Incidental Mutation 'IGL02824:Glb1l3'
ID |
361138 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Glb1l3
|
Ensembl Gene |
ENSMUSG00000031966 |
Gene Name |
galactosidase, beta 1 like 3 |
Synonyms |
4921509F24Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
IGL02824
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
26729249-26772186 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 26761405 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 209
(I209N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147979
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034448]
[ENSMUST00000210274]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034448
AA Change: I133N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034448 Gene: ENSMUSG00000031966 AA Change: I133N
Domain | Start | End | E-Value | Type |
Pfam:Glyco_hydro_35
|
1 |
304 |
1.5e-110 |
PFAM |
Pfam:Glyco_hydro_42
|
7 |
160 |
6.2e-11 |
PFAM |
low complexity region
|
309 |
318 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210274
AA Change: I209N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9530002B09Rik |
T |
C |
4: 122,596,112 (GRCm39) |
|
probably benign |
Het |
Aadat |
A |
T |
8: 60,969,056 (GRCm39) |
K93N |
probably benign |
Het |
Abcb5 |
A |
G |
12: 118,854,420 (GRCm39) |
F832L |
probably benign |
Het |
Abl1 |
A |
T |
2: 31,690,831 (GRCm39) |
K783N |
probably damaging |
Het |
Agxt2 |
A |
G |
15: 10,393,891 (GRCm39) |
E423G |
probably null |
Het |
Alkbh8 |
T |
C |
9: 3,368,021 (GRCm39) |
|
probably null |
Het |
Ankrd36 |
T |
C |
11: 5,524,246 (GRCm39) |
I171T |
possibly damaging |
Het |
Ap1b1 |
G |
T |
11: 4,983,738 (GRCm39) |
A664S |
possibly damaging |
Het |
Cd19 |
T |
C |
7: 126,009,826 (GRCm39) |
D446G |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Cyp4f39 |
T |
C |
17: 32,687,659 (GRCm39) |
|
probably null |
Het |
Ehbp1l1 |
T |
C |
19: 5,769,326 (GRCm39) |
D659G |
probably benign |
Het |
Eif3l |
A |
G |
15: 78,960,023 (GRCm39) |
|
probably null |
Het |
F5 |
T |
C |
1: 164,021,916 (GRCm39) |
S1464P |
probably benign |
Het |
Fut9 |
T |
C |
4: 25,620,037 (GRCm39) |
N259S |
probably damaging |
Het |
Gpd2 |
A |
G |
2: 57,254,339 (GRCm39) |
E671G |
probably null |
Het |
Heatr5b |
T |
C |
17: 79,081,109 (GRCm39) |
D1381G |
probably damaging |
Het |
Ifi206 |
A |
T |
1: 173,309,438 (GRCm39) |
I186K |
possibly damaging |
Het |
Izumo1 |
A |
G |
7: 45,275,072 (GRCm39) |
D236G |
probably benign |
Het |
Klhl32 |
T |
A |
4: 24,682,237 (GRCm39) |
R149* |
probably null |
Het |
Lrrn1 |
T |
C |
6: 107,545,495 (GRCm39) |
F431S |
possibly damaging |
Het |
Man2b2 |
C |
T |
5: 36,979,195 (GRCm39) |
V282I |
probably benign |
Het |
Mboat2 |
A |
G |
12: 24,996,585 (GRCm39) |
K164R |
probably benign |
Het |
Mgarp |
T |
C |
3: 51,296,508 (GRCm39) |
T165A |
probably damaging |
Het |
Midn |
T |
G |
10: 79,989,486 (GRCm39) |
I43S |
possibly damaging |
Het |
Ndn |
A |
G |
7: 61,998,582 (GRCm39) |
I143V |
possibly damaging |
Het |
Or6c69 |
T |
C |
10: 129,747,565 (GRCm39) |
E194G |
probably damaging |
Het |
Or8h9 |
T |
C |
2: 86,789,337 (GRCm39) |
D155G |
probably benign |
Het |
Pcnx4 |
T |
C |
12: 72,602,345 (GRCm39) |
V278A |
probably benign |
Het |
Prr30 |
A |
G |
14: 101,435,954 (GRCm39) |
F203L |
probably benign |
Het |
Scd4 |
T |
C |
19: 44,329,698 (GRCm39) |
L223P |
probably damaging |
Het |
Setdb1 |
T |
C |
3: 95,247,215 (GRCm39) |
|
probably benign |
Het |
Smtn |
A |
G |
11: 3,482,658 (GRCm39) |
Y105H |
probably damaging |
Het |
Spata19 |
A |
G |
9: 27,309,025 (GRCm39) |
I54M |
possibly damaging |
Het |
Syk |
A |
T |
13: 52,777,319 (GRCm39) |
|
probably benign |
Het |
Trim44 |
A |
G |
2: 102,230,540 (GRCm39) |
F164L |
possibly damaging |
Het |
Zfp503 |
C |
T |
14: 22,035,162 (GRCm39) |
G585S |
possibly damaging |
Het |
|
Other mutations in Glb1l3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00234:Glb1l3
|
APN |
9 |
26,764,967 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00537:Glb1l3
|
APN |
9 |
26,740,346 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01139:Glb1l3
|
APN |
9 |
26,729,523 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01397:Glb1l3
|
APN |
9 |
26,736,491 (GRCm39) |
missense |
probably benign |
|
IGL01603:Glb1l3
|
APN |
9 |
26,770,832 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01938:Glb1l3
|
APN |
9 |
26,729,825 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02051:Glb1l3
|
APN |
9 |
26,736,464 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02105:Glb1l3
|
APN |
9 |
26,729,823 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02132:Glb1l3
|
APN |
9 |
26,736,466 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02249:Glb1l3
|
APN |
9 |
26,742,564 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL02363:Glb1l3
|
APN |
9 |
26,764,940 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02938:Glb1l3
|
APN |
9 |
26,738,055 (GRCm39) |
missense |
probably benign |
0.26 |
IGL03181:Glb1l3
|
APN |
9 |
26,739,659 (GRCm39) |
splice site |
probably null |
|
IGL03288:Glb1l3
|
APN |
9 |
26,729,601 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03299:Glb1l3
|
APN |
9 |
26,770,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R0479:Glb1l3
|
UTSW |
9 |
26,740,389 (GRCm39) |
missense |
probably benign |
0.31 |
R4036:Glb1l3
|
UTSW |
9 |
26,740,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R4037:Glb1l3
|
UTSW |
9 |
26,740,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R4038:Glb1l3
|
UTSW |
9 |
26,740,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R4039:Glb1l3
|
UTSW |
9 |
26,740,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R4797:Glb1l3
|
UTSW |
9 |
26,739,742 (GRCm39) |
missense |
probably damaging |
0.96 |
R4840:Glb1l3
|
UTSW |
9 |
26,740,349 (GRCm39) |
missense |
probably benign |
0.06 |
R5645:Glb1l3
|
UTSW |
9 |
26,736,122 (GRCm39) |
missense |
probably benign |
|
R5907:Glb1l3
|
UTSW |
9 |
26,737,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R5916:Glb1l3
|
UTSW |
9 |
26,766,032 (GRCm39) |
missense |
probably benign |
0.20 |
R6428:Glb1l3
|
UTSW |
9 |
26,770,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R6489:Glb1l3
|
UTSW |
9 |
26,738,127 (GRCm39) |
missense |
probably benign |
0.31 |
R6532:Glb1l3
|
UTSW |
9 |
26,729,738 (GRCm39) |
missense |
probably benign |
0.02 |
R6560:Glb1l3
|
UTSW |
9 |
26,739,720 (GRCm39) |
splice site |
probably null |
|
R6653:Glb1l3
|
UTSW |
9 |
26,770,884 (GRCm39) |
missense |
probably benign |
0.09 |
R6802:Glb1l3
|
UTSW |
9 |
26,770,648 (GRCm39) |
splice site |
probably null |
|
R7347:Glb1l3
|
UTSW |
9 |
26,740,299 (GRCm39) |
missense |
probably benign |
|
R7531:Glb1l3
|
UTSW |
9 |
26,764,950 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7542:Glb1l3
|
UTSW |
9 |
26,729,491 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7725:Glb1l3
|
UTSW |
9 |
26,739,659 (GRCm39) |
splice site |
probably null |
|
R8998:Glb1l3
|
UTSW |
9 |
26,764,914 (GRCm39) |
critical splice donor site |
probably null |
|
R8999:Glb1l3
|
UTSW |
9 |
26,764,914 (GRCm39) |
critical splice donor site |
probably null |
|
R9158:Glb1l3
|
UTSW |
9 |
26,765,005 (GRCm39) |
nonsense |
probably null |
|
R9464:Glb1l3
|
UTSW |
9 |
26,761,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R9536:Glb1l3
|
UTSW |
9 |
26,770,929 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Glb1l3
|
UTSW |
9 |
26,729,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-12-18 |