Incidental Mutation 'IGL02377:Lgals3bp'
ID 291188
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lgals3bp
Ensembl Gene ENSMUSG00000033880
Gene Name lectin, galactoside-binding, soluble, 3 binding protein
Synonyms Tango10b, CyCAP, MAC-2BP, 90K, Ppicap
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL02377
Quality Score
Status
Chromosome 11
Chromosomal Location 118283573-118292787 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118284290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 430 (Y430N)
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: Y430N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035579
Gene: ENSMUSG00000033880
AA Change: Y430N

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
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 119,937,689 (GRCm39) probably benign Het
Abca15 T C 7: 119,965,133 (GRCm39) probably benign Het
App T C 16: 84,879,719 (GRCm39) Q138R probably benign Het
Asah2 T A 19: 31,986,814 (GRCm39) I529F probably benign Het
Atp8b3 A G 10: 80,356,128 (GRCm39) S1195P probably benign Het
Brca1 A G 11: 101,415,149 (GRCm39) M134T probably benign Het
Cacna1s T C 1: 135,996,732 (GRCm39) L111P probably damaging Het
Capns2 A T 8: 93,628,215 (GRCm39) N35Y probably benign Het
Ccne1 A G 7: 37,798,415 (GRCm39) probably null Het
Cfap91 G T 16: 38,153,181 (GRCm39) probably benign Het
Csf1r G T 18: 61,257,540 (GRCm39) probably benign Het
Dipk2b T A X: 18,313,930 (GRCm39) I131F possibly damaging Het
Dlg3 A T X: 99,817,007 (GRCm39) Y326F possibly damaging Het
Dnah8 T C 17: 31,013,770 (GRCm39) V3837A probably damaging Het
Dock10 A G 1: 80,562,711 (GRCm39) probably null Het
Emg1 A G 6: 124,681,620 (GRCm39) V208A probably benign Het
Eml6 T A 11: 29,727,282 (GRCm39) D1280V probably damaging Het
Ep400 T C 5: 110,868,691 (GRCm39) D911G unknown Het
Fam171a1 T C 2: 3,224,623 (GRCm39) probably null Het
Fcgbp T C 7: 27,806,395 (GRCm39) V2121A possibly damaging Het
Fggy G A 4: 95,511,714 (GRCm39) probably benign Het
Fignl1 G T 11: 11,752,845 (GRCm39) T70K possibly damaging Het
Fndc3b T C 3: 27,674,801 (GRCm39) E47G probably damaging Het
Frmd4a A G 2: 4,539,385 (GRCm39) K189E possibly damaging Het
Hpse T A 5: 100,839,199 (GRCm39) Y383F probably damaging Het
Ip6k2 T C 9: 108,681,798 (GRCm39) L197P probably damaging Het
Klf1 A C 8: 85,631,561 (GRCm39) H375P probably damaging Het
Krtap6-5 T A 16: 88,844,734 (GRCm39) probably benign Het
Lacc1 A T 14: 77,267,055 (GRCm39) S403T probably damaging Het
Lama3 A G 18: 12,689,807 (GRCm39) I2850V possibly damaging Het
Lats2 C T 14: 57,929,052 (GRCm39) R941Q probably damaging Het
Lrig3 A T 10: 125,850,743 (GRCm39) H1103L probably benign Het
Lrrc40 G A 3: 157,742,365 (GRCm39) M1I probably null Het
Magee2 A T X: 103,900,399 (GRCm39) V84D possibly damaging Het
Msantd2 G A 9: 37,434,602 (GRCm39) V281I possibly damaging Het
Mycbpap A G 11: 94,394,076 (GRCm39) V340A probably damaging Het
Myh6 A T 14: 55,181,775 (GRCm39) M1842K probably benign Het
Mylk4 T C 13: 32,906,130 (GRCm39) D145G possibly damaging Het
Nfkbid C T 7: 30,124,689 (GRCm39) Q160* probably null Het
Or11h6 T A 14: 50,879,975 (GRCm39) probably null Het
Or2y1d A T 11: 49,321,859 (GRCm39) K185N probably damaging Het
Or5w1b T A 2: 87,475,630 (GRCm39) Y279F probably damaging Het
Or7e168 C T 9: 19,720,343 (GRCm39) S243F probably damaging Het
Or8c11 A T 9: 38,289,542 (GRCm39) T122S probably damaging Het
Or9q2 T G 19: 13,772,693 (GRCm39) Q94P possibly damaging Het
Pdgfrb A C 18: 61,213,404 (GRCm39) Q916P probably damaging Het
Pex14 T C 4: 149,050,743 (GRCm39) Q174R probably benign Het
Pogz T C 3: 94,786,321 (GRCm39) S970P probably damaging Het
Potegl T C 2: 23,102,667 (GRCm39) probably benign Het
Rabggta A G 14: 55,955,952 (GRCm39) V165A possibly damaging Het
Rdh10 G A 1: 16,176,438 (GRCm39) W66* probably null Het
Ripor2 T A 13: 24,879,549 (GRCm39) probably benign Het
Slc35g1 T A 19: 38,391,678 (GRCm39) M320K possibly damaging Het
Slc9a7 A G X: 20,068,963 (GRCm39) Y197H probably damaging Het
Smn1 T C 13: 100,272,192 (GRCm39) probably benign Het
Spam1 G A 6: 24,796,696 (GRCm39) G216S probably damaging Het
Spata31 A T 13: 65,068,194 (GRCm39) N114I probably damaging Het
Sptbn1 A T 11: 30,069,491 (GRCm39) V1615D possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Thoc2 T A X: 40,914,355 (GRCm39) Q1005H possibly damaging Het
Thra G A 11: 98,652,742 (GRCm39) R189Q probably damaging Het
Trappc11 A T 8: 47,983,685 (GRCm39) probably null Het
Vps13d G T 4: 144,882,934 (GRCm39) H886Q probably damaging Het
Zfp157 G A 5: 138,445,859 (GRCm39) W71* probably null Het
Other mutations in Lgals3bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16