Mutagenetix > Incidental Mutation

Incidental Mutation 'R7121:Gusb'

552000

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

045210-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R7121 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130017852-130031890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130028884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 202 (D202G)

Ref Sequence

ENSEMBL: ENSMUSP00000026613 (fasta)

Gene Model

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

AlphaFold

P12265

Predicted Effect

probably benign
Transcript: ENSMUST00000026613
AA Change: D202G

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000026613
Gene: ENSMUSG00000025534
AA Change: D202G

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

silent
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
AA Change: D202G

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106940
Gene: ENSMUSG00000025534
AA Change: D202G

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_2_N	35	223	7.7e-43	PFAM

Predicted Effect

silent
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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (71/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	C	T	19: 42,041,112 (GRCm39)	A81V	probably benign	Het
Abcc9	A	T	6: 142,634,853 (GRCm39)	L137*	probably null	Het
Akap10	A	G	11: 61,777,524 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,601,604 (GRCm39)	Y1683N	probably damaging	Het
Atl1	A	G	12: 69,978,408 (GRCm39)	S127G	probably damaging	Het
Cadm1	G	A	9: 47,710,708 (GRCm39)	V204M	probably damaging	Het
Cbr3	T	A	16: 93,487,438 (GRCm39)	I207N	probably damaging	Het
Ccdc148	A	T	2: 58,717,579 (GRCm39)	Y475N	probably damaging	Het
Ccdc33	A	T	9: 57,988,167 (GRCm39)	S144T	probably benign	Het
Ceacam5	C	A	7: 17,479,462 (GRCm39)	A193E	probably benign	Het
Chd2	T	C	7: 73,119,418 (GRCm39)	D1042G	probably benign	Het
Chmp5	A	T	4: 40,952,217 (GRCm39)		probably null	Het
Clca3a1	T	A	3: 144,717,567 (GRCm39)	N467I	probably damaging	Het
D130040H23Rik	T	C	8: 69,754,931 (GRCm39)	V112A	probably damaging	Het
Dbh	A	T	2: 27,058,318 (GRCm39)	D162V	probably damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnm2	C	T	9: 21,385,862 (GRCm39)	T295I	probably benign	Het
Faiml	A	C	9: 99,116,446 (GRCm39)	D81E	probably benign	Het
Fer1l4	T	A	2: 155,886,477 (GRCm39)	Y720F	probably benign	Het
Fn1	A	C	1: 71,639,697 (GRCm39)		probably benign	Het
Ftsj3	T	C	11: 106,143,123 (GRCm39)	E397G	probably damaging	Het
Gm16506	T	C	14: 43,964,817 (GRCm39)	K42E		Het
Gpr179	A	G	11: 97,225,556 (GRCm39)	S2200P	probably benign	Het
Hspe1	A	G	1: 55,128,310 (GRCm39)	E35G	probably damaging	Het
Kptn	T	A	7: 15,857,023 (GRCm39)	H170Q	probably damaging	Het
Lama3	G	A	18: 12,595,839 (GRCm39)	A923T	probably benign	Het
Lmo7	T	A	14: 102,124,471 (GRCm39)	I432K	probably damaging	Het
Maneal	G	A	4: 124,750,905 (GRCm39)	P284S	probably benign	Het
Mrgbp	A	G	2: 180,224,682 (GRCm39)	T28A	probably benign	Het
Myo1h	T	C	5: 114,476,290 (GRCm39)	V493A		Het
Naxd	T	C	8: 11,556,745 (GRCm39)	L122P	probably damaging	Het
Neto2	T	C	8: 86,397,020 (GRCm39)		probably null	Het
Obscn	T	A	11: 58,904,078 (GRCm39)	R7299*	probably null	Het
Odf2l	G	A	3: 144,845,581 (GRCm39)	V363I	possibly damaging	Het
Or2g25	T	C	17: 37,970,699 (GRCm39)	H175R	probably damaging	Het
Or2t35	A	G	14: 14,407,998 (GRCm38)	T257A	possibly damaging	Het
Or4c100	A	T	2: 88,356,170 (GRCm39)	D81V	probably damaging	Het
Or52a5b	A	T	7: 103,416,940 (GRCm39)	Y221*	probably null	Het
Or5b105	T	A	19: 13,080,537 (GRCm39)	I44F	probably benign	Het
Otud3	G	A	4: 138,624,067 (GRCm39)	P325L	probably benign	Het
Palb2	T	C	7: 121,724,057 (GRCm39)	N564S	probably benign	Het
Pcnt	A	G	10: 76,263,761 (GRCm39)	V401A	possibly damaging	Het
Plcd4	G	A	1: 74,604,524 (GRCm39)	E767K	probably benign	Het
Ppp3ca	T	C	3: 136,574,387 (GRCm39)	F95S	probably damaging	Het
Prkar2a	A	G	9: 108,569,821 (GRCm39)	T56A	probably benign	Het
Psma2	T	A	13: 14,799,815 (GRCm39)	D186E	probably benign	Het
Psmd11	T	A	11: 80,329,099 (GRCm39)	Y72*	probably null	Het
Ror1	G	A	4: 100,160,142 (GRCm39)	D53N	probably benign	Het
Rubcn	C	T	16: 32,656,839 (GRCm39)	R527Q	probably damaging	Het
Sgca	G	A	11: 94,860,373 (GRCm39)	P255S	possibly damaging	Het
Skint11	A	T	4: 114,084,993 (GRCm39)	R167S	probably benign	Het
Slco5a1	A	G	1: 13,060,661 (GRCm39)	V20A	probably benign	Het
Snai2	T	C	16: 14,524,970 (GRCm39)	S159P	probably benign	Het
Taar2	T	G	10: 23,816,725 (GRCm39)	S88R	probably damaging	Het
Tacc3	T	A	5: 33,824,509 (GRCm39)	N378K	possibly damaging	Het
Tek	A	G	4: 94,699,647 (GRCm39)	K342E	probably benign	Het
Tm9sf3	G	T	19: 41,233,944 (GRCm39)	S198*	probably null	Het
Tmbim4	T	A	10: 120,051,514 (GRCm39)	F56I	possibly damaging	Het
Tsen34	T	A	7: 3,697,986 (GRCm39)	S85T	probably benign	Het
Ttc27	C	A	17: 75,054,710 (GRCm39)	Q339K	probably benign	Het
Ubap2	G	T	4: 41,205,550 (GRCm39)	P636T	probably benign	Het
Ubr1	G	A	2: 120,705,979 (GRCm39)	L1495F	probably benign	Het
Vsig10	T	C	5: 117,481,967 (GRCm39)	S386P	probably damaging	Het
Wnk2	C	A	13: 49,300,653 (GRCm39)	R19L	probably benign	Het
Wsb2	T	C	5: 117,508,944 (GRCm39)	L126P	probably damaging	Het
Xylb	A	G	9: 119,211,358 (GRCm39)	I402V	probably benign	Het
Yrdc	A	G	4: 124,744,748 (GRCm39)	S61G	probably benign	Het
Zbtb3	A	G	19: 8,780,771 (GRCm39)	D128G	probably damaging	Het
Zfp423	C	T	8: 88,507,489 (GRCm39)	G952R	probably damaging	Het
Zfp646	A	G	7: 127,478,944 (GRCm39)	T374A	possibly 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
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
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'- GGGCTAAAAGATGCTTGAAGCC -3'
(R):5'- GTAGAACCAGTGCCTGAGGTTG -3'

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

Posted On

2019-05-15