Mutagenetix > Incidental Mutation

Incidental Mutation 'R1512:Gusb'

168408

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

039559-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R1512 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130017852-130031890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130029731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 88 (Q88R)

Ref Sequence

ENSEMBL: ENSMUSP00000106940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026613] [ENSMUST00000111307] [ENSMUST00000111308] [ENSMUST00000201801]

AlphaFold

P12265

Predicted Effect

probably damaging
Transcript: ENSMUST00000026613
AA Change: Q88R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026613
Gene: ENSMUSG00000025534
AA Change: Q88R

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 damaging
Transcript: ENSMUST00000111307
AA Change: Q88R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106939
Gene: ENSMUSG00000025534
AA Change: Q88R

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: Q88R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106940
Gene: ENSMUSG00000025534
AA Change: Q88R

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 damaging
Transcript: ENSMUST00000201801
AA Change: Q88R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144478
Gene: ENSMUSG00000025534
AA Change: Q88R

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_2_N	35	138	5.5e-19	PFAM

Meta Mutation Damage Score

0.2983

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

95% (79/83)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,086,295 (GRCm39)	D40E	probably benign	Het
Acsf2	C	T	11: 94,452,224 (GRCm39)		probably benign	Het
Adamts19	C	T	18: 59,181,917 (GRCm39)	H1119Y	possibly damaging	Het
Akap6	A	G	12: 52,983,937 (GRCm39)	D827G	probably damaging	Het
Ankrd33b	T	C	15: 31,367,375 (GRCm39)	D55G	probably damaging	Het
Ano5	T	A	7: 51,229,316 (GRCm39)	H569Q	probably benign	Het
Aox1	A	G	1: 58,346,510 (GRCm39)	D548G	probably benign	Het
Baz2a	A	G	10: 127,960,021 (GRCm39)	D1433G	possibly damaging	Het
BC031181	T	G	18: 75,141,767 (GRCm39)	V8G	probably damaging	Het
Bicdl2	A	T	17: 23,887,083 (GRCm39)	M457L	probably damaging	Het
C130074G19Rik	T	C	1: 184,615,103 (GRCm39)	D29G	probably damaging	Het
Cd200r1	A	T	16: 44,586,390 (GRCm39)	T7S	probably benign	Het
Cdc37	A	G	9: 21,053,712 (GRCm39)		probably benign	Het
Cmtr2	T	C	8: 110,949,267 (GRCm39)	S526P	probably damaging	Het
Cntn2	G	T	1: 132,451,430 (GRCm39)	A433D	probably damaging	Het
Cntnap5a	T	C	1: 115,828,680 (GRCm39)	S35P	probably benign	Het
Csf3r	A	G	4: 125,923,777 (GRCm39)	T96A	possibly damaging	Het
Ctbs	A	G	3: 146,160,720 (GRCm39)	N96D	probably benign	Het
Cyp26b1	C	A	6: 84,553,979 (GRCm39)	V213L	probably benign	Het
Dach1	A	G	14: 98,138,835 (GRCm39)	L536P	probably damaging	Het
Dcaf6	T	C	1: 165,179,589 (GRCm39)	Q517R	probably benign	Het
Dnah1	G	T	14: 31,014,994 (GRCm39)	Q1733K	probably damaging	Het
Dnah17	A	T	11: 117,985,841 (GRCm39)	I1416N	probably benign	Het
Dock11	G	A	X: 35,283,688 (GRCm39)	R1102H	probably damaging	Het
Dpp8	T	C	9: 64,971,096 (GRCm39)		probably benign	Het
Emc1	G	A	4: 139,087,495 (GRCm39)		probably null	Het
Emc8	A	G	8: 121,384,983 (GRCm39)	L76P	possibly damaging	Het
Emx2	T	C	19: 59,448,035 (GRCm39)	Y130H	possibly damaging	Het
Fbf1	C	T	11: 116,038,753 (GRCm39)	R815Q	probably damaging	Het
Foxb2	G	A	19: 16,849,878 (GRCm39)	P376L	probably damaging	Het
Gabrb1	C	A	5: 72,266,047 (GRCm39)	L202I	probably damaging	Het
Gabrb1	T	A	5: 72,266,048 (GRCm39)	L202Q	probably damaging	Het
Grin2c	T	A	11: 115,144,676 (GRCm39)	I617F	probably damaging	Het
Gtf2h3	T	A	5: 124,728,933 (GRCm39)	V164E	probably damaging	Het
Hormad2	T	A	11: 4,374,788 (GRCm39)	K75N	probably damaging	Het
Il33	A	G	19: 29,929,390 (GRCm39)	T38A	possibly damaging	Het
Ivns1abp	A	T	1: 151,236,687 (GRCm39)	Q416L	possibly damaging	Het
Ivns1abp	G	C	1: 151,236,688 (GRCm39)	Q416H	probably benign	Het
Kcnh5	T	A	12: 75,166,711 (GRCm39)	H178L	probably benign	Het
Kif21b	A	G	1: 136,080,543 (GRCm39)	N579S	probably benign	Het
Kif26a	G	C	12: 112,113,389 (GRCm39)	R95P	possibly damaging	Het
Kl	A	G	5: 150,912,062 (GRCm39)	I604V	probably benign	Het
Klhl24	A	G	16: 19,941,686 (GRCm39)	K545E	probably damaging	Het
Mcm3ap	A	G	10: 76,306,347 (GRCm39)	I153M	probably damaging	Het
Meis1	T	G	11: 18,831,682 (GRCm39)	D452A	probably damaging	Het
Msantd4	C	T	9: 4,384,138 (GRCm39)	P153L	probably benign	Het
Myot	A	G	18: 44,475,422 (GRCm39)	E181G	probably damaging	Het
Nf1	T	C	11: 79,281,195 (GRCm39)	F150S	probably damaging	Het
Nyap2	T	A	1: 81,219,566 (GRCm39)	S529R	probably damaging	Het
Or10d3	T	C	9: 39,461,390 (GRCm39)	Y259C	probably damaging	Het
Or12e10	A	T	2: 87,640,988 (GRCm39)	T275S	probably benign	Het
Or2y1c	A	G	11: 49,361,286 (GRCm39)	I103V	probably benign	Het
Or8b56	T	A	9: 38,739,660 (GRCm39)	Y224*	probably null	Het
Pcnt	C	T	10: 76,240,496 (GRCm39)		probably null	Het
Pik3c3	T	C	18: 30,455,289 (GRCm39)		probably null	Het
Pkdcc	A	T	17: 83,527,473 (GRCm39)	Y217F	possibly damaging	Het
Pnpla6	C	A	8: 3,585,459 (GRCm39)		probably benign	Het
Polr3gl	T	C	3: 96,488,190 (GRCm39)	M26V	probably benign	Het
Ppp1r13b	T	C	12: 111,838,842 (GRCm39)	N12S	possibly damaging	Het
Ppp1r26	G	A	2: 28,341,528 (GRCm39)	R386K	probably benign	Het
Prdm10	A	G	9: 31,248,697 (GRCm39)	E355G	probably damaging	Het
Prex2	T	C	1: 11,131,554 (GRCm39)	F41S	possibly damaging	Het
Prkar1b	G	T	5: 139,036,428 (GRCm39)	Y231*	probably null	Het
Prkdc	A	T	16: 15,505,268 (GRCm39)	I857L	probably benign	Het
Psg21	A	T	7: 18,390,425 (GRCm39)	N10K	probably benign	Het
Rapgef3	A	T	15: 97,655,382 (GRCm39)	V444E	probably benign	Het
Rnf17	A	T	14: 56,705,243 (GRCm39)	T716S	probably benign	Het
Rps6ka1	C	T	4: 133,578,315 (GRCm39)	R577H	probably damaging	Het
Scn1a	A	C	2: 66,161,629 (GRCm39)	N306K	possibly damaging	Het
Skint6	A	G	4: 113,095,329 (GRCm39)	I110T	probably damaging	Het
Ssu2	A	G	6: 112,364,959 (GRCm39)	M1T	probably null	Het
Stag3	A	T	5: 138,296,247 (GRCm39)	T437S	probably benign	Het
Tal2	A	G	4: 53,786,107 (GRCm39)	Y96C	probably benign	Het
Thoc3	A	T	13: 54,613,991 (GRCm39)		probably null	Het
Tle1	T	C	4: 72,059,495 (GRCm39)	D19G	probably damaging	Het
Trpm4	A	G	7: 44,964,468 (GRCm39)	I690T	probably benign	Het
Trpm6	A	T	19: 18,853,295 (GRCm39)	M1772L	probably benign	Het
Unc5b	G	A	10: 60,667,254 (GRCm39)		probably benign	Het
Usf3	G	T	16: 44,041,561 (GRCm39)	V2014F	probably damaging	Het
Utp18	C	T	11: 93,776,390 (GRCm39)	A32T	probably benign	Het
Wdfy4	A	G	14: 32,682,765 (GRCm39)	V2981A	probably damaging	Het
Zfp608	A	G	18: 55,079,738 (GRCm39)	V349A	probably damaging	Het
Znfx1	A	C	2: 166,898,237 (GRCm39)	I229S	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
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

Predicted Primers

PCR Primer
(F):5'- TTCTCTGACCCATGACACAGAGCC -3'
(R):5'- AGAGTTCACTTGTGGATGCAGCC -3'

Sequencing Primer
(F):5'- ATGACACAGAGCCCTTCTGG -3'
(R):5'- gtctctcccctgtgtccc -3'

Posted On

2014-04-13