Incidental Mutation 'IGL03288:Glb1l3'
| ID |
415792 |
| 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 # |
IGL03288
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
26729249-26772186 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 26729601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 622
(V622G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034448]
[ENSMUST00000210274]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034448
AA Change: V547G
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034448
Gene: ENSMUSG00000031966
AA Change: V547G
| 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: V622G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211353
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
T |
C |
5: 62,761,959 (GRCm39) |
K1589R |
probably benign |
Het |
| Armc3 |
T |
C |
2: 19,240,293 (GRCm39) |
F17L |
probably damaging |
Het |
| Ccdc17 |
T |
A |
4: 116,456,626 (GRCm39) |
L465H |
probably damaging |
Het |
| Cdh9 |
A |
T |
15: 16,856,135 (GRCm39) |
D725V |
probably damaging |
Het |
| Cert1 |
T |
A |
13: 96,770,700 (GRCm39) |
D536E |
probably benign |
Het |
| Chl1 |
C |
T |
6: 103,652,058 (GRCm39) |
R309C |
probably damaging |
Het |
| Dbt |
T |
A |
3: 116,341,847 (GRCm39) |
*483K |
probably null |
Het |
| Ddx46 |
A |
G |
13: 55,785,907 (GRCm39) |
D29G |
unknown |
Het |
| Des |
T |
C |
1: 75,338,985 (GRCm39) |
I222T |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,891,323 (GRCm39) |
N776S |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,145,103 (GRCm39) |
L2712Q |
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,487,704 (GRCm39) |
D398G |
possibly damaging |
Het |
| Itgb3 |
T |
C |
11: 104,524,293 (GRCm39) |
M143T |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 27,245,047 (GRCm39) |
R245C |
probably damaging |
Het |
| Lgals9 |
G |
A |
11: 78,875,626 (GRCm39) |
A6V |
probably benign |
Het |
| Lman2l |
A |
T |
1: 36,482,628 (GRCm39) |
Y83N |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,256,383 (GRCm39) |
T4586S |
probably benign |
Het |
| Med10 |
T |
C |
13: 69,963,816 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
A |
C |
5: 112,937,863 (GRCm39) |
L1754R |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,172,679 (GRCm39) |
L1202S |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,594,878 (GRCm39) |
E1441G |
probably damaging |
Het |
| Nme8 |
T |
C |
13: 19,880,776 (GRCm39) |
E60G |
possibly damaging |
Het |
| Npffr2 |
G |
T |
5: 89,731,020 (GRCm39) |
A317S |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,540,726 (GRCm39) |
D893G |
probably damaging |
Het |
| Nup153 |
T |
C |
13: 46,858,681 (GRCm39) |
E410G |
possibly damaging |
Het |
| Or11h7 |
T |
C |
14: 50,890,832 (GRCm39) |
I46T |
possibly damaging |
Het |
| Or7e178 |
A |
G |
9: 20,247,207 (GRCm39) |
|
probably null |
Het |
| Pcdhb10 |
A |
G |
18: 37,546,358 (GRCm39) |
D478G |
probably damaging |
Het |
| Phf13 |
T |
C |
4: 152,076,826 (GRCm39) |
D122G |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,271,243 (GRCm39) |
H3103Q |
probably benign |
Het |
| Prr11 |
A |
C |
11: 86,987,787 (GRCm39) |
|
probably null |
Het |
| Rac3 |
C |
T |
11: 120,614,092 (GRCm39) |
T118M |
possibly damaging |
Het |
| Rad54b |
T |
C |
4: 11,569,833 (GRCm39) |
S50P |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,419,747 (GRCm39) |
Q455R |
possibly damaging |
Het |
| Semp2l1 |
T |
A |
1: 32,584,841 (GRCm39) |
E356D |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,944,858 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,147,827 (GRCm39) |
I858F |
possibly damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,742,447 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
C |
4: 58,116,532 (GRCm39) |
V906G |
probably benign |
Het |
| Tlr4 |
A |
G |
4: 66,757,990 (GRCm39) |
E261G |
probably damaging |
Het |
| Zfp704 |
C |
T |
3: 9,504,951 (GRCm39) |
|
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,580,996 (GRCm39) |
|
probably benign |
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 |
|
IGL02824:Glb1l3
|
APN |
9 |
26,761,405 (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 |
|
|
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 |
2016-08-02 |
Incidental Mutation