Incidental Mutation 'R5746:Glb1l2'
| ID |
445790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glb1l2
|
| Ensembl Gene |
ENSMUSG00000036395 |
| Gene Name |
galactosidase, beta 1-like 2 |
| Synonyms |
|
| MMRRC Submission |
043199-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R5746 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
26674340-26717764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26708086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 29
(A29V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124415
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040398]
[ENSMUST00000066560]
[ENSMUST00000162252]
[ENSMUST00000162378]
[ENSMUST00000162702]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040398
|
| SMART Domains |
Protein: ENSMUSP00000047128
Gene: ENSMUSG00000036395
| 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 benign
Transcript: ENSMUST00000066560
|
| SMART Domains |
Protein: ENSMUSP00000066770
Gene: ENSMUSG00000036395
| 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: ENSMUST00000161635
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162252
AA Change: A29V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000124415
Gene: ENSMUSG00000036395
AA Change: A29V
| 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: ENSMUST00000162378
|
| SMART Domains |
Protein: ENSMUSP00000123830
Gene: ENSMUSG00000036395
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_35
|
53 |
190 |
1.8e-61 |
PFAM |
|
Pfam:Glyco_hydro_42
|
68 |
183 |
9.5e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162702
|
| SMART Domains |
Protein: ENSMUSP00000125022
Gene: ENSMUSG00000036395
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_35
|
27 |
247 |
1.4e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216272
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora3 |
A |
G |
3: 105,815,126 (GRCm39) |
E292G |
possibly damaging |
Het |
| Ank1 |
C |
T |
8: 23,606,612 (GRCm39) |
T1187I |
probably damaging |
Het |
| Ankrd16 |
T |
A |
2: 11,789,178 (GRCm39) |
I255K |
probably damaging |
Het |
| Atp6ap1l |
T |
C |
13: 91,031,698 (GRCm39) |
N328S |
probably benign |
Het |
| Cbln3 |
A |
G |
14: 56,120,601 (GRCm39) |
S144P |
probably damaging |
Het |
| Cdh12 |
T |
A |
15: 21,358,810 (GRCm39) |
L78Q |
probably null |
Het |
| Cpsf1 |
C |
T |
15: 76,484,037 (GRCm39) |
R761H |
probably benign |
Het |
| Cyp2d10 |
T |
G |
15: 82,289,472 (GRCm39) |
E213D |
probably benign |
Het |
| Gba2 |
T |
C |
4: 43,568,465 (GRCm39) |
|
probably null |
Het |
| Gm11149 |
C |
T |
9: 49,457,494 (GRCm39) |
G393S |
probably damaging |
Het |
| Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,544,635 (GRCm39) |
N574S |
probably damaging |
Het |
| Kdm2b |
A |
G |
5: 123,017,427 (GRCm39) |
V1099A |
probably damaging |
Het |
| Kel |
C |
T |
6: 41,675,961 (GRCm39) |
G243E |
probably damaging |
Het |
| Ly6g |
A |
T |
15: 75,028,596 (GRCm39) |
N19Y |
possibly damaging |
Het |
| Nexn |
TCTTCCTTC |
TCTTC |
3: 151,948,513 (GRCm39) |
|
probably benign |
Het |
| Nod2 |
T |
C |
8: 89,390,970 (GRCm39) |
S411P |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Ptpn14 |
G |
A |
1: 189,578,610 (GRCm39) |
|
probably null |
Het |
| Smg6 |
G |
A |
11: 75,030,113 (GRCm39) |
G211E |
probably damaging |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Tbc1d15 |
T |
C |
10: 115,046,184 (GRCm39) |
S440G |
probably damaging |
Het |
| Tpm2 |
A |
G |
4: 43,519,731 (GRCm39) |
V85A |
possibly damaging |
Het |
| Ttf1 |
G |
T |
2: 28,955,754 (GRCm39) |
A373S |
probably damaging |
Het |
| Vmn2r11 |
T |
A |
5: 109,201,560 (GRCm39) |
T315S |
probably benign |
Het |
| Zcchc14 |
T |
C |
8: 122,331,378 (GRCm39) |
|
probably benign |
Het |
| Zfp146 |
T |
C |
7: 29,861,818 (GRCm39) |
S75G |
probably benign |
Het |
| Zfp994 |
A |
G |
17: 22,420,254 (GRCm39) |
Y232H |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCTCCAGTTCAACCTG -3'
(R):5'- AGTAGTAGGAGCCTGTGAGC -3'
Sequencing Primer
(F):5'- AAAGCAAATGCCCTCATGTGG -3'
(R):5'- TAGGAGCCTGTGAGCTGCAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation