Incidental Mutation 'IGL02935:Fuca2'
ID 364287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fuca2
Ensembl Gene ENSMUSG00000019810
Gene Name fucosidase, alpha-L- 2, plasma
Synonyms 5530401P20Rik, 0610025O11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # IGL02935
Quality Score
Status
Chromosome 10
Chromosomal Location 13376314-13394779 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 13383063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 344 (E344K)
Ref Sequence ENSEMBL: ENSMUSP00000113499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060212] [ENSMUST00000120549] [ENSMUST00000121465]
AlphaFold Q99KR8
Predicted Effect probably null
Transcript: ENSMUST00000060212
AA Change: E344K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000055519
Gene: ENSMUSG00000019810
AA Change: E344K

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 null
Transcript: ENSMUST00000121465
AA Change: E344K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113499
Gene: ENSMUSG00000019810
AA Change: E344K

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
Alpha_L_fucos 27 407 1.53e-235 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150048
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166466
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik G A 13: 54,709,675 (GRCm39) P13L possibly damaging Het
A930016O22Rik A T 7: 19,154,338 (GRCm39) probably benign Het
Ajuba A G 14: 54,807,924 (GRCm39) F436S probably damaging Het
Bptf C A 11: 106,971,625 (GRCm39) A961S probably damaging Het
Brca1 A G 11: 101,380,693 (GRCm39) V1780A probably benign Het
Bub1 A G 2: 127,643,215 (GRCm39) L1043S probably damaging Het
Cngb3 T A 4: 19,425,491 (GRCm39) M433K possibly damaging Het
Col4a1 T C 8: 11,269,166 (GRCm39) D928G probably damaging Het
Colq G A 14: 31,257,591 (GRCm39) P259S probably damaging Het
Csmd1 T C 8: 16,273,348 (GRCm39) Y828C probably damaging Het
Dennd5a T C 7: 109,520,514 (GRCm39) R448G possibly damaging Het
Dip2c A G 13: 9,712,182 (GRCm39) D1435G probably damaging Het
Dst T A 1: 34,225,926 (GRCm39) L1188* probably null Het
Duox1 G T 2: 122,155,000 (GRCm39) G462C possibly damaging Het
Flcn A T 11: 59,686,062 (GRCm39) I402N possibly damaging Het
Golim4 T C 3: 75,802,299 (GRCm39) H331R possibly damaging Het
Grid1 A T 14: 34,544,515 (GRCm39) I29F possibly damaging Het
Hltf T A 3: 20,123,215 (GRCm39) F201Y probably damaging Het
Ipo8 A T 6: 148,691,339 (GRCm39) I677N probably benign Het
Meioc A G 11: 102,563,017 (GRCm39) T72A probably benign Het
Meox2 A T 12: 37,159,104 (GRCm39) H92L probably damaging Het
Mlec C A 5: 115,295,873 (GRCm39) R74L probably benign Het
Mrpl58 G A 11: 115,301,054 (GRCm39) probably benign Het
Mtch1 T C 17: 29,555,184 (GRCm39) D288G probably benign Het
Myo16 A G 8: 10,582,990 (GRCm39) E1090G probably benign Het
Nicn1 A G 9: 108,167,845 (GRCm39) N39S probably benign Het
Nlrp9c A G 7: 26,084,701 (GRCm39) S293P probably benign Het
Or2bd2 G A 7: 6,443,753 (GRCm39) V285M possibly damaging Het
Or51b4 T C 7: 103,530,871 (GRCm39) N193S probably damaging Het
Or5al1 G T 2: 85,990,714 (GRCm39) probably benign Het
Pcdh20 T A 14: 88,704,438 (GRCm39) probably benign Het
Peg3 C A 7: 6,714,128 (GRCm39) V365F probably damaging Het
Penk A G 4: 4,133,843 (GRCm39) F268S probably damaging Het
Pitrm1 T A 13: 6,603,300 (GRCm39) Y116N probably damaging Het
Prex1 C A 2: 166,412,265 (GRCm39) G389C probably damaging Het
Ptch2 C T 4: 116,971,967 (GRCm39) A1163V probably damaging Het
Rasgrp3 G A 17: 75,804,065 (GRCm39) V123I probably benign Het
Slc36a2 G T 11: 55,060,854 (GRCm39) N185K possibly damaging Het
Sox9 G T 11: 112,676,175 (GRCm39) G455C probably damaging Het
St6galnac1 G T 11: 116,660,171 (GRCm39) D47E probably benign Het
Taar5 A T 10: 23,847,415 (GRCm39) D271V probably damaging Het
Top3a A T 11: 60,653,354 (GRCm39) I85K possibly damaging Het
Ttll8 T A 15: 88,798,759 (GRCm39) M659L probably benign Het
Ythdc2 C T 18: 44,988,112 (GRCm39) R656C probably damaging Het
Other mutations in Fuca2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Fuca2 APN 10 13,381,651 (GRCm39) missense probably damaging 0.99
IGL00563:Fuca2 APN 10 13,381,651 (GRCm39) missense probably damaging 0.99
IGL02953:Fuca2 APN 10 13,383,173 (GRCm39) splice site probably benign
R0366:Fuca2 UTSW 10 13,381,507 (GRCm39) missense probably benign
R0543:Fuca2 UTSW 10 13,378,870 (GRCm39) missense probably damaging 1.00
R0731:Fuca2 UTSW 10 13,381,771 (GRCm39) missense probably benign 0.08
R1573:Fuca2 UTSW 10 13,381,587 (GRCm39) missense possibly damaging 0.90
R1879:Fuca2 UTSW 10 13,383,000 (GRCm39) missense possibly damaging 0.64
R2026:Fuca2 UTSW 10 13,388,391 (GRCm39) missense probably damaging 0.97
R2030:Fuca2 UTSW 10 13,382,518 (GRCm39) missense probably damaging 0.99
R2142:Fuca2 UTSW 10 13,381,609 (GRCm39) missense probably damaging 1.00
R2883:Fuca2 UTSW 10 13,381,695 (GRCm39) missense probably benign 0.01
R4462:Fuca2 UTSW 10 13,378,979 (GRCm39) missense probably damaging 1.00
R4863:Fuca2 UTSW 10 13,381,651 (GRCm39) missense probably damaging 0.99
R5466:Fuca2 UTSW 10 13,388,441 (GRCm39) nonsense probably null
R5640:Fuca2 UTSW 10 13,383,174 (GRCm39) splice site probably null
R6199:Fuca2 UTSW 10 13,381,783 (GRCm39) missense probably damaging 0.96
R7136:Fuca2 UTSW 10 13,381,665 (GRCm39) missense probably benign 0.27
R7555:Fuca2 UTSW 10 13,383,174 (GRCm39) splice site probably null
R8111:Fuca2 UTSW 10 13,390,545 (GRCm39) missense probably benign 0.02
R8266:Fuca2 UTSW 10 13,388,633 (GRCm39) intron probably benign
R9177:Fuca2 UTSW 10 13,390,563 (GRCm39) nonsense probably null
R9268:Fuca2 UTSW 10 13,390,563 (GRCm39) nonsense probably null
R9340:Fuca2 UTSW 10 13,382,518 (GRCm39) missense probably damaging 0.99
R9630:Fuca2 UTSW 10 13,378,820 (GRCm39) missense probably benign 0.01
Posted On 2015-12-18