Incidental Mutation 'IGL03307:Gusb'
ID 416427
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gusb
Ensembl Gene ENSMUSG00000025534
Gene Name glucuronidase, beta
Synonyms asd, Gus-r, Gus, Gus-s, Gus-t, Gut, Gur, g, adipose storage deficiency, Gus-u
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # IGL03307
Quality Score
Status
Chromosome 5
Chromosomal Location 130017852-130031890 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 130028872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 145 (*145W)
Ref Sequence ENSEMBL: ENSMUSP00000144478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026613] [ENSMUST00000111307] [ENSMUST00000111308] [ENSMUST00000201801]
AlphaFold P12265
Predicted Effect probably damaging
Transcript: ENSMUST00000026613
AA Change: D206G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026613
Gene: ENSMUSG00000025534
AA Change: D206G

DomainStartEndE-ValueType
Pfam:Glyco_hydro_2_N 35 223 4e-46 PFAM
Pfam:Glyco_hydro_2 225 323 6.4e-12 PFAM
Pfam:Glyco_hydro_2_C 325 627 9e-117 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111307
AA Change: *145W
SMART Domains Protein: ENSMUSP00000106939
Gene: ENSMUSG00000025534
AA Change: *145W

DomainStartEndE-ValueType
Pfam:Glyco_hydro_2_N 35 143 2.1e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111308
AA Change: D206G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106940
Gene: ENSMUSG00000025534
AA Change: D206G

DomainStartEndE-ValueType
Pfam:Glyco_hydro_2_N 35 223 7.7e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122994
Predicted Effect probably null
Transcript: ENSMUST00000201801
AA Change: *145W
SMART Domains Protein: ENSMUSP00000144478
Gene: ENSMUSG00000025534
AA Change: *145W

DomainStartEndE-ValueType
Pfam:Glyco_hydro_2_N 35 138 5.5e-19 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014]
PHENOTYPE: Knock-in mutations of this gene lead to lysosomal storage disease and may cause premature death, facial, tail and limb anomalies, growth retardation, male sterility, reduced lactation, osteosclerosis and behavioral defects. Additional phenotypes include partial neonatal death and deafness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 T C 12: 88,425,823 (GRCm39) I417T possibly damaging Het
Arrdc1 A T 2: 24,816,354 (GRCm39) I205N probably damaging Het
Atp6v1a A G 16: 43,931,922 (GRCm39) V122A possibly damaging Het
Atp8a2 A G 14: 60,253,321 (GRCm39) probably null Het
Cdh18 A G 15: 23,226,872 (GRCm39) H111R probably damaging Het
Cpsf3 T A 12: 21,346,715 (GRCm39) I196N possibly damaging Het
Cyp2b9 C T 7: 25,898,476 (GRCm39) S277L probably benign Het
Grik3 T C 4: 125,535,347 (GRCm39) M248T possibly damaging Het
Il18rap T C 1: 40,582,227 (GRCm39) Y383H probably benign Het
Lama4 T C 10: 38,893,379 (GRCm39) V162A probably benign Het
Macc1 A T 12: 119,410,155 (GRCm39) M308L probably benign Het
Or52s1b C T 7: 102,822,623 (GRCm39) V74I probably benign Het
Or8g27 A T 9: 39,129,309 (GRCm39) I219F probably benign Het
Postn A G 3: 54,282,548 (GRCm39) D503G probably benign Het
Robo3 A T 9: 37,333,860 (GRCm39) V658D probably damaging Het
Scrn1 G A 6: 54,525,322 (GRCm39) R16* probably null Het
Setd1b C A 5: 123,286,734 (GRCm39) D593E unknown Het
Slc2a13 C T 15: 91,160,317 (GRCm39) V546M probably damaging Het
Spock1 T C 13: 57,577,160 (GRCm39) D423G probably null Het
Stox2 T C 8: 47,647,065 (GRCm39) T132A probably damaging Het
Tle2 T C 10: 81,426,074 (GRCm39) S703P probably damaging Het
Trgc1 A G 13: 19,398,528 (GRCm39) probably benign Het
Ttc41 T C 10: 86,580,304 (GRCm39) I750T possibly damaging Het
Vmn2r107 A T 17: 20,577,038 (GRCm39) K345N probably benign Het
Vmn2r60 T C 7: 41,765,971 (GRCm39) V26A probably benign Het
Vmn2r98 G A 17: 19,286,242 (GRCm39) V247I possibly damaging Het
Zan A G 5: 137,472,287 (GRCm39) V153A probably damaging Het
Other mutations in Gusb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Gusb APN 5 130,028,222 (GRCm39) missense probably damaging 1.00
IGL01561:Gusb APN 5 130,026,927 (GRCm39) missense probably damaging 1.00
IGL02642:Gusb APN 5 130,029,376 (GRCm39) splice site probably null
R0389:Gusb UTSW 5 130,026,927 (GRCm39) missense probably damaging 1.00
R1496:Gusb UTSW 5 130,027,385 (GRCm39) missense probably benign 0.00
R1512:Gusb UTSW 5 130,029,731 (GRCm39) missense probably damaging 1.00
R2125:Gusb UTSW 5 130,028,288 (GRCm39) missense probably benign 0.00
R2888:Gusb UTSW 5 130,029,343 (GRCm39) missense probably damaging 1.00
R2890:Gusb UTSW 5 130,029,343 (GRCm39) missense probably damaging 1.00
R3017:Gusb UTSW 5 130,029,325 (GRCm39) missense probably damaging 1.00
R4453:Gusb UTSW 5 130,027,324 (GRCm39) missense possibly damaging 0.84
R4906:Gusb UTSW 5 130,026,959 (GRCm39) missense probably damaging 0.98
R4937:Gusb UTSW 5 130,024,326 (GRCm39) missense probably damaging 0.99
R5260:Gusb UTSW 5 130,028,829 (GRCm39) nonsense probably null
R5281:Gusb UTSW 5 130,027,367 (GRCm39) missense probably benign 0.00
R6194:Gusb UTSW 5 130,018,906 (GRCm39) missense possibly damaging 0.46
R6248:Gusb UTSW 5 130,029,366 (GRCm39) missense probably benign 0.01
R7121:Gusb UTSW 5 130,028,884 (GRCm39) missense probably benign 0.44
R7209:Gusb UTSW 5 130,027,387 (GRCm39) missense probably benign
R7768:Gusb UTSW 5 130,029,246 (GRCm39) missense probably benign 0.01
R8223:Gusb UTSW 5 130,018,953 (GRCm39) missense probably benign 0.00
R9652:Gusb UTSW 5 130,026,652 (GRCm39) missense probably damaging 1.00
Z1177:Gusb UTSW 5 130,031,577 (GRCm39) missense probably benign 0.34
Posted On 2016-08-02