Incidental Mutation 'R5349:Glb1'
| ID |
422772 |
| 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 |
042928-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5349 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| 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 114263529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[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 benign
Transcript: ENSMUST00000217583
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
T |
C |
19: 4,917,986 (GRCm39) |
E327G |
possibly damaging |
Het |
| Cd209d |
T |
G |
8: 3,928,320 (GRCm39) |
M22L |
probably benign |
Het |
| Chrna2 |
T |
C |
14: 66,380,956 (GRCm39) |
V75A |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,450,462 (GRCm39) |
E642G |
possibly damaging |
Het |
| Diaph1 |
A |
G |
18: 38,024,125 (GRCm39) |
V571A |
unknown |
Het |
| Dip2c |
C |
A |
13: 9,672,689 (GRCm39) |
H1032N |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,694 (GRCm39) |
D385V |
probably damaging |
Het |
| Fbxl3 |
T |
C |
14: 103,333,012 (GRCm39) |
|
probably benign |
Het |
| Gm8220 |
T |
C |
14: 44,525,634 (GRCm39) |
I101T |
probably benign |
Het |
| Grin2b |
A |
G |
6: 136,021,281 (GRCm39) |
C7R |
possibly damaging |
Het |
| Myo15a |
T |
C |
11: 60,384,409 (GRCm39) |
I516T |
probably damaging |
Het |
| Nr1i3 |
A |
G |
1: 171,042,641 (GRCm39) |
D89G |
possibly damaging |
Het |
| Ogfod1 |
T |
G |
8: 94,781,876 (GRCm39) |
|
probably benign |
Het |
| Or4k2 |
G |
T |
14: 50,424,230 (GRCm39) |
S148* |
probably null |
Het |
| Pard3 |
G |
T |
8: 128,142,224 (GRCm39) |
D930Y |
probably damaging |
Het |
| Pde7b |
C |
T |
10: 20,494,932 (GRCm39) |
C9Y |
probably damaging |
Het |
| Pilra |
T |
A |
5: 137,829,488 (GRCm39) |
D192V |
probably damaging |
Het |
| Ptprj |
A |
G |
2: 90,301,605 (GRCm39) |
S176P |
probably benign |
Het |
| Slc4a2 |
T |
C |
5: 24,640,633 (GRCm39) |
V685A |
possibly damaging |
Het |
| Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,740,951 (GRCm39) |
F44L |
possibly damaging |
Het |
| Tlr11 |
T |
C |
14: 50,598,337 (GRCm39) |
F108L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,638,450 (GRCm39) |
I13943M |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,710,856 (GRCm39) |
D2577G |
probably damaging |
Het |
| Zyg11a |
A |
T |
4: 108,040,929 (GRCm39) |
F675I |
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 |
|
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 |
|
|
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'- CACTTCTCAGACATTCCTATTTGGG -3'
(R):5'- AGAGCTTTAGTCTCCAAACTGG -3'
Sequencing Primer
(F):5'- GACATTCCTATTTGGGATTATAGTCC -3'
(R):5'- ATCCAGCTGTCACTCAGGAGTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation