Incidental Mutation 'IGL01949:Fuca1'
ID181018
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fuca1
Ensembl Gene ENSMUSG00000028673
Gene Namefucosidase, alpha-L- 1, tissue
Synonyms0610006A03Rik, Afuc, 9530055J05Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01949
Quality Score
Status
Chromosome4
Chromosomal Location135920735-135940311 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 135923109 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000095454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030434] [ENSMUST00000068830] [ENSMUST00000097843]
Predicted Effect probably benign
Transcript: ENSMUST00000030434
SMART Domains Protein: ENSMUSP00000030434
Gene: ENSMUSG00000028673

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Alpha_L_fucos 22 399 7.97e-234 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000068830
SMART Domains Protein: ENSMUSP00000069957
Gene: ENSMUSG00000062585

DomainStartEndE-ValueType
Pfam:7tm_1 50 299 1.8e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097843
SMART Domains Protein: ENSMUSP00000095454
Gene: ENSMUSG00000062585

DomainStartEndE-ValueType
Pfam:7tm_1 50 299 8e-37 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
PHENOTYPE: Strain differences are probably due to a structural variant in Fuca1. Strains A/J, BDP, LP, P, SEA/Gn and 129/J have high FUCA activity and high heat stability; C57BL/6, C3H/He, DBA/2, BALB/c and 22 other strains have low activity and low heat stability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,326,106 R1247L probably benign Het
Atp2a3 T A 11: 72,981,897 M757K probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
D430042O09Rik G A 7: 125,761,842 W108* probably null Het
Dusp5 T C 19: 53,537,473 I182T probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hap1 G T 11: 100,348,762 D610E probably damaging Het
Hoxa6 T A 6: 52,206,531 Y178F possibly damaging Het
Ighmbp2 A C 19: 3,265,538 D627E probably benign Het
Itgae T C 11: 73,118,184 I497T probably benign Het
Kbtbd3 A G 9: 4,331,066 D480G possibly damaging Het
Kmt2b A T 7: 30,577,161 probably null Het
Krt5 T A 15: 101,710,613 M278L probably benign Het
Krtap4-9 G A 11: 99,785,565 probably benign Het
Myl12a T C 17: 70,996,714 D56G probably benign Het
Olfr117 T C 17: 37,659,466 Y289C probably damaging Het
Pdgfra C A 5: 75,170,665 H310Q probably damaging Het
Pglyrp2 G T 17: 32,416,106 probably null Het
Polk C T 13: 96,483,538 S718N probably benign Het
Ppip5k1 T A 2: 121,337,860 H687L probably benign Het
Pram1 A T 17: 33,641,335 Q292L probably damaging Het
Prodh2 A G 7: 30,509,765 probably null Het
Rgs9 A T 11: 109,259,834 probably null Het
Stk-ps2 A G 1: 46,029,988 noncoding transcript Het
Svep1 C T 4: 58,176,006 G298R probably damaging Het
Troap T C 15: 99,081,221 S341P probably benign Het
Ugt3a2 T C 15: 9,335,729 F12S probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp236 G T 18: 82,624,396 T1123K probably damaging Het
Other mutations in Fuca1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Fuca1 APN 4 135925551 missense possibly damaging 0.87
IGL01767:Fuca1 APN 4 135939201 missense probably benign 0.02
IGL02220:Fuca1 APN 4 135939219 utr 3 prime probably benign
IGL02457:Fuca1 APN 4 135934762 missense probably benign 0.00
R0629:Fuca1 UTSW 4 135925644 missense possibly damaging 0.56
R2899:Fuca1 UTSW 4 135923012 nonsense probably null
R5025:Fuca1 UTSW 4 135932926 missense probably damaging 0.98
R5298:Fuca1 UTSW 4 135936926 nonsense probably null
R5416:Fuca1 UTSW 4 135922980 missense probably damaging 1.00
R5742:Fuca1 UTSW 4 135922975 missense probably damaging 1.00
R5821:Fuca1 UTSW 4 135922962 splice site probably null
R6127:Fuca1 UTSW 4 135934811 missense probably damaging 0.97
R6329:Fuca1 UTSW 4 135934826 missense probably damaging 1.00
R6819:Fuca1 UTSW 4 135932956 missense probably damaging 1.00
R7623:Fuca1 UTSW 4 135933094 missense probably benign 0.15
R7654:Fuca1 UTSW 4 135929921 missense probably damaging 1.00
X0025:Fuca1 UTSW 4 135933064 missense probably benign
Posted On2014-05-07