Incidental Mutation 'IGL01660:Fut8'
ID103144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fut8
Ensembl Gene ENSMUSG00000021065
Gene Namefucosyltransferase 8
Synonymsalpha (1,6) fucosyltransferase
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01660
Quality Score
Status
Chromosome12
Chromosomal Location77238125-77476338 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to G at 77450258 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 414 (L414*)
Ref Sequence ENSEMBL: ENSMUSP00000136327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062804] [ENSMUST00000171770] [ENSMUST00000177595]
Predicted Effect probably null
Transcript: ENSMUST00000062804
AA Change: L414*
SMART Domains Protein: ENSMUSP00000054530
Gene: ENSMUSG00000021065
AA Change: L414*

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
SH3 505 562 1.13e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000171770
AA Change: L414*
SMART Domains Protein: ENSMUSP00000130845
Gene: ENSMUSG00000021065
AA Change: L414*

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
SH3 505 562 1.13e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000177595
AA Change: L414*
SMART Domains Protein: ENSMUSP00000136327
Gene: ENSMUSG00000021065
AA Change: L414*

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
SH3 505 562 1.13e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218851
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219299
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
PHENOTYPE: Homozygous null mutation of this gene results in partial postnatal lethality, growth retardation, and progressive emphysema-like changes that include enlarged alveoli, increased lung capacity and compliance, and alveolar cell apoptosis. Postnatal survival is sensitive to genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik A T 19: 45,940,476 L393H probably damaging Het
Acta2 A G 19: 34,251,791 I66T probably damaging Het
Actl11 T C 9: 107,929,048 V190A probably benign Het
Ankub1 T A 3: 57,690,396 Y51F possibly damaging Het
Ccdc63 G A 5: 122,110,964 S434L possibly damaging Het
Cdan1 T A 2: 120,725,653 I711F possibly damaging Het
Cep170b C A 12: 112,744,160 N1474K probably damaging Het
Cyp2c40 A G 19: 39,786,810 S333P probably damaging Het
Dars A G 1: 128,415,344 probably benign Het
Dock3 T A 9: 107,032,364 probably benign Het
Dsp A G 13: 38,176,495 I359V possibly damaging Het
Gja1 A G 10: 56,388,448 Y301C probably damaging Het
Glipr1l1 T C 10: 112,072,279 S161P probably damaging Het
Gpat4 A T 8: 23,175,338 probably null Het
Grhl1 T A 12: 24,608,578 probably null Het
Hectd3 T C 4: 116,996,372 V181A possibly damaging Het
Htr2a T A 14: 74,705,754 I258N probably damaging Het
Hyou1 T A 9: 44,381,117 D83E possibly damaging Het
Myh10 T A 11: 68,785,889 L862Q probably benign Het
Nkx2-2 T C 2: 147,185,913 S36G probably benign Het
Nsun2 T A 13: 69,623,249 V326E probably benign Het
Nuak2 T C 1: 132,331,570 V362A probably benign Het
Nyap2 G A 1: 81,191,927 C133Y probably damaging Het
Oas2 T C 5: 120,741,223 T351A probably benign Het
Olfr1025-ps1 T C 2: 85,918,564 I213T probably benign Het
Olfr279 C T 15: 98,498,195 T241I probably damaging Het
Pde4d A T 13: 109,938,072 I404F probably damaging Het
Pga5 A G 19: 10,675,092 S95P probably damaging Het
Pitpnm2 A T 5: 124,123,194 D947E probably damaging Het
Pla2g10 C T 16: 13,728,086 R28H probably damaging Het
Prlr A G 15: 10,317,590 D84G probably damaging Het
Rbm15b C T 9: 106,885,709 G420D probably damaging Het
Tbcd A G 11: 121,605,327 T1063A probably benign Het
Tmc2 C T 2: 130,260,224 Q770* probably null Het
Tpo T C 12: 30,119,400 probably benign Het
Vim A G 2: 13,574,813 N128D probably damaging Het
Vmn1r21 A T 6: 57,844,237 I74N probably damaging Het
Vmn2r52 A C 7: 10,159,180 I677M probably damaging Het
Other mutations in Fut8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Fut8 APN 12 77448488 missense probably benign
IGL00841:Fut8 APN 12 77365321 missense probably benign
IGL02330:Fut8 APN 12 77450243 missense probably damaging 1.00
IGL02815:Fut8 APN 12 77365083 missense probably benign
IGL02836:Fut8 APN 12 77450213 missense probably benign 0.24
IGL02981:Fut8 APN 12 77475038 missense probably damaging 1.00
IGL03328:Fut8 APN 12 77365229 missense probably damaging 0.99
Seaweed UTSW 12 77475315 makesense probably null
R0001:Fut8 UTSW 12 77475315 makesense probably null
R0037:Fut8 UTSW 12 77365037 missense probably benign
R0115:Fut8 UTSW 12 77448560 missense probably damaging 1.00
R0334:Fut8 UTSW 12 77393762 missense possibly damaging 0.95
R0481:Fut8 UTSW 12 77448560 missense probably damaging 1.00
R0554:Fut8 UTSW 12 77364970 missense probably benign 0.00
R0671:Fut8 UTSW 12 77475017 missense probably damaging 1.00
R1491:Fut8 UTSW 12 77448674 missense possibly damaging 0.50
R1918:Fut8 UTSW 12 77332218 missense probably benign 0.25
R2336:Fut8 UTSW 12 77412956 splice site probably benign
R2975:Fut8 UTSW 12 77365013 missense probably benign 0.20
R3933:Fut8 UTSW 12 77475259 missense probably damaging 1.00
R4066:Fut8 UTSW 12 77464061 missense probably damaging 1.00
R4067:Fut8 UTSW 12 77464061 missense probably damaging 1.00
R4159:Fut8 UTSW 12 77393749 missense probably damaging 0.98
R4728:Fut8 UTSW 12 77475199 missense probably damaging 1.00
R4768:Fut8 UTSW 12 77365280 missense probably benign 0.12
R4831:Fut8 UTSW 12 77393829 missense probably damaging 0.99
R4914:Fut8 UTSW 12 77475044 missense probably damaging 1.00
R4915:Fut8 UTSW 12 77475044 missense probably damaging 1.00
R4917:Fut8 UTSW 12 77475044 missense probably damaging 1.00
R4918:Fut8 UTSW 12 77475044 missense probably damaging 1.00
R5143:Fut8 UTSW 12 77365209 missense probably benign 0.07
R5234:Fut8 UTSW 12 77332230 missense probably benign 0.12
R5973:Fut8 UTSW 12 77364997 missense probably benign
R6103:Fut8 UTSW 12 77331947 start gained probably benign
R7167:Fut8 UTSW 12 77448632 missense possibly damaging 0.94
R7498:Fut8 UTSW 12 77412934 missense probably benign 0.00
R7536:Fut8 UTSW 12 77475078 missense probably damaging 1.00
X0065:Fut8 UTSW 12 77448521 missense probably damaging 1.00
Posted On2014-01-21