Incidental Mutation 'R7308:Glb1'
ID567399
Institutional Source Beutler Lab
Gene Symbol Glb1
Ensembl Gene ENSMUSG00000045594
Gene Namegalactosidase, beta 1
SynonymsC130097A14Rik, Bgs, Bgl-t, Bgl, Bgl-e, Bgt, Bge, Bgl-s
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7308 (G1)
Quality Score225.009
Status Not validated
Chromosome9
Chromosomal Location114401076-114474898 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 114473863 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 589 (N589S)
Ref Sequence ENSEMBL: ENSMUSP00000055803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063042] [ENSMUST00000217583]
Predicted Effect probably damaging
Transcript: ENSMUST00000063042
AA Change: N589S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055803
Gene: ENSMUSG00000045594
AA Change: N589S

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,423,770 I43T probably benign Het
Ankar G A 1: 72,651,794 Q1175* probably null Het
Aqr G A 2: 114,104,062 A1366V possibly damaging Het
Arhgap45 G A 10: 80,026,558 probably null Het
Atf7ip T A 6: 136,565,089 M607K probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,888,136 probably benign Het
BC028528 TCACTGGTTCTGTGGTCACTGGTTCTGTGG TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG 3: 95,888,152 probably benign Het
BC028528 ACTGGTTCTGTGGTC ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC 3: 95,888,169 probably benign Het
Bcar3 T A 3: 122,508,493 V279E probably benign Het
Cd96 C T 16: 46,071,734 probably null Het
Cdca2 G A 14: 67,694,991 P488S probably benign Het
Col4a2 T G 8: 11,406,856 probably null Het
Cyp4a12a A G 4: 115,327,758 R379G possibly damaging Het
Defb34 A G 8: 19,126,379 S29G probably benign Het
Dnah11 A G 12: 117,995,275 S2958P probably damaging Het
Dync1h1 A G 12: 110,665,162 D4431G possibly damaging Het
Egfem1 A T 3: 29,151,866 H84L probably benign Het
Enah A T 1: 181,906,385 probably null Het
Fam178b G T 1: 36,659,407 Q78K probably benign Het
Gm1527 C T 3: 28,902,280 H132Y probably benign Het
Gm4788 A G 1: 139,754,303 V185A possibly damaging Het
Gm4858 A G 3: 93,074,565 T223A probably benign Het
Gm5799 A G 14: 43,543,707 R22G possibly damaging Het
Grip2 T C 6: 91,778,688 D617G possibly damaging Het
Hax1 A T 3: 89,998,566 D5E possibly damaging Het
Hic1 A G 11: 75,167,151 L304P probably damaging Het
Hmox1 T A 8: 75,097,019 I105N probably damaging Het
Hormad1 T C 3: 95,562,555 S38P probably damaging Het
Hspa4 A G 11: 53,267,103 S558P possibly damaging Het
Kcnf1 T A 12: 17,174,729 H497L probably benign Het
Kcnma1 C T 14: 23,330,935 D1022N probably damaging Het
Kcnt1 T C 2: 25,900,463 F479S possibly damaging Het
Krba1 T C 6: 48,406,339 V203A probably benign Het
Lct G T 1: 128,319,087 P233Q probably benign Het
Ly75 T C 2: 60,334,515 D773G probably benign Het
Malt1 T C 18: 65,449,609 probably null Het
Man1a2 A T 3: 100,620,105 L333Q probably damaging Het
Mtus1 T C 8: 41,082,928 T584A probably benign Het
Myof A T 19: 37,910,911 S1800R probably damaging Het
Nbea A C 3: 56,091,031 C118W probably damaging Het
Nsd3 A T 8: 25,640,724 D35V probably damaging Het
Olfr1386 G A 11: 49,469,927 probably benign Het
Olfr739 G A 14: 50,425,265 V249I possibly damaging Het
Pcnx3 C T 19: 5,686,147 R217H possibly damaging Het
Pcsk4 G A 10: 80,323,173 P462L probably benign Het
Pdia5 T G 16: 35,456,509 K96N probably damaging Het
Pik3c2a T C 7: 116,373,839 Y707C probably damaging Het
Ppig A T 2: 69,749,462 N447Y unknown Het
Ppp1r9b T C 11: 95,004,571 L695P possibly damaging Het
Proser1 C T 3: 53,478,704 A669V probably benign Het
Rdx A T 9: 52,068,870 K254N probably damaging Het
Slc35f2 T C 9: 53,798,010 S95P probably benign Het
Slc4a3 T A 1: 75,557,362 S1118T probably benign Het
Slf1 G A 13: 77,051,168 P698L probably benign Het
Sptbn2 A G 19: 4,751,574 E2338G probably benign Het
Taok3 T A 5: 117,200,151 Y91* probably null Het
Tbc1d31 C T 15: 57,952,816 L649F probably damaging Het
Tmem132b A T 5: 125,787,646 I939F possibly damaging Het
Trav17 T A 14: 53,806,979 Y69N probably benign Het
Trmt13 T C 3: 116,594,739 D16G probably benign Het
Upf2 T A 2: 5,973,518 Y398N unknown Het
Vmn1r238 T C 18: 3,122,875 T180A probably benign Het
Wdyhv1 T C 15: 58,152,610 V85A possibly damaging Het
Zfp738 A T 13: 67,669,553 I773N probably benign Het
Zscan4e A T 7: 11,307,153 M264K probably benign Het
Other mutations in Glb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:Glb1 APN 9 114450677 splice site probably benign
IGL01649:Glb1 APN 9 114423948 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTCTTCTGCAGCAGGAATTGG -3'
(R):5'- CAGGAAATGACCGGAGTGTC -3'

Sequencing Primer
(F):5'- TACCACCTAACATGGGATACTGGG -3'
(R):5'- GGAGTGTCAACAAACTCTACTGTAC -3'
Posted On2019-06-26