Incidental Mutation 'R5504:Lgals3bp'
ID 430841
Institutional Source Beutler Lab
Gene Symbol Lgals3bp
Ensembl Gene ENSMUSG00000033880
Gene Name lectin, galactoside-binding, soluble, 3 binding protein
Synonyms Tango10b, CyCAP, MAC-2BP, 90K, Ppicap
MMRRC Submission 043065-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R5504 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 118283573-118292787 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 118284811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 256 (T256N)
Ref Sequence ENSEMBL: ENSMUSP00000035579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043722] [ENSMUST00000106290]
AlphaFold Q07797
Predicted Effect probably benign
Transcript: ENSMUST00000043722
AA Change: T256N

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000035579
Gene: ENSMUSG00000033880
AA Change: T256N

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
SR 24 124 1.43e-52 SMART
BTB 153 251 8.57e-6 SMART
BACK 260 360 1.78e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106290
SMART Domains Protein: ENSMUSP00000101897
Gene: ENSMUSG00000033880

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
SR 24 124 1.43e-52 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141459
Predicted Effect probably benign
Transcript: ENSMUST00000144529
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.6%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. LGALS3BP has been found elevated in the serum of patients with cancer and in those infected by the human immunodeficiency virus (HIV). It appears to be implicated in immune response associated with natural killer (NK) and lymphokine-activated killer (LAK) cell cytotoxicity. Using fluorescence in situ hybridization the full length 90K cDNA has been localized to chromosome 17q25. The native protein binds specifically to a human macrophage-associated lectin known as Mac-2 and also binds galectin 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants are more susceptible to bacterial infection and overproduce IL-12, interferon-gamma and TNF-alpha. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l C T 8: 44,078,319 (GRCm39) C635Y probably damaging Het
Akr1b7 A G 6: 34,396,453 (GRCm39) probably null Het
Amy2a1 T G 3: 113,325,318 (GRCm39) D92A probably benign Het
Angel2 A G 1: 190,676,083 (GRCm39) T455A probably damaging Het
Angptl2 T C 2: 33,119,050 (GRCm39) probably benign Het
Ankrd40 A G 11: 94,219,153 (GRCm39) E25G probably benign Het
Asb18 T A 1: 89,920,746 (GRCm39) D136V probably damaging Het
Asphd1 T C 7: 126,545,350 (GRCm39) I336V possibly damaging Het
Birc6 C T 17: 74,962,208 (GRCm39) P58S probably damaging Het
Bsx A T 9: 40,785,460 (GRCm39) probably benign Het
Cabin1 A G 10: 75,488,843 (GRCm39) L1965P probably benign Het
Capza3 A T 6: 139,988,165 (GRCm39) I255L probably benign Het
Ccdc185 G T 1: 182,575,192 (GRCm39) A499E probably damaging Het
Cfhr4 A T 1: 139,629,558 (GRCm39) S749T probably benign Het
Cmklr1 C G 5: 113,752,990 (GRCm39) D4H possibly damaging Het
Colgalt2 G A 1: 152,276,054 (GRCm39) V56M possibly damaging Het
Dennd1b A T 1: 139,018,246 (GRCm39) T197S probably benign Het
Dhx30 A G 9: 109,914,278 (GRCm39) Y1000H probably benign Het
Dlg2 C T 7: 92,091,865 (GRCm39) A910V probably damaging Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dock5 T C 14: 68,040,535 (GRCm39) D884G probably benign Het
Fhad1 A G 4: 141,712,846 (GRCm39) S198P probably benign Het
Gabpa T C 16: 84,649,446 (GRCm39) S218P probably benign Het
Gm17654 A T 14: 43,815,494 (GRCm39) N104K unknown Het
Gm4775 T C 14: 106,338,389 (GRCm39) noncoding transcript Het
Gvin3 T A 7: 106,201,951 (GRCm39) noncoding transcript Het
Heatr1 T A 13: 12,421,500 (GRCm39) S467T possibly damaging Het
Hecw1 A G 13: 14,515,487 (GRCm39) M215T probably benign Het
Hmgn2 A T 4: 133,694,114 (GRCm39) probably benign Het
Kncn T A 4: 115,742,062 (GRCm39) I43N possibly damaging Het
Mpi T C 9: 57,452,500 (GRCm39) D344G probably damaging Het
Myom2 G A 8: 15,178,879 (GRCm39) E1304K probably damaging Het
Npat T A 9: 53,481,564 (GRCm39) F1091I probably benign Het
Nrcam T G 12: 44,610,915 (GRCm39) probably null Het
Or2a7 T A 6: 43,151,572 (GRCm39) Y217* probably null Het
Or4c114 C T 2: 88,905,024 (GRCm39) R137Q probably benign Het
Or56a4 T C 7: 104,806,383 (GRCm39) K169E probably benign Het
Pappa2 A G 1: 158,675,615 (GRCm39) S1044P probably benign Het
Pcnx4 T C 12: 72,621,222 (GRCm39) L1014S probably damaging Het
Pear1 G A 3: 87,660,002 (GRCm39) probably benign Het
Piwil2 T A 14: 70,627,348 (GRCm39) Y797F probably benign Het
Ppp2r1b T G 9: 50,770,187 (GRCm39) L81R probably damaging Het
Pxdn C A 12: 30,052,800 (GRCm39) H812Q probably damaging Het
Rad21l A T 2: 151,510,357 (GRCm39) F33I probably damaging Het
Rgs13 A T 1: 144,015,358 (GRCm39) C120S possibly damaging Het
Rp1 G A 1: 4,420,113 (GRCm39) T333M probably damaging Het
Sema6d T A 2: 124,499,941 (GRCm39) V339E probably damaging Het
Serpina3i T A 12: 104,232,862 (GRCm39) Y256N probably damaging Het
Slc13a1 A T 6: 24,150,743 (GRCm39) M65K possibly damaging Het
Slco6d1 A G 1: 98,349,064 (GRCm39) K45R probably damaging Het
Src T C 2: 157,306,641 (GRCm39) Y215H probably damaging Het
Synj2 T C 17: 6,086,750 (GRCm39) V384A possibly damaging Het
Tmeff1 T C 4: 48,650,396 (GRCm39) S285P probably damaging Het
Vmn2r125 A G 4: 156,703,456 (GRCm39) D278G possibly damaging Het
Vmn2r45 T C 7: 8,486,176 (GRCm39) K371E probably benign Het
Zfp866 A T 8: 70,218,341 (GRCm39) H426Q probably benign Het
Other mutations in Lgals3bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02377:Lgals3bp APN 11 118,284,290 (GRCm39) missense probably benign
IGL02439:Lgals3bp APN 11 118,289,046 (GRCm39) missense probably damaging 1.00
R0319:Lgals3bp UTSW 11 118,284,347 (GRCm39) missense probably damaging 1.00
R0452:Lgals3bp UTSW 11 118,284,290 (GRCm39) missense probably benign
R0499:Lgals3bp UTSW 11 118,289,019 (GRCm39) splice site probably null
R0605:Lgals3bp UTSW 11 118,284,220 (GRCm39) missense probably damaging 1.00
R0962:Lgals3bp UTSW 11 118,283,846 (GRCm39) makesense probably null
R1701:Lgals3bp UTSW 11 118,284,781 (GRCm39) missense probably damaging 1.00
R2132:Lgals3bp UTSW 11 118,284,113 (GRCm39) missense probably benign 0.00
R4696:Lgals3bp UTSW 11 118,288,977 (GRCm39) missense probably benign 0.02
R4720:Lgals3bp UTSW 11 118,289,295 (GRCm39) missense probably damaging 1.00
R4783:Lgals3bp UTSW 11 118,284,340 (GRCm39) missense probably damaging 1.00
R4785:Lgals3bp UTSW 11 118,284,340 (GRCm39) missense probably damaging 1.00
R4926:Lgals3bp UTSW 11 118,284,781 (GRCm39) missense probably damaging 1.00
R6077:Lgals3bp UTSW 11 118,290,568 (GRCm39) missense probably damaging 1.00
R6280:Lgals3bp UTSW 11 118,284,106 (GRCm39) missense possibly damaging 0.92
R7069:Lgals3bp UTSW 11 118,283,999 (GRCm39) missense probably benign 0.00
R7114:Lgals3bp UTSW 11 118,284,309 (GRCm39) nonsense probably null
R7548:Lgals3bp UTSW 11 118,287,669 (GRCm39) missense probably benign
R7638:Lgals3bp UTSW 11 118,288,995 (GRCm39) missense possibly damaging 0.91
R8354:Lgals3bp UTSW 11 118,289,367 (GRCm39) missense probably damaging 0.99
R9425:Lgals3bp UTSW 11 118,284,751 (GRCm39) missense probably damaging 1.00
R9614:Lgals3bp UTSW 11 118,284,037 (GRCm39) missense probably benign
R9720:Lgals3bp UTSW 11 118,284,083 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ACACAGCCAGCTCACTCTTG -3'
(R):5'- TGAGATGATCAATGCCCAGGG -3'

Sequencing Primer
(F):5'- TCACTCTTGGGGAGGAGAGC -3'
(R):5'- ATCAATGCCCAGGGTGGCAG -3'
Posted On 2016-10-05