Mutagenetix > Incidental Mutation

Incidental Mutation 'R9777:Glb1'

733788

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9777 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114230146-114303447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114246084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 45 (D45V)

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: D45V

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

SMART Domains

Protein: ENSMUSP00000055803
Gene: ENSMUSG00000045594
AA Change: D45V

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.3%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	C	10: 10,283,214 (GRCm39)	M164R	possibly damaging	Het
Alg10b	T	A	15: 90,111,656 (GRCm39)	C167S	probably benign	Het
Ap2m1	C	A	16: 20,358,113 (GRCm39)	R44S	probably damaging	Het
Atrip	T	C	9: 108,902,964 (GRCm39)	S37G	probably benign	Het
Bicra	C	T	7: 15,705,987 (GRCm39)	V1485M	probably benign	Het
Brca2	C	T	5: 150,480,579 (GRCm39)	T2755I	probably damaging	Het
C1qtnf7	A	T	5: 43,673,313 (GRCm39)		probably benign	Het
Ccdc7a	C	T	8: 129,618,860 (GRCm39)	A895T	possibly damaging	Het
Cep290	T	C	10: 100,354,529 (GRCm39)	M871T	probably benign	Het
Col19a1	A	G	1: 24,318,904 (GRCm39)	V1062A	unknown	Het
Col24a1	T	A	3: 145,021,103 (GRCm39)	Y491*	probably null	Het
Cyp2c66	A	T	19: 39,102,520 (GRCm39)	I50F	probably benign	Het
Dbn1	C	A	13: 55,625,639 (GRCm39)	R261L	probably benign	Het
Dlat	G	A	9: 50,562,208 (GRCm39)	A272V	probably damaging	Het
Dlgap3	A	T	4: 127,130,127 (GRCm39)	E967V	possibly damaging	Het
Dnhd1	A	G	7: 105,369,456 (GRCm39)	M4360V	probably benign	Het
Dock7	C	T	4: 98,877,464 (GRCm39)	R1058Q	unknown	Het
Dpp4	T	A	2: 62,195,340 (GRCm39)	I313F	probably benign	Het
Dus1l	C	T	11: 120,683,858 (GRCm39)	V197I	possibly damaging	Het
Eef2k	TATTCATTCATTCATTCATTCATTCATTCA	TATTCATTCATTCATTCATTCATTCA	7: 120,499,453 (GRCm39)		probably benign	Het
Fat3	A	G	9: 15,826,537 (GRCm39)	S324P	probably benign	Het
Fkbp9	C	T	6: 56,855,181 (GRCm39)	H567Y	possibly damaging	Het
Galnt10	C	A	11: 57,672,065 (GRCm39)	P452T	probably damaging	Het
Grm1	A	T	10: 10,573,826 (GRCm39)	V904E	possibly damaging	Het
Gsdma3	T	G	11: 98,526,071 (GRCm39)	V274G	probably damaging	Het
Gsn	A	G	2: 35,194,600 (GRCm39)	E681G	probably damaging	Het
Hpdl	A	G	4: 116,678,062 (GRCm39)	L133P	probably damaging	Het
Ighv1-75	A	G	12: 115,797,655 (GRCm39)	L89P	probably damaging	Het
Igsf21	T	A	4: 139,755,407 (GRCm39)	Q416L	probably damaging	Het
Il23a	G	C	10: 128,132,829 (GRCm39)	R143G	probably benign	Het
Ildr1	A	G	16: 36,528,659 (GRCm39)	T35A	probably benign	Het
Ints13	G	T	6: 146,463,326 (GRCm39)	H235Q	probably damaging	Het
Lama4	C	T	10: 38,924,101 (GRCm39)	T503I	probably benign	Het
Mapk13	T	A	17: 28,997,075 (GRCm39)	L289Q	probably damaging	Het
Med13l	T	C	5: 118,887,024 (GRCm39)	S1642P	probably benign	Het
Megf6	T	A	4: 154,343,617 (GRCm39)	S713R	probably damaging	Het
Mical3	A	G	6: 120,959,529 (GRCm39)	V922A	possibly damaging	Het
Mug1	C	T	6: 121,857,864 (GRCm39)	T1119M	probably damaging	Het
Myo18a	T	A	11: 77,733,080 (GRCm39)	M1370K	possibly damaging	Het
Ndufa12	A	G	10: 94,056,692 (GRCm39)	E140G	probably damaging	Het
Nek4	T	A	14: 30,706,401 (GRCm39)	D696E	probably benign	Het
Oas1f	A	G	5: 120,994,429 (GRCm39)	T317A	probably benign	Het
Or14c39	T	C	7: 86,343,988 (GRCm39)	V108A	probably benign	Het
Or2r11	A	G	6: 42,437,029 (GRCm39)	I308T	probably benign	Het
Or6c210	T	C	10: 129,495,705 (GRCm39)	I10T	probably benign	Het
Pcdh17	C	T	14: 84,683,683 (GRCm39)	P50L	probably benign	Het
Pgs1	A	G	11: 117,894,256 (GRCm39)	E261G	probably benign	Het
Pira12	T	G	7: 3,897,612 (GRCm39)	R494S	probably damaging	Het
Ppp1r1a	T	C	15: 103,439,857 (GRCm39)	E145G	possibly damaging	Het
Ppp1r37	T	C	7: 19,295,783 (GRCm39)	E58G	probably benign	Het
Ptprc	A	T	1: 138,047,901 (GRCm39)	V77E		Het
Rhag	A	G	17: 41,139,416 (GRCm39)	E117G	probably benign	Het
Sh3d19	C	T	3: 86,028,483 (GRCm39)	S653L	probably benign	Het
Sirpd	C	A	3: 15,385,813 (GRCm39)	E30*	probably null	Het
Slc35a5	C	T	16: 44,972,939 (GRCm39)		probably null	Het
Smc4	C	T	3: 68,929,655 (GRCm39)	R510*	probably null	Het
Sorcs1	A	G	19: 50,248,190 (GRCm39)		probably null	Het
Sp140	A	G	1: 85,569,461 (GRCm39)	N357S	probably damaging	Het
Spic	T	A	10: 88,514,421 (GRCm39)	T60S	possibly damaging	Het
Steap1	C	A	5: 5,786,517 (GRCm39)	A307S	probably benign	Het
Stk3	A	T	15: 35,114,791 (GRCm39)	S40R	probably damaging	Het
Taar1	T	C	10: 23,796,676 (GRCm39)	C125R	probably damaging	Het
Tep1	T	A	14: 51,076,443 (GRCm39)	K1664*	probably null	Het
Tmem198b	C	A	10: 128,638,273 (GRCm39)	V97L	possibly damaging	Het
Xirp2	C	A	2: 67,347,379 (GRCm39)	P3207T	possibly damaging	Het
Zbtb38	C	G	9: 96,570,355 (GRCm39)	S243T	possibly damaging	Het
Zbtb38	T	A	9: 96,570,356 (GRCm39)	S243C	probably damaging	Het
Zfp692	C	T	11: 58,199,638 (GRCm39)	R76W	probably benign	Het
Zwilch	A	T	9: 64,054,170 (GRCm39)	L509H	probably damaging	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
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
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'- AGCCAAAGTAGGAGATAGCCTC -3'
(R):5'- ACAGAGCTCTCTCCTACTTGTG -3'

Sequencing Primer
(F):5'- TCCACATCACCTTGGCTGGG -3'
(R):5'- CTACTTGTGTAGGGGTGGGTG -3'

Posted On

2022-11-14