Incidental Mutation 'IGL00094:Lgals3'
ID 970
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 # IGL00094
Quality Score
Status
Chromosome 14
Chromosomal Location 47611317-47623624 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47622175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 197 (K197R)
Ref Sequence ENSEMBL: ENSMUSP00000114350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043296] [ENSMUST00000142734] [ENSMUST00000144794] [ENSMUST00000146468] [ENSMUST00000150290] [ENSMUST00000151405] [ENSMUST00000180299] [ENSMUST00000226585]
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: K197R

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000118169
Gene: ENSMUSG00000050335
AA Change: K197R

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: ENSMUST00000144794
SMART Domains Protein: ENSMUSP00000114177
Gene: ENSMUSG00000050335

DomainStartEndE-ValueType
low complexity region 29 94 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146468
AA Change: K197R

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000119275
Gene: ENSMUSG00000050335
AA Change: K197R

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: K197R

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114350
Gene: ENSMUSG00000050335
AA Change: K197R

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: ENSMUST00000180299
Predicted Effect probably benign
Transcript: ENSMUST00000226585
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T A 5: 125,591,254 (GRCm39) N547K probably benign Het
Abca13 A G 11: 9,247,443 (GRCm39) T2397A probably benign Het
Abcc1 A G 16: 14,288,398 (GRCm39) N1341S probably null Het
Adcy9 T A 16: 4,122,446 (GRCm39) I535L probably benign Het
Akap6 A G 12: 53,187,763 (GRCm39) S1726G possibly damaging Het
Ap3d1 T C 10: 80,577,813 (GRCm39) M5V probably benign Het
Ash1l T A 3: 88,889,019 (GRCm39) N299K probably benign Het
B3gnt2 C T 11: 22,786,151 (GRCm39) V346I probably benign Het
Ceacam14 G A 7: 17,548,062 (GRCm39) V51I probably damaging Het
Cfap69 T C 5: 5,634,682 (GRCm39) D812G probably damaging Het
Cfap97d1 A G 11: 101,881,646 (GRCm39) E114G possibly damaging Het
Chrna9 T C 5: 66,126,600 (GRCm39) V118A probably benign Het
Cpsf7 A G 19: 10,517,151 (GRCm39) R418G probably damaging Het
Csnk1g3 T C 18: 54,052,075 (GRCm39) Y215H probably damaging Het
Dcaf5 A C 12: 80,386,097 (GRCm39) N676K probably benign Het
Dld A T 12: 31,385,576 (GRCm39) M255K probably benign Het
Esr2 A T 12: 76,180,670 (GRCm39) L417H probably damaging Het
Fsip2 T A 2: 82,820,730 (GRCm39) S5488T probably benign Het
Gatb A T 3: 85,509,227 (GRCm39) I130L possibly damaging Het
Gbp9 T C 5: 105,229,130 (GRCm39) K506E probably benign Het
Hkdc1 T C 10: 62,229,568 (GRCm39) N703S probably damaging Het
Itgb3 T A 11: 104,524,410 (GRCm39) V182E probably damaging Het
Itih4 A T 14: 30,617,426 (GRCm39) Y582F probably damaging Het
Lancl2 T A 6: 57,701,522 (GRCm39) probably benign Het
Lipe T C 7: 25,082,977 (GRCm39) T767A probably damaging Het
Lrp2 T A 2: 69,338,123 (GRCm39) D1219V probably damaging Het
Lrriq3 T A 3: 154,806,698 (GRCm39) C116S probably benign Het
Mcm5 T G 8: 75,851,573 (GRCm39) probably null Het
Mtpn G T 6: 35,499,711 (GRCm39) T31K probably damaging Het
Mycbp2 A T 14: 103,460,486 (GRCm39) Y1494N probably damaging Het
Nbeal1 G T 1: 60,274,350 (GRCm39) E498* probably null Het
Nos1 T G 5: 118,048,165 (GRCm39) S657A probably damaging Het
Nr3c1 A T 18: 39,561,661 (GRCm39) probably null Het
Or12e7 T A 2: 87,288,271 (GRCm39) V254E probably damaging Het
Or13a17 A T 7: 140,271,349 (GRCm39) H177L probably damaging Het
Or4c127 T A 2: 89,833,365 (GRCm39) I205N possibly damaging Het
Or7g32 T A 9: 19,408,155 (GRCm39) I37N probably damaging Het
Or8g20 T C 9: 39,395,944 (GRCm39) I202V probably benign Het
Or8s8 T G 15: 98,354,299 (GRCm39) V36G possibly damaging Het
Or9i1 A T 19: 13,839,150 (GRCm39) probably benign Het
Osbp2 T G 11: 3,661,848 (GRCm39) S735R probably benign Het
Otop3 A T 11: 115,235,279 (GRCm39) T304S probably benign Het
Pcdhac2 A T 18: 37,278,128 (GRCm39) L369F probably damaging Het
Pick1 T C 15: 79,131,457 (GRCm39) probably benign Het
Prlhr A T 19: 60,456,119 (GRCm39) V149E probably damaging Het
Prss12 G A 3: 123,280,598 (GRCm39) probably benign Het
Rab19 A T 6: 39,365,132 (GRCm39) probably benign Het
Ralgapb T C 2: 158,262,776 (GRCm39) W5R probably damaging Het
Rfx4 T A 10: 84,676,063 (GRCm39) L44Q probably damaging Het
Scube2 T C 7: 109,407,661 (GRCm39) T760A probably damaging Het
Shcbp1 A C 8: 4,804,258 (GRCm39) Y145* probably null Het
Snx31 T A 15: 36,545,761 (GRCm39) probably null Het
Spopl A T 2: 23,427,643 (GRCm39) V163E possibly damaging Het
Sqor T C 2: 122,629,463 (GRCm39) I107T probably damaging Het
Tcte1 T C 17: 45,845,854 (GRCm39) F153L probably damaging Het
Tnfrsf11b T A 15: 54,123,238 (GRCm39) H121L probably damaging Het
Tnip1 G T 11: 54,831,643 (GRCm39) Y10* probably null Het
Tnxb G T 17: 34,904,603 (GRCm39) G1123C probably damaging Het
Wdr62 T C 7: 29,942,948 (GRCm39) E515G probably benign Het
Zfand1 A T 3: 10,413,590 (GRCm39) D32E probably null Het
Zfp112 A C 7: 23,821,668 (GRCm39) T3P probably damaging Het
Other mutations in Lgals3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02608:Lgals3 APN 14 47,623,058 (GRCm39) missense probably benign 0.03
IGL02992:Lgals3 APN 14 47,622,982 (GRCm39) missense probably benign 0.06
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 2011-07-12