Mutagenetix > Incidental Mutation

Incidental Mutation 'R5260:Gusb'

401364

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

042829-MU

Accession Numbers

Essential gene?

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

Stock #

R5260 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130017852-130031890 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 130028829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 220 (Y220*)

Ref Sequence

ENSEMBL: ENSMUSP00000106940 (fasta)

Gene Model

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

AlphaFold

P12265

Predicted Effect

probably null
Transcript: ENSMUST00000026613
AA Change: Y220*

SMART Domains

Protein: ENSMUSP00000026613
Gene: ENSMUSG00000025534
AA Change: Y220*

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 null
Transcript: ENSMUST00000111308
AA Change: Y220*

SMART Domains

Protein: ENSMUSP00000106940
Gene: ENSMUSG00000025534
AA Change: Y220*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (77/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	A	T	7: 132,461,003 (GRCm39)	I14F	probably damaging	Het
Acin1	T	C	14: 54,880,279 (GRCm39)		probably benign	Het
Adamts9	C	A	6: 92,784,118 (GRCm39)	V1579L	probably benign	Het
Adra2a	T	A	19: 54,035,039 (GRCm39)	C132S	probably damaging	Het
Aif1	T	A	17: 35,390,917 (GRCm39)		probably null	Het
Atf5	A	T	7: 44,464,510 (GRCm39)	Y27*	probably null	Het
Atm	A	G	9: 53,417,911 (GRCm39)	S799P	probably damaging	Het
Bmp2k	T	G	5: 97,235,210 (GRCm39)		probably benign	Het
Chaf1a	C	T	17: 56,372,000 (GRCm39)	H723Y	probably damaging	Het
Clint1	T	C	11: 45,798,769 (GRCm39)	W493R	probably damaging	Het
Cyb561a3	T	A	19: 10,565,230 (GRCm39)	V198D	possibly damaging	Het
Cyp2j8	T	C	4: 96,389,301 (GRCm39)	E174G	possibly damaging	Het
Cyp4v3	C	T	8: 45,760,017 (GRCm39)	G512S	probably damaging	Het
Dnah8	T	A	17: 30,919,393 (GRCm39)	V1122D	probably benign	Het
Doc2b	C	A	11: 75,676,989 (GRCm39)	G128V	probably damaging	Het
Dysf	T	C	6: 84,127,016 (GRCm39)	V1378A	probably damaging	Het
Efcab5	A	T	11: 77,028,477 (GRCm39)	S421T	possibly damaging	Het
Efcab6	T	G	15: 83,829,324 (GRCm39)	D672A	probably benign	Het
Eif2ak3	C	A	6: 70,870,113 (GRCm39)	H933Q	probably damaging	Het
Erc1	A	T	6: 119,738,120 (GRCm39)	N574K	probably damaging	Het
Eri2	A	T	7: 119,387,069 (GRCm39)		probably benign	Het
Faxc	A	G	4: 21,948,744 (GRCm39)	Y152C	probably damaging	Het
Fbxl7	T	A	15: 26,543,585 (GRCm39)	Y354F	probably damaging	Het
Fras1	T	A	5: 96,883,046 (GRCm39)	I2526N	possibly damaging	Het
Gm5424	A	T	10: 61,907,374 (GRCm39)		noncoding transcript	Het
Gm6728	T	C	6: 136,463,701 (GRCm39)		noncoding transcript	Het
Golgb1	A	T	16: 36,733,503 (GRCm39)	S917C	probably benign	Het
Gtpbp3	T	C	8: 71,942,062 (GRCm39)		probably benign	Het
Gvin3	A	G	7: 106,198,411 (GRCm39)		noncoding transcript	Het
