Incidental Mutation 'IGL03328:Fut8'
ID 416729
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fut8
Ensembl Gene ENSMUSG00000021065
Gene Name fucosyltransferase 8
Synonyms alpha (1,6) fucosyltransferase
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03328
Quality Score
Status
Chromosome 12
Chromosomal Location 77284899-77523112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77412003 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9WTS2
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
Acaca A T 11: 84,211,355 (GRCm39) M1556L probably benign Het
Aicda T G 6: 122,539,396 (GRCm39) D187E probably benign Het
Arfgap3 A C 15: 83,227,282 (GRCm39) F43L probably damaging Het
AW551984 T C 9: 39,508,412 (GRCm39) E368G probably damaging Het
Bbs4 T C 9: 59,251,401 (GRCm39) E33G probably damaging Het
Bcas1 T A 2: 170,208,316 (GRCm39) K437* probably null Het
Brwd1 A T 16: 95,803,925 (GRCm39) W2082R probably damaging Het
Card6 A T 15: 5,134,927 (GRCm39) probably benign Het
Cd200r4 A G 16: 44,653,882 (GRCm39) I226M possibly damaging Het
Cep57l1 T C 10: 41,619,148 (GRCm39) E73G probably damaging Het
Chaf1a T G 17: 56,370,374 (GRCm39) F613C probably damaging Het
Clybl G T 14: 122,639,406 (GRCm39) K323N probably damaging Het
Coa7 A G 4: 108,195,479 (GRCm39) D136G probably damaging Het
Col5a2 C A 1: 45,415,306 (GRCm39) V1478L possibly damaging Het
Ctnnd2 T C 15: 30,921,993 (GRCm39) probably benign Het
Cyp4f17 T G 17: 32,739,600 (GRCm39) M174R probably damaging Het
Dnah10 A T 5: 124,831,354 (GRCm39) D794V probably benign Het
Eapp A G 12: 54,738,878 (GRCm39) S87P probably benign Het
Efnb3 A G 11: 69,448,031 (GRCm39) I137T probably damaging Het
Eif4e T A 3: 138,259,488 (GRCm39) probably benign Het
Fam83b T A 9: 76,400,324 (GRCm39) I260L probably benign Het
Fras1 A G 5: 96,929,619 (GRCm39) T4008A probably damaging Het
Glt1d1 A C 5: 127,734,183 (GRCm39) D119A probably benign Het
Gm3727 T A 14: 7,261,685 (GRCm38) *206C probably null Het
Gmip G A 8: 70,264,261 (GRCm39) V174M possibly damaging Het
Gtf2ird1 A G 5: 134,417,983 (GRCm39) probably null Het
Haao C T 17: 84,154,078 (GRCm39) C23Y probably damaging Het
Hip1 A T 5: 135,453,728 (GRCm39) V400E probably damaging Het
Keg1 A G 19: 12,696,461 (GRCm39) N215S probably damaging Het
Lss T G 10: 76,376,785 (GRCm39) I334S probably damaging Het
Lyn A C 4: 3,745,327 (GRCm39) E77D probably benign Het
Myo3a A G 2: 22,468,210 (GRCm39) E1426G probably benign Het
Ncapg2 A G 12: 116,403,677 (GRCm39) E863G possibly damaging Het
Ncl T C 1: 86,280,319 (GRCm39) Y496C probably damaging Het
Nefm A T 14: 68,358,739 (GRCm39) S432T probably benign Het
Nipsnap1 A G 11: 4,834,096 (GRCm39) Y95C possibly damaging Het
Npc1l1 C A 11: 6,168,643 (GRCm39) E913* probably null Het
Nup205 T C 6: 35,209,349 (GRCm39) L1552P probably damaging Het
Or2t46 A G 11: 58,472,539 (GRCm39) N290D probably damaging Het
Or4c112 G T 2: 88,854,199 (GRCm39) Y49* probably null Het
Or52h7 T A 7: 104,213,677 (GRCm39) V83D probably damaging Het
Or7c70 C T 10: 78,683,201 (GRCm39) E183K probably benign Het
Osm A C 11: 4,188,426 (GRCm39) I18L unknown Het
Otoa T A 7: 120,710,217 (GRCm39) S254R probably damaging Het
Parp1 T C 1: 180,427,155 (GRCm39) probably benign Het
Pcdh17 A G 14: 84,770,551 (GRCm39) I1010V probably benign Het
Peli2 A T 14: 48,490,032 (GRCm39) probably null Het
Pkd1l3 T G 8: 110,388,738 (GRCm39) probably benign Het
Pkhd1 A G 1: 20,151,524 (GRCm39) probably benign Het
Polg2 A C 11: 106,659,163 (GRCm39) V450G probably benign Het
Potegl A T 2: 23,102,817 (GRCm39) Y185F possibly damaging Het
Ptpn13 A T 5: 103,664,214 (GRCm39) T401S probably benign Het
Rgs22 C T 15: 36,043,350 (GRCm39) probably null Het
