Incidental Mutation 'R8670:Fuca1'
ID 661089
Institutional Source Beutler Lab
Gene Symbol Fuca1
Ensembl Gene ENSMUSG00000028673
Gene Name fucosidase, alpha-L- 1, tissue
Synonyms 9530055J05Rik, 0610006A03Rik, Afuc
MMRRC Submission 068525-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8670 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 135648037-135667611 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 135650282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 118 (V118I)
Ref Sequence ENSEMBL: ENSMUSP00000030434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030434] [ENSMUST00000068830] [ENSMUST00000097843]
AlphaFold Q99LJ1
Predicted Effect possibly damaging
Transcript: ENSMUST00000030434
AA Change: V118I

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030434
Gene: ENSMUSG00000028673
AA Change: V118I

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.8%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,966,424 (GRCm39) L403Q probably damaging Het
Actl11 T C 9: 107,805,959 (GRCm39) F94S possibly damaging Het
Adam34 C T 8: 44,105,126 (GRCm39) C173Y possibly damaging Het
Ankrd24 C T 10: 81,465,526 (GRCm39) probably benign Het
Armh2 A G 13: 24,930,240 (GRCm39) E162G probably benign Het
Atp12a A T 14: 56,617,546 (GRCm39) D612V probably damaging Het
Cacna2d1 T C 5: 16,140,013 (GRCm39) M1T probably null Het
Ccdc178 T C 18: 22,230,719 (GRCm39) E384G possibly damaging Het
Cd82 T A 2: 93,250,905 (GRCm39) T212S probably benign Het
Cdk17 T A 10: 93,061,958 (GRCm39) L263* probably null Het
Cfap57 T G 4: 118,472,122 (GRCm39) I86L possibly damaging Het
Chd5 T C 4: 152,469,953 (GRCm39) M1842T possibly damaging Het
Clcn7 T C 17: 25,378,588 (GRCm39) F691S probably damaging Het
Cpvl A T 6: 53,951,780 (GRCm39) M1K probably null Het
Cym T C 3: 107,118,812 (GRCm39) probably null Het
Diaph3 T C 14: 86,893,835 (GRCm39) E1147G probably benign Het
Eif4g3 T G 4: 137,885,823 (GRCm39) probably null Het
Esp3 A G 17: 40,943,040 (GRCm39) D11G probably benign Het
Exoc1 A G 5: 76,717,505 (GRCm39) Y865C probably damaging Het
Flg2 A T 3: 93,108,791 (GRCm39) Q273L probably damaging Het
Gga3 T C 11: 115,478,542 (GRCm39) N417D probably benign Het
Il1rl1 A T 1: 40,480,559 (GRCm39) I63F probably damaging Het
Kif26b A G 1: 178,741,349 (GRCm39) Y785C probably damaging Het
Kif5b A C 18: 6,214,631 (GRCm39) S599A probably benign Het
Klhl22 T A 16: 17,594,327 (GRCm39) I152N probably damaging Het
Mex3c GC G 18: 73,722,776 (GRCm39) probably null Het
Muc21 T A 17: 35,932,540 (GRCm39) T549S unknown Het
Or52n2c A T 7: 104,574,419 (GRCm39) M184K probably damaging Het
Or8g2 A G 9: 39,821,719 (GRCm39) I207V probably benign Het
Orc3 A T 4: 34,572,529 (GRCm39) I633N probably damaging Het
Pclo G A 5: 14,732,061 (GRCm39) R3521H unknown Het
Plec A G 15: 76,061,726 (GRCm39) L2737P probably damaging Het
Prom1 T A 5: 44,159,186 (GRCm39) I813F probably benign Het
Prpf40b T A 15: 99,207,621 (GRCm39) M517K probably damaging Het
Rab8a TA TAA 8: 72,925,130 (GRCm39) probably null Het
Rnf213 T C 11: 119,349,563 (GRCm39) L3808P Het
Scnn1b A G 7: 121,498,472 (GRCm39) K4R probably benign Het
Siglec1 A G 2: 130,923,387 (GRCm39) S453P probably damaging Het
Sim1 A G 10: 50,784,849 (GRCm39) K165E probably damaging Het
Slc49a4 G T 16: 35,556,005 (GRCm39) Q152K possibly damaging Het
Slco1a7 G A 6: 141,711,468 (GRCm39) T81I possibly damaging Het
Smarce1 T C 11: 99,101,098 (GRCm39) T345A possibly damaging Het
Spty2d1 T C 7: 46,647,519 (GRCm39) N470S probably benign Het
Stab2 T A 10: 86,776,587 (GRCm39) D763V probably damaging Het
Tbl1xr1 A T 3: 22,245,164 (GRCm39) E171D probably damaging Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Tex15 T A 8: 34,064,746 (GRCm39) I1392K probably benign Het
Thada T C 17: 84,739,774 (GRCm39) E827G probably benign Het
Ttc3 A G 16: 94,191,067 (GRCm39) Y185C probably damaging Het
Vmn2r18 C A 5: 151,485,854 (GRCm39) D547Y probably damaging Het
Wdpcp T C 11: 21,645,196 (GRCm39) V208A probably benign Het
Zfp322a T A 13: 23,541,274 (GRCm39) Q156L possibly damaging Het
Zfp947 T C 17: 22,364,687 (GRCm39) D329G probably benign Het
Other mutations in Fuca1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Fuca1 APN 4 135,652,862 (GRCm39) missense possibly damaging 0.87
IGL01767:Fuca1 APN 4 135,666,512 (GRCm39) missense probably benign 0.02
IGL01949:Fuca1 APN 4 135,650,420 (GRCm39) unclassified probably benign
IGL02220:Fuca1 APN 4 135,666,530 (GRCm39) utr 3 prime probably benign
IGL02457:Fuca1 APN 4 135,662,073 (GRCm39) missense probably benign 0.00
Bereitzt UTSW 4 135,662,114 (GRCm39) nonsense probably null
decoration UTSW 4 135,657,232 (GRCm39) missense probably damaging 1.00
R0629:Fuca1 UTSW 4 135,652,955 (GRCm39) missense possibly damaging 0.56
R2899:Fuca1 UTSW 4 135,650,323 (GRCm39) nonsense probably null
R5025:Fuca1 UTSW 4 135,660,237 (GRCm39) missense probably damaging 0.98
R5298:Fuca1 UTSW 4 135,664,237 (GRCm39) nonsense probably null
R5416:Fuca1 UTSW 4 135,650,291 (GRCm39) missense probably damaging 1.00
R5742:Fuca1 UTSW 4 135,650,286 (GRCm39) missense probably damaging 1.00
R5821:Fuca1 UTSW 4 135,650,273 (GRCm39) splice site probably null
R6127:Fuca1 UTSW 4 135,662,122 (GRCm39) missense probably damaging 0.97
R6329:Fuca1 UTSW 4 135,662,137 (GRCm39) missense probably damaging 1.00
R6819:Fuca1 UTSW 4 135,660,267 (GRCm39) missense probably damaging 1.00
R7623:Fuca1 UTSW 4 135,660,405 (GRCm39) missense probably benign 0.15
R7654:Fuca1 UTSW 4 135,657,232 (GRCm39) missense probably damaging 1.00
R7921:Fuca1 UTSW 4 135,657,221 (GRCm39) missense probably damaging 0.98
R8084:Fuca1 UTSW 4 135,662,114 (GRCm39) nonsense probably null
R8754:Fuca1 UTSW 4 135,652,889 (GRCm39) missense probably damaging 0.99
R8833:Fuca1 UTSW 4 135,648,206 (GRCm39) missense probably damaging 1.00
X0025:Fuca1 UTSW 4 135,660,375 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCTTGAGTCATACCTGCACAG -3'
(R):5'- GCTCTCTGGCTAAATGACCC -3'

Sequencing Primer
(F):5'- CTGCACAGGGATAATTATCACTATAG -3'
(R):5'- TCTCTGGCTAAATGACCCTAGCAG -3'
Posted On 2021-03-08