Incidental Mutation 'IGL02700:Lgals12'
ID304108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lgals12
Ensembl Gene ENSMUSG00000024972
Gene Namelectin, galactose binding, soluble 12
SynonymsGRIP1, galectin-12, galectin-related inhibitor of proliferation
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02700
Quality Score
Status
Chromosome19
Chromosomal Location7596660-7607193 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 7598090 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik C A 8: 121,535,422 probably null Het
Acacb A G 5: 114,218,881 Y1291C probably damaging Het
Agtpbp1 C T 13: 59,528,419 C179Y probably damaging Het
Capn15 T C 17: 25,963,008 D609G probably damaging Het
Cnnm3 T A 1: 36,513,108 F400I probably damaging Het
Dst A C 1: 34,262,120 E1189A probably damaging Het
Elmsan1 T C 12: 84,152,862 N1028S probably benign Het
Gcnt1 G A 19: 17,329,416 T315I probably damaging Het
H2-M1 T C 17: 36,671,269 I147V possibly damaging Het
Hk1 T C 10: 62,284,811 N536D probably damaging Het
Klhl5 C T 5: 65,131,430 Q12* probably null Het
Mki67 G T 7: 135,708,202 S173R probably benign Het
Nedd4l C T 18: 65,209,680 R755C probably damaging Het
Obox5 A G 7: 15,758,963 D281G possibly damaging Het
Olfr1310 T C 2: 112,008,691 D165G probably benign Het
Pacs2 T A 12: 113,061,710 I494N probably damaging Het
Pax5 G T 4: 44,682,722 T141K probably damaging Het
Phf21b T C 15: 84,803,461 N230S probably benign Het
Rab3gap1 G T 1: 127,938,605 A841S probably benign Het
Siglecf T C 7: 43,352,378 L204P probably damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Snca G A 6: 60,827,537 T22I possibly damaging Het
Syvn1 A G 19: 6,047,943 T4A probably benign Het
Usp36 T C 11: 118,276,157 N298S possibly damaging Het
Usp42 A T 5: 143,717,128 S579R probably benign Het
Vezf1 T C 11: 88,073,303 S94P probably damaging Het
Other mutations in Lgals12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02442:Lgals12 APN 19 7606654 splice site probably benign
IGL02630:Lgals12 APN 19 7601242 splice site probably benign
R0129:Lgals12 UTSW 19 7603038 missense probably damaging 0.99
R1398:Lgals12 UTSW 19 7603957 splice site probably benign
R1421:Lgals12 UTSW 19 7606714 missense probably benign 0.08
R1548:Lgals12 UTSW 19 7604312 missense probably benign 0.12
R1697:Lgals12 UTSW 19 7604165 missense possibly damaging 0.91
R2075:Lgals12 UTSW 19 7598845 missense possibly damaging 0.81
R2192:Lgals12 UTSW 19 7601241 splice site probably null
R2253:Lgals12 UTSW 19 7606765 start gained probably benign
R4256:Lgals12 UTSW 19 7606716 missense possibly damaging 0.93
R4738:Lgals12 UTSW 19 7604099 missense probably benign 0.01
R5495:Lgals12 UTSW 19 7604130 missense probably damaging 1.00
R5810:Lgals12 UTSW 19 7606720 missense probably benign 0.00
R6139:Lgals12 UTSW 19 7604377 missense probably benign 0.07
R7414:Lgals12 UTSW 19 7603970 missense probably damaging 1.00
R8755:Lgals12 UTSW 19 7603980 missense possibly damaging 0.95
X0067:Lgals12 UTSW 19 7603964 splice site probably null
Z1177:Lgals12 UTSW 19 7598080 missense probably benign 0.03
Posted On2015-04-16