Incidental Mutation 'IGL02220:Fuca1'
List |< first << previous [record 17 of 52] next >> last >|
ID285130
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 #IGL02220
Quality Score
Status
Chromosome4
Chromosomal Location135920735-135940311 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) A to G at 135939219 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030434]
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 noncoding transcript
Transcript: ENSMUST00000142033
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153592
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,711,172 D460G probably damaging Het
Ankrd9 T C 12: 110,977,499 M1V probably null Het
Anks1 T C 17: 28,054,707 I977T probably damaging Het
Bcar1 T C 8: 111,711,207 D767G possibly damaging Het
Bcl6 A T 16: 23,974,891 I102N probably damaging Het
Cacna2d2 G A 9: 107,514,879 G473D probably damaging Het
Cdh23 G T 10: 60,305,124 H3148Q probably damaging Het
Col6a4 A G 9: 106,062,942 V1263A possibly damaging Het
Crtc2 T C 3: 90,259,148 probably benign Het
D130043K22Rik G A 13: 24,883,755 G825S possibly damaging Het
Dera T A 6: 137,780,817 probably null Het
Dnah17 G T 11: 118,072,967 Y2506* probably null Het
Enam T A 5: 88,504,559 L1309* probably null Het
Fbxo15 G A 18: 84,964,192 probably null Het
Fgfbp1 T C 5: 43,979,486 K155E probably damaging Het
Foxj2 C T 6: 122,838,581 probably benign Het
Gad1-ps T A 10: 99,445,322 noncoding transcript Het
H2-Eb2 C T 17: 34,325,687 probably benign Het
Insr A T 8: 3,159,578 F1168L probably damaging Het
Isx T A 8: 74,892,705 V175E possibly damaging Het
Kansl3 T C 1: 36,367,989 probably benign Het
Lin9 T C 1: 180,667,367 I218T probably damaging Het
Llgl2 C A 11: 115,845,379 A126D possibly damaging Het
Ltbp2 T C 12: 84,829,309 E488G possibly damaging Het
Maml3 A G 3: 51,690,218 V369A possibly damaging Het
Mthfsl A G 9: 88,715,655 I14T probably damaging Het
Myo3b A G 2: 70,289,579 probably benign Het
Nfkbil1 T C 17: 35,220,746 R264G possibly damaging Het
Olfr140 A G 2: 90,051,694 L210P probably damaging Het
Pde5a G T 3: 122,748,382 A174S probably benign Het
Plch1 A T 3: 63,698,961 I1173N probably damaging Het
Ppfia1 C A 7: 144,481,775 R1171L probably damaging Het
Prom1 T C 5: 44,014,789 D595G probably damaging Het
Ptprz1 T C 6: 23,042,743 probably benign Het
Samsn1 A G 16: 75,883,875 probably null Het
Sbno2 T A 10: 80,072,368 T66S probably benign Het
Serpina1c T A 12: 103,896,079 I326F probably damaging Het
Slc12a1 T C 2: 125,188,270 probably null Het
Slc18a2 A G 19: 59,276,556 E324G probably benign Het
Slc40a1 A T 1: 45,911,335 M319K probably damaging Het
Slc44a5 T C 3: 154,250,971 Y287H possibly damaging Het
Stx4a A G 7: 127,842,500 E63G possibly damaging Het
Sv2a T C 3: 96,190,716 F545S probably benign Het
Svop T C 5: 114,065,528 D65G probably benign Het
Tex30 A T 1: 44,087,022 S182R probably benign Het
Tmem121b T C 6: 120,492,337 D473G probably damaging Het
Tnfrsf19 C A 14: 60,973,492 probably benign Het
Tnrc6a T C 7: 123,170,456 S490P probably benign Het
Ubr4 A G 4: 139,388,435 T82A probably benign Het
Vps16 A G 2: 130,441,653 D589G possibly damaging Het
Zscan29 A C 2: 121,166,689 S184A 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
IGL01949:Fuca1 APN 4 135923109 unclassified probably benign
IGL02457:Fuca1 APN 4 135934762 missense probably benign 0.00
Bereitzt UTSW 4 135934803 nonsense probably null
decoration UTSW 4 135929921 missense probably damaging 1.00
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
R7921:Fuca1 UTSW 4 135929910 missense probably damaging 0.98
R8084:Fuca1 UTSW 4 135934803 nonsense probably null
X0025:Fuca1 UTSW 4 135933064 missense probably benign
Posted On2015-04-16