Incidental Mutation 'R0605:Lgals3bp'
ID 55670
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 038794-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R0605 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 118283573-118292787 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118284220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 453 (F453S)
Ref Sequence ENSEMBL: ENSMUSP00000035579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043722] [ENSMUST00000106290]
AlphaFold Q07797
Predicted Effect probably damaging
Transcript: ENSMUST00000043722
AA Change: F453S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035579
Gene: ENSMUSG00000033880
AA Change: F453S

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

signal peptide 1 18 N/A INTRINSIC
SR 24 124 1.43e-52 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141459
Predicted Effect probably damaging
Transcript: ENSMUST00000144529
AA Change: F14S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.3377 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.4%
Validation Efficiency 100% (85/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406P04Rik G A 10: 20,186,973 (GRCm39) probably benign Het
Adam28 A T 14: 68,844,049 (GRCm39) probably benign Het
Adamts3 A G 5: 90,009,334 (GRCm39) W110R possibly damaging Het
Add1 T C 5: 34,771,568 (GRCm39) V342A possibly damaging Het
Aff3 A G 1: 38,249,068 (GRCm39) S680P probably damaging Het
Ak9 T C 10: 41,221,135 (GRCm39) Y322H probably damaging Het
Als2 A G 1: 59,207,573 (GRCm39) L1528S probably benign Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atp6v1a A C 16: 43,931,859 (GRCm39) probably null Het
Bpi T C 2: 158,103,314 (GRCm39) L103P probably damaging Het
Cd80 G A 16: 38,303,056 (GRCm39) V168I probably benign Het
Cfh T C 1: 140,030,096 (GRCm39) S926G probably damaging Het
Chrd A T 16: 20,554,189 (GRCm39) T304S probably damaging Het
Chsy3 A G 18: 59,542,125 (GRCm39) Y421C probably damaging Het
Cmbl T G 15: 31,585,455 (GRCm39) V101G probably damaging Het
Colgalt2 T A 1: 152,371,543 (GRCm39) probably benign Het
Coq4 C T 2: 29,680,010 (GRCm39) Q101* probably null Het
Cr2 T C 1: 194,845,904 (GRCm39) probably benign Het
Cry1 T C 10: 85,020,223 (GRCm39) D38G probably damaging Het
Dmxl2 T C 9: 54,327,229 (GRCm39) D758G probably benign Het
Epsti1 C T 14: 78,164,677 (GRCm39) probably benign Het
Fam24b T C 7: 130,928,915 (GRCm39) probably benign Het
Fem1c G A 18: 46,638,227 (GRCm39) R592C probably benign Het
Foxred1 T C 9: 35,116,178 (GRCm39) Y490C possibly damaging Het
Gm9875 A G 2: 13,562,699 (GRCm39) K9R unknown Het
Grid2ip T C 5: 143,365,117 (GRCm39) S322P probably damaging Het
Gucy1b2 A G 14: 62,640,608 (GRCm39) probably benign Het
Hmcn1 A T 1: 150,533,127 (GRCm39) probably null Het
Hpdl C T 4: 116,677,984 (GRCm39) S159N possibly damaging Het
Hsd17b12 A T 2: 93,863,987 (GRCm39) M285K probably benign Het
Icam5 T C 9: 20,943,493 (GRCm39) I23T probably benign Het
Kat5 A G 19: 5,658,364 (GRCm39) probably benign Het
Lama3 A G 18: 12,640,006 (GRCm39) N67S probably benign Het
Lamb2 T C 9: 108,363,304 (GRCm39) probably benign Het
Lypd4 A G 7: 24,564,800 (GRCm39) Y113H probably damaging Het
Mdm1 C T 10: 117,982,506 (GRCm39) T47M probably damaging Het
Mei1 C A 15: 81,954,351 (GRCm39) T52K probably benign Het
Meiob G A 17: 25,037,236 (GRCm39) probably benign Het
Ndufaf6 A G 4: 11,051,224 (GRCm39) V292A probably damaging Het
Neb T A 2: 52,154,038 (GRCm39) M2358L possibly damaging Het
Nlrp1b A G 11: 71,047,005 (GRCm39) S1119P possibly damaging Het
Nsmaf A G 4: 6,418,470 (GRCm39) probably null Het
Ogfod1 T C 8: 94,773,895 (GRCm39) probably benign Het
Or5ae2 T C 7: 84,506,345 (GRCm39) I256T probably damaging Het
Or8h7 T C 2: 86,720,763 (GRCm39) Y252C possibly damaging Het
Or9s14 G T 1: 92,535,618 (GRCm39) V20L probably benign Het
Osbpl1a T A 18: 13,015,336 (GRCm39) probably null Het
Otud7b T A 3: 96,052,270 (GRCm39) probably benign Het
P3h3 T A 6: 124,832,998 (GRCm39) H185L probably damaging Het
P4htm G A 9: 108,460,923 (GRCm39) A183V probably null Het
Peak1 C T 9: 56,134,382 (GRCm39) probably benign Het
Phf20l1 A G 15: 66,466,971 (GRCm39) K88R probably damaging Het
Phlpp2 A G 8: 110,659,843 (GRCm39) N721S probably benign Het
Plagl2 T C 2: 153,077,864 (GRCm39) K39R probably benign Het
Plppr1 A T 4: 49,323,466 (GRCm39) N252I probably damaging Het
Pom121l2 C T 13: 22,166,206 (GRCm39) A159V probably damaging Het
Prom2 C A 2: 127,381,915 (GRCm39) probably null Het
Prrc2c T C 1: 162,509,995 (GRCm39) T1017A probably damaging Het
Rimbp3 G T 16: 17,029,563 (GRCm39) A996S probably damaging Het
Rnf213 A G 11: 119,322,543 (GRCm39) T1387A probably benign Het
Scaper A T 9: 55,722,802 (GRCm39) probably benign Het
Scara5 A G 14: 65,997,097 (GRCm39) E403G possibly damaging Het
Scrib T C 15: 75,939,402 (GRCm39) I94V possibly damaging Het
Shank3 T C 15: 89,408,350 (GRCm39) F67L possibly damaging Het
Shprh T C 10: 11,082,856 (GRCm39) F1562L probably damaging Het
Src C T 2: 157,311,841 (GRCm39) T529M probably damaging Het
Sycp2l T A 13: 41,296,942 (GRCm39) M341K probably benign Het
Syde1 T C 10: 78,424,929 (GRCm39) probably benign Het
Tars3 A T 7: 65,327,819 (GRCm39) R509S probably damaging Het
Tle6 T A 10: 81,430,180 (GRCm39) H324L probably damaging Het
Tnfrsf14 T A 4: 155,009,837 (GRCm39) K115* probably null Het
Trappc10 T C 10: 78,037,331 (GRCm39) N824S possibly damaging Het
Tsc1 C T 2: 28,561,790 (GRCm39) S309F probably damaging Het
Ttc21a A G 9: 119,790,908 (GRCm39) I885V possibly damaging Het
Ttn C T 2: 76,570,797 (GRCm39) A26699T probably damaging Het
Ttn T C 2: 76,778,715 (GRCm39) Y1262C unknown Het
Usp49 T C 17: 47,985,851 (GRCm39) probably null Het
Vmn1r226 A T 17: 20,908,133 (GRCm39) T122S probably benign Het
Vps8 A T 16: 21,378,087 (GRCm39) T1033S probably benign Het
Vwf C A 6: 125,662,800 (GRCm39) T2728K probably benign Het
Wdr5b T C 16: 35,862,366 (GRCm39) S162P probably benign Het
Xrn1 C T 9: 95,908,930 (GRCm39) Q1235* probably null Het
Zfp1005 A G 2: 150,110,523 (GRCm39) I404M unknown 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
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
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

Sequencing Primer
Posted On 2013-07-11