Incidental Mutation 'IGL03328:Fut8'
ID416729
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 #IGL03328
Quality Score
Status
Chromosome12
Chromosomal Location77238125-77476338 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 77365229 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 118 (R118W)
Ref Sequence ENSEMBL: ENSMUSP00000136327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062804] [ENSMUST00000171770] [ENSMUST00000177595]
Predicted Effect probably damaging
Transcript: ENSMUST00000062804
AA Change: R118W

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054530
Gene: ENSMUSG00000021065
AA Change: R118W

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
SH3 505 562 1.13e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171770
AA Change: R118W

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130845
Gene: ENSMUSG00000021065
AA Change: R118W

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
SH3 505 562 1.13e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000177595
AA Change: R118W

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136327
Gene: ENSMUSG00000021065
AA Change: R118W

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
SH3 505 562 1.13e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217879
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931423N10Rik A T 2: 23,212,805 Y185F possibly damaging Het
Acaca A T 11: 84,320,529 M1556L probably benign Het
Aicda T G 6: 122,562,437 D187E probably benign Het
Arfgap3 A C 15: 83,343,081 F43L probably damaging Het
AW551984 T C 9: 39,597,116 E368G probably damaging Het
Bbs4 T C 9: 59,344,118 E33G probably damaging Het
Bcas1 T A 2: 170,366,396 K437* probably null Het
Brwd1 A T 16: 96,002,725 W2082R probably damaging Het
Card6 A T 15: 5,105,445 probably benign Het
Cd200r4 A G 16: 44,833,519 I226M possibly damaging Het
Cep57l1 T C 10: 41,743,152 E73G probably damaging Het
Chaf1a T G 17: 56,063,374 F613C probably damaging Het
Clybl G T 14: 122,401,994 K323N probably damaging Het
Coa7 A G 4: 108,338,282 D136G probably damaging Het
Col5a2 C A 1: 45,376,146 V1478L possibly damaging Het
Ctnnd2 T C 15: 30,921,847 probably benign Het
Cyp4f17 T G 17: 32,520,626 M174R probably damaging Het
Dnah10 A T 5: 124,754,290 D794V probably benign Het
Eapp A G 12: 54,692,093 S87P probably benign Het
Efnb3 A G 11: 69,557,205 I137T probably damaging Het
Eif4e T A 3: 138,553,727 probably benign Het
Fam83b T A 9: 76,493,042 I260L probably benign Het
Fras1 A G 5: 96,781,760 T4008A probably damaging Het
Glt1d1 A C 5: 127,657,119 D119A probably benign Het
Gm3727 T A 14: 7,261,685 *206C probably null Het
Gmip G A 8: 69,811,611 V174M possibly damaging Het
Gtf2ird1 A G 5: 134,389,129 probably null Het
Haao C T 17: 83,846,649 C23Y probably damaging Het
Hip1 A T 5: 135,424,874 V400E probably damaging Het
Keg1 A G 19: 12,719,097 N215S probably damaging Het
Lss T G 10: 76,540,951 I334S probably damaging Het
Lyn A C 4: 3,745,327 E77D probably benign Het
Myo3a A G 2: 22,578,198 E1426G probably benign Het
Ncapg2 A G 12: 116,440,057 E863G possibly damaging Het
Ncl T C 1: 86,352,597 Y496C probably damaging Het
Nefm A T 14: 68,121,290 S432T probably benign Het
Nipsnap1 A G 11: 4,884,096 Y95C possibly damaging Het
Npc1l1 C A 11: 6,218,643 E913* probably null Het
Nup205 T C 6: 35,232,414 L1552P probably damaging Het
Olfr1217 G T 2: 89,023,855 Y49* probably null Het
Olfr1356 C T 10: 78,847,367 E183K probably benign Het
Olfr325 A G 11: 58,581,713 N290D probably damaging Het
Olfr652 T A 7: 104,564,470 V83D probably damaging Het
Osm A C 11: 4,238,426 I18L unknown Het
Otoa T A 7: 121,110,994 S254R probably damaging Het
Parp1 T C 1: 180,599,590 probably benign Het
Pcdh17 A G 14: 84,533,111 I1010V probably benign Het
Peli2 A T 14: 48,252,575 probably null Het
Pkd1l3 T G 8: 109,662,106 probably benign Het
Pkhd1 A G 1: 20,081,300 probably benign Het
Polg2 A C 11: 106,768,337 V450G probably benign Het
Ptpn13 A T 5: 103,516,348 T401S probably benign Het
Rgs22 C T 15: 36,043,204 probably null Het
Rttn T G 18: 89,043,028 S1107A probably benign Het
Scn5a G T 9: 119,537,636 N328K probably benign Het
Sned1 G A 1: 93,289,367 A1325T probably benign Het
St8sia4 T A 1: 95,660,870 E80V probably benign Het
Stard7 T C 2: 127,292,256 probably benign Het
Suco G T 1: 161,820,421 P1099T probably damaging Het
Syn2 G T 6: 115,274,260 C459F probably damaging Het
Tas2r117 A C 6: 132,803,078 I60L probably benign Het
Tcrg-C4 A G 13: 19,352,246 Y158C unknown Het
Tomm70a T C 16: 57,144,787 C445R probably damaging Het
Tpsab1 T A 17: 25,345,128 D87V probably benign Het
Trpm6 A T 19: 18,838,082 E1177D possibly damaging Het
Vmn2r71 A T 7: 85,624,291 D771V probably damaging Het
Vmn2r93 A T 17: 18,304,958 T293S 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
IGL01660:Fut8 APN 12 77450258 nonsense probably null
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
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 On2016-08-02