Incidental Mutation 'IGL02442:Lgals12'
| ID |
293481 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lgals12
|
| Ensembl Gene |
ENSMUSG00000024972 |
| Gene Name |
lectin, galactose binding, soluble 12 |
| Synonyms |
GRIP1, galectin-12, galectin-related inhibitor of proliferation |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02442
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
7596660-7607193 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 7606654 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079902]
[ENSMUST00000099729]
[ENSMUST00000159983]
|
| AlphaFold |
Q91VD1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079902
|
| SMART Domains |
Protein: ENSMUSP00000078824
Gene: ENSMUSG00000024972
| Domain | Start | End | E-Value | Type |
|---|
|
GLECT
|
25 |
161 |
1.18e-33 |
SMART |
|
Gal-bind_lectin
|
31 |
160 |
1.45e-48 |
SMART |
|
Gal-bind_lectin
|
181 |
301 |
3.6e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099729
|
| SMART Domains |
Protein: ENSMUSP00000097318
Gene: ENSMUSG00000024972
| Domain | Start | End | E-Value | Type |
|---|
|
GLECT
|
25 |
161 |
1.18e-33 |
SMART |
|
Gal-bind_lectin
|
31 |
160 |
1.45e-48 |
SMART |
|
Gal-bind_lectin
|
194 |
314 |
3.6e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159983
|
| SMART Domains |
Protein: ENSMUSP00000124610
Gene: ENSMUSG00000024972
| Domain | Start | End | E-Value | Type |
|---|
|
GLECT
|
25 |
161 |
1.18e-33 |
SMART |
|
Gal-bind_lectin
|
31 |
160 |
1.45e-48 |
SMART |
|
Gal-bind_lectin
|
194 |
314 |
3.6e-12 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the galectin superfamily, a group of beta-galactoside-binding proteins with conserved carbohydrate recognition domains. The related mouse protein is a primary regulator of the early stages of adipose tissue development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased lipolysis, reduced adiposity, and enhanced insulin sensitivity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006E09Rik |
T |
C |
11: 101,990,826 (GRCm38) |
V116A |
probably benign |
Het |
| Adap2 |
A |
G |
11: 80,177,206 (GRCm38) |
E348G |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 9,004,016 (GRCm38) |
G888D |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,798,729 (GRCm38) |
M200I |
probably benign |
Het |
| Csde1 |
T |
C |
3: 103,054,819 (GRCm38) |
C649R |
probably benign |
Het |
| Cym |
A |
C |
3: 107,214,285 (GRCm38) |
D230E |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,287,878 (GRCm38) |
I1911N |
probably damaging |
Het |
| Fam60a |
A |
T |
6: 148,928,507 (GRCm38) |
|
probably null |
Het |
| Fat1 |
A |
G |
8: 44,950,323 (GRCm38) |
H37R |
probably benign |
Het |
| Ggt6 |
T |
C |
11: 72,436,806 (GRCm38) |
V146A |
possibly damaging |
Het |
| Glud1 |
T |
A |
14: 34,335,438 (GRCm38) |
L54* |
probably null |
Het |
| Grk6 |
A |
G |
13: 55,458,937 (GRCm38) |
|
probably benign |
Het |
| Gsta4 |
G |
A |
9: 78,209,165 (GRCm38) |
V219I |
probably benign |
Het |
| Gucy1a2 |
G |
A |
9: 3,865,385 (GRCm38) |
V620M |
probably damaging |
Het |
| Hspe1 |
T |
C |
1: 55,089,042 (GRCm38) |
|
probably benign |
Het |
| Icmt |
T |
C |
4: 152,298,716 (GRCm38) |
V76A |
possibly damaging |
Het |
| Ifrd1 |
A |
G |
12: 40,216,317 (GRCm38) |
|
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,832,387 (GRCm38) |
|
probably benign |
Het |
| Map1b |
A |
T |
13: 99,508,198 (GRCm38) |
W66R |
probably damaging |
Het |
| Matn3 |
T |
A |
12: 8,967,678 (GRCm38) |
C443* |
probably null |
Het |
| Mup8 |
T |
A |
4: 60,219,695 (GRCm38) |
R191W |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,314,375 (GRCm38) |
K140R |
probably benign |
Het |
| Ndfip1 |
C |
T |
18: 38,447,736 (GRCm38) |
S66L |
probably damaging |
Het |
| Neu1 |
A |
G |
17: 34,934,469 (GRCm38) |
I323V |
probably benign |
Het |
| Nup205 |
A |
T |
6: 35,190,068 (GRCm38) |
T341S |
probably benign |
Het |
| Olfr1303 |
G |
A |
2: 111,813,991 (GRCm38) |
T245I |
probably benign |
Het |
| Olfr1466 |
T |
A |
19: 13,342,120 (GRCm38) |
C121S |
probably benign |
Het |
| Olfr1469 |
T |
A |
19: 13,410,987 (GRCm38) |
N139K |
probably benign |
Het |
| Ovch2 |
T |
A |
7: 107,796,548 (GRCm38) |
I88F |
possibly damaging |
Het |
| Pkd1 |
T |
A |
17: 24,565,226 (GRCm38) |
S249T |
probably benign |
Het |
| Plekhg3 |
A |
T |
12: 76,578,353 (GRCm38) |
Q1324L |
probably benign |
Het |
| Ppara |
T |
A |
15: 85,801,143 (GRCm38) |
V431E |
probably benign |
Het |
| Prkaa1 |
T |
G |
15: 5,176,888 (GRCm38) |
H408Q |
probably damaging |
Het |
| Sap25 |
T |
A |
5: 137,641,995 (GRCm38) |
N108K |
probably benign |
Het |
| Setd5 |
A |
C |
6: 113,110,380 (GRCm38) |
I81L |
possibly damaging |
Het |
| Sri |
T |
A |
5: 8,062,411 (GRCm38) |
M78K |
probably damaging |
Het |
| Tyro3 |
A |
G |
2: 119,808,868 (GRCm38) |
N352S |
probably benign |
Het |
| Ubr5 |
T |
A |
15: 38,037,901 (GRCm38) |
E332V |
possibly damaging |
Het |
| Vmn2r19 |
G |
T |
6: 123,309,662 (GRCm38) |
V85F |
possibly damaging |
Het |
| Vmn2r53 |
A |
T |
7: 12,581,729 (GRCm38) |
V721D |
probably damaging |
Het |
| Vwa5a |
A |
G |
9: 38,734,784 (GRCm38) |
M483V |
probably benign |
Het |
| Zfp786 |
T |
A |
6: 47,821,367 (GRCm38) |
Q212H |
probably benign |
Het |
|
| Other mutations in Lgals12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02630:Lgals12
|
APN |
19 |
7,601,242 (GRCm38) |
splice site |
probably benign |
|
|
IGL02700:Lgals12
|
APN |
19 |
7,598,090 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0129:Lgals12
|
UTSW |
19 |
7,603,038 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1398:Lgals12
|
UTSW |
19 |
7,603,957 (GRCm38) |
splice site |
probably benign |
|
|
R1421:Lgals12
|
UTSW |
19 |
7,606,714 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1548:Lgals12
|
UTSW |
19 |
7,604,312 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1697:Lgals12
|
UTSW |
19 |
7,604,165 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R2075:Lgals12
|
UTSW |
19 |
7,598,845 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R2192:Lgals12
|
UTSW |
19 |
7,601,241 (GRCm38) |
splice site |
probably null |
|
|
R2253:Lgals12
|
UTSW |
19 |
7,606,765 (GRCm38) |
start gained |
probably benign |
|
|
R4256:Lgals12
|
UTSW |
19 |
7,606,716 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4738:Lgals12
|
UTSW |
19 |
7,604,099 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5495:Lgals12
|
UTSW |
19 |
7,604,130 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5810:Lgals12
|
UTSW |
19 |
7,606,720 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6139:Lgals12
|
UTSW |
19 |
7,604,377 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7414:Lgals12
|
UTSW |
19 |
7,603,970 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8755:Lgals12
|
UTSW |
19 |
7,603,980 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8920:Lgals12
|
UTSW |
19 |
7,598,801 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R9334:Lgals12
|
UTSW |
19 |
7,600,721 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9441:Lgals12
|
UTSW |
19 |
7,603,991 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0067:Lgals12
|
UTSW |
19 |
7,603,964 (GRCm38) |
splice site |
probably null |
|
|
Z1177:Lgals12
|
UTSW |
19 |
7,598,080 (GRCm38) |
missense |
probably benign |
0.03 |
|
| Posted On |
2015-04-16 |
Incidental Mutation