Rttn T G 18: 89,061,152 (GRCm39) S1107A probably benign Het
Scn5a G T 9: 119,366,702 (GRCm39) N328K probably benign Het
Sned1 G A 1: 93,217,089 (GRCm39) A1325T probably benign Het
St8sia4 T A 1: 95,588,595 (GRCm39) E80V probably benign Het
Stard7 T C 2: 127,134,176 (GRCm39) probably benign Het
Suco G T 1: 161,647,990 (GRCm39) P1099T probably damaging Het
Syn2 G T 6: 115,251,221 (GRCm39) C459F probably damaging Het
Tas2r117 A C 6: 132,780,041 (GRCm39) I60L probably benign Het
Tomm70a T C 16: 56,965,150 (GRCm39) C445R probably damaging Het
Tpsab1 T A 17: 25,564,102 (GRCm39) D87V probably benign Het
Trgc4 A G 13: 19,536,416 (GRCm39) Y158C unknown Het
Trpm6 A T 19: 18,815,446 (GRCm39) E1177D possibly damaging Het
Vmn2r71 A T 7: 85,273,499 (GRCm39) D771V probably damaging Het
Vmn2r93 A T 17: 18,525,220 (GRCm39) T293S probably damaging Het
Other mutations in Fut8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Fut8 APN 12 77,495,262 (GRCm39) missense probably benign
IGL00841:Fut8 APN 12 77,412,095 (GRCm39) missense probably benign
IGL01660:Fut8 APN 12 77,497,032 (GRCm39) nonsense probably null
IGL02330:Fut8 APN 12 77,497,017 (GRCm39) missense probably damaging 1.00
IGL02815:Fut8 APN 12 77,411,857 (GRCm39) missense probably benign
IGL02836:Fut8 APN 12 77,496,987 (GRCm39) missense probably benign 0.24
IGL02981:Fut8 APN 12 77,521,812 (GRCm39) missense probably damaging 1.00
Seaweed UTSW 12 77,522,089 (GRCm39) makesense probably null
R0001:Fut8 UTSW 12 77,522,089 (GRCm39) makesense probably null
R0037:Fut8 UTSW 12 77,411,811 (GRCm39) missense probably benign
R0115:Fut8 UTSW 12 77,495,334 (GRCm39) missense probably damaging 1.00
R0334:Fut8 UTSW 12 77,440,536 (GRCm39) missense possibly damaging 0.95
R0481:Fut8 UTSW 12 77,495,334 (GRCm39) missense probably damaging 1.00
R0554:Fut8 UTSW 12 77,411,744 (GRCm39) missense probably benign 0.00
R0671:Fut8 UTSW 12 77,521,791 (GRCm39) missense probably damaging 1.00
R1491:Fut8 UTSW 12 77,495,448 (GRCm39) missense possibly damaging 0.50
R1918:Fut8 UTSW 12 77,378,992 (GRCm39) missense probably benign 0.25
R2336:Fut8 UTSW 12 77,459,730 (GRCm39) splice site probably benign
R2975:Fut8 UTSW 12 77,411,787 (GRCm39) missense probably benign 0.20
R3933:Fut8 UTSW 12 77,522,033 (GRCm39) missense probably damaging 1.00
R4066:Fut8 UTSW 12 77,510,835 (GRCm39) missense probably damaging 1.00
R4067:Fut8 UTSW 12 77,510,835 (GRCm39) missense probably damaging 1.00
R4159:Fut8 UTSW 12 77,440,523 (GRCm39) missense probably damaging 0.98
R4728:Fut8 UTSW 12 77,521,973 (GRCm39) missense probably damaging 1.00
R4768:Fut8 UTSW 12 77,412,054 (GRCm39) missense probably benign 0.12
R4831:Fut8 UTSW 12 77,440,603 (GRCm39) missense probably damaging 0.99
R4914:Fut8 UTSW 12 77,521,818 (GRCm39) missense probably damaging 1.00
R4915:Fut8 UTSW 12 77,521,818 (GRCm39) missense probably damaging 1.00
R4917:Fut8 UTSW 12 77,521,818 (GRCm39) missense probably damaging 1.00
R4918:Fut8 UTSW 12 77,521,818 (GRCm39) missense probably damaging 1.00
R5143:Fut8 UTSW 12 77,411,983 (GRCm39) missense probably benign 0.07
R5234:Fut8 UTSW 12 77,379,004 (GRCm39) missense probably benign 0.12
R5973:Fut8 UTSW 12 77,411,771 (GRCm39) missense probably benign
R6103:Fut8 UTSW 12 77,378,721 (GRCm39) start gained probably benign
R7167:Fut8 UTSW 12 77,495,406 (GRCm39) missense possibly damaging 0.94
R7498:Fut8 UTSW 12 77,459,708 (GRCm39) missense probably benign 0.00
R7536:Fut8 UTSW 12 77,521,852 (GRCm39) missense probably damaging 1.00
R9632:Fut8 UTSW 12 77,440,507 (GRCm39) missense probably benign 0.33
R9784:Fut8 UTSW 12 77,459,613 (GRCm39) missense probably damaging 1.00
X0065:Fut8 UTSW 12 77,495,295 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02