Mutagenetix > Incidental Mutation

Incidental Mutation 'R0520:Glb1'

66961

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

038713-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0520 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

114230146-114303447 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

ACCC to ACC at 114250812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149937 (fasta)

Gene Model

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

AlphaFold

P23780

Predicted Effect

probably null
Transcript: ENSMUST00000063042

SMART Domains

Protein: ENSMUSP00000055803
Gene: ENSMUSG00000045594

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	C	14: 103,288,952 (GRCm39)	I154T	possibly damaging	Het
Acr	G	T	15: 89,457,430 (GRCm39)	C226F	probably damaging	Het
Aff1	C	T	5: 103,995,617 (GRCm39)	R1070*	probably null	Het
Aldh9a1	C	T	1: 167,188,960 (GRCm39)		probably benign	Het
Apaf1	A	T	10: 90,915,851 (GRCm39)	H12Q	probably damaging	Het
Asic1	A	T	15: 99,593,416 (GRCm39)	I291F	probably damaging	Het
Aspm	T	A	1: 139,406,558 (GRCm39)	M1815K	possibly damaging	Het
Asxl3	A	T	18: 22,656,043 (GRCm39)	D1351V	probably damaging	Het
Atg9a	C	T	1: 75,163,178 (GRCm39)	W299*	probably null	Het
B3gntl1	C	A	11: 121,514,314 (GRCm39)	V313F	possibly damaging	Het
B4galnt4	T	A	7: 140,647,286 (GRCm39)	C345*	probably null	Het
Bicc1	A	T	10: 70,793,020 (GRCm39)	F211L	probably damaging	Het
Cachd1	T	G	4: 100,754,900 (GRCm39)	V117G	probably damaging	Het
Cdc16	G	A	8: 13,810,569 (GRCm39)		probably null	Het
Cers6	C	T	2: 68,935,435 (GRCm39)	Q312*	probably null	Het
Csta2	A	G	16: 36,073,461 (GRCm39)	I16V	probably benign	Het
Dclre1c	A	G	2: 3,437,512 (GRCm39)	H115R	probably damaging	Het
Ddx20	T	C	3: 105,594,692 (GRCm39)	T18A	probably benign	Het
Dhx57	A	G	17: 80,565,604 (GRCm39)	V816A	possibly damaging	Het
Dlgap1	C	T	17: 70,823,989 (GRCm39)	Q325*	probably null	Het
Dnaja1	A	T	4: 40,728,072 (GRCm39)	M178L	probably benign	Het
Ecd	A	T	14: 20,378,732 (GRCm39)	S454T	probably benign	Het
Efcab6	G	A	15: 83,834,247 (GRCm39)	H454Y	probably benign	Het
Exo1	T	A	1: 175,727,031 (GRCm39)	D447E	probably benign	Het
F5	T	G	1: 164,037,156 (GRCm39)	I1965S	probably benign	Het
Fbn2	A	G	18: 58,146,821 (GRCm39)	C2692R	probably damaging	Het
Fggy	T	A	4: 95,489,340 (GRCm39)	L152Q	probably damaging	Het
Gm9871	A	G	6: 101,778,540 (GRCm39)		noncoding transcript	Het
Gnai2	A	T	9: 107,497,372 (GRCm39)	D7E	probably benign	Het
Gon7	C	T	12: 102,724,047 (GRCm39)		probably benign	Het
H2-K2	A	T	17: 34,216,390 (GRCm39)	V272E	probably damaging	Het
Hectd4	G	T	5: 121,469,770 (GRCm39)	R2555L	possibly damaging	Het
Hexb	T	C	13: 97,317,618 (GRCm39)	R360G	probably benign	Het
Igsf9b	C	A	9: 27,234,546 (GRCm39)	S470R	probably benign	Het
Inpp5d	T	C	1: 87,633,642 (GRCm39)		probably benign	Het
Inpp5k	C	A	11: 75,530,356 (GRCm39)	Y265*	probably null	Het
Klhl33	T	G	14: 51,129,140 (GRCm39)	E436D	probably damaging	Het
Krt80	A	G	15: 101,267,898 (GRCm39)	L13P	probably benign	Het
Krtap19-2	C	T	16: 88,670,749 (GRCm39)		probably benign	Het
Marchf10	T	C	11: 105,280,708 (GRCm39)	T526A	probably benign	Het
Mcrs1	A	G	15: 99,146,336 (GRCm39)		probably null	Het
Msh2	G	T	17: 88,024,972 (GRCm39)	V617F	possibly damaging	Het
Nckap1	A	C	2: 80,371,874 (GRCm39)		probably benign	Het
Nek4	T	A	14: 30,681,263 (GRCm39)		probably benign	Het
Or7h8	G	A	9: 20,123,791 (GRCm39)	V49I	probably benign	Het
Or8b12b	T	C	9: 37,684,849 (GRCm39)	V298A	probably benign	Het
Or8k22	G	T	2: 86,163,475 (GRCm39)	T75K	probably damaging	Het
Or9s14	T	A	1: 92,536,471 (GRCm39)	V304E	probably damaging	Het
Osgin1	A	G	8: 120,169,247 (GRCm39)	H48R	probably damaging	Het
Pam	T	A	1: 97,811,920 (GRCm39)	T369S	probably benign	Het
Pclo	C	T	5: 14,763,844 (GRCm39)	Q821*	probably null	Het
Plekhm1	T	C	11: 103,285,770 (GRCm39)	I222V	probably benign	Het
Ptprg	T	G	14: 12,199,783 (GRCm38)	N65K	possibly damaging	Het
Pum2	T	A	12: 8,771,710 (GRCm39)	V351E	probably damaging	Het
Slc25a54	T	A	3: 109,014,546 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,736,538 (GRCm39)	D587E	possibly damaging	Het
Stap1	A	G	5: 86,238,823 (GRCm39)	M164V	probably benign	Het
Stat5a	T	C	11: 100,752,252 (GRCm39)	V30A	probably damaging	Het
Stk36	T	G	1: 74,641,365 (GRCm39)		probably benign	Het
Tiam1	G	T	16: 89,614,839 (GRCm39)		probably benign	Het
Tmc5	T	C	7: 118,265,799 (GRCm39)	M553T	probably damaging	Het
Tmem14a	T	A	1: 21,299,636 (GRCm39)	Y89N	possibly damaging	Het
Tpp2	A	G	1: 44,029,690 (GRCm39)	Y991C	probably damaging	Het
Ttc7	A	G	17: 87,666,579 (GRCm39)	K615E	possibly damaging	Het
Ubac2	C	T	14: 122,231,754 (GRCm39)	P227S	probably damaging	Het
Vit	A	C	17: 78,932,588 (GRCm39)	K565T	probably damaging	Het
Vps13c	T	C	9: 67,853,133 (GRCm39)	F2409L	possibly damaging	Het
Wdr64	A	G	1: 175,553,958 (GRCm39)	T173A	probably damaging	Het
Zfp759	T	C	13: 67,285,419 (GRCm39)	I60T	probably benign	Het
Zfp81	A	G	17: 33,553,351 (GRCm39)	S488P	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		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
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
R2148: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

Posted On

2013-08-19