Mutagenetix > Incidental Mutation

Incidental Mutation 'R7768:Gusb'

598372

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

045824-MU

Accession Numbers

Essential gene?

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

Stock #

R7768 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130017852-130031890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130029246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 178 (H178Q)

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: H178Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000026613
Gene: ENSMUSG00000025534
AA Change: H178Q

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
AA Change: H178Q

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000106940
Gene: ENSMUSG00000025534
AA Change: H178Q

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	A	G	13: 12,297,480 (GRCm39)	V479A	possibly damaging	Het
Acy1	G	A	9: 106,310,817 (GRCm39)	T317M	possibly damaging	Het
Adgrg6	A	T	10: 14,307,410 (GRCm39)	D797E	probably benign	Het
Ank1	C	T	8: 23,588,013 (GRCm39)	A552V	probably benign	Het
Ankrd13c	A	G	3: 157,694,284 (GRCm39)	T262A	probably benign	Het
Ap4e1	A	T	2: 126,888,854 (GRCm39)	N468Y	probably damaging	Het
Apbb1	T	C	7: 105,216,295 (GRCm39)	I367V	probably benign	Het
Arl6	A	G	16: 59,452,699 (GRCm39)	I33T	probably damaging	Het
Asgr2	T	C	11: 69,996,242 (GRCm39)	I228T	probably damaging	Het
Aspn	A	G	13: 49,710,871 (GRCm39)	H172R	probably damaging	Het
Bclaf1	T	A	10: 20,215,517 (GRCm39)	F868L	probably benign	Het
Cacna1i	G	A	15: 80,265,389 (GRCm39)	R1547H	probably damaging	Het
Celsr1	G	T	15: 85,816,610 (GRCm39)	Q1778K	probably benign	Het
Cep250	T	C	2: 155,827,929 (GRCm39)	L42S		Het
Clnk	C	A	5: 38,925,501 (GRCm39)	R100L	probably damaging	Het
Cpvl	A	G	6: 53,873,476 (GRCm39)	V420A	possibly damaging	Het
Dicer1	C	A	12: 104,672,956 (GRCm39)	G825V	probably damaging	Het
Dmxl2	T	C	9: 54,288,223 (GRCm39)	Y2628C	probably damaging	Het
Dnah7b	T	A	1: 46,176,634 (GRCm39)	H751Q	probably benign	Het
Dnhd1	C	A	7: 105,370,302 (GRCm39)	R4576S	possibly damaging	Het
Dzip1	A	T	14: 119,116,910 (GRCm39)	D775E	probably benign	Het
Erich3	T	A	3: 154,453,968 (GRCm39)	M381K	probably benign	Het
Fam193a	A	G	5: 34,623,135 (GRCm39)	D1241G	possibly damaging	Het
Gbx2	A	G	1: 89,856,706 (GRCm39)	L228P	probably benign	Het
Ggt7	A	T	2: 155,348,421 (GRCm39)	M77K	possibly damaging	Het
Gpr26	T	A	7: 131,576,077 (GRCm39)	I247K	probably damaging	Het
Grip1	A	G	10: 119,874,302 (GRCm39)	T745A	probably damaging	Het
Hacl1	T	C	14: 31,338,437 (GRCm39)	Y380C	probably damaging	Het
Hdac9	T	C	12: 34,440,239 (GRCm39)	H380R	possibly damaging	Het
Icam4	T	A	9: 20,941,290 (GRCm39)	L143Q	probably damaging	Het
Ikbkb	T	A	8: 23,185,252 (GRCm39)	I43F	probably damaging	Het
Ints11	G	T	4: 155,971,396 (GRCm39)	K303N	probably damaging	Het
Itpa	A	T	2: 130,509,836 (GRCm39)	N16I	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kat6a	T	A	8: 23,393,228 (GRCm39)	N235K	probably damaging	Het
Kmt2a	C	T	9: 44,731,900 (GRCm39)	V2806I	unknown	Het
Loxhd1	T	A	18: 77,472,637 (GRCm39)	F1051L	probably damaging	Het
Map2	A	G	1: 66,453,642 (GRCm39)	E844G	possibly damaging	Het
Mmp7	T	A	9: 7,697,749 (GRCm39)	Y261*	probably null	Het
Muc4	A	C	16: 32,576,568 (GRCm39)	M2023L	unknown	Het
Mybpc1	C	A	10: 88,378,234 (GRCm39)	G688V	probably damaging	Het
Myo3a	A	G	2: 22,245,954 (GRCm39)	T34A	probably damaging	Het
Nrxn2	A	G	19: 6,531,409 (GRCm39)	T683A	possibly damaging	Het
Nup160	A	G	2: 90,530,460 (GRCm39)	I444V	probably damaging	Het
Or2t29	A	T	11: 58,433,466 (GRCm39)	S292T	probably damaging	Het
Or2t29	A	T	11: 58,433,693 (GRCm39)	M216K	possibly damaging	Het
Or4f4-ps1	A	C	2: 111,330,198 (GRCm39)	K200N	possibly damaging	Het
Or8w1	T	C	2: 87,465,657 (GRCm39)	M145V	probably benign	Het
Pcdha1	A	G	18: 37,065,220 (GRCm39)	E628G	probably damaging	Het
Pcdha12	T	C	18: 37,155,404 (GRCm39)	S708P	probably damaging	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Pkd1l2	A	G	8: 117,781,599 (GRCm39)		probably null	Het
Pla2g6	T	C	15: 79,181,514 (GRCm39)	D577G	probably damaging	Het
Pla2r1	G	T	2: 60,279,290 (GRCm39)	D763E	probably benign	Het
Pramel18	A	C	4: 101,769,010 (GRCm39)	I454L	probably benign	Het
Psg18	A	T	7: 18,079,953 (GRCm39)	I416N	probably damaging	Het
Rapgef6	G	T	11: 54,517,414 (GRCm39)	V369F	probably damaging	Het
Rasal3	T	C	17: 32,615,767 (GRCm39)	E357G	probably damaging	Het
Rhbdl3	G	A	11: 80,221,447 (GRCm39)	R195Q	probably benign	Het
Rnf216	A	T	5: 143,084,199 (GRCm39)	M1K	probably null	Het
Rspry1	C	A	8: 95,356,469 (GRCm39)	D165E	probably damaging	Het
Rwdd2b	G	A	16: 87,233,633 (GRCm39)	L156F	probably benign	Het
Scn11a	T	A	9: 119,644,338 (GRCm39)	I141F	probably benign	Het
Sirt2	A	T	7: 28,482,284 (GRCm39)	T198S	probably benign	Het
Slc2a1	A	G	4: 118,989,644 (GRCm39)	N94D	probably damaging	Het
Slc33a1	A	G	3: 63,855,039 (GRCm39)	F407S	possibly damaging	Het
Slc38a4	A	C	15: 96,906,545 (GRCm39)	L356R	probably damaging	Het
Slc43a1	T	A	2: 84,687,215 (GRCm39)	L372Q	probably damaging	Het
Slc6a6	T	A	6: 91,716,946 (GRCm39)	I274N	probably damaging	Het
Smchd1	C	T	17: 71,718,906 (GRCm39)	G821D	probably damaging	Het
Spata33	T	C	8: 123,941,146 (GRCm39)	F65S	unknown	Het
Spmip5	A	T	19: 58,781,174 (GRCm39)	Y25N	probably damaging	Het
Stx19	A	G	16: 62,642,567 (GRCm39)	T128A	probably benign	Het
Tas2r103	T	C	6: 133,013,812 (GRCm39)	M85V	probably benign	Het
Tas2r117	C	T	6: 132,780,485 (GRCm39)	L208F	probably damaging	Het
Tcirg1	A	T	19: 3,952,900 (GRCm39)	I233N	possibly damaging	Het
Uba6	C	A	5: 86,300,779 (GRCm39)	W192L	probably benign	Het
Ube3a	T	C	7: 58,938,525 (GRCm39)	I761T	probably damaging	Het
Unc80	T	C	1: 66,549,754 (GRCm39)	S671P	possibly damaging	Het
Usp8	A	G	2: 126,593,043 (GRCm39)	Q766R	probably damaging	Het
Vmn2r103	A	G	17: 20,032,314 (GRCm39)	N696S	probably damaging	Het
Vmn2r14	G	A	5: 109,368,086 (GRCm39)	T302I	probably benign	Het
Vmn2r50	G	A	7: 9,771,298 (GRCm39)	A801V	probably damaging	Het
Vmn2r85	T	G	10: 130,254,562 (GRCm39)	Q707H	probably damaging	Het
Wsb2	G	A	5: 117,501,787 (GRCm39)	V51M	probably benign	Het
Xdh	T	C	17: 74,246,831 (GRCm39)	T78A	probably benign	Het
Zfp442	T	C	2: 150,250,241 (GRCm39)	K554E	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
R7121:Gusb	UTSW	5	130,028,884 (GRCm39)	missense	probably benign	0.44
R7209:Gusb	UTSW	5	130,027,387 (GRCm39)	missense	probably benign
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'- GAACTTCCAGCAATCACTTTCC -3'
(R):5'- TGTGGGCTCCATTAGAACACC -3'

Sequencing Primer
(F):5'- TCCCTCCTAGCATGCGACG -3'
(R):5'- AGAACACCATTCTTCCATCTGATGG -3'

Posted On

2019-11-26