Incidental Mutation 'R0414:Glb1l2'
| ID |
40172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glb1l2
|
| Ensembl Gene |
ENSMUSG00000036395 |
| Gene Name |
galactosidase, beta 1-like 2 |
| Synonyms |
|
| MMRRC Submission |
038616-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R0414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
26674340-26717764 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 26676400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 487
(K487*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040398]
[ENSMUST00000066560]
[ENSMUST00000159799]
[ENSMUST00000160899]
[ENSMUST00000161115]
[ENSMUST00000162702]
[ENSMUST00000162252]
[ENSMUST00000161431]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040398
AA Change: K624*
|
| SMART Domains |
Protein: ENSMUSP00000047128
Gene: ENSMUSG00000036395
AA Change: K624*
| 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 null
Transcript: ENSMUST00000066560
AA Change: K608*
|
| SMART Domains |
Protein: ENSMUSP00000066770
Gene: ENSMUSG00000036395
AA Change: K608*
| 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 null
Transcript: ENSMUST00000162702
AA Change: K487*
|
| SMART Domains |
Protein: ENSMUSP00000125022
Gene: ENSMUSG00000036395
AA Change: K487*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_35
|
27 |
247 |
1.4e-67 |
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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
96% (64/67) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016H13Rik |
A |
T |
5: 103,797,356 (GRCm39) |
V51E |
probably benign |
Het |
| Abo |
T |
C |
2: 26,733,428 (GRCm39) |
Y259C |
probably damaging |
Het |
| Adamts5 |
A |
G |
16: 85,674,794 (GRCm39) |
S457P |
probably damaging |
Het |
| Alk |
G |
T |
17: 72,206,281 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,439,230 (GRCm39) |
I1188T |
probably benign |
Het |
| Ambra1 |
T |
C |
2: 91,706,084 (GRCm39) |
S730P |
possibly damaging |
Het |
| Arhgef2 |
T |
C |
3: 88,539,575 (GRCm39) |
|
probably benign |
Het |
| Atpsckmt |
T |
A |
15: 31,617,148 (GRCm39) |
Y126* |
probably null |
Het |
| B3gnt7 |
T |
C |
1: 86,233,351 (GRCm39) |
I82T |
probably damaging |
Het |
| B4galnt3 |
T |
C |
6: 120,193,526 (GRCm39) |
D400G |
probably benign |
Het |
| Bag4 |
A |
G |
8: 26,258,025 (GRCm39) |
V434A |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,425,476 (GRCm39) |
|
probably null |
Het |
| Cfc1 |
A |
G |
1: 34,576,409 (GRCm39) |
D130G |
probably damaging |
Het |
| Chd4 |
T |
C |
6: 125,084,443 (GRCm39) |
Y692H |
probably damaging |
Het |
| Cilp2 |
A |
G |
8: 70,335,643 (GRCm39) |
S452P |
probably benign |
Het |
| Clec2m |
T |
C |
6: 129,303,813 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
GAGAAGAAG |
GAGAAG |
4: 133,799,947 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,390,064 (GRCm39) |
D727G |
probably benign |
Het |
| Dock10 |
C |
A |
1: 80,513,650 (GRCm39) |
V1129F |
possibly damaging |
Het |
| Dsc1 |
A |
T |
18: 20,221,411 (GRCm39) |
I688N |
possibly damaging |
Het |
| Dyrk1a |
C |
G |
16: 94,464,701 (GRCm39) |
T103R |
probably damaging |
Het |
| Ebf1 |
C |
T |
11: 44,815,297 (GRCm39) |
R304* |
probably null |
Het |
| Eif2s2 |
A |
G |
2: 154,726,381 (GRCm39) |
|
probably benign |
Het |
| Endov |
T |
G |
11: 119,390,397 (GRCm39) |
Y8* |
probably null |
Het |
| Eps15 |
T |
A |
4: 109,223,677 (GRCm39) |
D485E |
probably damaging |
Het |
| Fam118a |
C |
A |
15: 84,929,890 (GRCm39) |
S39R |
probably damaging |
Het |
| Fbxo22 |
T |
A |
9: 55,130,910 (GRCm39) |
M393K |
possibly damaging |
Het |
| Firrm |
T |
C |
1: 163,795,890 (GRCm39) |
I434V |
probably benign |
Het |
| Gab1 |
A |
G |
8: 81,526,918 (GRCm39) |
I60T |
probably damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,583,439 (GRCm39) |
L1059P |
probably benign |
Het |
| Gbp5 |
A |
G |
3: 142,213,674 (GRCm39) |
|
probably null |
Het |
| H1f1 |
A |
G |
13: 23,948,141 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,591,573 (GRCm39) |
I1875M |
possibly damaging |
Het |
| Jkamp |
T |
C |
12: 72,140,919 (GRCm39) |
|
probably null |
Het |
| Kprp |
C |
T |
3: 92,733,020 (GRCm39) |
C10Y |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,401,372 (GRCm39) |
|
probably null |
Het |
| Lrrn3 |
T |
A |
12: 41,503,939 (GRCm39) |
N126I |
probably damaging |
Het |
| Mug1 |
T |
C |
6: 121,833,513 (GRCm39) |
F325L |
probably benign |
Het |
| Myadm |
AC |
ACC |
7: 3,345,276 (GRCm39) |
|
probably null |
Het |
| Nagk |
C |
T |
6: 83,774,249 (GRCm39) |
R87* |
probably null |
Het |
| Nipal4 |
T |
A |
11: 46,052,735 (GRCm39) |
I77F |
probably damaging |
Het |
| Or4c112 |
A |
G |
2: 88,853,490 (GRCm39) |
Y286H |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,769,932 (GRCm39) |
H250R |
probably damaging |
Het |
| Pcx |
T |
C |
19: 4,657,670 (GRCm39) |
V378A |
possibly damaging |
Het |
| Pfkp |
T |
A |
13: 6,643,246 (GRCm39) |
H524L |
probably benign |
Het |
| Picalm |
A |
T |
7: 89,838,406 (GRCm39) |
N370I |
possibly damaging |
Het |
| Plcl2 |
A |
C |
17: 50,914,983 (GRCm39) |
D664A |
possibly damaging |
Het |
| Ptpn5 |
G |
A |
7: 46,732,884 (GRCm39) |
P320S |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,356,326 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,581,115 (GRCm39) |
D96G |
possibly damaging |
Het |
| Slfn1 |
A |
G |
11: 83,012,096 (GRCm39) |
I71V |
probably benign |
Het |
| Spata1 |
A |
G |
3: 146,181,943 (GRCm39) |
|
probably null |
Het |
| Stx18 |
T |
C |
5: 38,262,349 (GRCm39) |
|
probably benign |
Het |
| Suox |
T |
A |
10: 128,507,326 (GRCm39) |
H234L |
probably benign |
Het |
| Tbc1d17 |
T |
C |
7: 44,495,483 (GRCm39) |
S114G |
probably benign |
Het |
| Tfeb |
T |
A |
17: 48,099,224 (GRCm39) |
|
probably null |
Het |
| Tnks |
A |
C |
8: 35,320,463 (GRCm39) |
V736G |
probably damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,514,045 (GRCm39) |
T4A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGAGTGTATCCCAGAGAGCG -3'
(R):5'- TGGTCTCTCAGGAACATGGTCTGTC -3'
Sequencing Primer
(F):5'- ATGGAGCCTGACATTGTCTC -3'
(R):5'- AGGAACATGGTCTGTCTCTCAC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation