Incidental Mutation 'R3430:Fut1'
ID 268065
Institutional Source Beutler Lab
Gene Symbol Fut1
Ensembl Gene ENSMUSG00000008461
Gene Name fucosyltransferase 1
Synonyms H transferase
MMRRC Submission 040648-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3430 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 45266862-45270483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45268798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 196 (F196L)
Ref Sequence ENSEMBL: ENSMUSP00000147274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008605] [ENSMUST00000033099] [ENSMUST00000033100] [ENSMUST00000209379] [ENSMUST00000210150]
AlphaFold O09160
Predicted Effect probably damaging
Transcript: ENSMUST00000008605
AA Change: F251L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000008605
Gene: ENSMUSG00000008461
AA Change: F251L

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: F196L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000210150
Meta Mutation Damage Score 0.8951 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (67/67)
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
Afap1l2 C A 19: 56,904,238 (GRCm39) R683L probably damaging Het
Ahnak A G 19: 8,984,322 (GRCm39) I1869V probably benign Het
Aoc1 A T 6: 48,883,010 (GRCm39) E295D probably benign Het
Arhgef19 T C 4: 140,984,111 (GRCm39) L777P probably benign Het
Atf7ip A G 6: 136,552,322 (GRCm39) probably benign Het
Bhmt T C 13: 93,763,855 (GRCm39) E62G probably damaging Het
Bpifa6 A G 2: 153,831,171 (GRCm39) I246V probably benign Het
Btbd10 T A 7: 112,951,016 (GRCm39) R25* probably null Het
Ccdc88a T A 11: 29,398,033 (GRCm39) D255E probably damaging Het
Chd7 T C 4: 8,844,517 (GRCm39) V1542A probably damaging Het
Cimip1 T C 2: 173,370,066 (GRCm39) Y114H possibly damaging Het
Col12a1 T A 9: 79,587,593 (GRCm39) T1183S probably benign Het
Col20a1 T A 2: 180,655,078 (GRCm39) L1145* probably null Het
Dchs1 A G 7: 105,405,711 (GRCm39) V2391A possibly damaging Het
Dgat2 A G 7: 98,806,300 (GRCm39) V299A probably benign Het
Dmxl2 T A 9: 54,384,745 (GRCm39) N94I possibly damaging Het
Dnah6 G A 6: 73,098,797 (GRCm39) S2034L possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Filip1 A T 9: 79,760,952 (GRCm39) M194K probably damaging Het
Gm10323 A C 13: 67,002,888 (GRCm39) W17G probably damaging Het
Grin3a C A 4: 49,792,534 (GRCm39) V400L probably benign Het
Htr3a T C 9: 48,818,688 (GRCm39) N82S probably benign Het
Il23r A C 6: 67,429,458 (GRCm39) S295A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lama5 T C 2: 179,838,110 (GRCm39) K869E probably benign Het
Lce1d A T 3: 92,593,037 (GRCm39) probably benign Het
Lkaaear1 T C 2: 181,339,324 (GRCm39) D42G probably benign Het
Mapk8ip2 A G 15: 89,341,485 (GRCm39) E232G possibly damaging Het
Marf1 A G 16: 13,958,041 (GRCm39) probably benign Het
Mpeg1 A T 19: 12,440,492 (GRCm39) H650L probably benign Het
Nfib T C 4: 82,416,532 (GRCm39) I168V possibly damaging Het
Or1e29 A T 11: 73,667,365 (GRCm39) S263T probably damaging Het
Or2b7 A T 13: 21,739,975 (GRCm39) C72* probably null Het
Or4c29 C T 2: 88,739,810 (GRCm39) R309Q probably benign Het
Or4e5 A G 14: 52,727,882 (GRCm39) F180L possibly damaging Het
Or8b3b A T 9: 38,584,435 (GRCm39) F102I probably damaging Het
Otx2 T A 14: 48,896,254 (GRCm39) K260M probably damaging Het
P2ry12 C T 3: 59,125,448 (GRCm39) D76N probably damaging Het
Parp3 A T 9: 106,351,922 (GRCm39) I150K probably damaging Het
Prex2 T G 1: 11,220,078 (GRCm39) I683S possibly damaging Het
Prss34 A T 17: 25,518,078 (GRCm39) K86I probably benign Het
Ptpn20 T A 14: 33,336,485 (GRCm39) V108D possibly damaging Het
Rlf A G 4: 121,007,729 (GRCm39) L417P probably benign Het
Rsad2 T C 12: 26,506,418 (GRCm39) M1V probably null Het
S1pr5 A G 9: 21,156,378 (GRCm39) V16A probably benign Het
Scn7a AT ATT 2: 66,531,239 (GRCm39) probably null Het
Serpinb3b A T 1: 107,082,425 (GRCm39) S280T probably benign Het
Sh3d21 A G 4: 126,056,625 (GRCm39) S66P probably benign Het
Sh3yl1 T C 12: 31,009,841 (GRCm39) S253P probably benign Het
Smarca2 A G 19: 26,668,749 (GRCm39) E916G probably damaging Het
Sptbn1 A G 11: 30,169,686 (GRCm39) I14T possibly damaging Het
Supt16 A T 14: 52,412,816 (GRCm39) M559K probably benign Het
Tas1r2 A G 4: 139,396,886 (GRCm39) T742A probably damaging Het
Tbc1d5 T C 17: 51,107,156 (GRCm39) K467E probably damaging Het
Tet3 A G 6: 83,380,401 (GRCm39) V589A probably damaging Het
Tmem131 A G 1: 36,847,902 (GRCm39) probably benign Het
Tmtc3 A G 10: 100,283,437 (GRCm39) F706S probably benign Het
Tsku T C 7: 98,001,746 (GRCm39) N195S probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r85 T A 10: 130,254,758 (GRCm39) H642L probably damaging Het
Zfc3h1 A G 10: 115,246,428 (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
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'- ATAACCATCTACGGGAAGGTGC -3'
(R):5'- TCTCCACCAGCTAAGTAGGCAG -3'

Sequencing Primer
(F):5'- AGGTGCCCAGTACCTGTTGAG -3'
(R):5'- CCAAAGGTGCCAATAGTCATG -3'
Posted On 2015-02-18