Incidental Mutation 'R1165:Glb1l2'
| ID |
100946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glb1l2
|
| Ensembl Gene |
ENSMUSG00000036395 |
| Gene Name |
galactosidase, beta 1-like 2 |
| Synonyms |
|
| MMRRC Submission |
039238-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R1165 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
26674340-26717764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26705397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 151
(D151G)
|
| 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 damaging
Transcript: ENSMUST00000040398
AA Change: D160G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047128
Gene: ENSMUSG00000036395
AA Change: D160G
| 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 damaging
Transcript: ENSMUST00000066560
AA Change: D144G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066770
Gene: ENSMUSG00000036395
AA Change: D144G
| 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 damaging
Transcript: ENSMUST00000162252
AA Change: D151G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124415
Gene: ENSMUSG00000036395
AA Change: D151G
| 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: ENSMUST00000162378
AA Change: D144G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123830
Gene: ENSMUSG00000036395
AA Change: D144G
| 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 |
|
| Meta Mutation Damage Score |
0.7831 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.4%
|
| Validation Efficiency |
98% (50/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
G |
13: 77,482,406 (GRCm39) |
C1209G |
probably benign |
Het |
| Abcg2 |
C |
A |
6: 58,655,285 (GRCm39) |
L407I |
probably benign |
Het |
| Adtrp |
A |
G |
13: 41,967,779 (GRCm39) |
V56A |
probably damaging |
Het |
| Angptl6 |
T |
G |
9: 20,789,604 (GRCm39) |
N96T |
probably benign |
Het |
| Ank3 |
C |
A |
10: 69,734,132 (GRCm39) |
N780K |
possibly damaging |
Het |
| AU040320 |
A |
T |
4: 126,717,433 (GRCm39) |
|
probably benign |
Het |
| Best2 |
C |
T |
8: 85,737,789 (GRCm39) |
R202H |
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,978,396 (GRCm39) |
S973T |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,466,212 (GRCm39) |
V1992E |
probably damaging |
Het |
| Casp8ap2 |
C |
T |
4: 32,640,563 (GRCm39) |
P539L |
probably benign |
Het |
| Ccr1 |
A |
T |
9: 123,763,531 (GRCm39) |
V333E |
possibly damaging |
Het |
| Celf5 |
A |
T |
10: 81,307,172 (GRCm39) |
V83E |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,257,275 (GRCm39) |
|
probably benign |
Het |
| Coro1b |
C |
A |
19: 4,199,901 (GRCm39) |
H81N |
probably damaging |
Het |
| Cwc22 |
A |
T |
2: 77,734,242 (GRCm39) |
S686T |
probably damaging |
Het |
| Cyp2d26 |
C |
A |
15: 82,678,242 (GRCm39) |
G45W |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,044,051 (GRCm39) |
N297K |
probably damaging |
Het |
| Edem1 |
T |
A |
6: 108,828,214 (GRCm39) |
L513Q |
probably damaging |
Het |
| Erich1 |
G |
A |
8: 14,140,530 (GRCm39) |
|
probably benign |
Het |
| Fam91a1 |
T |
C |
15: 58,302,518 (GRCm39) |
V286A |
possibly damaging |
Het |
| Fdxr |
C |
A |
11: 115,162,608 (GRCm39) |
|
probably benign |
Het |
| Gas7 |
T |
C |
11: 67,561,512 (GRCm39) |
|
probably benign |
Het |
| Gm14410 |
A |
C |
2: 176,885,282 (GRCm39) |
Y327* |
probably null |
Het |
| Grep1 |
A |
C |
17: 23,929,489 (GRCm39) |
|
probably benign |
Het |
| H6pd |
A |
G |
4: 150,080,413 (GRCm39) |
I136T |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,810,947 (GRCm39) |
|
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,668,840 (GRCm39) |
T519A |
possibly damaging |
Het |
| Hpd |
A |
G |
5: 123,314,153 (GRCm39) |
|
probably null |
Het |
| Insyn2b |
A |
G |
11: 34,352,740 (GRCm39) |
T261A |
probably benign |
Het |
| Or6c76 |
A |
G |
10: 129,612,302 (GRCm39) |
D188G |
probably damaging |
Het |
| Or7c19 |
T |
A |
8: 85,957,400 (GRCm39) |
I92N |
probably damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,140,757 (GRCm39) |
|
probably benign |
Het |
| Pdgfrb |
T |
C |
18: 61,197,074 (GRCm39) |
I170T |
probably benign |
Het |
| Rasgrp1 |
A |
T |
2: 117,115,420 (GRCm39) |
F723I |
possibly damaging |
Het |
| Retnlg |
A |
G |
16: 48,694,017 (GRCm39) |
T58A |
possibly damaging |
Het |
| Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
| Rtel1 |
A |
G |
2: 180,976,732 (GRCm39) |
K243E |
probably benign |
Het |
| Slc19a2 |
G |
A |
1: 164,091,014 (GRCm39) |
G274D |
probably damaging |
Het |
| Slc22a27 |
T |
C |
19: 7,887,059 (GRCm39) |
|
probably null |
Het |
| Slc6a1 |
T |
C |
6: 114,288,790 (GRCm39) |
F266L |
probably damaging |
Het |
| Snx25 |
T |
G |
8: 46,488,752 (GRCm39) |
I868L |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 70,036,036 (GRCm39) |
I355V |
probably benign |
Het |
| Tmem198 |
A |
T |
1: 75,456,576 (GRCm39) |
|
probably benign |
Het |
| Traf3ip3 |
A |
C |
1: 192,866,786 (GRCm39) |
S349A |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,862,041 (GRCm39) |
N358D |
possibly damaging |
Het |
| Trmu |
A |
G |
15: 85,776,875 (GRCm39) |
T196A |
probably damaging |
Het |
| Tsen2 |
A |
G |
6: 115,538,396 (GRCm39) |
Y291C |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,853,041 (GRCm39) |
F2358L |
probably benign |
Het |
| Wnt2 |
T |
C |
6: 17,989,946 (GRCm39) |
H317R |
probably benign |
Het |
| Zfp120 |
A |
T |
2: 149,961,849 (GRCm39) |
V33E |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
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 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation