Incidental Mutation 'R1413:Fut1'
ID 159692
Institutional Source Beutler Lab
Gene Symbol Fut1
Ensembl Gene ENSMUSG00000008461
Gene Name fucosyltransferase 1
Synonyms H transferase
MMRRC Submission 039469-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1413 (G1)
Quality Score 202
Status Not validated
Chromosome 7
Chromosomal Location 45266862-45270483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45268852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 269 (W269R)
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: W269R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000008605
Gene: ENSMUSG00000008461
AA Change: W269R

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: W214R

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209590
Predicted Effect probably benign
Transcript: ENSMUST00000210150
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 91.2%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,573,245 (GRCm39) N1051D possibly damaging Het
Abcc9 A G 6: 142,536,222 (GRCm39) V1504A probably damaging Het
Actr6 A T 10: 89,564,019 (GRCm39) Y84* probably null Het
Adgrl3 T C 5: 81,841,366 (GRCm39) Y816H probably damaging Het
Ahcyl2 T C 6: 29,768,586 (GRCm39) probably benign Het
Amd1 A T 10: 40,166,404 (GRCm39) C157* probably null Het
Ank1 G A 8: 23,609,393 (GRCm39) E1362K probably damaging Het
Atp10b A G 11: 43,121,391 (GRCm39) Q1018R probably benign Het
Atp1a2 G A 1: 172,106,911 (GRCm39) T803I probably damaging Het
Atr T G 9: 95,814,495 (GRCm39) L2064R probably damaging Het
Bmp3 T A 5: 99,020,264 (GRCm39) L229Q probably damaging Het
Ccl25 A G 8: 4,403,892 (GRCm39) *54W probably null Het
Cdc45 A T 16: 18,627,491 (GRCm39) N111K possibly damaging Het
Cfap61 T A 2: 145,805,363 (GRCm39) S154T probably benign Het
Cyp2c37 T A 19: 39,982,542 (GRCm39) S127T probably benign Het
Cyp4f40 T A 17: 32,892,913 (GRCm39) D309E probably benign Het
D6Ertd527e A G 6: 87,088,335 (GRCm39) D166G unknown Het
Dmbt1 T A 7: 130,651,944 (GRCm39) D395E probably damaging Het
Dnah5 A G 15: 28,370,555 (GRCm39) S2832G probably benign Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Fah T C 7: 84,242,420 (GRCm39) D296G probably damaging Het
Fam83g A G 11: 61,593,504 (GRCm39) N346S probably damaging Het
Fgl1 T A 8: 41,644,638 (GRCm39) T289S possibly damaging Het
Fmo1 A C 1: 162,661,431 (GRCm39) L284R probably damaging Het
Frem3 T A 8: 81,395,430 (GRCm39) M1819K probably benign Het
Fsip2 T A 2: 82,818,762 (GRCm39) L4832M possibly damaging Het
Ggnbp2 A G 11: 84,723,955 (GRCm39) Y638H probably damaging Het
Gp2 T A 7: 119,050,853 (GRCm39) I293F probably benign Het
Gpi1 T C 7: 33,929,580 (GRCm39) N20S probably benign Het
Gxylt1 C T 15: 93,152,273 (GRCm39) R222H probably damaging Het
Hemgn T C 4: 46,396,091 (GRCm39) K382E possibly damaging Het
Hook3 T A 8: 26,528,134 (GRCm39) E585D probably damaging Het
Irf6 G A 1: 192,851,613 (GRCm39) M401I probably benign Het
Jmjd1c A G 10: 67,085,529 (GRCm39) T2259A probably damaging Het
Lactb T A 9: 66,878,201 (GRCm39) R209S probably damaging Het
Lonp2 A G 8: 87,368,212 (GRCm39) D342G probably damaging Het
Mmachc T C 4: 116,563,194 (GRCm39) S54G probably damaging Het
Mpp7 C A 18: 7,350,977 (GRCm39) W573C probably damaging Het
Or13e8 T A 4: 43,697,011 (GRCm39) H54L possibly damaging Het
Or5w1b T A 2: 87,476,182 (GRCm39) Y95F probably benign Het
Or6b2b A T 1: 92,418,610 (GRCm39) I289N probably damaging Het
Pappa2 A T 1: 158,764,124 (GRCm39) D462E probably benign Het
Pcdh12 A T 18: 38,416,496 (GRCm39) F210I probably damaging Het
Ppp1r12c A G 7: 4,487,443 (GRCm39) probably null Het
Prkce T A 17: 86,803,446 (GRCm39) D448E possibly damaging Het
Ptprb C A 10: 116,175,584 (GRCm39) T1193K probably damaging Het
Qrfpr T A 3: 36,236,809 (GRCm39) E197D possibly damaging Het
Rusc2 T A 4: 43,416,568 (GRCm39) C625S probably benign Het
Shcbp1 T G 8: 4,791,968 (GRCm39) probably null Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spag5 T A 11: 78,196,143 (GRCm39) C449* probably null Het
Stpg3 T C 2: 25,103,862 (GRCm39) D158G probably damaging Het
Sycp2 T C 2: 177,989,590 (GRCm39) Y1423C probably benign Het
Tiprl C T 1: 165,043,359 (GRCm39) E256K possibly damaging Het
Tmem132c T A 5: 127,640,631 (GRCm39) V934D probably damaging Het
Topors A G 4: 40,261,982 (GRCm39) V434A probably benign Het
Usp11 A G X: 20,584,946 (GRCm39) Y731C probably damaging Het
Vmn2r58 T A 7: 41,513,387 (GRCm39) I419L probably benign Het
Wfs1 C A 5: 37,139,422 (GRCm39) R72L possibly damaging Het
Zan T C 5: 137,426,201 (GRCm39) D2525G unknown Het
Zfp280c A G X: 47,652,715 (GRCm39) V285A probably benign Het
Zfp511 T A 7: 139,617,528 (GRCm39) F177I probably damaging Het
Zfp964 A G 8: 70,115,720 (GRCm39) M107V unknown Het
Zmynd11 A G 13: 9,760,256 (GRCm39) Y122H probably 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
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
Predicted Primers PCR Primer
(F):5'- CATCTTCGGGAACAGATTCGTAGGG -3'
(R):5'- TGTCTCCACCAGCTAAGTAGGCAG -3'

Sequencing Primer
(F):5'- CGTAGGGAATTCACTCTGCATAAC -3'
(R):5'- CAGCTAAGTAGGCAGCCCAG -3'
Posted On 2014-03-14