Incidental Mutation 'IGL01649:Glb1'
ID102769
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glb1
Ensembl Gene ENSMUSG00000045594
Gene Namegalactosidase, beta 1
SynonymsC130097A14Rik, Bgs, Bgl-t, Bgl, Bgl-e, Bgt, Bge, Bgl-s
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01649
Quality Score
Status
Chromosome9
Chromosomal Location114401076-114474898 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 114423948 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 73 (Y73C)
Ref Sequence ENSEMBL: ENSMUSP00000149937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063042] [ENSMUST00000217583]
Predicted Effect probably damaging
Transcript: ENSMUST00000063042
AA Change: Y155C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055803
Gene: ENSMUSG00000045594
AA Change: Y155C

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 damaging
Transcript: ENSMUST00000217583
AA Change: Y73C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,214,576 probably benign Het
4931429L15Rik A G 9: 46,305,818 S220P probably benign Het
Adam18 T C 8: 24,614,896 N634S possibly damaging Het
Arhgef18 T A 8: 3,441,211 probably benign Het
Birc6 A G 17: 74,604,546 S1518G probably benign Het
Cltc A G 11: 86,726,400 V341A probably benign Het
Dlg5 A G 14: 24,138,691 V1721A probably damaging Het
Dnah10 A T 5: 124,732,489 I274F probably damaging Het
Dock1 T A 7: 134,777,410 L622Q probably damaging Het
Dysf A G 6: 84,199,839 D1960G probably damaging Het
Fat3 T C 9: 16,376,719 T503A possibly damaging Het
Gm9396 G T 3: 130,068,619 noncoding transcript Het
Gml2 G T 15: 74,824,221 E155* probably null Het
Ikzf4 G A 10: 128,635,820 R323C probably damaging Het
Kiz A G 2: 146,889,309 T240A probably benign Het
Lzts3 T C 2: 130,635,431 K480E probably damaging Het
Mcm7 T C 5: 138,169,436 H105R probably damaging Het
Mpdz A G 4: 81,303,633 L1464P probably damaging Het
Mrgpra9 A C 7: 47,235,152 L256V probably benign Het
Mrpl40 T C 16: 18,872,579 Q127R probably benign Het
Myom2 G T 8: 15,113,755 R1003L probably benign Het
Nav2 A G 7: 49,575,729 T1806A probably damaging Het
Olfr248 T C 1: 174,391,408 L113P probably damaging Het
Pibf1 A T 14: 99,187,763 Y562F possibly damaging Het
Ppm1n A T 7: 19,278,197 probably benign Het
Psg17 A G 7: 18,816,802 V376A possibly damaging Het
Sept8 T A 11: 53,535,028 F143I possibly damaging Het
Sestd1 A G 2: 77,199,045 Y330H probably damaging Het
Sntg1 C T 1: 8,681,969 probably benign Het
Stpg2 C A 3: 139,419,862 P472Q probably damaging Het
Thbs1 A G 2: 118,114,982 K314R probably benign Het
Vav3 T C 3: 109,562,762 Y508H probably benign Het
Other mutations in Glb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:Glb1 APN 9 114450677 splice site probably benign
IGL01720:Glb1 APN 9 114420505 critical splice donor site probably null
IGL02199:Glb1 APN 9 114473947 missense probably benign 0.06
IGL02613:Glb1 APN 9 114464062 missense possibly damaging 0.91
IGL03392:Glb1 APN 9 114430321 missense probably damaging 1.00
R0463:Glb1 UTSW 9 114421744 frame shift probably null
R0518:Glb1 UTSW 9 114421744 frame shift probably null
R0519:Glb1 UTSW 9 114421744 frame shift probably null
R0520:Glb1 UTSW 9 114421744 frame shift probably null
R1387:Glb1 UTSW 9 114420363 missense probably damaging 1.00
R1499:Glb1 UTSW 9 114417103 missense probably benign 0.04
R1898:Glb1 UTSW 9 114424035 missense probably damaging 1.00
R2143:Glb1 UTSW 9 114437824 missense probably damaging 1.00
R2145:Glb1 UTSW 9 114464165 missense probably benign 0.00
R2146:Glb1 UTSW 9 114450648 missense probably damaging 1.00
R2148:Glb1 UTSW 9 114450648 missense probably damaging 1.00
R2149:Glb1 UTSW 9 114450648 missense probably damaging 1.00
R2150:Glb1 UTSW 9 114450648 missense probably damaging 1.00
R2170:Glb1 UTSW 9 114473805 critical splice acceptor site probably benign
R2259:Glb1 UTSW 9 114443032 nonsense probably null
R2401:Glb1 UTSW 9 114454257 missense possibly damaging 0.81
R3980:Glb1 UTSW 9 114417064 missense probably damaging 0.97
R4488:Glb1 UTSW 9 114443114 missense probably damaging 1.00
R4696:Glb1 UTSW 9 114464152 missense probably benign
R5349:Glb1 UTSW 9 114434461 critical splice donor site probably null
R6045:Glb1 UTSW 9 114437942 missense probably damaging 1.00
R6448:Glb1 UTSW 9 114434431 missense probably damaging 0.99
R7308:Glb1 UTSW 9 114473863 missense probably damaging 0.98
R7327:Glb1 UTSW 9 114417058 missense probably benign 0.00
R7492:Glb1 UTSW 9 114473949 missense probably damaging 1.00
R8087:Glb1 UTSW 9 114430415 missense probably damaging 1.00
R8181:Glb1 UTSW 9 114430361 missense probably damaging 1.00
X0052:Glb1 UTSW 9 114473805 critical splice acceptor site probably benign
Z1177:Glb1 UTSW 9 114420422 missense probably damaging 0.98
Posted On2014-01-21