Incidental Mutation 'IGL01448:Glb1'
ID 84541
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glb1
Ensembl Gene ENSMUSG00000045594
Gene Name galactosidase, beta 1
Synonyms Bgl-s, Bgl, C130097A14Rik, Bge, Bgl-t, Bgl-e, Bgs, Bgt
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01448
Quality Score
Status
Chromosome 9
Chromosomal Location 114230146-114303447 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 114279745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063042] [ENSMUST00000217583]
AlphaFold P23780
Predicted Effect probably benign
Transcript: ENSMUST00000063042
SMART Domains Protein: ENSMUSP00000055803
Gene: ENSMUSG00000045594

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Glyco_hydro_35 41 358 2.5e-129 PFAM
Pfam:Glyco_hydro_42 56 216 9.4e-15 PFAM
Pfam:BetaGal_dom4_5 531 623 4.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217583
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a preproprotein that is proteolytically cleaved to yield a signal peptide and a proproptein that is subsequently processed to generate the active mature peptide. The encoded protein is a lysosomal enzyme that catalyzes the hydrolysis of terminal beta-D-galactose residues in various substrates like lactose, ganglioside GM1 and other glycoproteins. Mutations in the human gene are associated with GM1-gangliosidosis and Morquio B syndrome. Disruption of the mouse gene mirrors the symptoms of human gangliosidosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit progressive spastic diplegia, emaciation, and accumulation of ganglioside GM1 and asialo GM1 in brain tissue. Mutants die at 7-10 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,247,767 (GRCm39) E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,779 (GRCm39) probably benign Het
2610303G11Rik T A 9: 98,068,762 (GRCm39) noncoding transcript Het
4931414P19Rik T C 14: 54,823,417 (GRCm39) D320G possibly damaging Het
Adamts6 G A 13: 104,433,672 (GRCm39) E34K probably damaging Het
Alms1 T A 6: 85,654,881 (GRCm39) N3142K possibly damaging Het
Anapc7 G A 5: 122,566,276 (GRCm39) A62T probably damaging Het
Atp8b3 G A 10: 80,356,256 (GRCm39) P1152L probably benign Het
Cc2d2a C T 5: 43,841,527 (GRCm39) T181I possibly damaging Het
Celsr2 A G 3: 108,300,555 (GRCm39) L2835P probably damaging Het
Ctns A T 11: 73,079,548 (GRCm39) V99D possibly damaging Het
Dchs1 T C 7: 105,421,134 (GRCm39) R429G probably damaging Het
Ddx11 T C 17: 66,441,132 (GRCm39) V218A probably damaging Het
Eftud2 G A 11: 102,756,389 (GRCm39) probably benign Het
Erich1 G T 8: 14,128,853 (GRCm39) T29N possibly damaging Het
Exosc8 T C 3: 54,636,686 (GRCm39) E215G probably damaging Het
Fam184a G T 10: 53,575,045 (GRCm39) A188E probably benign Het
Fign A G 2: 63,810,032 (GRCm39) S413P probably damaging Het
Fkbp6 A G 5: 135,378,550 (GRCm39) S33P probably damaging Het
H2-Q1 T C 17: 35,542,437 (GRCm39) probably benign Het
Helz2 T C 2: 180,875,770 (GRCm39) T1575A probably damaging Het
Il18r1 A G 1: 40,513,890 (GRCm39) E32G probably damaging Het
Ints5 C T 19: 8,872,851 (GRCm39) P270L possibly damaging Het
Itga7 G T 10: 128,785,337 (GRCm39) E847* probably null Het
Kcns3 A C 12: 11,141,644 (GRCm39) S352A possibly damaging Het
Kiz A G 2: 146,705,721 (GRCm39) K94E probably benign Het
Lin7b C T 7: 45,018,624 (GRCm39) V12M probably damaging Het
Myo18b A T 5: 112,959,570 (GRCm39) I1409N probably damaging Het
Myo5b A G 18: 74,777,161 (GRCm39) H407R probably damaging Het
Nelfa T C 5: 34,056,146 (GRCm39) T506A probably damaging Het
Or10p21 A G 10: 128,847,729 (GRCm39) T192A probably damaging Het
Or4d5 A T 9: 40,012,378 (GRCm39) M136K probably damaging Het
Or5p72 T A 7: 108,022,235 (GRCm39) Y152* probably null Het
Or6c69 A G 10: 129,748,114 (GRCm39) I11T possibly damaging Het
Pclo A C 5: 14,726,408 (GRCm39) probably benign Het
Pes1 G A 11: 3,927,979 (GRCm39) E544K possibly damaging Het
Rabgap1l A G 1: 160,568,315 (GRCm39) probably benign Het
Rapgef2 T C 3: 78,976,244 (GRCm39) M1521V probably benign Het
Rapgef2 C T 3: 79,011,269 (GRCm39) probably null Het
Reln A G 5: 22,245,403 (GRCm39) V735A probably benign Het
Slc2a4 A G 11: 69,835,902 (GRCm39) S316P possibly damaging Het
Smarce1 C T 11: 99,101,013 (GRCm39) G373E possibly damaging Het
Spata31d1a T A 13: 59,849,373 (GRCm39) R918S probably benign Het
St3gal4 T C 9: 34,963,627 (GRCm39) K227R probably benign Het
Stra6l T A 4: 45,864,864 (GRCm39) probably null Het
Stxbp5l T C 16: 37,036,341 (GRCm39) I425V probably damaging Het
Tcaf2 T C 6: 42,607,262 (GRCm39) T231A probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tnks A G 8: 35,307,136 (GRCm39) Y1138H probably damaging Het
Vezt T A 10: 93,832,719 (GRCm39) I231F probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Zbed3 A G 13: 95,473,142 (GRCm39) K189E possibly damaging Het
Zfp512b T C 2: 181,229,578 (GRCm39) T625A possibly damaging Het
Zfp827 A T 8: 79,787,362 (GRCm39) Q176L possibly damaging Het
Other mutations in Glb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01649:Glb1 APN 9 114,253,016 (GRCm39) missense probably damaging 1.00
IGL01720:Glb1 APN 9 114,249,573 (GRCm39) critical splice donor site probably null
IGL02199:Glb1 APN 9 114,303,015 (GRCm39) missense probably benign 0.06
IGL02613:Glb1 APN 9 114,293,130 (GRCm39) missense possibly damaging 0.91
IGL03392:Glb1 APN 9 114,259,389 (GRCm39) missense probably damaging 1.00
R0463:Glb1 UTSW 9 114,250,812 (GRCm39) frame shift probably null
R0518:Glb1 UTSW 9 114,250,812 (GRCm39) frame shift probably null
R0519:Glb1 UTSW 9 114,250,812 (GRCm39) frame shift probably null
R0520:Glb1 UTSW 9 114,250,812 (GRCm39) frame shift probably null
R1387:Glb1 UTSW 9 114,249,431 (GRCm39) missense probably damaging 1.00
R1499:Glb1 UTSW 9 114,246,171 (GRCm39) missense probably benign 0.04
R1898:Glb1 UTSW 9 114,253,103 (GRCm39) missense probably damaging 1.00
R2143:Glb1 UTSW 9 114,266,892 (GRCm39) missense probably damaging 1.00
R2145:Glb1 UTSW 9 114,293,233 (GRCm39) missense probably benign 0.00
R2146:Glb1 UTSW 9 114,279,716 (GRCm39) missense probably damaging 1.00
R2148:Glb1 UTSW 9 114,279,716 (GRCm39) missense probably damaging 1.00
R2149:Glb1 UTSW 9 114,279,716 (GRCm39) missense probably damaging 1.00
R2150:Glb1 UTSW 9 114,279,716 (GRCm39) missense probably damaging 1.00
R2170:Glb1 UTSW 9 114,302,873 (GRCm39) critical splice acceptor site probably benign
R2259:Glb1 UTSW 9 114,272,100 (GRCm39) nonsense probably null
R2401:Glb1 UTSW 9 114,283,325 (GRCm39) missense possibly damaging 0.81
R3980:Glb1 UTSW 9 114,246,132 (GRCm39) missense probably damaging 0.97
R4488:Glb1 UTSW 9 114,272,182 (GRCm39) missense probably damaging 1.00
R4696:Glb1 UTSW 9 114,293,220 (GRCm39) missense probably benign
R5349:Glb1 UTSW 9 114,263,529 (GRCm39) critical splice donor site probably null
R6045:Glb1 UTSW 9 114,267,010 (GRCm39) missense probably damaging 1.00
R6448:Glb1 UTSW 9 114,263,499 (GRCm39) missense probably damaging 0.99
R7308:Glb1 UTSW 9 114,302,931 (GRCm39) missense probably damaging 0.98
R7327:Glb1 UTSW 9 114,246,126 (GRCm39) missense probably benign 0.00
R7492:Glb1 UTSW 9 114,303,017 (GRCm39) missense probably damaging 1.00
R8087:Glb1 UTSW 9 114,259,483 (GRCm39) missense probably damaging 1.00
R8181:Glb1 UTSW 9 114,259,429 (GRCm39) missense probably damaging 1.00
R9067:Glb1 UTSW 9 114,302,922 (GRCm39) missense probably damaging 0.99
R9187:Glb1 UTSW 9 114,302,991 (GRCm39) missense probably damaging 1.00
R9289:Glb1 UTSW 9 114,249,558 (GRCm39) missense probably damaging 1.00
R9315:Glb1 UTSW 9 114,285,548 (GRCm39) missense probably benign
R9777:Glb1 UTSW 9 114,246,084 (GRCm39) missense probably damaging 1.00
X0052:Glb1 UTSW 9 114,302,873 (GRCm39) critical splice acceptor site probably benign
Z1177:Glb1 UTSW 9 114,249,490 (GRCm39) missense probably damaging 0.98
Posted On 2013-11-11