Incidental Mutation 'IGL01448:Glb1'
ID |
84541 |
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 # |
IGL01448
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
114230146-114303447 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 114279745 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149937
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063042]
[ENSMUST00000217583]
|
AlphaFold |
P23780 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063042
|
SMART Domains |
Protein: ENSMUSP00000055803 Gene: ENSMUSG00000045594
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020A23Rik |
A |
T |
2: 130,247,767 (GRCm39) |
E75D |
possibly damaging |
Het |
1700084J12Rik |
A |
G |
15: 33,405,779 (GRCm39) |
|
probably benign |
Het |
2610303G11Rik |
T |
A |
9: 98,068,762 (GRCm39) |
|
noncoding transcript |
Het |
4931414P19Rik |
T |
C |
14: 54,823,417 (GRCm39) |
D320G |
possibly damaging |
Het |
Adamts6 |
G |
A |
13: 104,433,672 (GRCm39) |
E34K |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,654,881 (GRCm39) |
N3142K |
possibly damaging |
Het |
Anapc7 |
G |
A |
5: 122,566,276 (GRCm39) |
A62T |
probably damaging |
Het |
Atp8b3 |
G |
A |
10: 80,356,256 (GRCm39) |
P1152L |
probably benign |
Het |
Cc2d2a |
C |
T |
5: 43,841,527 (GRCm39) |
T181I |
possibly damaging |
Het |
Celsr2 |
A |
G |
3: 108,300,555 (GRCm39) |
L2835P |
probably damaging |
Het |
Ctns |
A |
T |
11: 73,079,548 (GRCm39) |
V99D |
possibly damaging |
Het |
Dchs1 |
T |
C |
7: 105,421,134 (GRCm39) |
R429G |
probably damaging |
Het |
Ddx11 |
T |
C |
17: 66,441,132 (GRCm39) |
V218A |
probably damaging |
Het |
Eftud2 |
G |
A |
11: 102,756,389 (GRCm39) |
|
probably benign |
Het |
Erich1 |
G |
T |
8: 14,128,853 (GRCm39) |
T29N |
possibly damaging |
Het |
Exosc8 |
T |
C |
3: 54,636,686 (GRCm39) |
E215G |
probably damaging |
Het |
Fam184a |
G |
T |
10: 53,575,045 (GRCm39) |
A188E |
probably benign |
Het |
Fign |
A |
G |
2: 63,810,032 (GRCm39) |
S413P |
probably damaging |
Het |
Fkbp6 |
A |
G |
5: 135,378,550 (GRCm39) |
S33P |
probably damaging |
Het |
H2-Q1 |
T |
C |
17: 35,542,437 (GRCm39) |
|
probably benign |
Het |
Helz2 |
T |
C |
2: 180,875,770 (GRCm39) |
T1575A |
probably damaging |
Het |
Il18r1 |
A |
G |
1: 40,513,890 (GRCm39) |
E32G |
probably damaging |
Het |
Ints5 |
C |
T |
19: 8,872,851 (GRCm39) |
P270L |
possibly damaging |
Het |
Itga7 |
G |
T |
10: 128,785,337 (GRCm39) |
E847* |
probably null |
Het |
Kcns3 |
A |
C |
12: 11,141,644 (GRCm39) |
S352A |
possibly damaging |
Het |
Kiz |
A |
G |
2: 146,705,721 (GRCm39) |
K94E |
probably benign |
Het |
Lin7b |
C |
T |
7: 45,018,624 (GRCm39) |
V12M |
probably damaging |
Het |
Myo18b |
A |
T |
5: 112,959,570 (GRCm39) |
I1409N |
probably damaging |
Het |
Myo5b |
A |
G |
18: 74,777,161 (GRCm39) |
H407R |
probably damaging |
Het |
Nelfa |
T |
C |
5: 34,056,146 (GRCm39) |
T506A |
probably damaging |
Het |
Or10p21 |
A |
G |
10: 128,847,729 (GRCm39) |
T192A |
probably damaging |
Het |
Or4d5 |
A |
T |
9: 40,012,378 (GRCm39) |
M136K |
probably damaging |
Het |
Or5p72 |
T |
A |
7: 108,022,235 (GRCm39) |
Y152* |
probably null |
Het |
Or6c69 |
A |
G |
10: 129,748,114 (GRCm39) |
I11T |
possibly damaging |
Het |
Pclo |
A |
C |
5: 14,726,408 (GRCm39) |
|
probably benign |
Het |
Pes1 |
G |
A |
11: 3,927,979 (GRCm39) |
E544K |
possibly damaging |
Het |
Rabgap1l |
A |
G |
1: 160,568,315 (GRCm39) |
|
probably benign |
Het |
Rapgef2 |
T |
C |
3: 78,976,244 (GRCm39) |
M1521V |
probably benign |
Het |
Rapgef2 |
C |
T |
3: 79,011,269 (GRCm39) |
|
probably null |
Het |
Reln |
A |
G |
5: 22,245,403 (GRCm39) |
V735A |
probably benign |
Het |
Slc2a4 |
A |
G |
11: 69,835,902 (GRCm39) |
S316P |
possibly damaging |
Het |
Smarce1 |
C |
T |
11: 99,101,013 (GRCm39) |
G373E |
possibly damaging |
Het |
Spata31d1a |
T |
A |
13: 59,849,373 (GRCm39) |
R918S |
probably benign |
Het |
St3gal4 |
T |
C |
9: 34,963,627 (GRCm39) |
K227R |
probably benign |
Het |
Stra6l |
T |
A |
4: 45,864,864 (GRCm39) |
|
probably null |
Het |
Stxbp5l |
T |
C |
16: 37,036,341 (GRCm39) |
I425V |
probably damaging |
Het |
Tcaf2 |
T |
C |
6: 42,607,262 (GRCm39) |
T231A |
probably benign |
Het |
Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
Tnks |
A |
G |
8: 35,307,136 (GRCm39) |
Y1138H |
probably damaging |
Het |
Vezt |
T |
A |
10: 93,832,719 (GRCm39) |
I231F |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
Zbed3 |
A |
G |
13: 95,473,142 (GRCm39) |
K189E |
possibly damaging |
Het |
Zfp512b |
T |
C |
2: 181,229,578 (GRCm39) |
T625A |
possibly damaging |
Het |
Zfp827 |
A |
T |
8: 79,787,362 (GRCm39) |
Q176L |
possibly damaging |
Het |
|
Other mutations in Glb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2013-11-11 |