Incidental Mutation 'IGL02132:Glb1l3'
| ID |
281043 |
| 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: 0.069)
|
| Stock # |
IGL02132
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
26729249-26772186 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 26736466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 532
(T532N)
|
| 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: T457N
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000034448
Gene: ENSMUSG00000031966
AA Change: T457N
| 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: T532N
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211353
|
| 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 |
|---|
| 4921513I03Rik |
G |
A |
10: 120,614,635 (GRCm39) |
|
probably benign |
Het |
| 4930432E11Rik |
C |
T |
7: 29,262,704 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy10 |
T |
C |
1: 165,400,112 (GRCm39) |
V1507A |
probably damaging |
Het |
| Ap3b2 |
T |
A |
7: 81,110,746 (GRCm39) |
M1010L |
unknown |
Het |
| Bmp10 |
T |
C |
6: 87,411,130 (GRCm39) |
S308P |
probably benign |
Het |
| Cnih3 |
C |
A |
1: 181,282,274 (GRCm39) |
Y169* |
probably null |
Het |
| Cpsf4l |
A |
G |
11: 113,590,685 (GRCm39) |
S222P |
possibly damaging |
Het |
| Cyp2d10 |
G |
A |
15: 82,288,808 (GRCm39) |
|
probably benign |
Het |
| Dcstamp |
A |
T |
15: 39,617,928 (GRCm39) |
E112D |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,929,496 (GRCm39) |
Q3967* |
probably null |
Het |
| Gcm1 |
C |
A |
9: 77,972,121 (GRCm39) |
P354H |
possibly damaging |
Het |
| Gen1 |
A |
G |
12: 11,291,867 (GRCm39) |
S706P |
probably benign |
Het |
| Gm5069 |
T |
A |
1: 180,154,872 (GRCm39) |
|
probably benign |
Het |
| Gzmc |
A |
C |
14: 56,471,422 (GRCm39) |
F40V |
probably benign |
Het |
| Itgb2 |
G |
T |
10: 77,385,895 (GRCm39) |
C286F |
probably damaging |
Het |
| Jak3 |
A |
G |
8: 72,131,124 (GRCm39) |
Y48C |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,367,960 (GRCm39) |
S184L |
probably benign |
Het |
| Myo1f |
T |
A |
17: 33,798,945 (GRCm39) |
N203K |
probably benign |
Het |
| Nrxn2 |
G |
A |
19: 6,522,306 (GRCm39) |
G182R |
probably damaging |
Het |
| Or4k15c |
T |
C |
14: 50,321,943 (GRCm39) |
N65S |
probably damaging |
Het |
| Or4p8 |
A |
G |
2: 88,727,503 (GRCm39) |
V146A |
probably benign |
Het |
| Or5g23 |
A |
C |
2: 85,438,664 (GRCm39) |
L197V |
probably benign |
Het |
| Otog |
C |
T |
7: 45,954,903 (GRCm39) |
S2692L |
probably damaging |
Het |
| Pde9a |
C |
T |
17: 31,672,444 (GRCm39) |
T34I |
probably benign |
Het |
| Phip |
T |
C |
9: 82,763,394 (GRCm39) |
T1295A |
possibly damaging |
Het |
| Pik3cb |
A |
G |
9: 98,953,430 (GRCm39) |
V451A |
probably benign |
Het |
| Psd2 |
T |
G |
18: 36,137,809 (GRCm39) |
|
probably benign |
Het |
| Pycr2 |
T |
C |
1: 180,733,762 (GRCm39) |
I118T |
probably damaging |
Het |
| Rnf17 |
T |
G |
14: 56,658,623 (GRCm39) |
M104R |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,266,259 (GRCm39) |
V615A |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,327,747 (GRCm39) |
R511W |
possibly damaging |
Het |
| Sis |
T |
C |
3: 72,854,804 (GRCm39) |
N478D |
probably benign |
Het |
| Trps1 |
T |
A |
15: 50,685,674 (GRCm39) |
S584C |
probably damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,284,491 (GRCm39) |
|
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,567,787 (GRCm39) |
S1027P |
probably benign |
Het |
| Zfp644 |
A |
T |
5: 106,783,760 (GRCm39) |
I929K |
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 |
|
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 |
2015-04-16 |
Incidental Mutation