Mutagenetix > Incidental Mutation

Incidental Mutation 'R2148:Glb1'

234026

Institutional Source

Beutler Lab

Gene Symbol

Glb1

Ensembl Gene

ENSMUSG00000045594

Gene Name

galactosidase, beta 1

Synonyms

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

MMRRC Submission

040151-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2148 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114230146-114303447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114279716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 375 (Y375H)

Ref Sequence

ENSEMBL: ENSMUSP00000055803 (fasta)

Gene Model

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

AlphaFold

P23780

Predicted Effect

probably damaging
Transcript: ENSMUST00000063042
AA Change: Y375H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055803
Gene: ENSMUSG00000045594
AA Change: Y375H

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 benign
Transcript: ENSMUST00000217583

Meta Mutation Damage Score

0.1669

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	A	1: 71,302,647 (GRCm39)	V2191L	probably benign	Het
Abca13	A	G	11: 9,565,764 (GRCm39)	Y4796C	probably damaging	Het
Actn2	A	T	13: 12,315,835 (GRCm39)	M228K	probably damaging	Het
Agbl1	T	G	7: 76,064,465 (GRCm39)		probably null	Het
Ahi1	T	G	10: 20,846,875 (GRCm39)	V435G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgap6	A	G	X: 167,579,496 (GRCm39)	T94A	probably benign	Het
Atg4c	C	A	4: 99,109,463 (GRCm39)	N143K	possibly damaging	Het
Bcor	G	A	X: 11,923,862 (GRCm39)	A578V	possibly damaging	Het
Bop1	A	G	15: 76,339,487 (GRCm39)	V286A	probably damaging	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cacna1a	A	T	8: 85,356,304 (GRCm39)	Q1887L	possibly damaging	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Cnot2	A	G	10: 116,342,185 (GRCm39)	I173T	probably benign	Het
Cntnap5b	T	A	1: 100,311,199 (GRCm39)	I564N	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyp2j11	G	A	4: 96,204,595 (GRCm39)	T317I	probably damaging	Het
Dcaf8l	T	C	X: 88,449,883 (GRCm39)	D82G	possibly damaging	Het
Dennd3	A	T	15: 73,426,909 (GRCm39)	H762L	probably benign	Het
Dgkd	T	G	1: 87,809,643 (GRCm39)	N110K	probably damaging	Het
Dhx8	A	T	11: 101,629,203 (GRCm39)	R198*	probably null	Het
Dnah8	A	T	17: 30,956,232 (GRCm39)	I2071F	probably damaging	Het
Dsc3	C	T	18: 20,098,695 (GRCm39)	R828Q	probably damaging	Het
Fbxl4	T	C	4: 22,427,333 (GRCm39)	F525L	possibly damaging	Het
Gpatch1	A	G	7: 34,998,701 (GRCm39)	V343A	probably benign	Het
Gpr139	A	G	7: 118,744,192 (GRCm39)	V131A	probably benign	Het
Hamp	T	C	7: 30,642,137 (GRCm39)	T34A	possibly damaging	Het
Homer2	T	G	7: 81,274,043 (GRCm39)	D51A	possibly damaging	Het
Hspa1l	C	T	17: 35,196,366 (GRCm39)	A135V	probably damaging	Het
Igsf10	A	G	3: 59,243,998 (GRCm39)	M112T	possibly damaging	Het
Ikbkb	A	T	8: 23,172,761 (GRCm39)	L153Q	probably damaging	Het
Kif19a	A	T	11: 114,671,594 (GRCm39)	I158F	probably damaging	Het
L1cam	A	T	X: 72,904,747 (GRCm39)	F536Y	probably damaging	Het
Lamb3	T	C	1: 193,010,212 (GRCm39)	V275A	probably benign	Het
Lhx1	A	T	11: 84,410,647 (GRCm39)	S226T	probably benign	Het
Llcfc1	G	A	6: 41,662,155 (GRCm39)	G53D	possibly damaging	Het
Loxl4	A	G	19: 42,592,631 (GRCm39)		probably null	Het
Magee1	A	T	X: 104,166,564 (GRCm39)	D783V	probably damaging	Het
Mak	T	C	13: 41,195,513 (GRCm39)	K400R	probably benign	Het
Mgat4c	T	C	10: 102,224,790 (GRCm39)	F335L	probably benign	Het
Mgat4f	T	A	1: 134,318,251 (GRCm39)	M341K	probably damaging	Het
Mospd2	A	G	X: 163,739,473 (GRCm39)		probably null	Het
Mtor	T	C	4: 148,540,469 (GRCm39)	F245L	possibly damaging	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myo5a	T	A	9: 75,087,429 (GRCm39)	L1095H	probably damaging	Het
Nlrp1a	T	A	11: 71,013,733 (GRCm39)	K506*	probably null	Het
Or5d18	C	A	2: 87,864,943 (GRCm39)	C180F	probably damaging	Het
Parvb	A	G	15: 84,116,369 (GRCm39)	K33E	possibly damaging	Het
Phkb	A	G	8: 86,744,115 (GRCm39)	D588G	probably damaging	Het
Pkd1l2	A	T	8: 117,783,064 (GRCm39)	I752N	probably damaging	Het
Pkhd1	C	A	1: 20,484,444 (GRCm39)		probably null	Het
Plod3	C	T	5: 137,016,627 (GRCm39)	R30*	probably null	Het
Ppfia4	T	C	1: 134,240,372 (GRCm39)	I591V	probably benign	Het
Prickle2	A	G	6: 92,402,652 (GRCm39)	L112P	probably damaging	Het
Ptgs2	G	T	1: 149,981,465 (GRCm39)	A583S	probably benign	Het
Pycr2	T	C	1: 180,734,413 (GRCm39)	V231A	probably damaging	Het
Ralgapa2	T	C	2: 146,273,807 (GRCm39)	D540G	probably benign	Het
Rasal1	T	A	5: 120,800,096 (GRCm39)	I150N	probably damaging	Het
Rimkla	T	A	4: 119,331,779 (GRCm39)	M140L	possibly damaging	Het
Sacs	T	C	14: 61,410,827 (GRCm39)	L34P	probably damaging	Het
Sema3d	A	G	5: 12,534,926 (GRCm39)	Y106C	probably damaging	Het
Serpinb8	T	A	1: 107,533,657 (GRCm39)	D237E	probably benign	Het
Slc19a2	T	C	1: 164,089,657 (GRCm39)	W158R	probably damaging	Het
Sorbs1	A	T	19: 40,365,268 (GRCm39)	F172I	possibly damaging	Het
Spaca7	A	T	8: 12,636,447 (GRCm39)	D91V	probably damaging	Het
Tead3	A	G	17: 28,552,638 (GRCm39)	F187L	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tmem131	C	A	1: 36,851,690 (GRCm39)	V938L	probably benign	Het
Tmem132c	T	A	5: 127,540,026 (GRCm39)	W351R	probably damaging	Het
Tmem178b	A	T	6: 40,184,435 (GRCm39)	Q111L	probably damaging	Het
Trap1	T	C	16: 3,878,624 (GRCm39)	D236G	probably damaging	Het
Trim45	T	A	3: 100,839,360 (GRCm39)	L754*	probably null	Het
Tubgcp5	A	G	7: 55,449,259 (GRCm39)	E152G	probably damaging	Het
Uaca	A	T	9: 60,776,961 (GRCm39)	L447F	probably damaging	Het
Vps51	A	G	19: 6,118,164 (GRCm39)	V777A	probably benign	Het
Wdr11	A	G	7: 129,230,807 (GRCm39)		probably null	Het
Zfp462	T	A	4: 55,013,670 (GRCm39)	S1879T	probably benign	Het
Zfr2	T	G	10: 81,077,950 (GRCm39)	V259G	probably benign	Het

Other mutations in Glb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Glb1	APN	9	114,279,745 (GRCm39)	splice site	probably benign
IGL01649:Glb1	APN	9	114,253,016 (GRCm39)	missense	probably damaging	1.00
IGL01720:Glb1	APN	9	114,249,573 (GRCm39)	critical splice donor site	probably null
IGL02199:Glb1	APN	9	114,303,015 (GRCm39)	missense	probably benign	0.06
IGL02613:Glb1	APN	9	114,293,130 (GRCm39)	missense	possibly damaging	0.91
IGL03392:Glb1	APN	9	114,259,389 (GRCm39)	missense	probably damaging	1.00
R0463:Glb1	UTSW	9	114,250,812 (GRCm39)	frame shift	probably null
R0518:Glb1	UTSW	9	114,250,812 (GRCm39)	frame shift	probably null
R0519:Glb1	UTSW	9	114,250,812 (GRCm39)	frame shift	probably null
R0520:Glb1	UTSW	9	114,250,812 (GRCm39)	frame shift	probably null
R1387:Glb1	UTSW	9	114,249,431 (GRCm39)	missense	probably damaging	1.00
R1499:Glb1	UTSW	9	114,246,171 (GRCm39)	missense	probably benign	0.04
R1898:Glb1	UTSW	9	114,253,103 (GRCm39)	missense	probably damaging	1.00
R2143:Glb1	UTSW	9	114,266,892 (GRCm39)	missense	probably damaging	1.00
R2145:Glb1	UTSW	9	114,293,233 (GRCm39)	missense	probably benign	0.00
R2146:Glb1	UTSW	9	114,279,716 (GRCm39)	missense	probably damaging	1.00
R2149:Glb1	UTSW	9	114,279,716 (GRCm39)	missense	probably damaging	1.00
R2150:Glb1	UTSW	9	114,279,716 (GRCm39)	missense	probably damaging	1.00
R2170:Glb1	UTSW	9	114,302,873 (GRCm39)	critical splice acceptor site	probably benign
R2259:Glb1	UTSW	9	114,272,100 (GRCm39)	nonsense	probably null
R2401:Glb1	UTSW	9	114,283,325 (GRCm39)	missense	possibly damaging	0.81
R3980:Glb1	UTSW	9	114,246,132 (GRCm39)	missense	probably damaging	0.97
R4488:Glb1	UTSW	9	114,272,182 (GRCm39)	missense	probably damaging	1.00
R4696:Glb1	UTSW	9	114,293,220 (GRCm39)	missense	probably benign
R5349:Glb1	UTSW	9	114,263,529 (GRCm39)	critical splice donor site	probably null
R6045:Glb1	UTSW	9	114,267,010 (GRCm39)	missense	probably damaging	1.00
R6448:Glb1	UTSW	9	114,263,499 (GRCm39)	missense	probably damaging	0.99
R7308:Glb1	UTSW	9	114,302,931 (GRCm39)	missense	probably damaging	0.98
R7327:Glb1	UTSW	9	114,246,126 (GRCm39)	missense	probably benign	0.00
R7492:Glb1	UTSW	9	114,303,017 (GRCm39)	missense	probably damaging	1.00
R8087:Glb1	UTSW	9	114,259,483 (GRCm39)	missense	probably damaging	1.00
R8181:Glb1	UTSW	9	114,259,429 (GRCm39)	missense	probably damaging	1.00
R9067:Glb1	UTSW	9	114,302,922 (GRCm39)	missense	probably damaging	0.99
R9187:Glb1	UTSW	9	114,302,991 (GRCm39)	missense	probably damaging	1.00
R9289:Glb1	UTSW	9	114,249,558 (GRCm39)	missense	probably damaging	1.00
R9315:Glb1	UTSW	9	114,285,548 (GRCm39)	missense	probably benign
R9777:Glb1	UTSW	9	114,246,084 (GRCm39)	missense	probably damaging	1.00
X0052:Glb1	UTSW	9	114,302,873 (GRCm39)	critical splice acceptor site	probably benign
Z1177:Glb1	UTSW	9	114,249,490 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GATTTTGCTAAGCAGTAAACTAGTACC -3'
(R):5'- GAAGAGAGCAAGCCTCCAGC -3'

Sequencing Primer
(F):5'- TTCTGGGACAACTGGGACTACAC -3'
(R):5'- AGGCTAGCTCCTAACTCACTATGTAG -3'

Posted On

2014-10-01