Incidental Mutation 'IGL02330:Fut8'
ID 288639
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 # IGL02330
Quality Score
Status
Chromosome 12
Chromosomal Location 77284899-77523112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77497017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 409 (D409G)
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: D409G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054530
Gene: ENSMUSG00000021065
AA Change: D409G

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
SH3 505 562 1.13e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171770
AA Change: D409G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130845
Gene: ENSMUSG00000021065
AA Change: D409G

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
SH3 505 562 1.13e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000177595
AA Change: D409G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136327
Gene: ENSMUSG00000021065
AA Change: D409G

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A T 8: 56,325,398 (GRCm39) I352K probably benign Het
Atp8a1 T C 5: 67,970,520 (GRCm39) N73S probably damaging Het
Cilp T C 9: 65,181,804 (GRCm39) probably benign Het
Csf2rb2 C T 15: 78,169,328 (GRCm39) G500D possibly damaging Het
Cyp4a14 A C 4: 115,352,224 (GRCm39) probably benign Het
Dagla T G 19: 10,225,386 (GRCm39) D926A probably damaging Het
Ddr2 T A 1: 169,816,093 (GRCm39) Y538F probably damaging Het
Eng T A 2: 32,559,581 (GRCm39) probably null Het
Fbxo24 G T 5: 137,619,579 (GRCm39) L99M probably damaging Het
Fmn2 A G 1: 174,437,511 (GRCm39) S1161G probably benign Het
Foxp1 T C 6: 98,922,373 (GRCm39) N453D probably damaging Het
Hmces A G 6: 87,891,517 (GRCm39) H8R probably damaging Het
Ing3 T C 6: 21,952,120 (GRCm39) C44R probably benign Het
Itga1 T A 13: 115,148,740 (GRCm39) I294F probably damaging Het
Mov10l1 T A 15: 88,910,693 (GRCm39) S976T probably damaging Het
Myo15a A G 11: 60,367,987 (GRCm39) Y249C possibly damaging Het
Nop56 T C 2: 130,118,686 (GRCm39) S273P probably damaging Het
Or10a48 A T 7: 108,425,206 (GRCm39) probably benign Het
Or1j21 C T 2: 36,683,907 (GRCm39) H220Y probably benign Het
Otog C T 7: 45,937,493 (GRCm39) S1734F possibly damaging Het
Phc3 T G 3: 30,990,530 (GRCm39) E562D probably damaging Het
Ralb A T 1: 119,399,450 (GRCm39) C203S probably damaging Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Sf3b4 A T 3: 96,080,376 (GRCm39) T42S possibly damaging Het
Sgsm2 T C 11: 74,749,493 (GRCm39) T584A probably benign Het
Slco5a1 T C 1: 13,009,284 (GRCm39) K397R probably damaging Het
Trim30c A G 7: 104,032,165 (GRCm39) Y299H possibly damaging Het
Trip6 T C 5: 137,311,620 (GRCm39) D119G probably benign Het
Uap1 A T 1: 169,977,896 (GRCm39) I385N possibly damaging Het
Vmn1r123 T A 7: 20,896,969 (GRCm39) I287N probably damaging Het
Vwce T C 19: 10,624,165 (GRCm39) L352P possibly damaging Het
Xrn1 T A 9: 95,855,401 (GRCm39) Y260* probably null Het
Zfp738 T C 13: 67,819,550 (GRCm39) Y147C 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
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
IGL03328:Fut8 APN 12 77,412,003 (GRCm39) missense probably damaging 0.99
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 2015-04-16