Mutagenetix > Incidental Mutation

Incidental Mutation 'R3980:Glb1'

311262

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

040843-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114230146-114303447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114246132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 61 (I61K)

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: I61K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055803
Gene: ENSMUSG00000045594
AA Change: I61K

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: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,454,792 (GRCm39)	G268R	probably damaging	Het
Amacr	T	A	15: 10,989,015 (GRCm39)	Y240*	probably null	Het
Ankhd1	A	T	18: 36,780,666 (GRCm39)	H1906L	probably damaging	Het
Arhgef25	C	A	10: 127,023,089 (GRCm39)	C106F	probably damaging	Het
Bean1	A	T	8: 104,937,730 (GRCm39)	Q103L	possibly damaging	Het
Ccr9	A	T	9: 123,608,441 (GRCm39)	N41I	probably benign	Het
Ceacam16	A	G	7: 19,592,558 (GRCm39)	F117L	probably benign	Het
Col4a1	T	C	8: 11,289,155 (GRCm39)		probably benign	Het
Csk	A	G	9: 57,538,063 (GRCm39)	Y48H	probably damaging	Het
Csmd1	T	A	8: 15,956,056 (GRCm39)	K3384*	probably null	Het
Ctnnd2	T	A	15: 30,669,589 (GRCm39)	H399Q	probably benign	Het
Cutal	T	C	2: 34,772,325 (GRCm39)	Y30H	possibly damaging	Het
Cybb	T	C	X: 9,310,827 (GRCm39)	Y425C	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Defb30	C	A	14: 63,273,421 (GRCm39)	C64F	probably damaging	Het
Eif2a	T	C	3: 58,446,960 (GRCm39)	I45T	probably benign	Het
Esyt1	T	A	10: 128,347,393 (GRCm39)	D1044V	probably damaging	Het
Gabpb2	A	T	3: 95,096,081 (GRCm39)	V382E	probably damaging	Het
Insyn2b	G	A	11: 34,352,678 (GRCm39)	C240Y	probably benign	Het
Kcnt1	T	C	2: 25,783,226 (GRCm39)	V263A	possibly damaging	Het
Kdm5b	A	G	1: 134,547,408 (GRCm39)	D1019G	probably benign	Het
Klhl2	A	T	8: 65,196,109 (GRCm39)	L545M	probably damaging	Het
Klhl2	C	A	8: 65,196,115 (GRCm39)	G543C	probably damaging	Het
Krt31	G	T	11: 99,939,030 (GRCm39)	Q264K	probably damaging	Het
Lmnb1	A	G	18: 56,864,091 (GRCm39)	D232G	probably damaging	Het
Loxhd1	T	C	18: 77,501,855 (GRCm39)	F859L	probably damaging	Het
Map7	C	A	10: 20,143,099 (GRCm39)	T416K	unknown	Het
Med18	T	A	4: 132,190,251 (GRCm39)	I45F	probably benign	Het
Mn1	A	T	5: 111,569,636 (GRCm39)	H1202L	possibly damaging	Het
Mpp7	T	C	18: 7,444,062 (GRCm39)	D120G	probably benign	Het
Nlrp1b	A	T	11: 71,072,437 (GRCm39)	F469I	possibly damaging	Het
Nos3	T	A	5: 24,582,929 (GRCm39)	D685E	probably damaging	Het
Nrap	G	A	19: 56,369,984 (GRCm39)	A206V	probably benign	Het
Nuggc	T	C	14: 65,856,542 (GRCm39)		probably null	Het
Oasl1	C	T	5: 115,070,957 (GRCm39)	T274I	probably damaging	Het
Or10ak12	T	A	4: 118,666,500 (GRCm39)	Y187F	probably benign	Het
Or51a25	T	C	7: 102,372,959 (GRCm39)	N246S	probably damaging	Het
Parp3	T	C	9: 106,351,267 (GRCm39)	D278G	probably damaging	Het
Phc3	T	A	3: 30,991,080 (GRCm39)	Q346L	probably damaging	Het
Pigo	A	G	4: 43,019,231 (GRCm39)	L1029P	probably damaging	Het
Plcb3	A	G	19: 6,943,803 (GRCm39)	I66T	probably damaging	Het
Plch2	T	C	4: 155,069,255 (GRCm39)	S1019G	probably benign	Het
Plekhg6	C	A	6: 125,350,146 (GRCm39)	C264F	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pou4f2	G	T	8: 79,162,067 (GRCm39)	H179N	possibly damaging	Het
Prpf39	T	C	12: 65,108,231 (GRCm39)		probably benign	Het
Rapgef1	G	A	2: 29,609,662 (GRCm39)	V700I	probably benign	Het
Rdh14	A	G	12: 10,444,703 (GRCm39)	I185V	probably benign	Het
Rnf111	A	T	9: 70,349,607 (GRCm39)	H785Q	probably damaging	Het
Rttn	C	T	18: 89,035,399 (GRCm39)	R758W	probably benign	Het
Sik3	G	A	9: 46,113,361 (GRCm39)	V601M	probably damaging	Het
Slc22a14	T	C	9: 119,007,552 (GRCm39)	T286A	probably benign	Het
Slc36a3	G	A	11: 55,026,209 (GRCm39)	T203I	probably benign	Het
Spata31	A	T	13: 65,070,468 (GRCm39)	Q872L	probably benign	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Sphkap	A	T	1: 83,245,215 (GRCm39)		probably null	Het
Stat6	T	C	10: 127,491,248 (GRCm39)	V463A	probably damaging	Het
Stx7	T	C	10: 24,060,947 (GRCm39)	S225P	probably damaging	Het
Sult2a7	A	T	7: 14,207,334 (GRCm39)		probably benign	Het
Tada2a	A	T	11: 83,993,946 (GRCm39)	F179L	probably benign	Het
Tas2r103	A	G	6: 133,013,280 (GRCm39)	L262P	probably benign	Het
Tfap2d	A	G	1: 19,236,187 (GRCm39)	I382V	possibly damaging	Het
Tshr	C	A	12: 91,504,517 (GRCm39)	A485D	probably damaging	Het
Vmn1r32	T	A	6: 66,530,698 (GRCm39)	Y26F	probably damaging	Het
Vmn1r5	A	G	6: 56,962,636 (GRCm39)	T104A	probably damaging	Het
Wbp1l	T	A	19: 46,642,396 (GRCm39)		probably null	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
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'- TGTAACTTAATCGAAAAGCACCCG -3'
(R):5'- TCGCTCTCTTTAGAAAGGCC -3'

Sequencing Primer
(F):5'- GAAAAGCACCCGCCCCC -3'
(R):5'- TCTCTTTAGAAAGGCCAGTCAAACTC -3'

Posted On

2015-04-29