Incidental Mutation 'R6194:Gusb'
ID 502784
Institutional Source Beutler Lab
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
MMRRC Submission 044334-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R6194 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 130017852-130031890 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 130018906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 577 (V577M)
Ref Sequence ENSEMBL: ENSMUSP00000026613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026613] [ENSMUST00000201801] [ENSMUST00000201855]
AlphaFold P12265
Predicted Effect possibly damaging
Transcript: ENSMUST00000026613
AA Change: V577M

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026613
Gene: ENSMUSG00000025534
AA Change: V577M

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 noncoding transcript
Transcript: ENSMUST00000126676
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
Predicted Effect probably benign
Transcript: ENSMUST00000201855
SMART Domains Protein: ENSMUSP00000144608
Gene: ENSMUSG00000066735

DomainStartEndE-ValueType
Pfam:VKOR 17 88 5.6e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031410I06Rik T C 5: 26,309,033 (GRCm39) I90V probably benign Het
Afap1l2 T A 19: 56,911,383 (GRCm39) R370S probably damaging Het
Alcam A G 16: 52,088,761 (GRCm39) Y537H probably damaging Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Asap1 A G 15: 64,001,058 (GRCm39) S508P probably damaging Het
Atg5 T C 10: 44,170,612 (GRCm39) L86P probably damaging Het
Atp13a5 G A 16: 29,127,057 (GRCm39) P502S probably damaging Het
AW209491 T A 13: 14,811,705 (GRCm39) I186K possibly damaging Het
Baz1b T C 5: 135,272,744 (GRCm39) Y1354H probably damaging Het
Card6 A T 15: 5,127,926 (GRCm39) S1157T unknown Het
Chil6 A G 3: 106,312,192 (GRCm39) probably null Het
Chrna1 A G 2: 73,400,816 (GRCm39) V238A probably benign Het
Cluap1 A G 16: 3,747,770 (GRCm39) S308G probably benign Het
Cntnap4 A G 8: 113,602,061 (GRCm39) D1155G probably damaging Het
Cptp A G 4: 155,951,098 (GRCm39) F123L probably damaging Het
Elapor1 T C 3: 108,373,095 (GRCm39) I600V probably benign Het
Fbxw2 G A 2: 34,697,416 (GRCm39) T317I probably damaging Het
Gc A T 5: 89,589,438 (GRCm39) V197E probably benign Het
Hectd1 A T 12: 51,795,228 (GRCm39) N2400K probably damaging Het
Hnrnph1 T A 11: 50,274,104 (GRCm39) D340E possibly damaging Het
Hs3st1 C A 5: 39,771,748 (GRCm39) K298N probably damaging Het
Hunk A T 16: 90,293,283 (GRCm39) T522S probably damaging Het
Ifit3 T C 19: 34,565,027 (GRCm39) F191S probably benign Het
Ifnab T A 4: 88,609,362 (GRCm39) K35* probably null Het
Ifnab G T 4: 88,609,363 (GRCm39) N34K probably damaging Het
Ighmbp2 C A 19: 3,312,003 (GRCm39) R917L possibly damaging Het
Igkv13-84 C T 6: 68,916,916 (GRCm39) A71V possibly damaging Het
Irag1 T C 7: 110,498,901 (GRCm39) N377D probably damaging Het
Lim2 T A 7: 43,085,086 (GRCm39) C159S probably damaging Het
Lrrc56 T C 7: 140,785,564 (GRCm39) Y147H probably damaging Het
Ltn1 A G 16: 87,212,698 (GRCm39) L621P probably damaging Het
Mapk8ip1 C A 2: 92,219,589 (GRCm39) G81C probably damaging Het
Mboat2 T A 12: 24,996,637 (GRCm39) S213R probably benign Het
Mmel1 T A 4: 154,967,673 (GRCm39) C99* probably null Het
Myo9a A G 9: 59,777,033 (GRCm39) I1144V probably benign Het
Naa15 A G 3: 51,370,721 (GRCm39) T612A probably benign Het
Naalad2 C T 9: 18,262,443 (GRCm39) V362I probably benign Het
Nbeal1 A T 1: 60,296,643 (GRCm39) I1178F possibly damaging Het
Nras C A 3: 102,966,269 (GRCm39) A11E probably damaging Het
Or13f5 T A 4: 52,825,779 (GRCm39) C127* probably null Het
Or56a3b G T 7: 104,771,377 (GRCm39) V238L probably benign Het
Pcdhb7 A G 18: 37,475,199 (GRCm39) T112A probably damaging Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm39) probably benign Het
Pfkfb2 A G 1: 130,625,624 (GRCm39) *519Q probably null Het
Prodh A T 16: 17,890,381 (GRCm39) H515Q probably benign Het
Rbfox2 T C 15: 76,968,357 (GRCm39) T435A possibly damaging Het
Rbks T C 5: 31,824,234 (GRCm39) E87G probably benign Het
Scyl1 G T 19: 5,820,334 (GRCm39) Q167K possibly damaging Het
Serpina3i T A 12: 104,232,762 (GRCm39) D222E probably benign Het
Slc36a4 T A 9: 15,638,172 (GRCm39) C199* probably null Het
Slx1b C T 7: 126,291,503 (GRCm39) R187H possibly damaging Het
Stxbp5 A G 10: 9,693,083 (GRCm39) F348L probably damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tfpt A T 7: 3,632,026 (GRCm39) L28Q probably damaging Het
Trap1 G A 16: 3,872,664 (GRCm39) T335M possibly damaging Het
Zcchc2 T A 1: 105,918,847 (GRCm39) F110I probably damaging Het
Zfp345 A T 2: 150,314,551 (GRCm39) C329S 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
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
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
Predicted Primers PCR Primer
(F):5'- AACCCAATCTGAAGCCTACTTTTC -3'
(R):5'- AGTTAGTACAGCCCCGCATC -3'

Sequencing Primer
(F):5'- TCCTTTTAACCACTGTAAACTAGACC -3'
(R):5'- CCGCATCAGGACAGATCTTTTAGTG -3'
Posted On 2018-02-27