Incidental Mutation 'IGL02992:Lgals3'
ID 406996
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lgals3
Ensembl Gene ENSMUSG00000050335
Gene Name lectin, galactose binding, soluble 3
Synonyms galectin-3, L-34, Mac-2, gal3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02992
Quality Score
Status
Chromosome 14
Chromosomal Location 47611317-47623624 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 47622982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 214 (I214L)
Ref Sequence ENSEMBL: ENSMUSP00000114350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043296] [ENSMUST00000142734] [ENSMUST00000146468] [ENSMUST00000150290] [ENSMUST00000151405] [ENSMUST00000178661] [ENSMUST00000180299]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043296
SMART Domains Protein: ENSMUSP00000040416
Gene: ENSMUSG00000037544

DomainStartEndE-ValueType
coiled coil region 86 116 N/A INTRINSIC
Pfam:GKAP 327 590 2.2e-38 PFAM
low complexity region 735 757 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142734
AA Change: I214L

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000118169
Gene: ENSMUSG00000050335
AA Change: I214L

DomainStartEndE-ValueType
low complexity region 29 127 N/A INTRINSIC
GLECT 130 262 8.36e-57 SMART
Gal-bind_lectin 136 261 1.02e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146468
AA Change: I214L

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000119275
Gene: ENSMUSG00000050335
AA Change: I214L

DomainStartEndE-ValueType
low complexity region 29 127 N/A INTRINSIC
GLECT 130 262 8.36e-57 SMART
Gal-bind_lectin 136 261 1.02e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150290
AA Change: I214L

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000114350
Gene: ENSMUSG00000050335
AA Change: I214L

DomainStartEndE-ValueType
low complexity region 29 127 N/A INTRINSIC
GLECT 130 262 8.36e-57 SMART
Gal-bind_lectin 136 261 1.02e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151405
SMART Domains Protein: ENSMUSP00000118660
Gene: ENSMUSG00000050335

DomainStartEndE-ValueType
low complexity region 29 127 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177822
Predicted Effect probably benign
Transcript: ENSMUST00000178661
Predicted Effect probably benign
Transcript: ENSMUST00000180299
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 family of carbohydrate binding proteins. Members of this protein family have an affinity for beta-galactosides. The encoded protein is characterized by an N-terminal proline-rich tandem repeat domain and a single C-terminal carbohydrate recognition domain. This protein can self-associate through the N-terminal domain allowing it to bind to multivalent saccharide ligands. This protein localizes to the extracellular matrix, the cytoplasm and the nucleus. This protein plays a role in numerous cellular functions including apoptosis, innate immunity, cell adhesion and T-cell regulation. The protein exhibits antimicrobial activity against bacteria and fungi. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygotes for a null allele show susceptibility to S. pneumoniae infection, resistance to renal fibrosis, defects in chondrocyte differentiation, and impaired macrophage activation. Homozygotes for another null allele show altered peritoneal inflammation, and susceptibility to T. gondii infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,921,935 (GRCm39) K1164E probably damaging Het
Arhgap42 G A 9: 8,998,249 (GRCm39) probably benign Het
Arhgef12 T C 9: 42,910,373 (GRCm39) D612G probably damaging Het
Cpne3 T C 4: 19,532,486 (GRCm39) D309G probably benign Het
Daw1 T C 1: 83,174,934 (GRCm39) probably benign Het
Daxx T A 17: 34,130,722 (GRCm39) C246S probably damaging Het
Dpp7 T C 2: 25,244,589 (GRCm39) D264G possibly damaging Het
Dync2h1 T A 9: 7,137,074 (GRCm39) H1472L probably benign Het
Fastkd2 T C 1: 63,777,083 (GRCm39) probably benign Het
Fcrl2 T G 3: 87,166,773 (GRCm39) R73S probably damaging Het
Gatb A G 3: 85,526,223 (GRCm39) D367G probably damaging Het
Gm20547 T A 17: 35,076,095 (GRCm39) E654V probably damaging Het
Gm839 T A 6: 89,189,509 (GRCm39) noncoding transcript Het
Gtf2ird2 A T 5: 134,246,456 (GRCm39) M905L possibly damaging Het
Hoxb2 A T 11: 96,243,910 (GRCm39) I174F probably damaging Het
Hrh3 A G 2: 179,742,608 (GRCm39) V308A probably benign Het
Ints9 A G 14: 65,217,613 (GRCm39) K47E probably benign Het
Irak3 A T 10: 120,018,566 (GRCm39) Y61N probably damaging Het
Itpr1 A G 6: 108,358,276 (GRCm39) E614G probably damaging Het
Msh4 G T 3: 153,577,962 (GRCm39) T444K possibly damaging Het
Myh7b C A 2: 155,463,330 (GRCm39) Q521K probably damaging Het
Naip5 T A 13: 100,359,536 (GRCm39) I567F probably damaging Het
Nf1 A G 11: 79,325,759 (GRCm39) probably benign Het
Nlrc3 C T 16: 3,771,887 (GRCm39) probably benign Het
Nlrc5 A C 8: 95,233,201 (GRCm39) E1353A possibly damaging Het
Nr1h3 T A 2: 91,020,911 (GRCm39) I260F probably damaging Het
Pcnx1 G A 12: 82,010,894 (GRCm39) R1211Q probably damaging Het
Pde10a A G 17: 9,168,293 (GRCm39) K605E probably damaging Het
Pdzd2 T C 15: 12,382,708 (GRCm39) E1215G possibly damaging Het
Pex12 A G 11: 83,188,753 (GRCm39) S81P probably damaging Het
Pik3c2b C A 1: 132,994,718 (GRCm39) Y227* probably null Het
Ppef2 C T 5: 92,383,759 (GRCm39) W450* probably null Het
Prkg2 T G 5: 99,172,365 (GRCm39) S117R probably benign Het
Prl3d2 A T 13: 27,311,266 (GRCm39) E179D probably benign Het
Relch T A 1: 105,647,189 (GRCm39) L684M possibly damaging Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Scn10a T C 9: 119,438,626 (GRCm39) T1748A possibly damaging Het
Septin10 T C 10: 59,028,000 (GRCm39) N107S possibly damaging Het
Smu1 T A 4: 40,739,550 (GRCm39) N420I probably damaging Het
Sos1 A G 17: 80,726,445 (GRCm39) F835L probably benign Het
Spg11 T C 2: 121,888,879 (GRCm39) D2164G probably damaging Het
Svbp A G 4: 119,053,127 (GRCm39) E8G probably damaging Het
Tgm3 T A 2: 129,883,899 (GRCm39) M519K probably damaging Het
Tspan12 A G 6: 21,799,876 (GRCm39) probably null Het
Vps52 T C 17: 34,177,324 (GRCm39) V122A probably damaging Het
Wipf1 T C 2: 73,264,427 (GRCm39) Y458C probably damaging Het
Zfp369 T A 13: 65,442,265 (GRCm39) D286E possibly damaging Het
Other mutations in Lgals3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Lgals3 APN 14 47,622,175 (GRCm39) missense probably benign 0.11
IGL02608:Lgals3 APN 14 47,623,058 (GRCm39) missense probably benign 0.03
R1892:Lgals3 UTSW 14 47,622,164 (GRCm39) missense possibly damaging 0.77
R4583:Lgals3 UTSW 14 47,619,144 (GRCm39) splice site probably null
R4663:Lgals3 UTSW 14 47,619,079 (GRCm39) splice site probably null
R8468:Lgals3 UTSW 14 47,619,104 (GRCm39) missense possibly damaging 0.90
R8825:Lgals3 UTSW 14 47,617,557 (GRCm39) nonsense probably null
Posted On 2016-08-02