Incidental Mutation 'IGL02700:Lgals12'
ID |
304108 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lgals12
|
Ensembl Gene |
ENSMUSG00000024972 |
Gene Name |
lectin, galactose binding, soluble 12 |
Synonyms |
galectin-12, galectin-related inhibitor of proliferation, GRIP1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02700
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
7574025-7584558 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 7575455 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 294
(A294T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124610
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079902]
[ENSMUST00000099729]
[ENSMUST00000159983]
|
AlphaFold |
Q91VD1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079902
AA Change: A281T
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000078824 Gene: ENSMUSG00000024972 AA Change: A281T
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
AA Change: A294T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000097318 Gene: ENSMUSG00000024972 AA Change: A294T
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
AA Change: A294T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000124610 Gene: ENSMUSG00000024972 AA Change: A294T
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018B08Rik |
C |
A |
8: 122,262,161 (GRCm39) |
|
probably null |
Het |
Acacb |
A |
G |
5: 114,356,942 (GRCm39) |
Y1291C |
probably damaging |
Het |
Agtpbp1 |
C |
T |
13: 59,676,233 (GRCm39) |
C179Y |
probably damaging |
Het |
Capn15 |
T |
C |
17: 26,181,982 (GRCm39) |
D609G |
probably damaging |
Het |
Cnnm3 |
T |
A |
1: 36,552,189 (GRCm39) |
F400I |
probably damaging |
Het |
Dst |
A |
C |
1: 34,301,201 (GRCm39) |
E1189A |
probably damaging |
Het |
Gcnt1 |
G |
A |
19: 17,306,780 (GRCm39) |
T315I |
probably damaging |
Het |
H2-M1 |
T |
C |
17: 36,982,161 (GRCm39) |
I147V |
possibly damaging |
Het |
Hk1 |
T |
C |
10: 62,120,590 (GRCm39) |
N536D |
probably damaging |
Het |
Klhl5 |
C |
T |
5: 65,288,773 (GRCm39) |
Q12* |
probably null |
Het |
Mideas |
T |
C |
12: 84,199,636 (GRCm39) |
N1028S |
probably benign |
Het |
Mki67 |
G |
T |
7: 135,309,931 (GRCm39) |
S173R |
probably benign |
Het |
Nedd4l |
C |
T |
18: 65,342,751 (GRCm39) |
R755C |
probably damaging |
Het |
Obox5 |
A |
G |
7: 15,492,888 (GRCm39) |
D281G |
possibly damaging |
Het |
Or4f6 |
T |
C |
2: 111,839,036 (GRCm39) |
D165G |
probably benign |
Het |
Pacs2 |
T |
A |
12: 113,025,330 (GRCm39) |
I494N |
probably damaging |
Het |
Pax5 |
G |
T |
4: 44,682,722 (GRCm39) |
T141K |
probably damaging |
Het |
Phf21b |
T |
C |
15: 84,687,662 (GRCm39) |
N230S |
probably benign |
Het |
Rab3gap1 |
G |
T |
1: 127,866,342 (GRCm39) |
A841S |
probably benign |
Het |
Siglecf |
T |
C |
7: 43,001,802 (GRCm39) |
L204P |
probably damaging |
Het |
Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
Snca |
G |
A |
6: 60,804,521 (GRCm39) |
T22I |
possibly damaging |
Het |
Syvn1 |
A |
G |
19: 6,097,973 (GRCm39) |
T4A |
probably benign |
Het |
Usp36 |
T |
C |
11: 118,166,983 (GRCm39) |
N298S |
possibly damaging |
Het |
Usp42 |
A |
T |
5: 143,702,883 (GRCm39) |
S579R |
probably benign |
Het |
Vezf1 |
T |
C |
11: 87,964,129 (GRCm39) |
S94P |
probably damaging |
Het |
|
Other mutations in Lgals12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02442:Lgals12
|
APN |
19 |
7,584,019 (GRCm39) |
splice site |
probably benign |
|
IGL02630:Lgals12
|
APN |
19 |
7,578,607 (GRCm39) |
splice site |
probably benign |
|
R0129:Lgals12
|
UTSW |
19 |
7,580,403 (GRCm39) |
missense |
probably damaging |
0.99 |
R1398:Lgals12
|
UTSW |
19 |
7,581,322 (GRCm39) |
splice site |
probably benign |
|
R1421:Lgals12
|
UTSW |
19 |
7,584,079 (GRCm39) |
missense |
probably benign |
0.08 |
R1548:Lgals12
|
UTSW |
19 |
7,581,677 (GRCm39) |
missense |
probably benign |
0.12 |
R1697:Lgals12
|
UTSW |
19 |
7,581,530 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2075:Lgals12
|
UTSW |
19 |
7,576,210 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2192:Lgals12
|
UTSW |
19 |
7,578,606 (GRCm39) |
splice site |
probably null |
|
R2253:Lgals12
|
UTSW |
19 |
7,584,130 (GRCm39) |
start gained |
probably benign |
|
R4256:Lgals12
|
UTSW |
19 |
7,584,081 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4738:Lgals12
|
UTSW |
19 |
7,581,464 (GRCm39) |
missense |
probably benign |
0.01 |
R5495:Lgals12
|
UTSW |
19 |
7,581,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R5810:Lgals12
|
UTSW |
19 |
7,584,085 (GRCm39) |
missense |
probably benign |
0.00 |
R6139:Lgals12
|
UTSW |
19 |
7,581,742 (GRCm39) |
missense |
probably benign |
0.07 |
R7414:Lgals12
|
UTSW |
19 |
7,581,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R8755:Lgals12
|
UTSW |
19 |
7,581,345 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8920:Lgals12
|
UTSW |
19 |
7,576,166 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9334:Lgals12
|
UTSW |
19 |
7,578,086 (GRCm39) |
missense |
probably benign |
0.01 |
R9441:Lgals12
|
UTSW |
19 |
7,581,356 (GRCm39) |
missense |
probably damaging |
1.00 |
X0067:Lgals12
|
UTSW |
19 |
7,581,329 (GRCm39) |
splice site |
probably null |
|
Z1177:Lgals12
|
UTSW |
19 |
7,575,445 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2015-04-16 |