Incidental Mutation 'IGL02199:Glb1'
| ID |
284215 |
| 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 # |
IGL02199
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
114230146-114303447 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114303015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 617
(N617S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063042]
[ENSMUST00000217583]
|
| AlphaFold |
P23780 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063042
AA Change: N617S
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000055803
Gene: ENSMUSG00000045594
AA Change: N617S
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Aspg |
T |
C |
12: 112,087,426 (GRCm39) |
V294A |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,907,957 (GRCm39) |
|
probably benign |
Het |
| Celf5 |
T |
A |
10: 81,318,318 (GRCm39) |
D41V |
possibly damaging |
Het |
| Clcn3 |
T |
A |
8: 61,386,126 (GRCm39) |
K282* |
probably null |
Het |
| Clcn3 |
T |
A |
8: 61,380,308 (GRCm39) |
T543S |
possibly damaging |
Het |
| Ctsj |
T |
A |
13: 61,150,351 (GRCm39) |
N216I |
probably damaging |
Het |
| Dusp28 |
A |
G |
1: 92,835,280 (GRCm39) |
|
probably benign |
Het |
| Fbp1 |
A |
G |
13: 63,015,193 (GRCm39) |
I262T |
probably damaging |
Het |
| Gata4 |
A |
G |
14: 63,437,912 (GRCm39) |
V413A |
possibly damaging |
Het |
| Gm454 |
T |
A |
5: 138,202,285 (GRCm39) |
|
noncoding transcript |
Het |
| Hesx1 |
A |
G |
14: 26,723,481 (GRCm39) |
S104G |
probably benign |
Het |
| Igf2bp3 |
T |
C |
6: 49,065,458 (GRCm39) |
N478S |
probably benign |
Het |
| Klrk1 |
T |
C |
6: 129,598,207 (GRCm39) |
|
probably null |
Het |
| Lamb2 |
A |
G |
9: 108,357,824 (GRCm39) |
T116A |
possibly damaging |
Het |
| Mbd2 |
T |
C |
18: 70,726,371 (GRCm39) |
V270A |
probably damaging |
Het |
| Meis2 |
C |
T |
2: 115,830,737 (GRCm39) |
V259I |
probably benign |
Het |
| Mtcl2 |
A |
T |
2: 156,872,865 (GRCm39) |
L882Q |
probably damaging |
Het |
| Ngly1 |
T |
A |
14: 16,290,844 (GRCm38) |
I442K |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 90,344,686 (GRCm39) |
L409P |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,926,775 (GRCm39) |
V1175I |
possibly damaging |
Het |
| Parp12 |
C |
T |
6: 39,073,524 (GRCm39) |
A434T |
probably benign |
Het |
| Prrt3 |
G |
A |
6: 113,471,770 (GRCm39) |
P801S |
probably damaging |
Het |
| Rps6ka2 |
G |
T |
17: 7,521,852 (GRCm39) |
|
probably benign |
Het |
| Slc18a1 |
C |
A |
8: 69,496,632 (GRCm39) |
V344L |
probably benign |
Het |
| Spg11 |
T |
A |
2: 121,890,034 (GRCm39) |
T2103S |
probably damaging |
Het |
| Stoml2 |
A |
G |
4: 43,029,366 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
G |
12: 91,505,057 (GRCm39) |
L73R |
probably damaging |
Het |
| Ylpm1 |
C |
T |
12: 85,080,779 (GRCm39) |
Q786* |
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 |
|
|
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 |
|
|
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 |
Incidental Mutation