Incidental Mutation 'IGL00799:Gusb'
ID 11192
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 # IGL00799
Quality Score
Status
Chromosome 5
Chromosomal Location 130017852-130031890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130028222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 290 (Y290C)
Ref Sequence ENSEMBL: ENSMUSP00000026613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026613] [ENSMUST00000111307] [ENSMUST00000111308] [ENSMUST00000201801]
AlphaFold P12265
Predicted Effect probably damaging
Transcript: ENSMUST00000026613
AA Change: Y290C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026613
Gene: ENSMUSG00000025534
AA Change: Y290C

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 benign
Transcript: ENSMUST00000111307
SMART Domains Protein: ENSMUSP00000106939
Gene: ENSMUSG00000025534

DomainStartEndE-ValueType
Pfam:Glyco_hydro_2_N 35 143 2.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111308
SMART Domains Protein: ENSMUSP00000106940
Gene: ENSMUSG00000025534

DomainStartEndE-ValueType
Pfam:Glyco_hydro_2_N 35 223 7.7e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122994
Predicted Effect probably benign
Transcript: ENSMUST00000201801
SMART Domains Protein: ENSMUSP00000144478
Gene: ENSMUSG00000025534

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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 A T 4: 144,281,843 (GRCm39) H316Q probably benign Het
Boc G T 16: 44,313,318 (GRCm39) D515E probably benign Het
Cenpe T A 3: 134,934,678 (GRCm39) probably null Het
Ctcf A G 8: 106,403,968 (GRCm39) D608G unknown Het
Dab2ip A G 2: 35,597,787 (GRCm39) I99V probably benign Het
Ecpas T A 4: 58,828,047 (GRCm39) I981F possibly damaging Het
Ehd2 C T 7: 15,697,392 (GRCm39) A139T possibly damaging Het
Fam151b C A 13: 92,614,361 (GRCm39) K42N probably damaging Het
Gapvd1 A T 2: 34,589,872 (GRCm39) D1002E probably benign Het
Hoxd10 A G 2: 74,522,786 (GRCm39) S155G probably benign Het
Hp A G 8: 110,302,250 (GRCm39) probably null Het
Ift122 T C 6: 115,854,497 (GRCm39) S112P probably damaging Het
Iqgap2 A G 13: 95,794,452 (GRCm39) probably benign Het
Mtbp T A 15: 55,480,904 (GRCm39) L290* probably null Het
Nr5a2 T A 1: 136,818,536 (GRCm39) D330V probably damaging Het
R3hdm1 T A 1: 128,102,700 (GRCm39) L157Q probably damaging Het
Rad21 A T 15: 51,839,521 (GRCm39) D116E possibly damaging Het
Slc23a3 A T 1: 75,109,925 (GRCm39) I114N possibly damaging Het
Syne1 A G 10: 5,347,878 (GRCm38) I1140L probably benign Het
Other mutations in Gusb
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03307:Gusb APN 5 130,028,872 (GRCm39) makesense 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 2012-12-06