Incidental Mutation 'IGL02976:Fut1'
ID 406394
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 # IGL02976
Quality Score
Status
Chromosome 7
Chromosomal Location 45266862-45270483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45268744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 233 (R233C)
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: R233C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000008605
Gene: ENSMUSG00000008461
AA Change: R233C

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: R178C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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
9630041A04Rik A G 9: 101,816,845 (GRCm39) T84A possibly damaging Het
Adgrd1 T A 5: 129,208,661 (GRCm39) S288T probably benign Het
Ano7 T A 1: 93,330,395 (GRCm39) D806E possibly damaging Het
Arl6 A G 16: 59,444,259 (GRCm39) L79P probably damaging Het
Card6 A T 15: 5,129,310 (GRCm39) C695* probably null Het
Carmil1 T C 13: 24,276,534 (GRCm39) N610S possibly damaging Het
Cdc40 A G 10: 40,758,917 (GRCm39) V52A probably benign Het
Chd4 G A 6: 125,098,331 (GRCm39) R369H probably damaging Het
Clasp2 C T 9: 113,735,204 (GRCm39) P1031L probably damaging Het
Cldn34d C T X: 75,626,690 (GRCm39) A121T probably benign Het
Clmp A C 9: 40,692,520 (GRCm39) Y263S possibly damaging Het
Cntn5 A G 9: 10,419,104 (GRCm39) probably benign Het
Folh1 A T 7: 86,412,126 (GRCm39) M215K probably benign Het
Gcdh A C 8: 85,615,207 (GRCm39) Y398D probably damaging Het
Gm26741 T G 10: 52,234,910 (GRCm39) S16R possibly damaging Het
Jph3 T A 8: 122,479,823 (GRCm39) L167Q probably damaging Het
Jup A G 11: 100,269,192 (GRCm39) V407A probably benign Het
Kif17 C T 4: 137,996,374 (GRCm39) A117V probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Magi2 C T 5: 20,739,473 (GRCm39) P349S probably damaging Het
Mlycd T C 8: 120,128,224 (GRCm39) M177T possibly damaging Het
Mocos A G 18: 24,799,626 (GRCm39) K287E possibly damaging Het
Morc2b T A 17: 33,356,497 (GRCm39) H425L possibly damaging Het
Mrpl9 T A 3: 94,355,084 (GRCm39) probably benign Het
Myo3a G A 2: 22,434,494 (GRCm39) W825* probably null Het
Npas2 T C 1: 39,326,565 (GRCm39) S17P probably damaging Het
Nrk A G X: 137,892,817 (GRCm39) I1174V probably benign Het
Or1e32 A G 11: 73,705,143 (GRCm39) I255T probably damaging Het
Or4d11 A T 19: 12,013,337 (GRCm39) Y256* probably null Het
Or4k2 G A 14: 50,423,889 (GRCm39) Q262* probably null Het
Parpbp A G 10: 87,947,456 (GRCm39) probably null Het
Pcdh10 T C 3: 45,334,448 (GRCm39) V254A possibly damaging Het
Plod1 C T 4: 147,997,778 (GRCm39) V644I probably damaging Het
Ptpn1 T C 2: 167,813,704 (GRCm39) V149A probably benign Het
Rassf4 T C 6: 116,615,209 (GRCm39) E320G probably damaging Het
Rgl2 T A 17: 34,152,936 (GRCm39) D448E possibly damaging Het
Rnf32 C T 5: 29,411,710 (GRCm39) probably null Het
Rpa1 T A 11: 75,203,628 (GRCm39) D358V probably damaging Het
Sdk2 T C 11: 113,742,668 (GRCm39) N747S probably damaging Het
Slc17a4 A C 13: 24,089,407 (GRCm39) M170R probably damaging Het
Slc5a4a G A 10: 76,006,527 (GRCm39) V310M possibly damaging Het
Spag9 G A 11: 93,974,779 (GRCm39) R463H probably benign Het
Spmip5 A T 19: 58,777,552 (GRCm39) V78E probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Syt10 A G 15: 89,698,682 (GRCm39) S221P probably benign Het
Tlk1 T A 2: 70,551,935 (GRCm39) K579* probably null Het
Tubgcp3 T C 8: 12,682,300 (GRCm39) Y673C probably damaging Het
Vmn1r223 T C 13: 23,434,165 (GRCm39) F253S probably damaging Het
Vmn2r83 T C 10: 79,304,832 (GRCm39) M14T probably benign Het
Zfp59 A G 7: 27,552,821 (GRCm39) D91G probably benign 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
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 2016-08-02