Hmcn1	A	G	1: 150,471,612 (GRCm39)	V4914A	possibly damaging	Het
Iars2	C	A	1: 185,055,931 (GRCm39)	C211F	probably damaging	Het
Kif5b	A	G	18: 6,211,058 (GRCm39)	L802P	probably damaging	Het
Kif5c	A	G	2: 49,625,602 (GRCm39)	E624G	probably damaging	Het
Kmt2d	G	T	15: 98,740,741 (GRCm39)		probably benign	Het
Krt82	C	A	15: 101,456,823 (GRCm39)	G186C	possibly damaging	Het
Lca5	G	A	9: 83,305,276 (GRCm39)	R177C	probably damaging	Het
Mab21l4	A	T	1: 93,087,700 (GRCm39)	V51E	probably damaging	Het
Mier1	T	C	4: 103,019,907 (GRCm39)	S318P	probably benign	Het
Obscn	A	T	11: 58,894,195 (GRCm39)	I1207N	probably damaging	Het
Oog4	C	T	4: 143,164,424 (GRCm39)	G369D	probably benign	Het
Or4c126	A	G	2: 89,824,526 (GRCm39)	D263G	probably damaging	Het
Or4k52	A	G	2: 111,611,526 (GRCm39)	Y287C	probably damaging	Het
Or52d13	A	G	7: 103,109,822 (GRCm39)	F198L	probably benign	Het
Or5d35	A	C	2: 87,855,818 (GRCm39)	I251L	probably benign	Het
Plec	T	C	15: 76,060,824 (GRCm39)	T3060A	probably damaging	Het
Plekhh2	C	T	17: 84,884,593 (GRCm39)	T769I	probably damaging	Het
Prkaa1	A	T	15: 5,190,149 (GRCm39)	S65C	probably damaging	Het
Psma3	T	C	12: 71,031,416 (GRCm39)		probably benign	Het
Ptpn18	T	A	1: 34,502,591 (GRCm39)		probably benign	Het
Ptprv	T	C	1: 135,039,998 (GRCm39)		noncoding transcript	Het
Rac1	C	A	5: 143,493,886 (GRCm39)	V104L	probably benign	Het
Serpinb7	A	T	1: 107,362,479 (GRCm39)	N61I	possibly damaging	Het
Sirt7	A	C	11: 120,511,347 (GRCm39)		probably benign	Het
Srl	G	A	16: 4,300,759 (GRCm39)	R333*	probably null	Het
Srprb	A	T	9: 103,079,119 (GRCm39)	L756Q	probably damaging	Het
Tchhl1	T	C	3: 93,378,102 (GRCm39)	S269P	probably damaging	Het
Tdo2	C	T	3: 81,882,630 (GRCm39)		probably null	Het
Teddm1a	T	C	1: 153,767,646 (GRCm39)	Y37H	probably benign	Het
Tenm3	T	C	8: 48,689,890 (GRCm39)	Y1899C	probably damaging	Het
Tep1	T	C	14: 51,076,088 (GRCm39)	T1681A	probably benign	Het
Timm44	G	T	8: 4,325,919 (GRCm39)		probably null	Het
Trp73	A	G	4: 154,147,059 (GRCm39)	V322A	possibly damaging	Het
Tsr1	A	C	11: 74,796,781 (GRCm39)	E611A	probably damaging	Het
Unc80	A	G	1: 66,685,746 (GRCm39)	N2290S	possibly damaging	Het
Ush2a	T	C	1: 188,679,276 (GRCm39)	V4828A	possibly damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnt9b	C	A	11: 103,622,875 (GRCm39)	S176I	possibly damaging	Het
Zfp329	A	G	7: 12,540,453 (GRCm39)		probably benign	Het
Zfp352	T	A	4: 90,112,697 (GRCm39)	V279D	probably damaging	Het
Zfp932	C	T	5: 110,157,501 (GRCm39)	Q400*	probably null	Het
Zxdc	T	A	6: 90,359,075 (GRCm39)	L569Q	probably damaging	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
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
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'- GGCTAAAAGATGCTTGAAGCC -3'
(R):5'- TAGAACCAGTGCCTGAGGTTG -3'

Sequencing Primer
(F):5'- AAAGATGCTTGAAGCCTTTTTCTCC -3'
(R):5'- AACCAGTGCCTGAGGTTGTCTTC -3'

Posted On

2016-07-06