Incidental Mutation 'R5998:Glb1l2'
ID |
480677 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glb1l2
|
Ensembl Gene |
ENSMUSG00000036395 |
Gene Name |
galactosidase, beta 1-like 2 |
Synonyms |
|
MMRRC Submission |
044177-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R5998 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
26674340-26717764 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 26677299 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 533
(T533I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124415
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040398]
[ENSMUST00000066560]
[ENSMUST00000159799]
[ENSMUST00000160899]
[ENSMUST00000162252]
[ENSMUST00000162702]
[ENSMUST00000161431]
[ENSMUST00000161115]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040398
AA Change: T542I
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000047128 Gene: ENSMUSG00000036395 AA Change: T542I
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: T526I
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000066770 Gene: ENSMUSG00000036395 AA Change: T526I
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 |
possibly damaging
Transcript: ENSMUST00000162252
AA Change: T533I
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000124415 Gene: ENSMUSG00000036395 AA Change: T533I
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 benign
Transcript: ENSMUST00000162702
AA Change: T405I
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000125022 Gene: ENSMUSG00000036395 AA Change: T405I
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: 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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.1%
|
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 |
Abca13 |
G |
A |
11: 9,517,708 (GRCm39) |
V4437I |
probably damaging |
Het |
Acot12 |
T |
C |
13: 91,905,653 (GRCm39) |
I71T |
possibly damaging |
Het |
Adcy10 |
A |
G |
1: 165,369,218 (GRCm39) |
I630V |
probably benign |
Het |
Adcy3 |
T |
A |
12: 4,248,348 (GRCm39) |
V470E |
probably damaging |
Het |
Adcy6 |
C |
A |
15: 98,492,235 (GRCm39) |
E1008* |
probably null |
Het |
Adgrb3 |
A |
T |
1: 25,470,582 (GRCm39) |
|
probably null |
Het |
Ahrr |
T |
A |
13: 74,361,955 (GRCm39) |
S515C |
probably damaging |
Het |
Ankrd52 |
T |
C |
10: 128,218,992 (GRCm39) |
I416T |
probably damaging |
Het |
Arhgap45 |
T |
C |
10: 79,866,784 (GRCm39) |
S1096P |
probably damaging |
Het |
Atp8b4 |
A |
G |
2: 126,275,787 (GRCm39) |
|
probably null |
Het |
Bcl6b |
A |
C |
11: 70,119,009 (GRCm39) |
I200M |
probably damaging |
Het |
Btbd19 |
T |
A |
4: 116,978,196 (GRCm39) |
E234V |
probably benign |
Het |
Csmd1 |
G |
A |
8: 15,960,443 (GRCm39) |
T3324I |
probably damaging |
Het |
Cyp2a5 |
G |
A |
7: 26,536,578 (GRCm39) |
V186I |
probably benign |
Het |
Eif4a3l1 |
T |
C |
6: 136,305,622 (GRCm39) |
F28L |
probably benign |
Het |
Helz |
G |
T |
11: 107,576,360 (GRCm39) |
E1851* |
probably null |
Het |
Igkv15-103 |
T |
A |
6: 68,414,489 (GRCm39) |
F13Y |
unknown |
Het |
Kcnq2 |
T |
C |
2: 180,728,801 (GRCm39) |
H548R |
probably damaging |
Het |
Mcm3ap |
T |
C |
10: 76,316,976 (GRCm39) |
|
probably null |
Het |
Micall2 |
T |
C |
5: 139,692,666 (GRCm39) |
|
probably null |
Het |
Mill2 |
A |
G |
7: 18,573,989 (GRCm39) |
R25G |
probably benign |
Het |
Mtcl1 |
G |
A |
17: 66,675,275 (GRCm39) |
H1041Y |
probably damaging |
Het |
Or5k16 |
T |
C |
16: 58,736,993 (GRCm39) |
T4A |
probably benign |
Het |
Or8d2b |
G |
A |
9: 38,789,165 (GRCm39) |
R231H |
probably damaging |
Het |
Pigt |
A |
G |
2: 164,349,374 (GRCm39) |
E559G |
possibly damaging |
Het |
Pkdrej |
A |
G |
15: 85,699,654 (GRCm39) |
V2094A |
probably benign |
Het |
Prkdc |
T |
A |
16: 15,601,021 (GRCm39) |
L2894Q |
probably damaging |
Het |
Saxo4 |
A |
T |
19: 10,458,716 (GRCm39) |
W105R |
possibly damaging |
Het |
Speer4a2 |
T |
C |
5: 26,289,704 (GRCm39) |
D241G |
probably damaging |
Het |
Tmem63b |
A |
G |
17: 45,980,926 (GRCm39) |
V256A |
possibly damaging |
Het |
Zfp516 |
T |
C |
18: 82,974,639 (GRCm39) |
L279P |
probably damaging |
Het |
Zfp780b |
T |
A |
7: 27,664,047 (GRCm39) |
K169N |
probably benign |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTAGGTCATAGGATGGCAGC -3'
(R):5'- GTTCAGAGGACCTTTGGCTG -3'
Sequencing Primer
(F):5'- CAAGATAGCAGGATGGGCACTTC -3'
(R):5'- AGGACCTTTGGCTGCACATG -3'
|
Posted On |
2017-06-26 |