Incidental Mutation 'R4256:Lgals12'
| ID |
321842 |
| 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 |
| MMRRC Submission |
041069-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4256 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
7574025-7584558 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 7584081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 5
(E5D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079902]
[ENSMUST00000099729]
[ENSMUST00000159983]
|
| AlphaFold |
Q91VD1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079902
AA Change: E5D
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078824
Gene: ENSMUSG00000024972
AA Change: E5D
| 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: E5D
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097318
Gene: ENSMUSG00000024972
AA Change: E5D
| 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: E5D
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124610
Gene: ENSMUSG00000024972
AA Change: E5D
| 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 |
|
| Meta Mutation Damage Score |
0.0779 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
93% (41/44) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Arsi |
T |
C |
18: 61,050,388 (GRCm39) |
W424R |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,980,252 (GRCm39) |
S411P |
probably damaging |
Het |
| Cdhr2 |
G |
A |
13: 54,861,818 (GRCm39) |
V72I |
probably damaging |
Het |
| Celf4 |
T |
C |
18: 25,624,258 (GRCm39) |
I414V |
probably damaging |
Het |
| Cfap43 |
G |
A |
19: 47,770,844 (GRCm39) |
T689I |
probably benign |
Het |
| Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
| Cyp3a11 |
A |
T |
5: 145,806,005 (GRCm39) |
S121T |
probably benign |
Het |
| Dip2c |
C |
A |
13: 9,659,092 (GRCm39) |
Q864K |
probably damaging |
Het |
| Fbxo3 |
A |
G |
2: 103,881,510 (GRCm39) |
T281A |
probably damaging |
Het |
| Gm5148 |
T |
A |
3: 37,768,758 (GRCm39) |
H154L |
unknown |
Het |
| Gsdma2 |
T |
A |
11: 98,542,758 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
T |
C |
5: 107,052,663 (GRCm39) |
I273M |
possibly damaging |
Het |
| Hspa4l |
A |
G |
3: 40,700,435 (GRCm39) |
E14G |
probably benign |
Het |
| Inava |
G |
T |
1: 136,142,088 (GRCm39) |
N670K |
probably benign |
Het |
| Lsg1 |
T |
G |
16: 30,392,061 (GRCm39) |
I237L |
probably benign |
Het |
| Mettl14 |
T |
C |
3: 123,177,254 (GRCm39) |
E49G |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,370,107 (GRCm39) |
I2675V |
probably benign |
Het |
| Or2y1e |
A |
T |
11: 49,218,304 (GRCm39) |
Q22L |
probably benign |
Het |
| Or4b1b |
A |
T |
2: 90,112,406 (GRCm39) |
V171E |
probably damaging |
Het |
| Or5k15 |
T |
G |
16: 58,710,143 (GRCm39) |
S147R |
probably benign |
Het |
| Padi1 |
A |
T |
4: 140,542,089 (GRCm39) |
L611Q |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,277,764 (GRCm39) |
D248G |
probably damaging |
Het |
| Plekhm1 |
C |
A |
11: 103,261,760 (GRCm39) |
R940L |
probably damaging |
Het |
| Rasa3 |
A |
G |
8: 13,664,532 (GRCm39) |
|
probably null |
Het |
| Rspo2 |
C |
A |
15: 42,939,307 (GRCm39) |
R161L |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,443,786 (GRCm39) |
Y1944C |
probably damaging |
Het |
| Slc7a10 |
G |
T |
7: 34,898,140 (GRCm39) |
M297I |
probably damaging |
Het |
| Spata31e3 |
A |
C |
13: 50,404,141 (GRCm39) |
S54A |
probably benign |
Het |
| Ssh2 |
A |
G |
11: 77,299,009 (GRCm39) |
T112A |
possibly damaging |
Het |
| Ttc7 |
A |
T |
17: 87,628,829 (GRCm39) |
|
probably null |
Het |
| Vmn1r64 |
T |
A |
7: 5,886,895 (GRCm39) |
H216L |
probably benign |
Het |
| Vmn2r112 |
A |
G |
17: 22,837,393 (GRCm39) |
K618R |
probably damaging |
Het |
| Vmp1 |
T |
A |
11: 86,552,014 (GRCm39) |
I117L |
probably benign |
Het |
| Vsnl1 |
A |
T |
12: 11,382,056 (GRCm39) |
Y108* |
probably null |
Het |
| Wdr31 |
A |
G |
4: 62,375,675 (GRCm39) |
|
probably null |
Het |
| Zfp329 |
A |
G |
7: 12,541,840 (GRCm39) |
V284A |
probably benign |
Het |
| Zfp551 |
G |
A |
7: 12,150,318 (GRCm39) |
H364Y |
possibly 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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTTCTAGCCATCTATCCCAGAAG -3'
(R):5'- TGCTGTACCATCATAGCGGG -3'
Sequencing Primer
(F):5'- CATCTATCCCAGAAGAGGCGTATTG -3'
(R):5'- ACCATCATAGCGGGGGTTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation