Mutagenetix > Incidental Mutations

Incidental Mutation 'R2259:Glb1'

243653

Institutional Source

Beutler Lab

Gene Symbol

Glb1

Ensembl Gene

ENSMUSG00000045594

Gene Name

galactosidase, beta 1

Synonyms

C130097A14Rik, Bgs, Bgl-t, Bgl, Bgl-e, Bgt, Bge, Bgl-s

MMRRC Submission

040259-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2259 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114401076-114474898 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 114443032 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 246 (Q246*)

Ref Sequence

ENSEMBL: ENSMUSP00000149937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063042] [ENSMUST00000217583]

Predicted Effect

probably null
Transcript: ENSMUST00000063042
AA Change: Q328*

SMART Domains

Protein: ENSMUSP00000055803
Gene: ENSMUSG00000045594
AA Change: Q328*

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Glyco_hydro_35	41	358	2.5e-129	PFAM
Pfam:Glyco_hydro_42	56	216	9.4e-15	PFAM
Pfam:BetaGal_dom4_5	531	623	4.3e-10	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000217583
AA Change: Q246*

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a preproprotein that is proteolytically cleaved to yield a signal peptide and a proproptein that is subsequently processed to generate the active mature peptide. The encoded protein is a lysosomal enzyme that catalyzes the hydrolysis of terminal beta-D-galactose residues in various substrates like lactose, ganglioside GM1 and other glycoproteins. Mutations in the human gene are associated with GM1-gangliosidosis and Morquio B syndrome. Disruption of the mouse gene mirrors the symptoms of human gangliosidosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit progressive spastic diplegia, emaciation, and accumulation of ganglioside GM1 and asialo GM1 in brain tissue. Mutants die at 7-10 months of age. [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
Adgrd1	T	G	5: 129,112,311	S91A	possibly damaging	Het
Ankrd13b	T	G	11: 77,476,342	N247T	probably damaging	Het
Atp10b	A	G	11: 43,172,745	D169G	probably damaging	Het
Atp10b	G	A	11: 43,189,613	V239M	probably damaging	Het
Cflar	C	T	1: 58,729,121	T121I	probably benign	Het
Clca3b	T	C	3: 144,846,381	N180D	possibly damaging	Het
Cnbd2	T	A	2: 156,335,272	I62N	probably damaging	Het
Col11a2	A	G	17: 34,039,677	H8R	probably benign	Het
Cyp2a4	C	T	7: 26,309,035	L201F	probably damaging	Het
D630003M21Rik	A	T	2: 158,204,711	L782Q	probably damaging	Het
Dctn1	C	A	6: 83,197,586	H1065N	possibly damaging	Het
Dgcr2	A	T	16: 17,844,977		probably null	Het
Dlg4	T	C	11: 70,031,370	I143T	probably damaging	Het
E2f7	T	G	10: 110,746,343	N4K	probably damaging	Het
Eef2kmt	C	T	16: 5,245,308	V323I	probably benign	Het
Eif2ak4	A	C	2: 118,455,783	I1017L	probably damaging	Het
Eln	C	A	5: 134,729,654	A126S	unknown	Het
Exoc7	T	C	11: 116,306,411	S35G	probably damaging	Het
Fam187a	A	G	11: 102,885,298		probably benign	Het
Fam196a	T	A	7: 134,917,667	E378V	probably damaging	Het
Fkbp6	C	T	5: 135,337,614		probably null	Het
Flnc	G	A	6: 29,438,666	W186*	probably null	Het
Fmn2	T	A	1: 174,502,932	L296H	unknown	Het
Galnt14	C	A	17: 73,494,266	M520I	probably benign	Het
Gba2	A	G	4: 43,570,107	C396R	probably benign	Het
Gigyf1	C	A	5: 137,520,332	A215E	possibly damaging	Het
Gm11565	T	G	11: 99,915,018	C79G	possibly damaging	Het
Gpr160	A	G	3: 30,896,295	Y172C	probably damaging	Het
Ift52	A	G	2: 163,028,093	N159S	probably benign	Het
Insrr	A	G	3: 87,800,452	D67G	probably damaging	Het
Irf2	A	G	8: 46,837,833	Y230C	probably benign	Het
Jmjd6	T	C	11: 116,841,314	H187R	probably damaging	Het
Kdm2b	C	T	5: 122,882,416	G90S	probably damaging	Het
Kif7	C	T	7: 79,711,589	G118D	probably damaging	Het
Klhl38	G	C	15: 58,314,978	T532S	possibly damaging	Het
Kmt2a	G	T	9: 44,881,142		probably benign	Het
Lama2	A	G	10: 27,031,127	L2346S	probably benign	Het
Marveld2	A	G	13: 100,612,470	S34P	probably benign	Het
Mettl7a1	A	T	15: 100,313,168	I174F	probably benign	Het
Mllt6	T	C	11: 97,664,976	V44A	probably damaging	Het
Muc5ac	A	G	7: 141,791,008	N72S	probably benign	Het
Myo7a	T	G	7: 98,069,499	D1388A	probably damaging	Het
Ncapd3	A	G	9: 27,056,072	D568G	probably benign	Het
Ncoa1	A	C	12: 4,315,819	H82Q	probably damaging	Het
Npbwr1	C	A	1: 5,916,658	L212F	probably damaging	Het
Nptx1	T	G	11: 119,543,316	I315L	probably benign	Het
Npy2r	G	T	3: 82,541,354	P38Q	possibly damaging	Het
Ocln	A	T	13: 100,535,029	D24E	probably damaging	Het
Olfr1350	A	T	7: 6,570,023	I11F	probably damaging	Het
Olfr295	T	A	7: 86,585,884	V203D	possibly damaging	Het
Olfr933	T	C	9: 38,976,000	V108A	probably benign	Het
Pde2a	A	T	7: 101,484,567	D85V	probably damaging	Het
Phf3	A	G	1: 30,804,343	V1845A	probably benign	Het
Plch1	T	A	3: 63,697,977	Q1493L	possibly damaging	Het
Pold1	T	C	7: 44,541,484		probably benign	Het
Polq	T	C	16: 37,062,097	V1541A	probably benign	Het
Psmd3	T	A	11: 98,690,964	M305K	probably benign	Het
Pura	T	C	18: 36,287,750	F197L	possibly damaging	Het
Rab3gap2	T	A	1: 185,221,859	W43R	probably damaging	Het
Repin1	A	G	6: 48,596,530	Q128R	probably benign	Het
Rnf208	G	A	2: 25,243,644	V117I	probably damaging	Het
Rpe65	A	G	3: 159,615,571	Y340C	probably damaging	Het
Ryr1	C	A	7: 29,019,741	V4414L	unknown	Het
Sephs2	T	C	7: 127,273,477	E148G	possibly damaging	Het
Spns2	T	A	11: 72,457,268	Q291L	probably benign	Het
Ssc5d	C	T	7: 4,943,916	P1090S	probably benign	Het
Tasp1	A	T	2: 139,951,506	V250D	probably damaging	Het
Tcaf3	A	G	6: 42,591,430	I664T	possibly damaging	Het
Tg	T	C	15: 66,683,898	V813A	probably benign	Het
Tmem132c	T	C	5: 127,504,924	L401P	probably benign	Het
Tmem138	T	C	19: 10,571,603	N101S	probably benign	Het
Tmem242	G	T	17: 5,433,470	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,774,164	R277H	probably benign	Het
Tnni3	T	A	7: 4,519,406	I182F	probably benign	Het
Trim30a	T	A	7: 104,411,504	D355V	probably damaging	Het
Trim35	C	T	14: 66,309,262	R493*	probably null	Het
Trip10	G	C	17: 57,255,135	V254L	probably benign	Het
Tshz2	A	T	2: 169,886,406	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,128,184	V218A	probably damaging	Het
Unc13b	A	T	4: 43,182,780	E3163V	possibly damaging	Het
Unc45b	T	A	11: 82,917,799	M237K	probably benign	Het
Usp8	A	G	2: 126,758,568	T1080A	probably benign	Het
Vmn2r65	T	A	7: 84,940,911	H599L	possibly damaging	Het
Vps13c	A	G	9: 67,953,860	N2891S	probably benign	Het
Xpo5	C	T	17: 46,240,896	Q1050*	probably null	Het
Zfp407	G	T	18: 84,209,793	T1897K	probably damaging	Het
Zzef1	C	T	11: 72,900,633	R2188*	probably null	Het

Other mutations in Glb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Glb1	APN	9	114450677	splice site	probably benign
IGL01649:Glb1	APN	9	114423948	missense	probably damaging	1.00
IGL01720:Glb1	APN	9	114420505	critical splice donor site	probably null
IGL02199:Glb1	APN	9	114473947	missense	probably benign	0.06
IGL02613:Glb1	APN	9	114464062	missense	possibly damaging	0.91
IGL03392:Glb1	APN	9	114430321	missense	probably damaging	1.00
R0463:Glb1	UTSW	9	114421744	frame shift	probably null
R0518:Glb1	UTSW	9	114421744	frame shift	probably null
R0519:Glb1	UTSW	9	114421744	frame shift	probably null
R0520:Glb1	UTSW	9	114421744	frame shift	probably null
R1387:Glb1	UTSW	9	114420363	missense	probably damaging	1.00
R1499:Glb1	UTSW	9	114417103	missense	probably benign	0.04
R1898:Glb1	UTSW	9	114424035	missense	probably damaging	1.00
R2143:Glb1	UTSW	9	114437824	missense	probably damaging	1.00
R2145:Glb1	UTSW	9	114464165	missense	probably benign	0.00
R2146:Glb1	UTSW	9	114450648	missense	probably damaging	1.00
R2148:Glb1	UTSW	9	114450648	missense	probably damaging	1.00
R2149:Glb1	UTSW	9	114450648	missense	probably damaging	1.00
R2150:Glb1	UTSW	9	114450648	missense	probably damaging	1.00
R2170:Glb1	UTSW	9	114473805	critical splice acceptor site	probably benign
R2401:Glb1	UTSW	9	114454257	missense	possibly damaging	0.81
R3980:Glb1	UTSW	9	114417064	missense	probably damaging	0.97
R4488:Glb1	UTSW	9	114443114	missense	probably damaging	1.00
R4696:Glb1	UTSW	9	114464152	missense	probably benign
R5349:Glb1	UTSW	9	114434461	critical splice donor site	probably null
R6045:Glb1	UTSW	9	114437942	missense	probably damaging	1.00
R6448:Glb1	UTSW	9	114434431	missense	probably damaging	0.99
R7308:Glb1	UTSW	9	114473863	missense	probably damaging	0.98
R7327:Glb1	UTSW	9	114417058	missense	probably benign	0.00
R7492:Glb1	UTSW	9	114473949	missense	probably damaging	1.00
R8087:Glb1	UTSW	9	114430415	missense	probably damaging	1.00
R8181:Glb1	UTSW	9	114430361	missense	probably damaging	1.00
X0052:Glb1	UTSW	9	114473805	critical splice acceptor site	probably benign
Z1177:Glb1	UTSW	9	114420422	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGAGAAAGGCTTTCCCTGGAGG -3'
(R):5'- GATCCATCCACAGAGCCATG -3'

Sequencing Primer
(F):5'- TGCCTGTGAAACACGTATGC -3'
(R):5'- TCCACAGAGCCATGAGGAGTTC -3'

Posted On

2014-10-16