Incidental Mutation 'R2146:Glb1'
ID 233844
Institutional Source Beutler Lab
Gene Symbol Glb1
Ensembl Gene ENSMUSG00000045594
Gene Name galactosidase, beta 1
Synonyms Bgl-s, Bgl, C130097A14Rik, Bge, Bgl-t, Bgl-e, Bgs, Bgt
MMRRC Submission 040149-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2146 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 114230146-114303447 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114279716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 375 (Y375H)
Ref Sequence ENSEMBL: ENSMUSP00000055803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063042] [ENSMUST00000217583]
AlphaFold P23780
Predicted Effect probably damaging
Transcript: ENSMUST00000063042
AA Change: Y375H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055803
Gene: ENSMUSG00000045594
AA Change: Y375H

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
Meta Mutation Damage Score 0.1669 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (84/85)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A T 6: 124,324,803 (GRCm39) probably null Het
9530002B09Rik T A 4: 122,583,198 (GRCm39) C13* probably null Het
Abca12 C A 1: 71,302,647 (GRCm39) V2191L probably benign Het
Adamts18 G C 8: 114,571,635 (GRCm39) A116G possibly damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Arhgap6 A G X: 167,579,496 (GRCm39) T94A probably benign Het
Arhgef5 T C 6: 43,260,252 (GRCm39) S1413P probably damaging Het
Atg4c C A 4: 99,109,463 (GRCm39) N143K possibly damaging Het
C1qtnf12 A G 4: 156,050,922 (GRCm39) N297S probably benign Het
Cadps2 G T 6: 23,838,998 (GRCm39) probably benign Het
Ccdc185 G T 1: 182,575,085 (GRCm39) H535N possibly damaging Het
Ccdc57 A G 11: 120,776,051 (GRCm39) probably benign Het
Cd163 A G 6: 124,286,167 (GRCm39) H239R probably damaging Het
Ceacam2 G T 7: 25,227,368 (GRCm39) C166* probably null Het
Ces5a T A 8: 94,261,327 (GRCm39) E33D probably benign Het
Chl1 T C 6: 103,692,362 (GRCm39) probably null Het
Chsy3 G A 18: 59,309,544 (GRCm39) V266I probably benign Het
Cpa5 G T 6: 30,626,821 (GRCm39) R251L probably damaging Het
Cps1 A C 1: 67,191,538 (GRCm39) probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cstf1 T C 2: 172,217,683 (GRCm39) Y99H probably damaging Het
Cyp2j11 G A 4: 96,204,595 (GRCm39) T317I probably damaging Het
Dcaf8l T C X: 88,449,883 (GRCm39) D82G possibly damaging Het
Dennd3 C T 15: 73,395,345 (GRCm39) T146M probably damaging Het
Dennd3 A T 15: 73,426,909 (GRCm39) H762L probably benign Het
Dnah2 T C 11: 69,406,587 (GRCm39) M552V probably benign Het
Dnajc22 T C 15: 99,002,264 (GRCm39) V303A probably benign Het
Dtx2 T G 5: 136,059,464 (GRCm39) L458R probably benign Het
Fat3 A T 9: 15,901,808 (GRCm39) F3072L probably benign Het
Fgf5 T C 5: 98,423,409 (GRCm39) *265R probably null Het
Fndc11 A G 2: 180,863,918 (GRCm39) E241G probably damaging Het
Gm4922 T G 10: 18,659,264 (GRCm39) Q486P probably benign Het
Gm5786 A T 12: 59,128,084 (GRCm39) noncoding transcript Het
Hepacam2 A T 6: 3,463,378 (GRCm39) probably benign Het
Ints9 G A 14: 65,223,792 (GRCm39) G89R possibly damaging Het
