Incidental Mutation 'R8920:Lgals12'
| ID |
679218 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8920 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
7574025-7584558 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7576166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 253
(I253V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079902]
[ENSMUST00000099729]
[ENSMUST00000159983]
|
| AlphaFold |
Q91VD1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079902
AA Change: I240V
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000078824
Gene: ENSMUSG00000024972
AA Change: I240V
| 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 |
possibly damaging
Transcript: ENSMUST00000099729
AA Change: I253V
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097318
Gene: ENSMUSG00000024972
AA Change: I253V
| 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 |
possibly damaging
Transcript: ENSMUST00000159983
AA Change: I253V
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124610
Gene: ENSMUSG00000024972
AA Change: I253V
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa10 |
T |
A |
8: 62,527,580 (GRCm39) |
Q160L |
probably benign |
Het |
| Apc2 |
A |
T |
10: 80,149,934 (GRCm39) |
I1663L |
probably benign |
Het |
| Bahcc1 |
C |
G |
11: 120,175,331 (GRCm39) |
R1802G |
probably damaging |
Het |
| C1qtnf1 |
T |
C |
11: 118,339,068 (GRCm39) |
V246A |
possibly damaging |
Het |
| Cbl |
A |
G |
9: 44,078,570 (GRCm39) |
M267T |
probably damaging |
Het |
| Cd300lf |
T |
C |
11: 115,017,180 (GRCm39) |
K48E |
probably benign |
Het |
| Cfap46 |
G |
T |
7: 139,232,442 (GRCm39) |
N840K |
|
Het |
| Cfap54 |
T |
A |
10: 92,776,199 (GRCm39) |
|
probably null |
Het |
| Cnrip1 |
A |
C |
11: 17,005,003 (GRCm39) |
K184N |
unknown |
Het |
| Dnah11 |
A |
T |
12: 118,077,674 (GRCm39) |
L1273Q |
probably damaging |
Het |
| Dyrk1a |
T |
G |
16: 94,460,488 (GRCm39) |
I48R |
probably benign |
Het |
| Exoc7 |
T |
C |
11: 116,180,055 (GRCm39) |
E683G |
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,799,171 (GRCm39) |
Y54C |
probably benign |
Het |
| Igtp |
A |
T |
11: 58,096,999 (GRCm39) |
I57F |
probably damaging |
Het |
| Inhbb |
T |
C |
1: 119,345,107 (GRCm39) |
N394S |
probably damaging |
Het |
| Jag1 |
T |
C |
2: 136,931,143 (GRCm39) |
H663R |
probably benign |
Het |
| Kcna6 |
A |
G |
6: 126,716,610 (GRCm39) |
F93S |
probably damaging |
Het |
| L1td1 |
C |
A |
4: 98,624,864 (GRCm39) |
S353* |
probably null |
Het |
| Lgals4 |
C |
T |
7: 28,540,289 (GRCm39) |
R195C |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 42,213,610 (GRCm39) |
D67E |
|
Het |
| Lrrc43 |
T |
C |
5: 123,639,194 (GRCm39) |
S408P |
probably benign |
Het |
| Madd |
T |
C |
2: 91,007,168 (GRCm39) |
I315V |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,719,280 (GRCm39) |
F2281S |
probably damaging |
Het |
| Med13l |
A |
T |
5: 118,885,543 (GRCm39) |
K1499* |
probably null |
Het |
| Myoc |
A |
G |
1: 162,475,127 (GRCm39) |
E226G |
probably benign |
Het |
| Nmur1 |
T |
C |
1: 86,315,577 (GRCm39) |
Y96C |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,948,863 (GRCm39) |
D145V |
probably damaging |
Het |
| Or7g18 |
C |
A |
9: 18,787,394 (GRCm39) |
T254K |
probably damaging |
Het |
| Paqr8 |
A |
T |
1: 21,005,245 (GRCm39) |
Q133L |
probably damaging |
Het |
| Plbd2 |
T |
C |
5: 120,630,915 (GRCm39) |
D230G |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,744,218 (GRCm39) |
I694T |
probably benign |
Het |
| Rnf139 |
C |
T |
15: 58,771,529 (GRCm39) |
T518I |
possibly damaging |
Het |
| Ryr1 |
G |
T |
7: 28,789,640 (GRCm39) |
S1498R |
possibly damaging |
Het |
| Senp6 |
T |
A |
9: 79,999,561 (GRCm39) |
S72T |
probably benign |
Het |
| Slc12a7 |
C |
T |
13: 73,946,568 (GRCm39) |
P554S |
probably damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,687,990 (GRCm39) |
R39S |
probably benign |
Het |
| Snrpe |
T |
G |
1: 133,534,199 (GRCm39) |
H88P |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,533,088 (GRCm39) |
V3115E |
probably damaging |
Het |
| Stk39 |
C |
T |
2: 68,302,191 (GRCm39) |
V11I |
unknown |
Het |
| Tapbpl |
T |
C |
6: 125,205,214 (GRCm39) |
Y244C |
probably damaging |
Het |
| Tpx2 |
A |
G |
2: 152,726,214 (GRCm39) |
E393G |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,741,620 (GRCm39) |
N111Y |
probably damaging |
Het |
| Vstm4 |
C |
T |
14: 32,585,615 (GRCm39) |
R61C |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,221,615 (GRCm39) |
F698I |
possibly damaging |
Het |
| Zfp467 |
G |
A |
6: 48,415,414 (GRCm39) |
P413S |
probably benign |
Het |
| Zfp532 |
G |
T |
18: 65,820,390 (GRCm39) |
A992S |
probably benign |
Het |
| Zfp622 |
G |
A |
15: 25,996,321 (GRCm39) |
W430* |
probably null |
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 |
|
|
IGL02700:Lgals12
|
APN |
19 |
7,575,455 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACTGAACATTCTTTCTACAGAGC -3'
(R):5'- AGTCTTCAGTGGCTCTCCTG -3'
Sequencing Primer
(F):5'- GAACATTCTTTCTACAGAGCTGGCTC -3'
(R):5'- CCTTCCCCTTCAGAGATACAATGG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation