Incidental Mutation 'R6284:Glb1l2'
| ID |
508114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glb1l2
|
| Ensembl Gene |
ENSMUSG00000036395 |
| Gene Name |
galactosidase, beta 1-like 2 |
| Synonyms |
|
| MMRRC Submission |
044454-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6284 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
26674340-26717764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26678744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 466
(S466T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124415
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040398]
[ENSMUST00000066560]
[ENSMUST00000159799]
[ENSMUST00000162252]
[ENSMUST00000162702]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040398
AA Change: S475T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000047128
Gene: ENSMUSG00000036395
AA Change: S475T
| 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
AA Change: S459T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000066770
Gene: ENSMUSG00000036395
AA Change: S459T
| 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: ENSMUST00000162252
AA Change: S466T
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000124415
Gene: ENSMUSG00000036395
AA Change: S466T
| 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: S338T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125022
Gene: ENSMUSG00000036395
AA Change: S338T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_35
|
27 |
247 |
1.4e-67 |
PFAM |
|
| Meta Mutation Damage Score |
0.0867 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (64/64) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
G |
T |
6: 72,324,437 (GRCm39) |
G16C |
probably damaging |
Het |
| Abca7 |
G |
A |
10: 79,840,244 (GRCm39) |
V801I |
probably benign |
Het |
| Adgrl2 |
A |
T |
3: 148,532,143 (GRCm39) |
L1030Q |
probably damaging |
Het |
| Akap1 |
T |
C |
11: 88,735,394 (GRCm39) |
T423A |
possibly damaging |
Het |
| Anpep |
T |
A |
7: 79,475,550 (GRCm39) |
D111V |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,356,676 (GRCm39) |
|
probably null |
Het |
| Atp5f1a |
T |
A |
18: 77,866,168 (GRCm39) |
S106T |
probably benign |
Het |
| Atp5me |
T |
C |
5: 108,581,925 (GRCm39) |
I20V |
probably benign |
Het |
| Atp6v0d2 |
T |
A |
4: 19,922,605 (GRCm39) |
|
probably null |
Het |
| Bclaf1 |
T |
G |
10: 20,197,906 (GRCm39) |
|
probably null |
Het |
| Bod1l |
A |
G |
5: 41,976,130 (GRCm39) |
V1728A |
probably benign |
Het |
| Braf |
A |
G |
6: 39,665,216 (GRCm39) |
F51L |
possibly damaging |
Het |
| Camsap2 |
A |
G |
1: 136,232,175 (GRCm39) |
I140T |
possibly damaging |
Het |
| Ccdc24 |
A |
T |
4: 117,726,850 (GRCm39) |
|
probably null |
Het |
| Cdh26 |
G |
C |
2: 178,091,677 (GRCm39) |
G79R |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,384,939 (GRCm39) |
L2447P |
probably damaging |
Het |
| Cfap74 |
T |
C |
4: 155,536,253 (GRCm39) |
F863L |
probably damaging |
Het |
| Clstn2 |
C |
T |
9: 97,336,727 (GRCm39) |
G917S |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,604,426 (GRCm39) |
|
probably null |
Het |
| Cul5 |
G |
A |
9: 53,535,035 (GRCm39) |
P596L |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,268,166 (GRCm39) |
R2863W |
probably damaging |
Het |
| Dthd1 |
A |
G |
5: 62,971,384 (GRCm39) |
E69G |
possibly damaging |
Het |
| Elp1 |
A |
T |
4: 56,762,281 (GRCm39) |
I1106K |
probably damaging |
Het |
| Erich2 |
T |
A |
2: 70,370,028 (GRCm39) |
I402N |
probably damaging |
Het |
| Fam162b |
T |
C |
10: 51,461,598 (GRCm39) |
K155R |
probably damaging |
Het |
| Fhip1a |
G |
A |
3: 85,579,995 (GRCm39) |
P737S |
probably benign |
Het |
| Kazn |
G |
A |
4: 141,844,508 (GRCm39) |
L402F |
probably benign |
Het |
| Kcnj13 |
A |
T |
1: 87,314,608 (GRCm39) |
S205T |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,117,091 (GRCm39) |
V2462E |
probably damaging |
Het |
| Lce1b |
A |
C |
3: 92,563,411 (GRCm39) |
C41G |
unknown |
Het |
| Lyar |
T |
A |
5: 38,383,339 (GRCm39) |
W77R |
probably damaging |
Het |
| Marchf11 |
G |
A |
15: 26,409,432 (GRCm39) |
R377Q |
probably benign |
Het |
| Mis18bp1 |
A |
G |
12: 65,185,561 (GRCm39) |
F869L |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,329,887 (GRCm39) |
Y6* |
probably null |
Het |
| Myzap |
T |
C |
9: 71,466,207 (GRCm39) |
I150V |
probably benign |
Het |
| Nop14 |
C |
T |
5: 34,798,835 (GRCm39) |
|
probably null |
Het |
| Oprl1 |
T |
A |
2: 181,359,784 (GRCm39) |
|
probably benign |
Het |
| Pacsin1 |
T |
C |
17: 27,927,478 (GRCm39) |
L432P |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,167,580 (GRCm39) |
L116P |
probably benign |
Het |
| Plcb2 |
C |
T |
2: 118,547,782 (GRCm39) |
V482M |
probably benign |
Het |
| Pnliprp1 |
T |
A |
19: 58,723,416 (GRCm39) |
I269N |
probably damaging |
Het |
| Pnpla7 |
C |
A |
2: 24,906,630 (GRCm39) |
D664E |
possibly damaging |
Het |
| Ppa2 |
G |
A |
3: 133,076,178 (GRCm39) |
R269H |
probably benign |
Het |
| Rps6kb2 |
G |
T |
19: 4,211,186 (GRCm39) |
T113K |
probably benign |
Het |
| Rrp7a |
A |
T |
15: 83,006,061 (GRCm39) |
I63N |
probably damaging |
Het |
| Slc29a1 |
A |
G |
17: 45,900,847 (GRCm39) |
|
probably null |
Het |
| Slco1a7 |
T |
C |
6: 141,671,119 (GRCm39) |
D451G |
probably damaging |
Het |
| Stxbp5 |
C |
A |
10: 9,642,931 (GRCm39) |
G1056V |
probably damaging |
Het |
| Stxbp5 |
A |
C |
10: 9,642,923 (GRCm39) |
S1059A |
probably benign |
Het |
| Taldo1 |
T |
A |
7: 140,978,496 (GRCm39) |
S149T |
possibly damaging |
Het |
| Tlr1 |
T |
C |
5: 65,084,442 (GRCm39) |
D45G |
possibly damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,770,558 (GRCm39) |
S783P |
probably damaging |
Het |
| Trap1 |
A |
G |
16: 3,878,673 (GRCm39) |
Y220H |
probably benign |
Het |
| Trpc6 |
A |
G |
9: 8,643,601 (GRCm39) |
D462G |
possibly damaging |
Het |
| Ttc21a |
A |
G |
9: 119,773,028 (GRCm39) |
E235G |
probably damaging |
Het |
| Tubb4a |
A |
G |
17: 57,387,833 (GRCm39) |
Y398H |
probably damaging |
Het |
| Ube2z |
A |
G |
11: 95,941,233 (GRCm39) |
F303S |
probably damaging |
Het |
| Vmn1r211 |
A |
G |
13: 23,036,254 (GRCm39) |
S138P |
probably damaging |
Het |
| Zfp1002 |
T |
A |
2: 150,097,198 (GRCm39) |
Y77F |
possibly damaging |
Het |
| Zfp93 |
T |
A |
7: 23,975,054 (GRCm39) |
C346* |
probably null |
Het |
| Zfp938 |
A |
T |
10: 82,063,400 (GRCm39) |
S52R |
possibly damaging |
Het |
| Zp1 |
A |
T |
19: 10,893,867 (GRCm39) |
L446Q |
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 |
|
|
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 |
|
|
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'- CACCTGGGAATCTGTGTTCC -3'
(R):5'- AGTTGGCATGATCTTTCCCC -3'
Sequencing Primer
(F):5'- TGGTCACAAAGCTACCTGTG -3'
(R):5'- GGCATGATCTTTCCCCCATAAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation