Incidental Mutation 'IGL00231:Fut8'
ID 2187
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 # IGL00231
Quality Score
Status
Chromosome 12
Chromosomal Location 77284899-77523112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77495262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 284 (K284R)
Ref Sequence ENSEMBL: ENSMUSP00000136327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062804] [ENSMUST00000171770] [ENSMUST00000177595]
AlphaFold Q9WTS2
Predicted Effect probably benign
Transcript: ENSMUST00000062804
AA Change: K284R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054530
Gene: ENSMUSG00000021065
AA Change: K284R

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
SH3 505 562 1.13e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171770
AA Change: K284R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130845
Gene: ENSMUSG00000021065
AA Change: K284R

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
SH3 505 562 1.13e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177595
AA Change: K284R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136327
Gene: ENSMUSG00000021065
AA Change: K284R

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
Adamtsl1 A G 4: 86,303,877 (GRCm39) T1346A probably benign Het
Ccdc102a T C 8: 95,638,266 (GRCm39) probably null Het
Cgrrf1 T C 14: 47,069,779 (GRCm39) F16S probably damaging Het
Clybl T C 14: 122,616,610 (GRCm39) probably benign Het
Cubn T C 2: 13,386,660 (GRCm39) E1535G possibly damaging Het
Dmrtc1b C A X: 101,757,233 (GRCm39) P226H probably benign Het
Dnah17 G A 11: 117,979,040 (GRCm39) A1784V possibly damaging Het
Dnajc24 A G 2: 105,832,348 (GRCm39) Y12H probably damaging Het
Drd1 T C 13: 54,207,486 (GRCm39) T236A probably benign Het
Ep400 A T 5: 110,835,707 (GRCm39) V1934D unknown Het
Flt1 A G 5: 147,517,110 (GRCm39) probably null Het
Hcn1 A G 13: 118,112,529 (GRCm39) E831G probably damaging Het
Inpp5j A T 11: 3,450,009 (GRCm39) probably benign Het
Insig2 A G 1: 121,233,676 (GRCm39) Y213H probably damaging Het
Kcnh4 G A 11: 100,647,821 (GRCm39) probably benign Het
Kifc2 T A 15: 76,551,662 (GRCm39) probably benign Het
Krt75 T C 15: 101,481,081 (GRCm39) E231G probably benign Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mfsd4b2 T A 10: 39,801,057 (GRCm39) probably benign Het
Micall2 T A 5: 139,703,311 (GRCm39) probably null Het
Or10ag2 A G 2: 87,248,910 (GRCm39) T173A possibly damaging Het
Or8s5 C T 15: 98,238,054 (GRCm39) S256N possibly damaging Het
Osbp2 C T 11: 3,676,561 (GRCm39) D287N possibly damaging Het
Plin1 A G 7: 79,376,408 (GRCm39) probably benign Het
Ppl T C 16: 4,907,409 (GRCm39) N962S probably benign Het
Psg25 C T 7: 18,260,106 (GRCm39) probably benign Het
Ptprt A T 2: 161,652,544 (GRCm39) D601E probably benign Het
S100a7l2 A G 3: 90,995,665 (GRCm39) M79T probably benign Het
Sbno2 C A 10: 79,900,340 (GRCm39) probably benign Het
Sntg2 T C 12: 30,326,720 (GRCm39) D147G probably benign Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Stam2 T A 2: 52,596,418 (GRCm39) I307F possibly damaging Het
Tbx21 T G 11: 96,989,749 (GRCm39) E481A probably damaging Het
Tsc2 G A 17: 24,827,081 (GRCm39) T876I probably damaging Het
Wdfy4 T C 14: 32,824,496 (GRCm39) I1308V possibly damaging Het
Wdr37 C T 13: 8,870,541 (GRCm39) V143I probably damaging Het
Wdr43 T G 17: 71,959,809 (GRCm39) Y550D probably damaging Het
Wnk4 A G 11: 101,159,574 (GRCm39) D593G possibly damaging Het
Other mutations in Fut8
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2011-12-09