Iqcm T A 8: 76,615,241 (GRCm39) W441R probably damaging Het
Itga10 T C 3: 96,558,808 (GRCm39) L382P possibly damaging Het
Itga10 G T 3: 96,561,039 (GRCm39) G635W probably damaging Het
Kbtbd2 A G 6: 56,756,075 (GRCm39) Y554H probably damaging Het
Kif1b T C 4: 149,268,766 (GRCm39) K1649R probably damaging Het
L1cam A T X: 72,904,747 (GRCm39) F536Y probably damaging Het
Magee1 A T X: 104,166,564 (GRCm39) D783V probably damaging Het
Marveld3 A T 8: 110,686,434 (GRCm39) V144E probably benign Het
Mcam T C 9: 44,047,932 (GRCm39) V59A probably damaging Het
Mdga2 C T 12: 66,915,515 (GRCm39) E47K probably damaging Het
Metrn T A 17: 26,015,601 (GRCm39) E38V probably damaging Het
Mfrp T C 9: 44,015,015 (GRCm39) L314P probably benign Het
Mgat4f T A 1: 134,318,251 (GRCm39) M341K probably damaging Het
Mideas G T 12: 84,219,809 (GRCm39) P382T probably damaging Het
Mospd2 A G X: 163,739,473 (GRCm39) probably null Het
Mycbp2 G A 14: 103,393,358 (GRCm39) H3068Y probably damaging Het
Myh6 C T 14: 55,191,228 (GRCm39) R871H probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or13c7b A G 4: 43,821,178 (GRCm39) F61S probably damaging Het
Or5b111 T C 19: 13,291,485 (GRCm39) T55A probably benign Het
Or8i2 T A 2: 86,852,009 (GRCm39) N293I probably damaging Het
Parvb A G 15: 84,116,369 (GRCm39) K33E possibly damaging Het
Pdcd11 A G 19: 47,093,191 (GRCm39) M490V probably benign Het
Pkd2 A C 5: 104,603,456 (GRCm39) probably benign Het
Reps1 T A 10: 17,969,061 (GRCm39) D206E probably benign Het
Rimkla T A 4: 119,331,779 (GRCm39) M140L possibly damaging Het
Rnf13 T G 3: 57,709,907 (GRCm39) I150S probably null Het
Rxfp4 C T 3: 88,560,200 (GRCm39) A84T probably damaging Het
Serpinb8 T A 1: 107,533,657 (GRCm39) D237E probably benign Het
Sgo2b T G 8: 64,381,057 (GRCm39) T592P probably benign Het
Slc35d1 A T 4: 103,062,349 (GRCm39) I228N probably damaging Het
Slc39a1 T G 3: 90,156,757 (GRCm39) H104Q probably benign Het
Slc6a6 T C 6: 91,712,161 (GRCm39) V230A probably benign Het
Slc9a3 A G 13: 74,269,722 (GRCm39) E30G probably benign Het
Slc9c1 A G 16: 45,413,827 (GRCm39) Y985C probably benign Het
Supt6 A G 11: 78,121,758 (GRCm39) F298S probably damaging Het
Tada2a T C 11: 83,970,455 (GRCm39) D432G probably damaging Het
Thoc2l T C 5: 104,666,857 (GRCm39) F460L probably benign Het
Tmem131 C A 1: 36,851,690 (GRCm39) V938L probably benign Het
Tnpo3 A G 6: 29,589,035 (GRCm39) V105A probably benign Het
Ttc7 T C 17: 87,654,135 (GRCm39) probably benign Het
Ttn T C 2: 76,727,532 (GRCm39) probably benign Het
Usp16 T C 16: 87,270,075 (GRCm39) probably null Het
Usp36 A G 11: 118,159,491 (GRCm39) L486S probably benign Het
Uty T C Y: 1,239,816 (GRCm39) I72V probably benign Het
Vps51 A G 19: 6,118,164 (GRCm39) V777A probably benign Het
Zfp160 A G 17: 21,247,244 (GRCm39) K598R probably benign Het
Zfp39 T C 11: 58,781,158 (GRCm39) N535D probably benign Het
Zfp804a A G 2: 82,089,008 (GRCm39) T946A probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GATTTTGCTAAGCAGTAAACTAGTACC -3'
(R):5'- GAAGAGAGCAAGCCTCCAGC -3'

Sequencing Primer
(F):5'- TTCTGGGACAACTGGGACTACAC -3'
(R):5'- AGGCTAGCTCCTAACTCACTATGTAG -3'
Posted On 2014-10-01