Incidental Mutation 'R2888:Gusb'
| ID |
259989 |
| 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 |
040476-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R2888 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
130017852-130031890 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130029343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 146
(H146R)
|
| 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: H146R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000026613
Gene: ENSMUSG00000025534
AA Change: H146R
| 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 damaging
Transcript: ENSMUST00000111308
AA Change: H146R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106940
Gene: ENSMUSG00000025534
AA Change: H146R
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (39/39) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930480E11Rik |
A |
T |
X: 77,414,288 (GRCm39) |
I338F |
probably damaging |
Het |
| Acd |
A |
G |
8: 106,425,470 (GRCm39) |
S288P |
probably benign |
Het |
| Aimp2 |
T |
C |
5: 143,846,553 (GRCm39) |
|
probably benign |
Het |
| Atp8b2 |
T |
C |
3: 89,865,600 (GRCm39) |
D100G |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,258,968 (GRCm39) |
I1226F |
probably damaging |
Het |
| Dsp |
C |
A |
13: 38,376,224 (GRCm39) |
N1336K |
possibly damaging |
Het |
| Extl2 |
T |
C |
3: 115,820,906 (GRCm39) |
F251S |
probably damaging |
Het |
| Itpr2 |
C |
T |
6: 146,072,791 (GRCm39) |
G2380S |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,763,764 (GRCm39) |
K762E |
probably benign |
Het |
| Krtap4-9 |
C |
A |
11: 99,676,245 (GRCm39) |
C55* |
probably null |
Het |
| Lamp1 |
T |
A |
8: 13,223,891 (GRCm39) |
L341H |
probably damaging |
Het |
| Llcfc1 |
A |
T |
6: 41,661,537 (GRCm39) |
K29M |
probably damaging |
Het |
| Malrd1 |
A |
T |
2: 16,079,568 (GRCm39) |
I1762F |
unknown |
Het |
| Muc5b |
G |
A |
7: 141,415,291 (GRCm39) |
V2746M |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,858,802 (GRCm39) |
D1173E |
probably benign |
Het |
| Myo5b |
G |
C |
18: 74,895,689 (GRCm39) |
E1782Q |
probably damaging |
Het |
| Or2t46 |
T |
C |
11: 58,471,988 (GRCm39) |
F106S |
possibly damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,094,940 (GRCm39) |
D483G |
probably damaging |
Het |
| Phex |
T |
C |
X: 156,093,954 (GRCm39) |
I439V |
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,897,251 (GRCm39) |
S103C |
probably damaging |
Het |
| Plekha4 |
C |
T |
7: 45,187,668 (GRCm39) |
R176C |
probably damaging |
Het |
| Ppp1r3a |
T |
G |
6: 14,718,248 (GRCm39) |
S889R |
possibly damaging |
Het |
| Pramel23 |
G |
T |
4: 143,423,460 (GRCm39) |
T443K |
probably benign |
Het |
| Prol1 |
C |
A |
5: 88,476,168 (GRCm39) |
A186E |
unknown |
Het |
| Rbm39 |
C |
T |
2: 156,009,503 (GRCm39) |
R123H |
probably benign |
Het |
| Rtn4 |
T |
C |
11: 29,643,687 (GRCm39) |
S167P |
probably damaging |
Het |
| Slc35a5 |
A |
G |
16: 44,971,923 (GRCm39) |
C114R |
probably damaging |
Het |
| Smoc2 |
T |
C |
17: 14,617,887 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
A |
G |
19: 4,798,664 (GRCm39) |
T1998A |
possibly damaging |
Het |
| Tbc1d5 |
T |
A |
17: 51,242,577 (GRCm39) |
E173D |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,850,969 (GRCm39) |
|
probably null |
Het |
| Umps |
A |
T |
16: 33,784,240 (GRCm39) |
V71E |
probably damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,840 (GRCm39) |
D45G |
possibly damaging |
Het |
| Wdfy4 |
C |
A |
14: 32,831,476 (GRCm39) |
E917* |
probably null |
Het |
| Zfhx2 |
T |
C |
14: 55,302,260 (GRCm39) |
K1908R |
possibly damaging |
Het |
| Zfp511 |
A |
C |
7: 139,619,295 (GRCm39) |
D204A |
probably benign |
Het |
|
| Other mutations in Gusb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAGAACCATTCTCCCTATGG -3'
(R):5'- AGAAGGGCTCTGTGTCATGG -3'
Sequencing Primer
(F):5'- CCTATGGGGAAGTCTGCTGG -3'
(R):5'- CTCTGTGTCATGGGTCAGAGAAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation