Mutagenetix > Incidental Mutations

Incidental Mutation 'R7209:Gusb'

560933

Institutional Source

Beutler Lab

Gene Symbol

Gusb

Ensembl Gene

ENSMUSG00000025534

Gene Name

glucuronidase, beta

Synonyms

Gut, Gus, asd, Gur, g, Gus-s, Gus-r, adipose storage deficiency, Gus-u, Gus-t

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R7209 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129989011-130003049 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129998546 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 306 (V306A)

Ref Sequence

ENSEMBL: ENSMUSP00000026613 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000026613
AA Change: V306A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026613
Gene: ENSMUSG00000025534
AA Change: V306A

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

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	C	A	1: 105,750,357	P1136T	probably damaging	Het
Adam7	A	G	14: 68,529,819	Y61H	probably damaging	Het
Adgrb1	T	G	15: 74,569,948	V966G	possibly damaging	Het
Adh5	G	A	3: 138,443,148		probably benign	Het
Akr1b8	T	C	6: 34,356,272	V28A	probably damaging	Het
Apbb1	T	A	7: 105,566,085	I450F	probably damaging	Het
Arhgap23	G	C	11: 97,492,447		probably null	Het
Arhgap23	C	T	11: 97,476,085	T1064I	probably damaging	Het
Atg4b	A	G	1: 93,775,233	I128M	probably damaging	Het
B230118H07Rik	T	C	2: 101,566,382	*217W	probably null	Het
Baat	A	T	4: 49,503,065	I19N	probably damaging	Het
Bspry	T	G	4: 62,486,615	I216S	possibly damaging	Het
Commd9	T	A	2: 101,895,138	S19T	possibly damaging	Het
Cr2	A	G	1: 195,168,724	C145R	probably damaging	Het
Cyp2c68	A	G	19: 39,689,205	L447P	probably damaging	Het
Depdc1b	T	C	13: 108,382,855	M333T	possibly damaging	Het
Dhx9	T	C	1: 153,464,623	T710A	possibly damaging	Het
Dnah5	T	C	15: 28,459,225	V4530A	possibly damaging	Het
Dohh	T	A	10: 81,386,040	H89Q	probably damaging	Het
Dopey2	T	A	16: 93,769,845	N1171K	probably benign	Het
Dscam	T	C	16: 96,650,344		probably null	Het
Entpd5	T	A	12: 84,396,928	S14C	probably benign	Het
Eqtn	G	A	4: 94,925,569	S125F	probably damaging	Het
Erp44	A	T	4: 48,211,704	D197E	probably benign	Het
Fgf18	A	T	11: 33,134,315	D46E	probably benign	Het
Foxa1	T	A	12: 57,543,291	M48L	probably benign	Het
Gabrg1	C	A	5: 70,754,170	C417F	probably damaging	Het
Glrp1	T	A	1: 88,503,282	Q122L	unknown	Het
Gm5286	A	T	3: 94,198,705	Q110L	probably benign	Het
Gm5622	A	G	14: 51,655,906	I97V	possibly damaging	Het
Hars	A	G	18: 36,773,540	S126P	probably benign	Het
Herc1	A	G	9: 66,385,032	S356G	possibly damaging	Het
Hydin	C	A	8: 110,489,792	Y1336*	probably null	Het
Kin	T	C	2: 10,091,753	Y138H	possibly damaging	Het
Lypd2	C	T	15: 74,732,417	V101M	probably benign	Het
Madcam1	A	T	10: 79,665,058	T70S	possibly damaging	Het
Man1a2	A	G	3: 100,647,079	C112R	unknown	Het
Mia2	T	A	12: 59,154,390	V198E	possibly damaging	Het
Mpdz	C	T	4: 81,306,877	V1438M	possibly damaging	Het
Mtif2	G	A	11: 29,529,996	V21M	probably benign	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nln	G	A	13: 104,072,898	Q56*	probably null	Het
Nlrp4b	T	C	7: 10,710,370	V82A	probably benign	Het
Obscn	C	A	11: 59,085,107	E2065*	probably null	Het
Olfr1510	A	G	14: 52,410,093	C260R	possibly damaging	Het
Pilrb2	C	T	5: 137,870,864		probably null	Het
Plekhh1	C	A	12: 79,050,376	D99E	probably benign	Het
Polr2b	T	A	5: 77,343,179	F956I	probably damaging	Het
Ppp3cc	A	G	14: 70,267,498	F20L	probably benign	Het
Prmt9	T	C	8: 77,564,998	V333A	probably benign	Het
Psd4	T	C	2: 24,397,345	S430P	probably damaging	Het
Rrp12	A	C	19: 41,872,949	V973G	possibly damaging	Het
Rxfp2	A	G	5: 150,053,098		probably null	Het
S100a6	G	A	3: 90,613,788	A8T	possibly damaging	Het
Sgsm2	C	A	11: 74,854,325	G717V	probably damaging	Het
Sipa1	A	G	19: 5,654,975	Y531H	probably damaging	Het
Slc45a1	A	C	4: 150,635,212		probably null	Het
Srbd1	C	A	17: 86,001,520	L743F	probably damaging	Het
Taar2	A	T	10: 23,940,699	I46F	possibly damaging	Het
Tcrg-C3	A	G	13: 19,261,164	N94S	probably benign	Het
Tmem241	A	T	18: 12,104,172	V69D	probably damaging	Het
Tns1	T	C	1: 73,953,915	S535G	possibly damaging	Het
Ttc34	C	A	4: 154,839,128	P98Q	probably damaging	Het
Ubr1	C	A	2: 120,862,765	R1720L	probably benign	Het
Ubr3	T	A	2: 70,016,134	D1597E	probably benign	Het
Unc79	T	C	12: 103,125,624	M1930T	probably benign	Het
Vmn2r100	A	T	17: 19,531,314	I603F	not run	Het
Vps26b	A	T	9: 27,009,992	S304T	probably benign	Het
Zfp952	A	T	17: 33,003,470	T308S	possibly damaging	Het

Other mutations in Gusb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:Gusb	APN	5	129999381	missense	probably damaging	1.00
IGL01561:Gusb	APN	5	129998086	missense	probably damaging	1.00
IGL02642:Gusb	APN	5	130000535	splice site	probably null
IGL03307:Gusb	APN	5	130000031	makesense	probably null
R0389:Gusb	UTSW	5	129998086	missense	probably damaging	1.00
R1496:Gusb	UTSW	5	129998544	missense	probably benign	0.00
R1512:Gusb	UTSW	5	130000890	missense	probably damaging	1.00
R2125:Gusb	UTSW	5	129999447	missense	probably benign	0.00
R2888:Gusb	UTSW	5	130000502	missense	probably damaging	1.00
R2890:Gusb	UTSW	5	130000502	missense	probably damaging	1.00
R3017:Gusb	UTSW	5	130000484	missense	probably damaging	1.00
R4453:Gusb	UTSW	5	129998483	missense	possibly damaging	0.84
R4906:Gusb	UTSW	5	129998118	missense	probably damaging	0.98
R4937:Gusb	UTSW	5	129995485	missense	probably damaging	0.99
R5260:Gusb	UTSW	5	129999988	nonsense	probably null
R5281:Gusb	UTSW	5	129998526	missense	probably benign	0.00
R6194:Gusb	UTSW	5	129990065	missense	possibly damaging	0.46
R6248:Gusb	UTSW	5	130000525	missense	probably benign	0.01
R7121:Gusb	UTSW	5	130000043	missense	probably benign	0.44
R7768:Gusb	UTSW	5	130000405	missense	probably benign	0.01
R8223:Gusb	UTSW	5	129990112	missense	probably benign	0.00
Z1177:Gusb	UTSW	5	130002736	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- GCCACACATTGATGCCACAG -3'
(R):5'- TTGTGGGATACGTAGGCACC -3'

Sequencing Primer
(F):5'- ATTGATGCCACAGCTCCTAC -3'
(R):5'- GATCTCTATAAGTTGGAGCCAGCC -3'

Posted On

2019-06-26