Incidental Mutation 'IGL00841:Fut8'
ID 10846
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 # IGL00841
Quality Score
Status
Chromosome 12
Chromosomal Location 77284899-77523112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77412095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 148 (H148Q)
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: H148Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054530
Gene: ENSMUSG00000021065
AA Change: H148Q

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
SH3 505 562 1.13e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171770
AA Change: H148Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130845
Gene: ENSMUSG00000021065
AA Change: H148Q

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
SH3 505 562 1.13e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177595
AA Change: H148Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136327
Gene: ENSMUSG00000021065
AA Change: H148Q

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankdd1b T C 13: 96,554,338 (GRCm39) probably benign Het
Arl2 C A 19: 6,185,999 (GRCm39) probably benign Het
Atp8b4 A G 2: 126,225,689 (GRCm39) S514P probably damaging Het
Ces1a G T 8: 93,766,164 (GRCm39) S150* probably null Het
Ces1g T A 8: 94,029,615 (GRCm39) D539V possibly damaging Het
Col24a1 A G 3: 145,068,064 (GRCm39) D752G probably damaging Het
Ctsd A C 7: 141,936,418 (GRCm39) S128A probably damaging Het
Dbt G A 3: 116,339,763 (GRCm39) G384S probably benign Het
Dscam G A 16: 96,621,077 (GRCm39) L544F probably damaging Het
Fry T A 5: 150,346,189 (GRCm39) I1566N probably benign Het
Ighv1-64 A T 12: 115,471,596 (GRCm39) M1K probably null Het
Ivd T C 2: 118,707,383 (GRCm39) V299A probably benign Het
Kcnab3 A G 11: 69,222,129 (GRCm39) I292V probably benign Het
Mfhas1 T A 8: 36,058,040 (GRCm39) N838K probably damaging Het
Prom1 A T 5: 44,220,458 (GRCm39) probably benign Het
Ros1 T G 10: 52,020,969 (GRCm39) T648P possibly damaging Het
Scel A T 14: 103,767,431 (GRCm39) Q30L probably benign Het
Skp2 A C 15: 9,139,574 (GRCm39) S40R probably benign Het
Tm9sf1 T A 14: 55,880,184 (GRCm39) K71M probably damaging Het
Vegfb A G 19: 6,963,846 (GRCm39) W38R probably damaging Het
Xpo1 T G 11: 23,235,094 (GRCm39) F588V probably damaging Het
Zfp990 C A 4: 145,264,438 (GRCm39) L479M probably damaging Het
Other mutations in Fut8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Fut8 APN 12 77,495,262 (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 2012-12-06