Incidental Mutation 'IGL02613:Glb1'
ID 300560
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 # IGL02613
Quality Score
Status
Chromosome 9
Chromosomal Location 114230146-114303447 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114293130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 502 (T502A)
Ref Sequence ENSEMBL: ENSMUSP00000055803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063042] [ENSMUST00000217583]
AlphaFold P23780
Predicted Effect possibly damaging
Transcript: ENSMUST00000063042
AA Change: T502A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000055803
Gene: ENSMUSG00000045594
AA Change: T502A

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,655,833 (GRCm39) I549L possibly damaging Het
Arhgef17 A T 7: 100,578,103 (GRCm39) H948Q probably damaging Het
Auh A G 13: 53,073,035 (GRCm39) probably null Het
Btf3 A G 13: 98,446,714 (GRCm39) probably benign Het
Capg A G 6: 72,532,594 (GRCm39) N53S probably damaging Het
Cfap70 T C 14: 20,459,132 (GRCm39) probably null Het
Chrna5 A T 9: 54,913,705 (GRCm39) E417V probably damaging Het
Coch A G 12: 51,642,132 (GRCm39) T35A possibly damaging Het
Dock4 T A 12: 40,860,465 (GRCm39) L1284M probably damaging Het
Etv3 A G 3: 87,443,702 (GRCm39) T429A possibly damaging Het
Fmnl2 T C 2: 52,963,747 (GRCm39) probably null Het
Greb1 C A 12: 16,789,889 (GRCm39) probably null Het
Hspg2 A G 4: 137,271,731 (GRCm39) Y2499C probably damaging Het
Kcnq1 A T 7: 142,979,863 (GRCm39) probably benign Het
Lrriq1 A G 10: 102,980,409 (GRCm39) S1497P probably damaging Het
Magel2 G A 7: 62,029,946 (GRCm39) R950H unknown Het
Mcc A G 18: 44,563,021 (GRCm39) L982P probably damaging Het
Naif1 T A 2: 32,345,172 (GRCm39) M292K possibly damaging Het
Npb T A 11: 120,499,716 (GRCm39) C99S probably damaging Het
Obscn G T 11: 58,892,958 (GRCm39) R6763S probably benign Het
Or13a21 A G 7: 139,999,383 (GRCm39) V101A probably benign Het
Or5p56 C T 7: 107,590,381 (GRCm39) Q270* probably null Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Pitpnm3 A T 11: 71,948,898 (GRCm39) S736T probably damaging Het
Polr1a A T 6: 71,944,304 (GRCm39) E1257V probably damaging Het
Sec63 G A 10: 42,677,703 (GRCm39) D270N probably damaging Het
Snrnp200 C T 2: 127,060,346 (GRCm39) T530I probably damaging Het
Sorbs1 A T 19: 40,315,991 (GRCm39) N383K probably damaging Het
Syk G A 13: 52,797,076 (GRCm39) G546R probably damaging Het
Tfap2d T A 1: 19,189,415 (GRCm39) L265Q probably damaging Het
Trav12-1 C T 14: 53,775,742 (GRCm39) S9L possibly damaging Het
Trerf1 T C 17: 47,659,766 (GRCm39) noncoding transcript Het
Ttn T A 2: 76,558,704 (GRCm39) I29726L possibly damaging Het
Usp18 A G 6: 121,238,049 (GRCm39) T143A probably benign Het
Usp32 A T 11: 84,930,896 (GRCm39) N511K probably damaging Het
Wdr64 C T 1: 175,594,613 (GRCm39) Q4* probably null Het
Zfp277 A G 12: 40,379,514 (GRCm39) F340S probably damaging Het
Other mutations in Glb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:Glb1 APN 9 114,279,745 (GRCm39) splice site probably benign
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
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 2015-04-16