Incidental Mutation 'R7052:Fut1'
ID 547657
Institutional Source Beutler Lab
Gene Symbol Fut1
Ensembl Gene ENSMUSG00000008461
Gene Name fucosyltransferase 1
Synonyms H transferase
MMRRC Submission 045149-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7052 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 45266862-45270483 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 45269181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 323 (*323W)
Ref Sequence ENSEMBL: ENSMUSP00000147274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008605] [ENSMUST00000033099] [ENSMUST00000033100] [ENSMUST00000209379] [ENSMUST00000210150]
AlphaFold O09160
Predicted Effect probably null
Transcript: ENSMUST00000008605
AA Change: *378W
SMART Domains Protein: ENSMUSP00000008605
Gene: ENSMUSG00000008461
AA Change: *378W

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 null
Transcript: ENSMUST00000209379
AA Change: *323W
Predicted Effect probably benign
Transcript: ENSMUST00000210150
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (63/63)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C T 6: 142,604,261 (GRCm39) R658H probably benign Het
Als2cl C T 9: 110,727,151 (GRCm39) R906C probably damaging Het
Asb8 T C 15: 98,034,282 (GRCm39) H91R probably damaging Het
Atp8b3 C T 10: 80,355,858 (GRCm39) E1285K probably benign Het
Bves G A 10: 45,222,386 (GRCm39) R172H possibly damaging Het
C6 A T 15: 4,763,177 (GRCm39) N59I probably damaging Het
Capn15 A T 17: 26,180,724 (GRCm39) V782D probably damaging Het
Ccdc168 T A 1: 44,096,466 (GRCm39) Y1544F possibly damaging Het
Ccdc18 T C 5: 108,309,554 (GRCm39) L383S probably benign Het
Coro6 C A 11: 77,357,056 (GRCm39) N119K probably benign Het
Cps1 T A 1: 67,237,569 (GRCm39) D1023E probably damaging Het
Dctn1 T A 6: 83,172,262 (GRCm39) probably null Het
Ero1a T A 14: 45,544,040 (GRCm39) K55* probably null Het
Fam209 G A 2: 172,314,751 (GRCm39) G80D possibly damaging Het
Fam89b G A 19: 5,779,276 (GRCm39) R94C probably damaging Het
Garin2 C T 12: 78,766,176 (GRCm39) T315I probably benign Het
Gm47985 T A 1: 151,058,890 (GRCm39) F177Y possibly damaging Het
Gstm7 T A 3: 107,838,633 (GRCm39) D37V probably damaging Het
H2-Aa T A 17: 34,503,484 (GRCm39) S38C possibly damaging Het
Ighg2c T C 12: 113,252,343 (GRCm39) T70A Het
Ino80 A G 2: 119,257,068 (GRCm39) probably null Het
Irf8 C T 8: 121,466,581 (GRCm39) R9W probably damaging Het
Kcnt2 A G 1: 140,310,785 (GRCm39) N197S probably damaging Het
Kif11 T A 19: 37,373,040 (GRCm39) C86* probably null Het
Lonp1 A T 17: 56,933,549 (GRCm39) F109I probably benign Het
Mlkl G A 8: 112,046,074 (GRCm39) S312L possibly damaging Het
Mroh9 T A 1: 162,866,525 (GRCm39) Q706L possibly damaging Het
Mtmr7 T C 8: 41,008,874 (GRCm39) H315R possibly damaging Het
Myh7b G C 2: 155,456,053 (GRCm39) R146P probably damaging Het
Naip5 A G 13: 100,358,855 (GRCm39) Y794H probably benign Het
Nup153 A T 13: 46,840,949 (GRCm39) N886K probably benign Het
Nup205 A G 6: 35,192,077 (GRCm39) R1047G possibly damaging Het
Oog3 A T 4: 143,887,027 (GRCm39) L31Q probably damaging Het
Or5b123 T A 19: 13,596,990 (GRCm39) S155T probably benign Het
Or6c38 T C 10: 128,929,744 (GRCm39) Y33C probably damaging Het
Palmd T C 3: 116,717,012 (GRCm39) N495S probably benign Het
Patj A G 4: 98,565,497 (GRCm39) Q1070R probably benign Het
Pax1 G A 2: 147,207,824 (GRCm39) R232H probably damaging Het
Pcdhb1 A G 18: 37,399,582 (GRCm39) N511S probably damaging Het
Pigs C T 11: 78,232,211 (GRCm39) L448F probably damaging Het
Pih1d2 A G 9: 50,533,077 (GRCm39) Y235C probably damaging Het
Pkd2l2 T A 18: 34,558,212 (GRCm39) I297K possibly damaging Het
Pou2f1 C T 1: 165,742,684 (GRCm39) V82I possibly damaging Het
Pramel1 T C 4: 143,123,074 (GRCm39) L17P probably damaging Het
Riok1 C T 13: 38,220,991 (GRCm39) probably benign Het
Scg3 C A 9: 75,568,664 (GRCm39) E358* probably null Het
Siglec15 T C 18: 78,091,946 (GRCm39) E85G probably damaging Het
Snx20 T C 8: 89,356,606 (GRCm39) H70R probably benign Het
Spi1 T A 2: 90,943,685 (GRCm39) S76R probably damaging Het
Stat5a T C 11: 100,770,111 (GRCm39) S463P probably damaging Het
Svs5 A G 2: 164,080,126 (GRCm39) I13T unknown Het
Tmem132e T C 11: 82,328,189 (GRCm39) S406P probably damaging Het
Top1mt T C 15: 75,540,560 (GRCm39) N237S possibly damaging Het
Trav6d-4 G A 14: 52,991,053 (GRCm39) V30M possibly damaging Het
Trp73 A T 4: 154,149,140 (GRCm39) M217K probably damaging Het
Vmn1r58 A G 7: 5,414,134 (GRCm39) I32T probably benign Het
Vmn1r9 T C 6: 57,048,396 (GRCm39) M157T probably benign Het
Vmn2r100 C T 17: 19,751,556 (GRCm39) S533F possibly damaging Het
Vmn2r112 T A 17: 22,821,507 (GRCm39) M160K probably benign Het
Vps13d C A 4: 144,889,914 (GRCm39) A597S probably benign Het
Zfp27 AATCCGCTTGTGCA AA 7: 29,594,446 (GRCm39) 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
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
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'- AGACACGGTCTACCTTGCAAAC -3'
(R):5'- GCCCAGAGGTTCTAAGAAGAC -3'

Sequencing Primer
(F):5'- AACTTCACCCTGCCAGATTCGG -3'
(R):5'- TCGGAAGAGACTGTGGCTTAC -3'
Posted On 2019-05-13