Incidental Mutation 'IGL00562:Fuca2'
ID277758
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fuca2
Ensembl Gene ENSMUSG00000019810
Gene Namefucosidase, alpha-L- 2, plasma
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.169) question?
Stock #IGL00562
Quality Score
Status
Chromosome10
Chromosomal Location13499540-13519035 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 13505907 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 188 (D188V)
Ref Sequence ENSEMBL: ENSMUSP00000113499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060212] [ENSMUST00000120549] [ENSMUST00000121465] [ENSMUST00000130865]
Predicted Effect probably damaging
Transcript: ENSMUST00000060212
AA Change: D188V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055519
Gene: ENSMUSG00000019810
AA Change: D188V

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
Alpha_L_fucos 27 407 1.53e-235 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120549
SMART Domains Protein: ENSMUSP00000114021
Gene: ENSMUSG00000019810

DomainStartEndE-ValueType
Alpha_L_fucos 1 95 1.15e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121465
AA Change: D188V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113499
Gene: ENSMUSG00000019810
AA Change: D188V

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
Alpha_L_fucos 27 407 1.53e-235 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150048
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166466
Meta Mutation Damage Score 0.28 question?
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 a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010]
PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T C 5: 24,997,621 probably benign Het
AU016765 C A 17: 64,519,882 noncoding transcript Het
Chaf1b T C 16: 93,900,191 probably benign Het
Clstn2 A G 9: 97,582,452 probably benign Het
Crip1 T A 12: 113,153,612 probably null Het
Cubn A G 2: 13,294,230 S3211P probably benign Het
Dlx6 C T 6: 6,865,143 R172W probably damaging Het
Fktn A T 4: 53,747,007 probably null Het
Focad T A 4: 88,348,809 M1019K unknown Het
Kcna3 A G 3: 107,036,730 D103G probably damaging Het
Mrpl19 A G 6: 81,965,872 V19A probably benign Het
Ndufb3 T A 1: 58,595,799 H103Q possibly damaging Het
Pkd1l3 T C 8: 109,656,147 V1675A possibly damaging Het
Ptger4 A T 15: 5,243,133 S2T probably benign Het
Saxo1 C T 4: 86,445,572 E225K probably damaging Het
Sftpb G T 6: 72,309,862 A228S probably benign Het
Slc22a29 T A 19: 8,161,629 T490S probably benign Het
Slc29a1 T C 17: 45,589,992 N50S probably damaging Het
Smc6 T A 12: 11,301,531 S854T probably benign Het
Smim23 T C 11: 32,821,893 T58A probably benign Het
Tas2r134 T C 2: 51,628,088 I193T possibly damaging Het
Thsd7a G T 6: 12,379,659 probably null Het
Trav13n-4 T G 14: 53,363,966 V64G possibly damaging Het
Trmt10a G A 3: 138,147,416 E13K probably damaging Het
Txndc11 T C 16: 11,104,632 S239G probably damaging Het
Vmn2r96 T A 17: 18,583,815 N442K probably benign Het
Vps13a C T 19: 16,734,714 probably null Het
Other mutations in Fuca2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00563:Fuca2 APN 10 13505907 missense probably damaging 0.99
IGL02935:Fuca2 APN 10 13507319 missense probably null 0.00
IGL02953:Fuca2 APN 10 13507429
R0366:Fuca2 UTSW 10 13505763 missense probably benign
R0543:Fuca2 UTSW 10 13503126 missense probably damaging 1.00
R0731:Fuca2 UTSW 10 13506027 missense probably benign 0.08
R1573:Fuca2 UTSW 10 13505843 missense possibly damaging 0.90
R1879:Fuca2 UTSW 10 13507256 missense possibly damaging 0.64
R2026:Fuca2 UTSW 10 13512647 missense probably damaging 0.97
R2030:Fuca2 UTSW 10 13506774 missense probably damaging 0.99
R2142:Fuca2 UTSW 10 13505865 missense probably damaging 1.00
R2883:Fuca2 UTSW 10 13505951 missense probably benign 0.01
R4462:Fuca2 UTSW 10 13503235 missense probably damaging 1.00
R4863:Fuca2 UTSW 10 13505907 missense probably damaging 0.99
R5466:Fuca2 UTSW 10 13512697 nonsense probably null
R5640:Fuca2 UTSW 10 13507430 splice site probably null
R6199:Fuca2 UTSW 10 13506039 missense probably damaging 0.96
Posted On2015-04-16