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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Pfam:Glyco_hydro_2_N
|
35 |
143 |
2.1e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111308
|
SMART Domains |
Protein: ENSMUSP00000106940 Gene: ENSMUSG00000025534
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |