Incidental Mutation 'R2150:Glb1'
| ID |
234204 |
| 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 |
040153-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2150 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
114230146-114303447 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114279716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 375
(Y375H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063042]
[ENSMUST00000217583]
|
| AlphaFold |
P23780 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063042
AA Change: Y375H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055803
Gene: ENSMUSG00000045594
AA Change: Y375H
| 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
|
| Meta Mutation Damage Score |
0.1669 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
98% (59/60) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
C |
T |
8: 88,312,691 (GRCm39) |
Q159* |
probably null |
Het |
| Abca12 |
C |
A |
1: 71,302,647 (GRCm39) |
V2191L |
probably benign |
Het |
| Adam34 |
A |
G |
8: 44,105,538 (GRCm39) |
Y36H |
probably benign |
Het |
| Adprm |
A |
G |
11: 66,929,055 (GRCm39) |
V312A |
probably benign |
Het |
| Anapc2 |
T |
C |
2: 25,162,682 (GRCm39) |
L52P |
probably benign |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| Apoc4 |
T |
A |
7: 19,412,560 (GRCm39) |
T62S |
probably damaging |
Het |
| Arfgef1 |
C |
T |
1: 10,270,103 (GRCm39) |
A349T |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,027,436 (GRCm39) |
E2G |
possibly damaging |
Het |
| Atg4c |
C |
A |
4: 99,109,463 (GRCm39) |
N143K |
possibly damaging |
Het |
| C1qtnf12 |
A |
G |
4: 156,050,922 (GRCm39) |
N297S |
probably benign |
Het |
| Cadps2 |
G |
T |
6: 23,838,998 (GRCm39) |
|
probably benign |
Het |
| Ccdc63 |
C |
G |
5: 122,265,628 (GRCm39) |
A71P |
possibly damaging |
Het |
| Cdca2 |
T |
C |
14: 67,952,258 (GRCm39) |
K38E |
probably damaging |
Het |
| Cyp2j11 |
G |
A |
4: 96,204,595 (GRCm39) |
T317I |
probably damaging |
Het |
| Dab2 |
T |
C |
15: 6,446,398 (GRCm39) |
V5A |
probably benign |
Het |
| Dennd3 |
A |
T |
15: 73,426,909 (GRCm39) |
H762L |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,869,936 (GRCm39) |
F828S |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,406,587 (GRCm39) |
M552V |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,179,472 (GRCm39) |
|
probably null |
Het |
| Dsel |
A |
T |
1: 111,787,987 (GRCm39) |
N849K |
probably benign |
Het |
| Fah |
A |
T |
7: 84,244,042 (GRCm39) |
I239N |
probably damaging |
Het |
| Flt4 |
T |
C |
11: 49,536,824 (GRCm39) |
Y1265H |
probably benign |
Het |
| Ghdc |
T |
C |
11: 100,660,018 (GRCm39) |
E243G |
probably benign |
Het |
| Gm6619 |
A |
G |
6: 131,466,021 (GRCm39) |
I40V |
probably benign |
Het |
| Gpld1 |
T |
C |
13: 25,146,630 (GRCm39) |
V225A |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,391,921 (GRCm39) |
|
probably benign |
Het |
| Igdcc4 |
A |
G |
9: 65,032,617 (GRCm39) |
I542V |
possibly damaging |
Het |
| Igsf9b |
T |
C |
9: 27,245,633 (GRCm39) |
L1200P |
probably damaging |
Het |
| Itgb7 |
C |
T |
15: 102,130,553 (GRCm39) |
V378M |
probably damaging |
Het |
| Krt84 |
T |
C |
15: 101,438,019 (GRCm39) |
E312G |
possibly damaging |
Het |
| Man2a2 |
A |
G |
7: 80,017,532 (GRCm39) |
W250R |
probably damaging |
Het |
| Mcam |
T |
C |
9: 44,047,932 (GRCm39) |
V59A |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,015,015 (GRCm39) |
L314P |
probably benign |
Het |
| Mgat5 |
T |
C |
1: 127,396,987 (GRCm39) |
V578A |
probably damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,393,358 (GRCm39) |
H3068Y |
probably damaging |
Het |
| Myh1 |
A |
C |
11: 67,113,234 (GRCm39) |
D1873A |
probably benign |
Het |
| Nek9 |
A |
G |
12: 85,376,677 (GRCm39) |
W235R |
probably damaging |
Het |
| Or9g19 |
T |
C |
2: 85,600,342 (GRCm39) |
S66P |
probably damaging |
Het |
| Parvb |
A |
G |
15: 84,116,369 (GRCm39) |
K33E |
possibly damaging |
Het |
| Pecr |
T |
C |
1: 72,316,517 (GRCm39) |
R63G |
possibly damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,363,378 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
T |
C |
6: 140,516,129 (GRCm39) |
V270A |
probably damaging |
Het |
| Prr14l |
T |
C |
5: 32,988,046 (GRCm39) |
D483G |
probably benign |
Het |
| Rimkla |
T |
A |
4: 119,331,779 (GRCm39) |
M140L |
possibly damaging |
Het |
| Senp1 |
C |
T |
15: 97,956,196 (GRCm39) |
V408I |
possibly damaging |
Het |
| Stambpl1 |
T |
A |
19: 34,204,104 (GRCm39) |
Y65N |
probably damaging |
Het |
| Tada2a |
T |
C |
11: 83,970,455 (GRCm39) |
D432G |
probably damaging |
Het |
| Themis |
T |
A |
10: 28,544,723 (GRCm39) |
I23N |
probably damaging |
Het |
| Thnsl1 |
T |
C |
2: 21,217,344 (GRCm39) |
I366T |
probably benign |
Het |
| Tmem131 |
C |
A |
1: 36,851,690 (GRCm39) |
V938L |
probably benign |
Het |
| Tmem178b |
A |
T |
6: 40,184,435 (GRCm39) |
Q111L |
probably damaging |
Het |
| Vmn1r195 |
C |
G |
13: 22,462,934 (GRCm39) |
L135V |
possibly damaging |
Het |
| Vmn2r-ps36 |
C |
T |
7: 7,431,539 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp956 |
G |
A |
6: 47,940,805 (GRCm39) |
R388H |
probably damaging |
Het |
| Zfr2 |
T |
G |
10: 81,077,950 (GRCm39) |
V259G |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTGCTAAGCAGTAAACTAGTACC -3'
(R):5'- TGTCTGCCCATCTCCGTGAG -3'
Sequencing Primer
(F):5'- TTCTGGGACAACTGGGACTACAC -3'
(R):5'- AGGCTAGCTCCTAACTCACTATGTAG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation