Incidental Mutation 'IGL02051:Glb1l3'
ID |
186117 |
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 # |
IGL02051
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
26729249-26772186 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26736464 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 533
(I533V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147979
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034448]
[ENSMUST00000210274]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034448
AA Change: I458V
PolyPhen 2
Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000034448 Gene: ENSMUSG00000031966 AA Change: I458V
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 |
noncoding transcript
Transcript: ENSMUST00000209592
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210274
AA Change: I533V
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211353
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacul1 |
T |
C |
19: 60,531,504 (GRCm39) |
D255G |
probably damaging |
Het |
Chi3l1 |
T |
C |
1: 134,111,887 (GRCm39) |
S94P |
probably damaging |
Het |
Defa38 |
A |
G |
8: 21,585,275 (GRCm39) |
|
probably benign |
Het |
Dzip3 |
T |
C |
16: 48,792,617 (GRCm39) |
T223A |
probably benign |
Het |
Firrm |
T |
C |
1: 163,785,091 (GRCm39) |
T763A |
probably benign |
Het |
Gfra3 |
T |
C |
18: 34,828,894 (GRCm39) |
T167A |
possibly damaging |
Het |
Gm11437 |
T |
A |
11: 84,043,592 (GRCm39) |
Q233L |
probably benign |
Het |
Hif1an |
A |
G |
19: 44,551,829 (GRCm39) |
Y93C |
probably damaging |
Het |
Hspg2 |
A |
G |
4: 137,295,700 (GRCm39) |
|
probably benign |
Het |
Ints15 |
A |
G |
5: 143,293,737 (GRCm39) |
C247R |
probably damaging |
Het |
Mak |
G |
A |
13: 41,195,558 (GRCm39) |
A385V |
probably benign |
Het |
Mical2 |
G |
T |
7: 111,980,597 (GRCm39) |
K190N |
probably benign |
Het |
Moxd1 |
A |
G |
10: 24,128,916 (GRCm39) |
|
probably null |
Het |
Ptpn5 |
A |
G |
7: 46,732,507 (GRCm39) |
|
probably null |
Het |
Ryr1 |
A |
G |
7: 28,771,083 (GRCm39) |
Y2614H |
probably benign |
Het |
Sema3e |
T |
A |
5: 14,274,324 (GRCm39) |
Y192N |
possibly damaging |
Het |
Smpd4 |
T |
C |
16: 17,444,382 (GRCm39) |
L145P |
probably damaging |
Het |
Tesk2 |
A |
G |
4: 116,608,381 (GRCm39) |
E101G |
probably damaging |
Het |
Vmn1r68 |
A |
T |
7: 10,261,948 (GRCm39) |
V50E |
probably benign |
Het |
Vpreb3 |
G |
A |
10: 75,784,244 (GRCm39) |
|
probably null |
Het |
Vps72 |
T |
C |
3: 95,030,040 (GRCm39) |
L353P |
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 |
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 |
|
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 |
2014-05-07 |