Incidental Mutation 'IGL01660:Fut8'
ID 103144
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 # IGL01660
Quality Score
Status
Chromosome 12
Chromosomal Location 77284899-77523112 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 77497032 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9WTS2
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
Acta2 A G 19: 34,229,191 (GRCm39) I66T probably damaging Het
Actl11 T C 9: 107,806,247 (GRCm39) V190A probably benign Het
Ankub1 T A 3: 57,597,817 (GRCm39) Y51F possibly damaging Het
Armh3 A T 19: 45,928,915 (GRCm39) L393H probably damaging Het
Ccdc63 G A 5: 122,249,027 (GRCm39) S434L possibly damaging Het
Cdan1 T A 2: 120,556,134 (GRCm39) I711F possibly damaging Het
Cep170b C A 12: 112,710,594 (GRCm39) N1474K probably damaging Het
Cyp2c40 A G 19: 39,775,254 (GRCm39) S333P probably damaging Het
Dars1 A G 1: 128,343,081 (GRCm39) probably benign Het
Dock3 T A 9: 106,909,563 (GRCm39) probably benign Het
Dsp A G 13: 38,360,471 (GRCm39) I359V possibly damaging Het
Gja1 A G 10: 56,264,544 (GRCm39) Y301C probably damaging Het
Glipr1l1 T C 10: 111,908,184 (GRCm39) S161P probably damaging Het
Gpat4 A T 8: 23,665,354 (GRCm39) probably null Het
Grhl1 T A 12: 24,658,577 (GRCm39) probably null Het
Hectd3 T C 4: 116,853,569 (GRCm39) V181A possibly damaging Het
Htr2a T A 14: 74,943,194 (GRCm39) I258N probably damaging Het
Hyou1 T A 9: 44,292,414 (GRCm39) D83E possibly damaging Het
Myh10 T A 11: 68,676,715 (GRCm39) L862Q probably benign Het
Nkx2-2 T C 2: 147,027,833 (GRCm39) S36G probably benign Het
Nsun2 T A 13: 69,771,368 (GRCm39) V326E probably benign Het
Nuak2 T C 1: 132,259,308 (GRCm39) V362A probably benign Het
Nyap2 G A 1: 81,169,642 (GRCm39) C133Y probably damaging Het
Oas2 T C 5: 120,879,288 (GRCm39) T351A probably benign Het
Or11m3 C T 15: 98,396,076 (GRCm39) T241I probably damaging Het
Or5m13 T C 2: 85,748,908 (GRCm39) I213T probably benign Het
Pde4d A T 13: 110,074,606 (GRCm39) I404F probably damaging Het
Pga5 A G 19: 10,652,456 (GRCm39) S95P probably damaging Het
Pitpnm2 A T 5: 124,261,257 (GRCm39) D947E probably damaging Het
Pla2g10 C T 16: 13,545,950 (GRCm39) R28H probably damaging Het
Prlr A G 15: 10,317,676 (GRCm39) D84G probably damaging Het
Rbm15b C T 9: 106,762,908 (GRCm39) G420D probably damaging Het
Tbcd A G 11: 121,496,153 (GRCm39) T1063A probably benign Het
Tmc2 C T 2: 130,102,144 (GRCm39) Q770* probably null Het
Tpo T C 12: 30,169,399 (GRCm39) probably benign Het
Vim A G 2: 13,579,624 (GRCm39) N128D probably damaging Het
Vmn1r21 A T 6: 57,821,222 (GRCm39) I74N probably damaging Het
Vmn2r52 A C 7: 9,893,107 (GRCm39) I677M 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
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
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 2014-01-21