Incidental Mutation 'IGL02976:Fut1'
ID406394
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fut1
Ensembl Gene ENSMUSG00000008461
Gene Namefucosyltransferase 1
SynonymsH transferase
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02976
Quality Score
Status
Chromosome7
Chromosomal Location45617289-45621059 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 45619320 bp
ZygosityHeterozygous
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]
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
1700019N19Rik A T 19: 58,789,120 V78E probably benign Het
9630041A04Rik A G 9: 101,939,646 T84A possibly damaging Het
Adgrd1 T A 5: 129,131,597 S288T probably benign Het
Ano7 T A 1: 93,402,673 D806E possibly damaging Het
Arl6 A G 16: 59,623,896 L79P probably damaging Het
Card6 A T 15: 5,099,828 C695* probably null Het
Carmil1 T C 13: 24,092,551 N610S possibly damaging Het
Cdc40 A G 10: 40,882,921 V52A probably benign Het
Chd4 G A 6: 125,121,368 R369H probably damaging Het
Clasp2 C T 9: 113,906,136 P1031L probably damaging Het
Cldn34d C T X: 76,583,084 A121T probably benign Het
Clmp A C 9: 40,781,224 Y263S possibly damaging Het
Cntn5 A G 9: 10,419,099 probably benign Het
Folh1 A T 7: 86,762,918 M215K probably benign Het
Gcdh A C 8: 84,888,578 Y398D probably damaging Het
Gm26741 T G 10: 52,358,814 S16R possibly damaging Het
Jph3 T A 8: 121,753,084 L167Q probably damaging Het
Jup A G 11: 100,378,366 V407A probably benign Het
Kif17 C T 4: 138,269,063 A117V probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Magi2 C T 5: 20,534,475 P349S probably damaging Het
Mlycd T C 8: 119,401,485 M177T possibly damaging Het
Mocos A G 18: 24,666,569 K287E possibly damaging Het
Morc2b T A 17: 33,137,523 H425L possibly damaging Het
Mrpl9 T A 3: 94,447,777 probably benign Het
Myo3a G A 2: 22,542,452 W825* probably null Het
Npas2 T C 1: 39,287,484 S17P probably damaging Het
Nrk A G X: 138,992,068 I1174V probably benign Het
Olfr1423 A T 19: 12,035,973 Y256* probably null Het
Olfr392 A G 11: 73,814,317 I255T probably damaging Het
Olfr730 G A 14: 50,186,432 Q262* probably null Het
Parpbp A G 10: 88,111,594 probably null Het
Pcdh10 T C 3: 45,380,013 V254A possibly damaging Het
Plod1 C T 4: 147,913,321 V644I probably damaging Het
Ptpn1 T C 2: 167,971,784 V149A probably benign Het
Rassf4 T C 6: 116,638,248 E320G probably damaging Het
Rgl2 T A 17: 33,933,962 D448E possibly damaging Het
Rnf32 C T 5: 29,206,712 probably null Het
Rpa1 T A 11: 75,312,802 D358V probably damaging Het
Sdk2 T C 11: 113,851,842 N747S probably damaging Het
Slc17a4 A C 13: 23,905,424 M170R probably damaging Het
Slc5a4a G A 10: 76,170,693 V310M possibly damaging Het
Spag9 G A 11: 94,083,953 R463H probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Syt10 A G 15: 89,814,479 S221P probably benign Het
Tlk1 T A 2: 70,721,591 K579* probably null Het
Tubgcp3 T C 8: 12,632,300 Y673C probably damaging Het
Vmn1r223 T C 13: 23,249,995 F253S probably damaging Het
Vmn2r83 T C 10: 79,468,998 M14T probably benign Het
Zfp59 A G 7: 27,853,396 D91G probably benign Het
Other mutations in Fut1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Fut1 APN 7 45619431 missense probably damaging 1.00
IGL02015:Fut1 APN 7 45618975 missense probably damaging 0.98
IGL02232:Fut1 APN 7 45619447 missense probably damaging 1.00
IGL02934:Fut1 APN 7 45618703 missense possibly damaging 0.49
IGL03091:Fut1 APN 7 45619527 missense probably damaging 1.00
IGL03169:Fut1 APN 7 45619033 missense probably benign 0.05
R0107:Fut1 UTSW 7 45618846 missense possibly damaging 0.50
R0107:Fut1 UTSW 7 45618846 missense possibly damaging 0.50
R1413:Fut1 UTSW 7 45619428 missense probably damaging 0.98
R2039:Fut1 UTSW 7 45618991 missense possibly damaging 0.62
R2403:Fut1 UTSW 7 45619219 missense probably benign 0.14
R2516:Fut1 UTSW 7 45619198 missense probably benign 0.03
R3429:Fut1 UTSW 7 45619374 missense probably damaging 1.00
R3430:Fut1 UTSW 7 45619374 missense probably damaging 1.00
R5775:Fut1 UTSW 7 45619462 missense probably damaging 1.00
R6244:Fut1 UTSW 7 45619306 missense possibly damaging 0.79
R6961:Fut1 UTSW 7 45619539 missense probably damaging 0.99
R7052:Fut1 UTSW 7 45619757 makesense probably null
R8027:Fut1 UTSW 7 45618865 missense probably damaging 1.00
Z1177:Fut1 UTSW 7 45619229 missense probably benign 0.00
Posted On2016-08-02