Incidental Mutation 'IGL02249:Glb1l3'
| ID |
286297 |
| 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 # |
IGL02249
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
26729249-26772186 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26742564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 307
(S307R)
|
| 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: S231R
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000034448
Gene: ENSMUSG00000031966
AA Change: S231R
| 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 |
possibly damaging
Transcript: ENSMUST00000210274
AA Change: S307R
PolyPhen 2
Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
T |
A |
1: 53,224,431 (GRCm39) |
K23* |
probably null |
Het |
| Abca1 |
A |
T |
4: 53,068,739 (GRCm39) |
L1333* |
probably null |
Het |
| Adcy6 |
C |
A |
15: 98,497,795 (GRCm39) |
M452I |
probably damaging |
Het |
| Adsl |
G |
A |
15: 80,844,676 (GRCm39) |
R173H |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,718,200 (GRCm39) |
T484A |
probably damaging |
Het |
| Apol10a |
A |
G |
15: 77,372,709 (GRCm39) |
D115G |
probably damaging |
Het |
| Bard1 |
A |
G |
1: 71,092,828 (GRCm39) |
S529P |
probably damaging |
Het |
| C2 |
A |
G |
17: 35,083,484 (GRCm39) |
|
probably benign |
Het |
| Cftr |
T |
A |
6: 18,277,870 (GRCm39) |
I956N |
possibly damaging |
Het |
| Cwc15 |
A |
G |
9: 14,414,977 (GRCm39) |
T110A |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,594,361 (GRCm39) |
I497F |
possibly damaging |
Het |
| Gadd45b |
A |
G |
10: 80,766,967 (GRCm39) |
D69G |
possibly damaging |
Het |
| Greb1l |
G |
A |
18: 10,532,961 (GRCm39) |
G843R |
probably damaging |
Het |
| H2-M11 |
A |
T |
17: 36,858,829 (GRCm39) |
Y123F |
probably benign |
Het |
| Hal |
G |
A |
10: 93,333,400 (GRCm39) |
A323T |
probably damaging |
Het |
| Il4ra |
T |
C |
7: 125,166,396 (GRCm39) |
F47L |
probably benign |
Het |
| Klra10 |
T |
A |
6: 130,256,367 (GRCm39) |
N96Y |
probably benign |
Het |
| Maco1 |
T |
C |
4: 134,555,623 (GRCm39) |
I283M |
possibly damaging |
Het |
| Mki67 |
T |
A |
7: 135,302,251 (GRCm39) |
M928L |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,930,847 (GRCm39) |
V607D |
probably damaging |
Het |
| Ndufaf2 |
A |
G |
13: 108,217,925 (GRCm39) |
W74R |
probably damaging |
Het |
| Noc4l |
C |
A |
5: 110,801,081 (GRCm39) |
|
probably benign |
Het |
| Or51b6b |
T |
A |
7: 103,309,573 (GRCm39) |
I295F |
probably damaging |
Het |
| Papss1 |
T |
A |
3: 131,307,772 (GRCm39) |
W274R |
probably damaging |
Het |
| Pax3 |
C |
T |
1: 78,171,962 (GRCm39) |
V83I |
probably damaging |
Het |
| Prmt5 |
C |
T |
14: 54,747,322 (GRCm39) |
R485H |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,418,220 (GRCm39) |
Y1719H |
probably damaging |
Het |
| Ranbp2 |
A |
T |
10: 58,315,900 (GRCm39) |
I2207F |
possibly damaging |
Het |
| Rock2 |
T |
A |
12: 17,021,042 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,867,961 (GRCm39) |
R124H |
probably damaging |
Het |
| Serpina1e |
G |
A |
12: 103,917,393 (GRCm39) |
T92M |
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,768,667 (GRCm39) |
L83P |
probably benign |
Het |
| Tm9sf2 |
C |
T |
14: 122,361,162 (GRCm39) |
S68L |
probably damaging |
Het |
| Tmem178 |
A |
G |
17: 81,297,235 (GRCm39) |
T206A |
probably damaging |
Het |
| Tmem207 |
A |
T |
16: 26,336,617 (GRCm39) |
Y46N |
possibly damaging |
Het |
| Tyk2 |
A |
G |
9: 21,031,703 (GRCm39) |
L429P |
probably 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 |
|
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