Incidental Mutation 'R2516:Fut1'
ID 253788
Institutional Source Beutler Lab
Gene Symbol Fut1
Ensembl Gene ENSMUSG00000008461
Gene Name fucosyltransferase 1
Synonyms H transferase
MMRRC Submission 040420-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2516 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 45266862-45270483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 45268622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 192 (H192P)
Ref Sequence ENSEMBL: ENSMUSP00000008605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008605] [ENSMUST00000033099] [ENSMUST00000033100] [ENSMUST00000209379] [ENSMUST00000210150]
AlphaFold O09160
Predicted Effect probably benign
Transcript: ENSMUST00000008605
AA Change: H192P

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000008605
Gene: ENSMUSG00000008461
AA Change: H192P

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: H137P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000210150
Meta Mutation Damage Score 0.8316 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (65/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,159,673 (GRCm39) I6N possibly damaging Het
Aen T C 7: 78,555,616 (GRCm39) V188A probably damaging Het
Afg3l1 A G 8: 124,228,693 (GRCm39) E753G probably damaging Het
Alas1 G A 9: 106,115,859 (GRCm39) T385I probably damaging Het
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Ankrd65 A G 4: 155,875,868 (GRCm39) T30A possibly damaging Het
App T C 16: 84,775,117 (GRCm39) S582G probably damaging Het
Arfgef1 A T 1: 10,223,879 (GRCm39) V1473E possibly damaging Het
Arhgap21 G A 2: 20,859,809 (GRCm39) P1196S probably damaging Het
Arhgap24 A G 5: 103,039,776 (GRCm39) T238A probably benign Het
Atf7 T C 15: 102,437,439 (GRCm39) probably benign Het
Best1 G T 19: 9,970,675 (GRCm39) S55* probably null Het
Capn11 A G 17: 45,944,725 (GRCm39) V514A probably damaging Het
Cep104 T A 4: 154,073,603 (GRCm39) M52K probably damaging Het
Clca3a1 C T 3: 144,443,619 (GRCm39) probably null Het
Cyp3a25 T C 5: 145,939,837 (GRCm39) probably null Het
Dmxl2 G A 9: 54,307,378 (GRCm39) P2197S probably damaging Het
Drosha T C 15: 12,859,551 (GRCm39) probably null Het
Exosc9 A G 3: 36,617,311 (GRCm39) K355R probably benign Het
Gm572 T A 4: 148,748,841 (GRCm39) V166D possibly damaging Het
Gm9966 C T 7: 95,607,735 (GRCm39) P19S unknown Het
Gmds C T 13: 32,284,456 (GRCm39) V219I probably damaging Het
Gsn G A 2: 35,173,965 (GRCm39) E25K probably benign Het
Il4i1 T C 7: 44,489,315 (GRCm39) F368S probably damaging Het
Irak1bp1 T C 9: 82,712,373 (GRCm39) L98P probably damaging Het
Khdrbs3 T C 15: 68,896,544 (GRCm39) probably benign Het
Kndc1 T C 7: 139,501,738 (GRCm39) I925T probably damaging Het
Laptm4a T C 12: 8,988,151 (GRCm39) I296T probably benign Het
Lpl A T 8: 69,340,170 (GRCm39) H55L probably benign Het
Lrrk2 C A 15: 91,640,130 (GRCm39) N1558K probably benign Het
Mfsd2a A G 4: 122,844,280 (GRCm39) L289P probably damaging Het
Mmrn2 T A 14: 34,120,759 (GRCm39) M543K probably benign Het
Mnat1 T C 12: 73,228,550 (GRCm39) probably benign Het
Msto1 A T 3: 88,819,200 (GRCm39) probably null Het
Mtus1 A G 8: 41,535,776 (GRCm39) Y647H probably damaging Het
Nars1 A T 18: 64,638,087 (GRCm39) V289E probably damaging Het
Oit3 T A 10: 59,264,167 (GRCm39) K322N probably damaging Het
Oit3 G A 10: 59,277,507 (GRCm39) probably benign Het
Or4k1 T C 14: 50,377,440 (GRCm39) I219V probably benign Het
Or5b113 T A 19: 13,342,557 (GRCm39) C188* probably null Het
Or5m12 A G 2: 85,734,900 (GRCm39) I166T probably benign Het
Or6c211 G A 10: 129,506,155 (GRCm39) R78W probably damaging Het
Pecr A T 1: 72,316,469 (GRCm39) C79S probably damaging Het
Plekhn1 T C 4: 156,307,116 (GRCm39) D478G probably damaging Het
Pls1 A T 9: 95,658,616 (GRCm39) M264K probably benign Het
Ptprj C A 2: 90,305,340 (GRCm39) probably benign Het
Pygm A G 19: 6,447,631 (GRCm39) D646G probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Scn8a T C 15: 100,867,043 (GRCm39) V283A probably benign Het
Shisa5 T C 9: 108,885,575 (GRCm39) probably null Het
Slc10a4 A G 5: 73,165,848 (GRCm39) I246V possibly damaging Het
Slc1a1 A T 19: 28,870,312 (GRCm39) I104F probably benign Het
Slc22a8 A G 19: 8,587,559 (GRCm39) Y511C probably benign Het
Slc6a5 A G 7: 49,606,210 (GRCm39) N706S probably benign Het
Sos2 T C 12: 69,697,433 (GRCm39) K96E probably damaging Het
Stom G A 2: 35,205,977 (GRCm39) R251* probably null Het
Sycp1 T C 3: 102,752,382 (GRCm39) E800G probably benign Het
Tab2 G A 10: 7,783,245 (GRCm39) P679L probably damaging Het
Tiam2 G A 17: 3,503,657 (GRCm39) V945I probably damaging Het
Trpm5 G T 7: 142,628,254 (GRCm39) P1007Q probably damaging Het
Uchl1 T G 5: 66,839,956 (GRCm39) I139S probably damaging Het
Vmn1r232 A G 17: 21,134,288 (GRCm39) I104T possibly damaging Het
Vmn2r97 G A 17: 19,167,814 (GRCm39) M689I probably benign Het
Zc3h18 A T 8: 123,129,904 (GRCm39) probably benign Het
Zfhx4 C T 3: 5,468,418 (GRCm39) P2859S probably benign Het
Zfp456 T C 13: 67,510,491 (GRCm39) K99R 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
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'- ATGGTCGCCAAGCCTTCATC -3'
(R):5'- CATGGCTTGCTGGAGGTAAG -3'

Sequencing Primer
(F):5'- TTCATCCAACCTGAGATGCATG -3'
(R):5'- TGGAGGTAAGCTCGGTCAC -3'
Posted On 2014-12-04