Mutagenetix > Incidental Mutation

Incidental Mutation 'R8087:Glb1'

629722

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

067520-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8087 (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 114259483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 220 (T220S)

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: T220S

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

SMART Domains

Protein: ENSMUSP00000055803
Gene: ENSMUSG00000045594
AA Change: T220S

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 damaging
Transcript: ENSMUST00000217583
AA Change: T138S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.7%
20x: 83.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	A	G	7: 126,430,052 (GRCm39)	V73A	possibly damaging	Het
Abcg1	T	C	17: 31,283,459 (GRCm39)	L48P	probably benign	Het
Ablim1	A	G	19: 57,170,688 (GRCm39)	W18R		Het
Acss1	A	G	2: 150,484,668 (GRCm39)	F192L	probably damaging	Het
Arhgap32	A	G	9: 32,168,324 (GRCm39)	N769S	probably benign	Het
BC004004	T	A	17: 29,513,064 (GRCm39)	L163I	probably damaging	Het
Bco1	A	T	8: 117,835,501 (GRCm39)	T151S	possibly damaging	Het
Btbd8	T	A	5: 107,632,953 (GRCm39)	Y264N	probably damaging	Het
C1ra	G	A	6: 124,490,831 (GRCm39)	V75I	probably damaging	Het
Cadps	A	C	14: 12,536,380 (GRCm38)	W527G	probably damaging	Het
Calca	T	C	7: 114,231,809 (GRCm39)	N85D	probably benign	Het
Capn13	A	G	17: 73,623,279 (GRCm39)	L644P	probably damaging	Het
Ccdc57	T	C	11: 120,788,705 (GRCm39)	I381V	probably benign	Het
Ccr1	A	G	9: 123,764,371 (GRCm39)	V53A	probably benign	Het
Cd27	G	T	6: 125,210,325 (GRCm39)	A234D	possibly damaging	Het
Cnpy4	T	A	5: 138,188,532 (GRCm39)	V46E	probably damaging	Het
Cspp1	T	G	1: 10,174,489 (GRCm39)	D647E	possibly damaging	Het
Ctnnd1	A	T	2: 84,441,220 (GRCm39)	F660I	possibly damaging	Het
Dchs1	A	T	7: 105,402,706 (GRCm39)	S3279T	probably benign	Het
Ddx11	T	A	17: 66,456,988 (GRCm39)	Y772N	probably damaging	Het
Dennd11	T	A	6: 40,395,526 (GRCm39)	D194V	possibly damaging	Het
Dgkd	T	A	1: 87,844,569 (GRCm39)	V245E	probably damaging	Het
Dmgdh	C	T	13: 93,840,379 (GRCm39)	T270I	possibly damaging	Het
Elac2	A	G	11: 64,870,034 (GRCm39)	H33R	probably benign	Het
Emilin1	T	A	5: 31,074,444 (GRCm39)	D228E	probably damaging	Het
F2rl1	A	G	13: 95,650,507 (GRCm39)	L125P	probably damaging	Het
Fam186a	A	G	15: 99,839,725 (GRCm39)	V2173A	possibly damaging	Het
Foxp4	C	A	17: 48,215,355 (GRCm39)	G30C	probably damaging	Het
Fyn	T	A	10: 39,405,553 (GRCm39)	L273*	probably null	Het
Garnl3	G	T	2: 32,935,548 (GRCm39)	D196E	probably benign	Het
Hsdl2	G	T	4: 59,592,228 (GRCm39)	A31S	unknown	Het
Irak3	T	A	10: 120,018,440 (GRCm39)	I103F	probably benign	Het
Khdrbs2	A	T	1: 32,454,057 (GRCm39)	M148L	probably benign	Het
Kif2c	A	T	4: 117,022,615 (GRCm39)	S500R	possibly damaging	Het
Kmt2c	T	C	5: 25,534,250 (GRCm39)	Y1500C	probably damaging	Het
Lrp2	T	C	2: 69,278,473 (GRCm39)	D3960G	probably damaging	Het
Map2k6	A	T	11: 110,381,002 (GRCm39)	I39L	probably benign	Het
Muc13	G	T	16: 33,619,397 (GRCm39)	Q48H	unknown	Het
Nlrp1b	A	T	11: 71,062,897 (GRCm39)	I721N	probably benign	Het
Ntsr1	A	T	2: 180,141,965 (GRCm39)		probably benign	Het
Nubp1	T	C	16: 10,238,212 (GRCm39)		probably null	Het
Or2h2c	T	C	17: 37,422,440 (GRCm39)	I145V	probably benign	Het
Ovol3	A	C	7: 29,933,797 (GRCm39)	D108E	probably damaging	Het
Pcdhb4	C	A	18: 37,441,717 (GRCm39)	N342K	probably damaging	Het
Pcgf3	A	G	5: 108,634,102 (GRCm39)	D120G	probably benign	Het
Pde6b	T	C	5: 108,536,328 (GRCm39)	V8A	probably benign	Het
Pkhd1	G	T	1: 20,593,313 (GRCm39)	T1600K	probably damaging	Het
Pkp3	A	G	7: 140,667,551 (GRCm39)	I451V	possibly damaging	Het
Plce1	A	G	19: 38,724,965 (GRCm39)	T1439A	probably damaging	Het
Prr27	C	A	5: 87,994,168 (GRCm39)	N347K	probably benign	Het
Prss41	T	C	17: 24,056,076 (GRCm39)	Y259C	probably damaging	Het
Rasgef1b	T	C	5: 99,369,248 (GRCm39)	I457V	probably benign	Het
Rspry1	G	A	8: 95,380,925 (GRCm39)	V534M	probably benign	Het
Rxrb	T	C	17: 34,254,763 (GRCm39)	V306A	probably benign	Het
Sim1	T	C	10: 50,785,651 (GRCm39)	M240T	possibly damaging	Het
Slc22a4	A	T	11: 53,886,887 (GRCm39)	I285K	possibly damaging	Het
Slc4a2	GGCAGCAGCAGCAGCAGCA	GGCAGCAGCAGCAGCA	5: 24,643,747 (GRCm39)		probably benign	Het
Snx19	T	C	9: 30,375,698 (GRCm39)	M993T	probably benign	Het
Sstr2	G	A	11: 113,515,501 (GRCm39)	R140H	probably damaging	Het
Syne1	C	T	10: 5,283,034 (GRCm39)	R1553Q	probably benign	Het
Tchp	T	C	5: 114,857,665 (GRCm39)	I386T	probably damaging	Het
Tmem273	G	T	14: 32,507,926 (GRCm39)		probably benign	Het
Traf7	G	T	17: 24,731,038 (GRCm39)	S304R	possibly damaging	Het
Trcg1	C	T	9: 57,155,957 (GRCm39)	L798F	probably damaging	Het
Ttc3	C	T	16: 94,243,812 (GRCm39)	P1272L	probably benign	Het
Ttf2	G	T	3: 100,871,412 (GRCm39)	A83E	probably damaging	Het
Uba3	T	A	6: 97,162,344 (GRCm39)	I421F	possibly damaging	Het
Ube3b	T	C	5: 114,550,550 (GRCm39)		probably null	Het
Ulk4	A	G	9: 121,095,317 (GRCm39)	L112P	probably damaging	Het
Unc5a	A	G	13: 55,143,985 (GRCm39)	N150S	probably damaging	Het
Vac14	A	T	8: 111,446,532 (GRCm39)	K760N	probably benign	Het
Vmn2r113	A	T	17: 23,177,711 (GRCm39)	I832L	possibly damaging	Het
Vmn2r-ps158	A	T	7: 42,697,094 (GRCm39)	Y717F	probably benign	Het
Xpot	T	C	10: 121,437,232 (GRCm39)	I830V	probably benign	Het
Zfp101	G	A	17: 33,599,977 (GRCm39)	T593I	probably benign	Het
Zfp54	A	C	17: 21,655,260 (GRCm39)	T585P	probably damaging	Het
Zfp663	T	C	2: 165,195,679 (GRCm39)	D180G	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
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
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'- TGGCTTTATTGTGCATGCAC -3'
(R):5'- GTGGACAGAGCTCAGTAGAC -3'

Sequencing Primer
(F):5'- TGCACGCCAGACCAGTTCAG -3'
(R):5'- CAGAGCTCAGTAGACTTTAGGTCAC -3'

Posted On

2020-06-30