Incidental Mutation 'IGL02613:Glb1'
ID |
300560 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Glb1
|
Ensembl Gene |
ENSMUSG00000045594 |
Gene Name |
galactosidase, beta 1 |
Synonyms |
Bgl-s, Bgl, C130097A14Rik, Bge, Bgl-t, Bgl-e, Bgs, Bgt |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02613
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
114230146-114303447 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 114293130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 502
(T502A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055803
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063042]
[ENSMUST00000217583]
|
AlphaFold |
P23780 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063042
AA Change: T502A
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000055803 Gene: ENSMUSG00000045594 AA Change: T502A
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 |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
T |
G |
15: 64,655,833 (GRCm39) |
I549L |
possibly damaging |
Het |
Arhgef17 |
A |
T |
7: 100,578,103 (GRCm39) |
H948Q |
probably damaging |
Het |
Auh |
A |
G |
13: 53,073,035 (GRCm39) |
|
probably null |
Het |
Btf3 |
A |
G |
13: 98,446,714 (GRCm39) |
|
probably benign |
Het |
Capg |
A |
G |
6: 72,532,594 (GRCm39) |
N53S |
probably damaging |
Het |
Cfap70 |
T |
C |
14: 20,459,132 (GRCm39) |
|
probably null |
Het |
Chrna5 |
A |
T |
9: 54,913,705 (GRCm39) |
E417V |
probably damaging |
Het |
Coch |
A |
G |
12: 51,642,132 (GRCm39) |
T35A |
possibly damaging |
Het |
Dock4 |
T |
A |
12: 40,860,465 (GRCm39) |
L1284M |
probably damaging |
Het |
Etv3 |
A |
G |
3: 87,443,702 (GRCm39) |
T429A |
possibly damaging |
Het |
Fmnl2 |
T |
C |
2: 52,963,747 (GRCm39) |
|
probably null |
Het |
Greb1 |
C |
A |
12: 16,789,889 (GRCm39) |
|
probably null |
Het |
Hspg2 |
A |
G |
4: 137,271,731 (GRCm39) |
Y2499C |
probably damaging |
Het |
Kcnq1 |
A |
T |
7: 142,979,863 (GRCm39) |
|
probably benign |
Het |
Lrriq1 |
A |
G |
10: 102,980,409 (GRCm39) |
S1497P |
probably damaging |
Het |
Magel2 |
G |
A |
7: 62,029,946 (GRCm39) |
R950H |
unknown |
Het |
Mcc |
A |
G |
18: 44,563,021 (GRCm39) |
L982P |
probably damaging |
Het |
Naif1 |
T |
A |
2: 32,345,172 (GRCm39) |
M292K |
possibly damaging |
Het |
Npb |
T |
A |
11: 120,499,716 (GRCm39) |
C99S |
probably damaging |
Het |
Obscn |
G |
T |
11: 58,892,958 (GRCm39) |
R6763S |
probably benign |
Het |
Or13a21 |
A |
G |
7: 139,999,383 (GRCm39) |
V101A |
probably benign |
Het |
Or5p56 |
C |
T |
7: 107,590,381 (GRCm39) |
Q270* |
probably null |
Het |
Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
Pitpnm3 |
A |
T |
11: 71,948,898 (GRCm39) |
S736T |
probably damaging |
Het |
Polr1a |
A |
T |
6: 71,944,304 (GRCm39) |
E1257V |
probably damaging |
Het |
Sec63 |
G |
A |
10: 42,677,703 (GRCm39) |
D270N |
probably damaging |
Het |
Snrnp200 |
C |
T |
2: 127,060,346 (GRCm39) |
T530I |
probably damaging |
Het |
Sorbs1 |
A |
T |
19: 40,315,991 (GRCm39) |
N383K |
probably damaging |
Het |
Syk |
G |
A |
13: 52,797,076 (GRCm39) |
G546R |
probably damaging |
Het |
Tfap2d |
T |
A |
1: 19,189,415 (GRCm39) |
L265Q |
probably damaging |
Het |
Trav12-1 |
C |
T |
14: 53,775,742 (GRCm39) |
S9L |
possibly damaging |
Het |
Trerf1 |
T |
C |
17: 47,659,766 (GRCm39) |
|
noncoding transcript |
Het |
Ttn |
T |
A |
2: 76,558,704 (GRCm39) |
I29726L |
possibly damaging |
Het |
Usp18 |
A |
G |
6: 121,238,049 (GRCm39) |
T143A |
probably benign |
Het |
Usp32 |
A |
T |
11: 84,930,896 (GRCm39) |
N511K |
probably damaging |
Het |
Wdr64 |
C |
T |
1: 175,594,613 (GRCm39) |
Q4* |
probably null |
Het |
Zfp277 |
A |
G |
12: 40,379,514 (GRCm39) |
F340S |
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 |
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 |
|
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 |
|
Posted On |
2015-04-16 |