Incidental Mutation 'IGL03299:Glb1l3'
| ID |
416180 |
| 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 # |
IGL03299
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
26729249-26772186 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26770748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 106
(N106S)
|
| 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: N30S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034448
Gene: ENSMUSG00000031966
AA Change: N30S
| 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: N106S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921511C20Rik |
A |
G |
X: 126,303,476 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
A |
T |
17: 24,484,565 (GRCm39) |
C1566S |
probably damaging |
Het |
| Akr1cl |
A |
T |
1: 65,063,874 (GRCm39) |
L105H |
probably damaging |
Het |
| Ano1 |
A |
G |
7: 144,207,993 (GRCm39) |
F256S |
probably damaging |
Het |
| Arfip2 |
C |
T |
7: 105,287,150 (GRCm39) |
R138H |
probably damaging |
Het |
| Cers6 |
T |
A |
2: 68,692,128 (GRCm39) |
M50K |
probably benign |
Het |
| Dnah1 |
G |
A |
14: 31,037,079 (GRCm39) |
Q256* |
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,585,644 (GRCm39) |
E852K |
possibly damaging |
Het |
| Fars2 |
C |
T |
13: 36,721,384 (GRCm39) |
Q443* |
probably null |
Het |
| Haus7 |
T |
C |
X: 72,496,670 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
C |
T |
12: 51,847,671 (GRCm39) |
|
probably benign |
Het |
| Hyal5 |
G |
T |
6: 24,877,881 (GRCm39) |
G326C |
probably damaging |
Het |
| Ibtk |
A |
T |
9: 85,603,189 (GRCm39) |
D605E |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,649,125 (GRCm39) |
L415P |
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
| Muc5b |
A |
G |
7: 141,395,117 (GRCm39) |
D41G |
unknown |
Het |
| Mxra7 |
A |
G |
11: 116,695,360 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,249,207 (GRCm39) |
T1366A |
probably damaging |
Het |
| Nmd3 |
C |
T |
3: 69,637,762 (GRCm39) |
|
probably null |
Het |
| Or6c206 |
T |
C |
10: 129,097,196 (GRCm39) |
V122A |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,727,118 (GRCm39) |
N546S |
probably damaging |
Het |
| Prkcz |
T |
C |
4: 155,371,247 (GRCm39) |
T139A |
possibly damaging |
Het |
| Rarb |
T |
C |
14: 16,434,168 (GRCm38) |
K337E |
probably damaging |
Het |
| Rps6ka4 |
C |
T |
19: 6,809,615 (GRCm39) |
|
probably benign |
Het |
| Scamp2 |
A |
G |
9: 57,485,023 (GRCm39) |
|
probably null |
Het |
| Scn3a |
T |
A |
2: 65,327,860 (GRCm39) |
M877L |
probably benign |
Het |
| Sh3pxd2b |
T |
C |
11: 32,361,448 (GRCm39) |
|
probably benign |
Het |
| Slc22a29 |
C |
T |
19: 8,140,012 (GRCm39) |
|
probably null |
Het |
| Slc34a1 |
T |
C |
13: 24,005,094 (GRCm39) |
|
probably null |
Het |
| Srbd1 |
A |
T |
17: 86,428,087 (GRCm39) |
I382N |
possibly damaging |
Het |
| Tm7sf2 |
T |
C |
19: 6,112,958 (GRCm39) |
I387M |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,125,731 (GRCm39) |
E311* |
probably null |
Het |
| Zc3h13 |
G |
A |
14: 75,531,381 (GRCm39) |
R93H |
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 |
|
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 |
|
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