Incidental Mutation 'IGL01720:Glb1'
ID |
105083 |
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 # |
IGL01720
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
114230146-114303447 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 114249573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055803
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063042]
[ENSMUST00000063042]
[ENSMUST00000063042]
[ENSMUST00000217583]
|
AlphaFold |
P23780 |
Predicted Effect |
probably null
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 null
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 null
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
G |
A |
6: 85,605,076 (GRCm39) |
R1773Q |
probably benign |
Het |
Apc2 |
T |
C |
10: 80,150,333 (GRCm39) |
S1796P |
probably benign |
Het |
Asxl3 |
A |
T |
18: 22,658,382 (GRCm39) |
I2131F |
probably damaging |
Het |
Cdc42bpa |
T |
A |
1: 179,938,847 (GRCm39) |
D833E |
probably damaging |
Het |
Cenpc1 |
A |
G |
5: 86,193,284 (GRCm39) |
S202P |
possibly damaging |
Het |
Cenpf |
T |
C |
1: 189,414,583 (GRCm39) |
E178G |
probably benign |
Het |
Cenpf |
T |
C |
1: 189,383,412 (GRCm39) |
Y2636C |
probably damaging |
Het |
Cfap251 |
A |
G |
5: 123,460,557 (GRCm39) |
D1173G |
probably benign |
Het |
Chkb |
C |
T |
15: 89,312,155 (GRCm39) |
|
probably null |
Het |
Cldn20 |
A |
G |
17: 3,583,375 (GRCm39) |
T183A |
probably benign |
Het |
Cpne8 |
C |
T |
15: 90,385,703 (GRCm39) |
V442I |
probably benign |
Het |
Cx3cl1 |
T |
A |
8: 95,504,701 (GRCm39) |
M39K |
probably damaging |
Het |
Dgkd |
T |
A |
1: 87,864,487 (GRCm39) |
L124Q |
probably damaging |
Het |
Duxf4 |
A |
C |
10: 58,072,211 (GRCm39) |
M1R |
probably null |
Het |
Fam180a |
T |
C |
6: 35,290,500 (GRCm39) |
H161R |
probably benign |
Het |
Galt |
C |
A |
4: 41,757,463 (GRCm39) |
R212S |
probably damaging |
Het |
Gja10 |
T |
C |
4: 32,601,007 (GRCm39) |
D459G |
probably benign |
Het |
Gm5709 |
A |
T |
3: 59,513,975 (GRCm39) |
|
noncoding transcript |
Het |
Igf2r |
A |
G |
17: 12,920,200 (GRCm39) |
Y1380H |
probably damaging |
Het |
Jag1 |
C |
T |
2: 136,929,023 (GRCm39) |
G811D |
probably damaging |
Het |
Lrguk |
T |
C |
6: 34,020,412 (GRCm39) |
F52S |
probably damaging |
Het |
Lrrc15 |
A |
T |
16: 30,092,138 (GRCm39) |
N400K |
probably benign |
Het |
Map3k12 |
A |
G |
15: 102,410,621 (GRCm39) |
|
probably benign |
Het |
Mbnl2 |
C |
T |
14: 120,562,682 (GRCm39) |
T11I |
probably damaging |
Het |
Mettl22 |
T |
C |
16: 8,302,117 (GRCm39) |
|
probably benign |
Het |
Mgat4a |
G |
A |
1: 37,483,979 (GRCm39) |
A497V |
probably damaging |
Het |
Mrpl49 |
C |
A |
19: 6,105,187 (GRCm39) |
M91I |
possibly damaging |
Het |
Or2ag18 |
A |
T |
7: 106,405,416 (GRCm39) |
D84E |
probably damaging |
Het |
Or2q1 |
G |
A |
6: 42,794,527 (GRCm39) |
V41I |
probably benign |
Het |
Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
Ppp1r13b |
T |
C |
12: 111,824,694 (GRCm39) |
T102A |
probably benign |
Het |
Pramel23 |
T |
A |
4: 143,423,410 (GRCm39) |
|
probably benign |
Het |
Prodh2 |
A |
G |
7: 30,210,628 (GRCm39) |
D393G |
probably damaging |
Het |
Pyroxd1 |
A |
G |
6: 142,296,784 (GRCm39) |
|
probably benign |
Het |
Rad17 |
A |
T |
13: 100,759,366 (GRCm39) |
C554S |
possibly damaging |
Het |
Rapgef5 |
T |
C |
12: 117,577,055 (GRCm39) |
|
probably benign |
Het |
Setdb2 |
A |
G |
14: 59,660,885 (GRCm39) |
V86A |
possibly damaging |
Het |
Slc38a2 |
A |
T |
15: 96,589,092 (GRCm39) |
|
probably benign |
Het |
Slc9c1 |
A |
G |
16: 45,376,132 (GRCm39) |
Y406C |
probably damaging |
Het |
Slit1 |
T |
C |
19: 41,622,653 (GRCm39) |
D702G |
probably benign |
Het |
Stat3 |
T |
C |
11: 100,794,484 (GRCm39) |
H275R |
possibly damaging |
Het |
Susd5 |
T |
A |
9: 113,893,052 (GRCm39) |
N43K |
possibly damaging |
Het |
Ttc3 |
A |
T |
16: 94,186,228 (GRCm39) |
K124N |
probably damaging |
Het |
Usp36 |
C |
A |
11: 118,165,828 (GRCm39) |
R165L |
probably damaging |
Het |
Vwf |
G |
A |
6: 125,619,798 (GRCm39) |
R1492Q |
possibly damaging |
Het |
Zbed6 |
A |
G |
1: 133,585,264 (GRCm39) |
V691A |
possibly 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 |
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 |
2014-01-21 |