Incidental Mutation 'IGL02172:Glb1l2'
ID |
282946 |
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 # |
IGL02172
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
26674340-26717764 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26680382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 232
(D232G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125022
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040398]
[ENSMUST00000066560]
[ENSMUST00000162252]
[ENSMUST00000162702]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040398
AA Change: D369G
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000047128 Gene: ENSMUSG00000036395 AA Change: D369G
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 |
possibly damaging
Transcript: ENSMUST00000066560
AA Change: D353G
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000066770 Gene: ENSMUSG00000036395 AA Change: D353G
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: ENSMUST00000160458
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161635
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162252
AA Change: D360G
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124415 Gene: ENSMUSG00000036395 AA Change: D360G
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162702
AA Change: D232G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125022 Gene: ENSMUSG00000036395 AA Change: D232G
Domain | Start | End | E-Value | Type |
Pfam:Glyco_hydro_35
|
27 |
247 |
1.4e-67 |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,341,817 (GRCm39) |
V1048A |
probably benign |
Het |
Adgre1 |
C |
T |
17: 57,785,879 (GRCm39) |
T875I |
probably damaging |
Het |
Arhgef26 |
T |
C |
3: 62,367,097 (GRCm39) |
V810A |
probably benign |
Het |
Atf1 |
T |
A |
15: 100,152,322 (GRCm39) |
V105E |
probably damaging |
Het |
Bbs9 |
C |
T |
9: 22,490,772 (GRCm39) |
T300I |
possibly damaging |
Het |
Bltp1 |
T |
C |
3: 37,059,022 (GRCm39) |
V3236A |
probably damaging |
Het |
Brd7 |
G |
T |
8: 89,078,452 (GRCm39) |
H226Q |
probably benign |
Het |
Cadps |
T |
C |
14: 12,705,681 (GRCm38) |
K238R |
probably damaging |
Het |
Chordc1 |
A |
G |
9: 18,213,388 (GRCm39) |
T80A |
possibly damaging |
Het |
Clca4a |
A |
T |
3: 144,676,155 (GRCm39) |
C126* |
probably null |
Het |
Col24a1 |
A |
T |
3: 145,020,723 (GRCm39) |
T365S |
probably benign |
Het |
Crb1 |
C |
T |
1: 139,164,965 (GRCm39) |
G1053D |
probably damaging |
Het |
Creb3l4 |
A |
T |
3: 90,150,082 (GRCm39) |
S20T |
probably benign |
Het |
Cyp2c67 |
C |
T |
19: 39,637,446 (GRCm39) |
C10Y |
possibly damaging |
Het |
Dhdh |
A |
T |
7: 45,125,041 (GRCm39) |
C294S |
probably damaging |
Het |
Fam135a |
A |
G |
1: 24,063,861 (GRCm39) |
|
probably null |
Het |
Fsd1 |
G |
T |
17: 56,297,244 (GRCm39) |
|
probably benign |
Het |
Gatad2b |
A |
G |
3: 90,262,978 (GRCm39) |
|
probably benign |
Het |
Gm10553 |
T |
C |
1: 85,078,015 (GRCm39) |
L44P |
probably damaging |
Het |
Hecw1 |
T |
C |
13: 14,438,734 (GRCm39) |
Y883C |
probably damaging |
Het |
Helq |
A |
G |
5: 100,938,013 (GRCm39) |
F478L |
probably damaging |
Het |
Ift172 |
T |
C |
5: 31,438,681 (GRCm39) |
|
probably benign |
Het |
Krtcap3 |
A |
C |
5: 31,409,397 (GRCm39) |
T55P |
probably damaging |
Het |
Megf6 |
A |
G |
4: 154,355,149 (GRCm39) |
D1488G |
probably damaging |
Het |
Mrpl1 |
T |
C |
5: 96,379,574 (GRCm39) |
V203A |
probably damaging |
Het |
Myh2 |
A |
T |
11: 67,079,878 (GRCm39) |
D1084V |
possibly damaging |
Het |
Necap2 |
T |
A |
4: 140,805,621 (GRCm39) |
|
probably benign |
Het |
Nemp1 |
A |
G |
10: 127,528,868 (GRCm39) |
S191G |
probably benign |
Het |
Nrip1 |
T |
C |
16: 76,088,380 (GRCm39) |
D1059G |
probably damaging |
Het |
Ntrk3 |
A |
T |
7: 78,110,020 (GRCm39) |
|
probably benign |
Het |
Or51e1 |
G |
A |
7: 102,359,051 (GRCm39) |
R195H |
probably benign |
Het |
Or51f1d |
A |
G |
7: 102,700,582 (GRCm39) |
I26V |
probably benign |
Het |
Prkdc |
T |
G |
16: 15,627,623 (GRCm39) |
V3427G |
probably benign |
Het |
Ptprn2 |
A |
T |
12: 116,837,317 (GRCm39) |
|
probably benign |
Het |
Ptprt |
A |
T |
2: 161,397,422 (GRCm39) |
L1095H |
probably damaging |
Het |
Ren1 |
T |
A |
1: 133,286,771 (GRCm39) |
L300Q |
possibly damaging |
Het |
Rgl3 |
A |
G |
9: 21,888,134 (GRCm39) |
I460T |
probably damaging |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Runx1t1 |
A |
C |
4: 13,859,924 (GRCm39) |
Q265P |
probably benign |
Het |
Sh3d21 |
A |
G |
4: 126,046,153 (GRCm39) |
S282P |
probably benign |
Het |
Slc39a13 |
T |
C |
2: 90,893,505 (GRCm39) |
E318G |
possibly damaging |
Het |
Srd5a3 |
T |
C |
5: 76,295,556 (GRCm39) |
I82T |
probably benign |
Het |
Stard7 |
C |
A |
2: 127,132,792 (GRCm39) |
T220N |
probably damaging |
Het |
Tbx4 |
G |
A |
11: 85,805,389 (GRCm39) |
G493R |
possibly damaging |
Het |
Trerf1 |
A |
T |
17: 47,628,743 (GRCm39) |
|
noncoding transcript |
Het |
Trim59 |
T |
A |
3: 68,944,810 (GRCm39) |
I177L |
probably benign |
Het |
Trpm7 |
T |
C |
2: 126,637,248 (GRCm39) |
M1789V |
possibly damaging |
Het |
Tsc22d1 |
T |
C |
14: 76,655,132 (GRCm39) |
V455A |
probably benign |
Het |
Vmn2r118 |
C |
A |
17: 55,931,598 (GRCm39) |
M25I |
probably benign |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
Wdr90 |
G |
A |
17: 26,069,408 (GRCm39) |
T1233I |
probably benign |
Het |
Zcchc2 |
G |
A |
1: 105,928,664 (GRCm39) |
D308N |
probably benign |
Het |
Zfp57 |
G |
T |
17: 37,320,481 (GRCm39) |
V112L |
possibly damaging |
Het |
Zfp874b |
A |
T |
13: 67,622,135 (GRCm39) |
Y388N |
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 |
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 |
|
IGL03101:Glb1l2
|
APN |
9 |
26,676,421 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |