Incidental Mutation 'IGL03101:Glb1l2'
| ID |
418744 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Glb1l2
|
| Ensembl Gene |
ENSMUSG00000036395 |
| Gene Name |
galactosidase, beta 1-like 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL03101
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
26674340-26717764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26676421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 480
(W480R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040398]
[ENSMUST00000066560]
[ENSMUST00000159799]
[ENSMUST00000160899]
[ENSMUST00000161115]
[ENSMUST00000162702]
[ENSMUST00000161431]
[ENSMUST00000162252]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040398
AA Change: W617R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047128
Gene: ENSMUSG00000036395
AA Change: W617R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
30 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_35
|
52 |
384 |
6.6e-118 |
PFAM |
|
Pfam:Glyco_hydro_42
|
84 |
243 |
6.6e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066560
AA Change: W601R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066770
Gene: ENSMUSG00000036395
AA Change: W601R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_35
|
53 |
368 |
6.3e-121 |
PFAM |
|
Pfam:Glyco_hydro_42
|
68 |
227 |
6.2e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159527
|
| SMART Domains |
Protein: ENSMUSP00000125401
Gene: ENSMUSG00000045994
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_43
|
48 |
259 |
2.1e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159799
|
| SMART Domains |
Protein: ENSMUSP00000124438
Gene: ENSMUSG00000045994
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
37 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_43
|
118 |
329 |
6.6e-85 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160458
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160899
|
| SMART Domains |
Protein: ENSMUSP00000124067
Gene: ENSMUSG00000045994
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
37 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_43
|
118 |
328 |
1.7e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161115
|
| SMART Domains |
Protein: ENSMUSP00000125700
Gene: ENSMUSG00000045994
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
24 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_43
|
105 |
316 |
3.7e-85 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162702
AA Change: W480R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125022
Gene: ENSMUSG00000036395
AA Change: W480R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_35
|
27 |
247 |
1.4e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161431
|
| SMART Domains |
Protein: ENSMUSP00000124752
Gene: ENSMUSG00000045994
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
24 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_43
|
105 |
202 |
1.9e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162252
|
| SMART Domains |
Protein: ENSMUSP00000124415
Gene: ENSMUSG00000036395
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_35
|
60 |
375 |
5.3e-121 |
PFAM |
|
Pfam:Glyco_hydro_42
|
75 |
234 |
5.4e-17 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice show decreased mean white blood cell and lymphocyte counts and a decreased mean percentage of natural killer cells. Male mutant mice exhibit impaired glucose tolerance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA474408 |
A |
T |
7: 109,660,177 (GRCm39) |
|
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,207,732 (GRCm39) |
V23D |
probably damaging |
Het |
| Adam8 |
G |
T |
7: 139,568,456 (GRCm39) |
N260K |
possibly damaging |
Het |
| Ap3b1 |
A |
T |
13: 94,591,906 (GRCm39) |
I457L |
probably benign |
Het |
| Apaf1 |
T |
C |
10: 90,867,421 (GRCm39) |
N808S |
possibly damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,327,082 (GRCm39) |
T532A |
possibly damaging |
Het |
| Cfap65 |
G |
T |
1: 74,967,592 (GRCm39) |
T162N |
possibly damaging |
Het |
| Clec12b |
A |
G |
6: 129,356,480 (GRCm39) |
|
probably null |
Het |
| Creb3 |
T |
C |
4: 43,563,081 (GRCm39) |
V60A |
probably benign |
Het |
| Cyp11b1 |
A |
G |
15: 74,707,703 (GRCm39) |
F469L |
probably benign |
Het |
| Defb28 |
A |
T |
2: 152,362,047 (GRCm39) |
E69V |
possibly damaging |
Het |
| Etnppl |
T |
C |
3: 130,415,967 (GRCm39) |
L118S |
probably damaging |
Het |
| Fsip1 |
T |
C |
2: 118,072,144 (GRCm39) |
Y213C |
probably damaging |
Het |
| Herc1 |
A |
T |
9: 66,395,279 (GRCm39) |
M4205L |
probably benign |
Het |
| Kif5a |
A |
T |
10: 127,071,478 (GRCm39) |
|
probably benign |
Het |
| Lmbrd2 |
C |
T |
15: 9,186,695 (GRCm39) |
R557C |
probably damaging |
Het |
| Map4k3 |
A |
G |
17: 80,963,284 (GRCm39) |
|
probably null |
Het |
| Npc1 |
A |
G |
18: 12,331,596 (GRCm39) |
I858T |
probably benign |
Het |
| Or7e173 |
T |
C |
9: 19,938,725 (GRCm39) |
T170A |
probably benign |
Het |
| Pecam1 |
A |
G |
11: 106,588,177 (GRCm39) |
V92A |
probably damaging |
Het |
| Rbm43 |
A |
T |
2: 51,816,757 (GRCm39) |
I70N |
probably benign |
Het |
| Rps6kb1 |
T |
C |
11: 86,393,708 (GRCm39) |
Y474C |
probably benign |
Het |
| Slco2a1 |
G |
A |
9: 102,954,205 (GRCm39) |
G459R |
possibly damaging |
Het |
| Snca |
T |
A |
6: 60,804,595 (GRCm39) |
|
probably benign |
Het |
| Spata31f1e |
T |
C |
4: 42,793,424 (GRCm39) |
D236G |
possibly damaging |
Het |
| Stap2 |
T |
A |
17: 56,309,029 (GRCm39) |
I113F |
probably damaging |
Het |
| Tas2r140 |
T |
C |
6: 40,468,764 (GRCm39) |
M198T |
probably benign |
Het |
| Trim9 |
T |
C |
12: 70,393,428 (GRCm39) |
E172G |
probably damaging |
Het |
| Ttll7 |
T |
C |
3: 146,602,445 (GRCm39) |
V81A |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,782 (GRCm39) |
Y53C |
probably damaging |
Het |
| Vmn2r22 |
C |
A |
6: 123,614,295 (GRCm39) |
A432S |
probably benign |
Het |
| Zfp943 |
T |
C |
17: 22,211,156 (GRCm39) |
S81P |
probably damaging |
Het |
|
| Other mutations in Glb1l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01714:Glb1l2
|
APN |
9 |
26,679,714 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02045:Glb1l2
|
APN |
9 |
26,707,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02172:Glb1l2
|
APN |
9 |
26,680,382 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02372:Glb1l2
|
APN |
9 |
26,707,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02831:Glb1l2
|
APN |
9 |
26,678,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03057:Glb1l2
|
APN |
9 |
26,717,586 (GRCm39) |
splice site |
probably benign |
|
|
IGL03348:Glb1l2
|
APN |
9 |
26,676,976 (GRCm39) |
missense |
probably benign |
|
|
P4717OSA:Glb1l2
|
UTSW |
9 |
26,677,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4362001:Glb1l2
|
UTSW |
9 |
26,685,277 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0219:Glb1l2
|
UTSW |
9 |
26,717,618 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0414:Glb1l2
|
UTSW |
9 |
26,676,400 (GRCm39) |
nonsense |
probably null |
|
|
R0418:Glb1l2
|
UTSW |
9 |
26,705,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0791:Glb1l2
|
UTSW |
9 |
26,681,047 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1165:Glb1l2
|
UTSW |
9 |
26,705,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1514:Glb1l2
|
UTSW |
9 |
26,680,420 (GRCm39) |
splice site |
probably benign |
|
|
R1589:Glb1l2
|
UTSW |
9 |
26,680,334 (GRCm39) |
nonsense |
probably null |
|
|
R1926:Glb1l2
|
UTSW |
9 |
26,682,362 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2928:Glb1l2
|
UTSW |
9 |
26,679,722 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3441:Glb1l2
|
UTSW |
9 |
26,692,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3442:Glb1l2
|
UTSW |
9 |
26,692,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3706:Glb1l2
|
UTSW |
9 |
26,682,316 (GRCm39) |
splice site |
probably benign |
|
|
R3814:Glb1l2
|
UTSW |
9 |
26,682,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5079:Glb1l2
|
UTSW |
9 |
26,682,405 (GRCm39) |
missense |
probably benign |
|
|
R5308:Glb1l2
|
UTSW |
9 |
26,676,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5310:Glb1l2
|
UTSW |
9 |
26,708,162 (GRCm39) |
intron |
probably benign |
|
|
R5746:Glb1l2
|
UTSW |
9 |
26,708,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5969:Glb1l2
|
UTSW |
9 |
26,692,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5998:Glb1l2
|
UTSW |
9 |
26,677,299 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6249:Glb1l2
|
UTSW |
9 |
26,676,850 (GRCm39) |
intron |
probably benign |
|
|
R6284:Glb1l2
|
UTSW |
9 |
26,678,744 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6469:Glb1l2
|
UTSW |
9 |
26,707,828 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7054:Glb1l2
|
UTSW |
9 |
26,676,423 (GRCm39) |
missense |
probably null |
0.51 |
|
R7916:Glb1l2
|
UTSW |
9 |
26,678,720 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7921:Glb1l2
|
UTSW |
9 |
26,685,264 (GRCm39) |
splice site |
probably null |
|
|
R8103:Glb1l2
|
UTSW |
9 |
26,676,980 (GRCm39) |
missense |
probably benign |
|
|
R8354:Glb1l2
|
UTSW |
9 |
26,717,713 (GRCm39) |
start gained |
probably benign |
|
|
R8454:Glb1l2
|
UTSW |
9 |
26,717,713 (GRCm39) |
start gained |
probably benign |
|
|
R8485:Glb1l2
|
UTSW |
9 |
26,679,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8834:Glb1l2
|
UTSW |
9 |
26,689,314 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0020:Glb1l2
|
UTSW |
9 |
26,679,029 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2016-08-02 |
Incidental Mutation