Incidental Mutation 'R1387:Glb1'
ID 162437
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 039449-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1387 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 114230146-114303447 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 114249431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 5 (W5R)
Ref Sequence ENSEMBL: ENSMUSP00000149937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063042] [ENSMUST00000217583]
AlphaFold P23780
Predicted Effect probably damaging
Transcript: ENSMUST00000063042
AA Change: W87R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055803
Gene: ENSMUSG00000045594
AA Change: W87R

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: W5R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9731 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 88.4%
Validation Efficiency 99% (82/83)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610303G11Rik T A 9: 98,068,812 (GRCm39) noncoding transcript Het
4930447C04Rik C A 12: 72,962,208 (GRCm39) R52L probably benign Het
Abca13 C T 11: 9,632,085 (GRCm39) Q5002* probably null Het
Acacb T C 5: 114,338,573 (GRCm39) I761T probably benign Het
Acap3 G T 4: 155,983,937 (GRCm39) L134F probably benign Het
Adamtsl1 T C 4: 86,293,230 (GRCm39) probably benign Het
Adgrv1 A G 13: 81,641,295 (GRCm39) V3278A possibly damaging Het
Agxt2 T C 15: 10,380,696 (GRCm39) Y196H probably damaging Het
Akap13 T C 7: 75,235,941 (GRCm39) V172A probably damaging Het
Aqp8 A G 7: 123,065,891 (GRCm39) I229V probably benign Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Brd10 A G 19: 29,700,853 (GRCm39) I812T probably benign Het
Cacng8 T C 7: 3,463,672 (GRCm39) S275P possibly damaging Het
Catsperg1 T C 7: 28,906,289 (GRCm39) Y138C probably damaging Het
Ccdc93 T G 1: 121,418,918 (GRCm39) L491R probably damaging Het
Cntnap2 T C 6: 47,084,848 (GRCm39) V1103A probably benign Het
Col12a1 C T 9: 79,588,657 (GRCm39) probably benign Het
Col6a3 A G 1: 90,750,138 (GRCm39) probably benign Het
Csf2rb2 C T 15: 78,182,414 (GRCm39) A6T probably damaging Het
Cyp2j5 T A 4: 96,522,522 (GRCm39) S351C probably damaging Het
Cyth1 A G 11: 118,073,172 (GRCm39) probably benign Het
Dock2 A G 11: 34,223,309 (GRCm39) probably benign Het
Duoxa1 T A 2: 122,134,468 (GRCm39) I262F possibly damaging Het
Dync2h1 T C 9: 7,125,816 (GRCm39) D1930G probably benign Het
Eeig1 T C 2: 32,455,635 (GRCm39) S254P possibly damaging Het
Eno1 C T 4: 150,332,590 (GRCm39) probably benign Het
Fam98a T A 17: 75,845,264 (GRCm39) H494L unknown Het
Fcamr C A 1: 130,732,379 (GRCm39) T122K possibly damaging Het
Foxq1 A G 13: 31,743,288 (GRCm39) D130G probably damaging Het
Gm17661 GA GAA 2: 90,917,709 (GRCm38) noncoding transcript Het
Gm5431 T A 11: 48,785,842 (GRCm39) R178W possibly damaging Het
Gys2 C T 6: 142,407,009 (GRCm39) V116M probably benign Het
Hif1a C T 12: 73,989,066 (GRCm39) T651I possibly damaging Het
Itgb5 T A 16: 33,720,885 (GRCm39) Y3* probably null Het
Kank3 A G 17: 34,035,205 (GRCm39) N7S possibly damaging Het
Kdm2b G T 5: 123,018,331 (GRCm39) H981Q probably damaging Het
Kdm6a C T X: 18,120,235 (GRCm39) probably benign Het
Kif1a A T 1: 92,983,672 (GRCm39) probably benign Het
Knl1 T A 2: 118,901,211 (GRCm39) S971T possibly damaging Het
Lcn6 T C 2: 25,567,149 (GRCm39) V50A possibly damaging Het
Llgl2 G T 11: 115,743,958 (GRCm39) V762F probably damaging Het
Lpcat4 T C 2: 112,075,021 (GRCm39) F342L probably benign Het
Lrp2 C A 2: 69,287,262 (GRCm39) G3725V probably damaging Het
Map1b T C 13: 99,569,158 (GRCm39) T1188A unknown Het
Mecp2 G A X: 73,079,394 (GRCm39) P362S possibly damaging Het
Mideas C A 12: 84,199,705 (GRCm39) R1005L probably damaging Het
Mmp13 T A 9: 7,282,033 (GRCm39) F445Y possibly damaging Het
Myo5b G T 18: 74,777,272 (GRCm39) probably benign Het
Myo7b A G 18: 32,116,805 (GRCm39) probably benign Het
Nadk2 C A 15: 9,106,870 (GRCm39) L384I possibly damaging Het
Napg A G 18: 63,119,283 (GRCm39) I98V possibly damaging Het
Ncoa1 G T 12: 4,324,790 (GRCm39) N1041K probably benign Het
Nmu A T 5: 76,497,992 (GRCm39) C64* probably null Het
Nobox T A 6: 43,284,132 (GRCm39) K13M probably damaging Het
Nos1 T C 5: 118,091,848 (GRCm39) probably benign Het
Nrg2 A G 18: 36,329,792 (GRCm39) V141A probably damaging Het
Or1b1 T G 2: 36,994,880 (GRCm39) I261L probably benign Het
Or2aj5 T C 16: 19,424,777 (GRCm39) I214V probably damaging Het
Or55b4 T A 7: 102,133,911 (GRCm39) I139L probably benign Het
Phldb2 C T 16: 45,646,357 (GRCm39) E71K possibly damaging Het
Pik3r4 T A 9: 105,521,490 (GRCm39) Y19N probably damaging Het
Pkhd1 A C 1: 20,625,447 (GRCm39) probably benign Het
Pogk G T 1: 166,227,707 (GRCm39) P148Q possibly damaging Het
Pten G T 19: 32,775,496 (GRCm39) A79S probably benign Het
Ptpdc1 A T 13: 48,739,796 (GRCm39) V545E possibly damaging Het
Qdpr G C 5: 45,607,480 (GRCm39) probably benign Het
Rhbdd3 T A 11: 5,054,121 (GRCm39) H83Q probably damaging Het
Rnf6 A G 5: 146,148,055 (GRCm39) V321A probably benign Het
Rtf1 T A 2: 119,536,126 (GRCm39) probably null Het
Serpina10 C T 12: 103,594,500 (GRCm39) V240I probably benign Het
Siah2 A G 3: 58,598,935 (GRCm39) V101A possibly damaging Het
Taok3 A G 5: 117,344,720 (GRCm39) K46R probably damaging Het
Tcaf2 A C 6: 42,601,512 (GRCm39) L849R probably damaging Het
Upf3a T C 8: 13,842,118 (GRCm39) F178S probably damaging Het
Vmn1r218 G A 13: 23,321,478 (GRCm39) G195D probably damaging Het
Vmn2r59 A G 7: 41,695,521 (GRCm39) V297A probably damaging Het
Vmn2r70 T A 7: 85,207,969 (GRCm39) Q836L probably benign Het
Zfp473 A G 7: 44,382,365 (GRCm39) V655A probably benign Het
Zic5 A G 14: 122,696,897 (GRCm39) S573P unknown 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
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
Predicted Primers PCR Primer
(F):5'- ATTCATGCCAGGCTCTGTGACTCC -3'
(R):5'- TGCAACTGGAAGCTCACCATGTC -3'

Sequencing Primer
(F):5'- cccatcccagtattcgcc -3'
(R):5'- ATGTCCCACTCTGCACAGATG -3'
Posted On 2014-03-17