39) C115W probably damaging Het
Igkv4-74 T G 6: 69,162,044 (GRCm39) T42P probably damaging Het
Jmjd4 A G 11: 59,341,321 (GRCm39) Y84C probably damaging Het
Kif11 A C 19: 37,399,857 (GRCm39) E781D possibly damaging Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Klf1 C T 8: 85,628,628 (GRCm39) P9S possibly damaging Het
Lrrn3 T C 12: 41,502,191 (GRCm39) probably benign Het
Ltbp4 C A 7: 27,028,230 (GRCm39) R309L probably damaging Het
Marchf10 T C 11: 105,293,014 (GRCm39) E131G possibly damaging Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mgme1 T A 2: 144,121,056 (GRCm39) probably benign Het
Nkiras2 G A 11: 100,515,808 (GRCm39) G45D probably damaging Het
Orc2 A T 1: 58,532,875 (GRCm39) D16E possibly damaging Het
Pcyox1l T C 18: 61,830,613 (GRCm39) T420A probably benign Het
Pira13 C A 7: 3,826,088 (GRCm39) G302C probably damaging Het
Pm20d1 A G 1: 131,741,738 (GRCm39) probably benign Het
Ppp1r3c T C 19: 36,711,503 (GRCm39) D89G probably damaging Het
Ppp2ca G A 11: 52,012,776 (GRCm39) R302H probably benign Het
Riok3 T C 18: 12,281,904 (GRCm39) V291A probably damaging Het
Rragd A G 4: 33,007,219 (GRCm39) probably benign Het
Scai C A 2: 38,998,406 (GRCm39) L174F probably damaging Het
Slc25a44 T C 3: 88,323,369 (GRCm39) I227V probably benign Het
Slc35f1 T C 10: 52,938,548 (GRCm39) L160P probably damaging Het
Slc38a1 A G 15: 96,483,504 (GRCm39) Y275H possibly damaging Het
Slco6b1 A G 1: 96,916,375 (GRCm39) noncoding transcript Het
Spag8 G T 4: 43,652,890 (GRCm39) C190* probably null Het
Tbr1 T C 2: 61,635,625 (GRCm39) F192L probably benign Het
Tti1 C T 2: 157,850,886 (GRCm39) E118K probably damaging Het
Tti1 T A 2: 157,850,885 (GRCm39) E118V probably damaging Het
Vcan G T 13: 89,852,821 (GRCm39) P713Q probably damaging Het
Vcf2 A T X: 149,181,395 (GRCm39) V132E possibly damaging Het
Wt1 G T 2: 104,974,486 (GRCm39) probably null Het
Xylt1 T A 7: 117,249,912 (GRCm39) I694N probably damaging Het
Zfp516 T A 18: 82,975,233 (GRCm39) M477K probably benign Het
Other mutations in Fut1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02015:Fut1 APN 7 45,268,399 (GRCm39) missense probably damaging 0.98
IGL02232:Fut1 APN 7 45,268,871 (GRCm39) missense probably damaging 1.00
IGL02934:Fut1 APN 7 45,268,127 (GRCm39) missense possibly damaging 0.49
IGL02976:Fut1 APN 7 45,268,744 (GRCm39) missense probably damaging 1.00
IGL03091:Fut1 APN 7 45,268,951 (GRCm39) missense probably damaging 1.00
IGL03169:Fut1 APN 7 45,268,457 (GRCm39) missense probably benign 0.05
R0107:Fut1 UTSW 7 45,268,270 (GRCm39) missense possibly damaging 0.50
R0107:Fut1 UTSW 7 45,268,270 (GRCm39) missense possibly damaging 0.50
R1413:Fut1 UTSW 7 45,268,852 (GRCm39) missense probably damaging 0.98
R2039:Fut1 UTSW 7 45,268,415 (GRCm39) missense possibly damaging 0.62
R2403:Fut1 UTSW 7 45,268,643 (GRCm39) missense probably benign 0.14
R2516:Fut1 UTSW 7 45,268,622 (GRCm39) missense probably benign 0.03
R3429:Fut1 UTSW 7 45,268,798 (GRCm39) missense probably damaging 1.00
R3430:Fut1 UTSW 7 45,268,798 (GRCm39) missense probably damaging 1.00
R5775:Fut1 UTSW 7 45,268,886 (GRCm39) missense probably damaging 1.00
R6244:Fut1 UTSW 7 45,268,730 (GRCm39) missense possibly damaging 0.79
R6961:Fut1 UTSW 7 45,268,963 (GRCm39) missense probably damaging 0.99
R7052:Fut1 UTSW 7 45,269,181 (GRCm39) makesense probably null
R8027:Fut1 UTSW 7 45,268,289 (GRCm39) missense probably damaging 1.00
Z1177:Fut1 UTSW 7 45,268,653 (GRCm39) missense probably benign 0.00
Posted On 2012-04-20