Incidental Mutation 'R6077:Lgals3bp'
ID 482808
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 044238-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R6077 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 118283573-118292787 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118290568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 13 (V13A)
Ref Sequence ENSEMBL: ENSMUSP00000101897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043722] [ENSMUST00000106290] [ENSMUST00000127054]
AlphaFold Q07797
Predicted Effect probably damaging
Transcript: ENSMUST00000043722
AA Change: V13A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035579
Gene: ENSMUSG00000033880
AA Change: V13A

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 damaging
Transcript: ENSMUST00000106290
AA Change: V13A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101897
Gene: ENSMUSG00000033880
AA Change: V13A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
SR 24 124 1.43e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141459
Predicted Effect probably benign
Transcript: ENSMUST00000144529
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly C T 11: 100,410,583 (GRCm39) V132I probably benign Het
Adgrb3 A T 1: 25,133,081 (GRCm39) L1335* probably null Het
Adgre5 A G 8: 84,454,595 (GRCm39) S301P probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Aldh1b1 A G 4: 45,802,525 (GRCm39) Y21C possibly damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Ankrd7 T A 6: 18,868,071 (GRCm39) S112R probably benign Het
Arhgap23 T A 11: 97,382,058 (GRCm39) probably null Het
Atp4a G A 7: 30,415,344 (GRCm39) M321I probably benign Het
C2cd4d A T 3: 94,271,615 (GRCm39) R294W probably damaging Het
Carns1 T C 19: 4,220,875 (GRCm39) I352V probably benign Het
Cdh17 T A 4: 11,803,969 (GRCm39) S547R probably benign Het
Cdyl2 G T 8: 117,316,129 (GRCm39) N286K probably damaging Het
Fam186a C A 15: 99,840,584 (GRCm39) V1887L possibly damaging Het
Fat4 C T 3: 39,056,951 (GRCm39) R4216C probably damaging Het
Fcamr T C 1: 130,740,663 (GRCm39) W361R probably damaging Het
Helz2 G A 2: 180,874,831 (GRCm39) P1888S probably benign Het
Itih1 A T 14: 30,651,833 (GRCm39) F840L possibly damaging Het
Kansl2 T C 15: 98,429,312 (GRCm39) D146G probably benign Het
Kcnk18 T C 19: 59,223,746 (GRCm39) V297A probably damaging Het
Kif1a T C 1: 92,982,618 (GRCm39) T720A possibly damaging Het
Kl C G 5: 150,876,466 (GRCm39) F95L probably damaging Het
Large2 C T 2: 92,196,915 (GRCm39) R423K probably benign Het
Lrrd1 A G 5: 3,900,837 (GRCm39) I381V probably benign Het
Mastl A T 2: 23,045,806 (GRCm39) I23N probably damaging Het
Mettl23 T C 11: 116,739,728 (GRCm39) V1A possibly damaging Het
Mindy2 A G 9: 70,538,363 (GRCm39) V324A probably damaging Het
Mtmr4 T A 11: 87,501,845 (GRCm39) L633Q probably damaging Het
Myh1 G A 11: 67,102,273 (GRCm39) E855K probably damaging Het
Nin C T 12: 70,066,006 (GRCm39) A2026T probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Or2w1 A T 13: 21,317,463 (GRCm39) I173F probably benign Het
Otulin T C 15: 27,611,696 (GRCm39) T166A probably benign Het
P2ry14 T A 3: 59,022,798 (GRCm39) R230W probably damaging Het
Pcsk4 T C 10: 80,162,073 (GRCm39) E83G probably damaging Het
Raet1e C A 10: 22,057,887 (GRCm39) T218N possibly damaging Het
Rsf1 GCGGCGGC GCGGCGGCGTCGGCGGC 7: 97,229,135 (GRCm39) probably benign Het
Safb G A 17: 56,909,956 (GRCm39) probably benign Het
Scn7a T A 2: 66,527,940 (GRCm39) N850I probably damaging Het
Slc16a4 A G 3: 107,208,381 (GRCm39) D297G possibly damaging Het
Tcf7l2 A T 19: 55,905,868 (GRCm39) K278* probably null Het
Tesmin T C 19: 3,439,260 (GRCm39) V104A possibly damaging Het
Tiam1 A G 16: 89,594,918 (GRCm39) probably null Het
Tmc4 T C 7: 3,670,526 (GRCm39) T522A probably damaging Het
Tmprss3 T A 17: 31,408,141 (GRCm39) I274F possibly damaging Het
Topbp1 A G 9: 103,210,189 (GRCm39) K916E probably damaging Het
Trdv1 A G 14: 54,119,513 (GRCm39) D58G probably benign Het
Ube2g2 G T 10: 77,458,139 (GRCm39) probably benign Het
Unc5d G T 8: 29,165,335 (GRCm39) Q747K possibly damaging Het
Xpo6 A G 7: 125,709,124 (GRCm39) V819A possibly damaging Het
Zan T A 5: 137,412,559 (GRCm39) probably benign Het
Zfp317 T A 9: 19,558,184 (GRCm39) W133R 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
R5504:Lgals3bp UTSW 11 118,284,811 (GRCm39) missense probably benign 0.37
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'- TACCTGCATTTCACTTGGGTGC -3'
(R):5'- CATCTGGGCCTTACACAAGAG -3'

Sequencing Primer
(F):5'- GAGCACCAGGGGCCATAC -3'
(R):5'- TGGGCCTTACACAAGAGTACCAC -3'
Posted On 2017-07-14