Incidental Mutation 'R2403:Fut1'
ID 248818
Institutional Source Beutler Lab
Gene Symbol Fut1
Ensembl Gene ENSMUSG00000008461
Gene Name fucosyltransferase 1
Synonyms H transferase
MMRRC Submission 040369-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2403 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 45266862-45270483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45268643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 144 (Y144C)
Ref Sequence ENSEMBL: ENSMUSP00000147274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008605] [ENSMUST00000033099] [ENSMUST00000033100] [ENSMUST00000209379] [ENSMUST00000210150]
AlphaFold O09160
Predicted Effect probably benign
Transcript: ENSMUST00000008605
AA Change: Y199C

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000008605
Gene: ENSMUSG00000008461
AA Change: Y199C

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
AA Change: Y144C

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000210150
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.8%
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
Abca4 A G 3: 121,964,592 (GRCm39) E925G probably damaging Het
Abca9 T G 11: 110,006,280 (GRCm39) Q1275P probably benign Het
Adgrl1 T A 8: 84,657,870 (GRCm39) M492K probably benign Het
Ankrd50 T A 3: 38,537,234 (GRCm39) K3* probably null Het
Arl5b T C 2: 15,079,848 (GRCm39) S140P probably damaging Het
Armc1 T C 3: 19,211,840 (GRCm39) probably benign Het
Ascc1 T C 10: 59,840,663 (GRCm39) I8T probably benign Het
Bche A G 3: 73,608,805 (GRCm39) V207A probably damaging Het
Cacna2d3 A G 14: 28,627,259 (GRCm39) L1080P probably benign Het
Ceacam3 C A 7: 16,895,779 (GRCm39) A583D probably damaging Het
Cep290 C T 10: 100,373,299 (GRCm39) A1193V probably benign Het
Clcn1 T C 6: 42,290,046 (GRCm39) I827T probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col28a1 T C 6: 8,175,641 (GRCm39) D69G possibly damaging Het
Cts3 A G 13: 61,712,806 (GRCm39) W305R probably damaging Het
Dmwd T C 7: 18,815,084 (GRCm39) I578T possibly damaging Het
Dnmt3a G A 12: 3,949,883 (GRCm39) V559M probably damaging Het
Dysf T C 6: 84,016,549 (GRCm39) V70A possibly damaging Het
Eml6 A G 11: 29,752,434 (GRCm39) V993A probably benign Het
Etl4 T A 2: 20,812,117 (GRCm39) L1768* probably null Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fat3 T G 9: 15,881,167 (GRCm39) D3235A probably damaging Het
Fbxo36 T A 1: 84,877,823 (GRCm39) F162I probably damaging Het
Fgfrl1 T C 5: 108,852,897 (GRCm39) W200R probably damaging Het
Fsip2 T C 2: 82,811,064 (GRCm39) M2461T possibly damaging Het
Gprin3 G A 6: 59,331,134 (GRCm39) A391V probably benign Het
H2-Q4 A G 17: 35,598,973 (GRCm39) E81G probably damaging Het
Hacd3 A G 9: 64,908,311 (GRCm39) S162P probably damaging Het
Itga1 A T 13: 115,114,150 (GRCm39) H918Q probably benign Het
Lrp5 C A 19: 3,647,430 (GRCm39) D1271Y probably damaging Het
Lsm8 C T 6: 18,849,643 (GRCm39) T17I probably benign Het
Mup4 T A 4: 59,958,145 (GRCm39) D141V probably damaging Het
Nckap5 G A 1: 125,955,146 (GRCm39) H405Y probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or12k8 T C 2: 36,974,986 (GRCm39) Y258C probably benign Het
Ostf1 T C 19: 18,562,026 (GRCm39) K190R probably benign Het
Pnldc1 A T 17: 13,118,777 (GRCm39) V197E probably damaging Het
Ptprc A G 1: 138,016,270 (GRCm39) S531P probably damaging Het
Ryr3 C T 2: 112,516,973 (GRCm39) E3318K probably damaging Het
Scamp2 T C 9: 57,484,995 (GRCm39) V67A possibly damaging Het
Serpina3g C A 12: 104,207,421 (GRCm39) L195M probably damaging Het
Siglec1 G T 2: 130,916,395 (GRCm39) T1185N possibly damaging Het
Sycp2 G A 2: 178,045,528 (GRCm39) Q31* probably null Het
Tmprss15 T G 16: 78,854,578 (GRCm39) T277P probably damaging Het
Trim34b C T 7: 103,978,876 (GRCm39) S41L probably benign Het
Ttn T C 2: 76,557,705 (GRCm39) T21507A possibly damaging Het
Umad1 T C 6: 8,427,161 (GRCm39) V138A possibly damaging Het
Zfp523 A G 17: 28,414,183 (GRCm39) I72M probably damaging Het
Zfp655 C T 5: 145,181,356 (GRCm39) R405C probably benign Het
Zfp715 G A 7: 42,948,692 (GRCm39) R423C possibly damaging Het
Other mutations in Fut1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Fut1 APN 7 45,268,855 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACCTTGGCAGCACTTAGTCC -3'
(R):5'- GGATGTGTCAATGTTCTCCAAAC -3'

Sequencing Primer
(F):5'- GCACTTAGTCCTACATGACTGGATG -3'
(R):5'- CCATTGCTGGTGACCACAAAGATG -3'
Posted On 2014-11-11