Incidental Mutation 'IGL02407:Lgals8'
ID 292119
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lgals8
Ensembl Gene ENSMUSG00000057554
Gene Name lectin, galactose binding, soluble 8
Synonyms D13Ertd524e, Lgals-8, 1200015E08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL02407
Quality Score
Status
Chromosome 13
Chromosomal Location 12454296-12479825 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12469699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 87 (W87R)
Ref Sequence ENSEMBL: ENSMUSP00000115094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099820] [ENSMUST00000099821] [ENSMUST00000124888] [ENSMUST00000135166] [ENSMUST00000143693] [ENSMUST00000144283]
AlphaFold Q9JL15
Predicted Effect probably benign
Transcript: ENSMUST00000099820
AA Change: W87R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000097408
Gene: ENSMUSG00000057554
AA Change: W87R

DomainStartEndE-ValueType
GLECT 16 151 3.05e-50 SMART
Gal-bind_lectin 22 150 7.41e-55 SMART
GLECT 184 316 1.38e-48 SMART
Gal-bind_lectin 190 315 1.28e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099821
AA Change: W87R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000097409
Gene: ENSMUSG00000057554
AA Change: W87R

DomainStartEndE-ValueType
GLECT 16 151 3.05e-50 SMART
Gal-bind_lectin 22 150 7.41e-55 SMART
GLECT 184 316 1.38e-48 SMART
Gal-bind_lectin 190 315 1.28e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124888
AA Change: W87R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000115094
Gene: ENSMUSG00000057554
AA Change: W87R

DomainStartEndE-ValueType
GLECT 16 151 3.05e-50 SMART
Gal-bind_lectin 22 150 7.41e-55 SMART
GLECT 184 316 1.38e-48 SMART
Gal-bind_lectin 190 315 1.28e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135060
Predicted Effect probably benign
Transcript: ENSMUST00000135166
SMART Domains Protein: ENSMUSP00000120210
Gene: ENSMUSG00000057554

DomainStartEndE-ValueType
Pfam:Gal-bind_lectin 1 57 4e-16 PFAM
GLECT 91 223 1.38e-48 SMART
Gal-bind_lectin 97 222 1.28e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143693
SMART Domains Protein: ENSMUSP00000118925
Gene: ENSMUSG00000057554

DomainStartEndE-ValueType
Pfam:Gal-bind_lectin 1 57 4e-16 PFAM
GLECT 91 223 1.38e-48 SMART
Gal-bind_lectin 97 222 1.28e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144283
AA Change: W87R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114200
Gene: ENSMUSG00000057554
AA Change: W87R

DomainStartEndE-ValueType
GLECT 16 151 3.05e-50 SMART
Gal-bind_lectin 22 150 7.41e-55 SMART
GLECT 193 325 1.38e-48 SMART
Gal-bind_lectin 199 324 1.28e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155871
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. Galectins are beta-galactoside-binding animal lectins with conserved carbohydrate recognition domains. The galectins have been implicated in many essential functions including development, differentiation, cell-cell adhesion, cell-matrix interaction, growth regulation, apoptosis, and RNA splicing. This gene is widely expressed in tumoral tissues and seems to be involved in integrin-like cell interactions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced VEGF-C-induced lymphangiogenesis, and ameliorated corneal pathology and lymphangiogenesis in a model of herpes simplex virus keratitis. Mice homozygous for a gene trapped allele exhibit hyperactivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G A 6: 121,645,575 (GRCm39) W1040* probably null Het
Adgrv1 C A 13: 81,627,789 (GRCm39) A3691S probably damaging Het
Als2cl T A 9: 110,718,295 (GRCm39) Y345* probably null Het
Aplp2 A T 9: 31,069,823 (GRCm39) Y496* probably null Het
Ash1l T C 3: 88,979,855 (GRCm39) V2793A probably damaging Het
Bfsp1 A T 2: 143,668,853 (GRCm39) D575E probably benign Het
Ceacam20 G T 7: 19,704,332 (GRCm39) V128F probably benign Het
Cers4 A T 8: 4,570,306 (GRCm39) K204* probably null Het
Cog1 T C 11: 113,544,852 (GRCm39) Y345H probably benign Het
Col14a1 T C 15: 55,312,272 (GRCm39) probably benign Het
Col19a1 A T 1: 24,351,453 (GRCm39) probably null Het
Ctnnd2 T A 15: 30,966,914 (GRCm39) M955K probably damaging Het
Cyp3a16 A T 5: 145,388,652 (GRCm39) M275K probably damaging Het
Degs2 T G 12: 108,658,254 (GRCm39) T242P probably damaging Het
Elac2 T C 11: 64,890,001 (GRCm39) V612A probably benign Het
Elovl6 T A 3: 129,398,733 (GRCm39) F45I probably damaging Het
Exoc1 A C 5: 76,693,193 (GRCm39) N360H probably damaging Het
Fam221b A T 4: 43,666,309 (GRCm39) S101T possibly damaging Het
Garre1 A T 7: 33,955,909 (GRCm39) N393K probably damaging Het
Glyr1 A G 16: 4,854,812 (GRCm39) F89L probably benign Het
Herc4 C A 10: 63,142,203 (GRCm39) T668K probably damaging Het
Hibadh C T 6: 52,525,874 (GRCm39) V259I possibly damaging Het
Hp1bp3 T A 4: 137,967,983 (GRCm39) D397E probably damaging Het
Ift80 G T 3: 68,805,869 (GRCm39) D724E probably benign Het
Igkv3-10 T C 6: 70,550,223 (GRCm39) probably benign Het
Irf9 G T 14: 55,842,678 (GRCm39) A75S possibly damaging Het
Kif13a C T 13: 46,938,769 (GRCm39) V76M probably damaging Het
Krt4 T C 15: 101,829,740 (GRCm39) I263V probably benign Het
Mccc2 G A 13: 100,127,816 (GRCm39) P96L probably damaging Het
Megf11 A C 9: 64,587,531 (GRCm39) D443A probably damaging Het
Nckap5l T C 15: 99,321,008 (GRCm39) probably benign Het
Ndor1 A G 2: 25,139,281 (GRCm39) V230A probably benign Het
Nif3l1 G T 1: 58,496,956 (GRCm39) V294L possibly damaging Het
Or4k39 T A 2: 111,238,923 (GRCm39) noncoding transcript Het
Pcdhb13 T A 18: 37,576,128 (GRCm39) Y169N probably damaging Het
Peg3 A G 7: 6,710,635 (GRCm39) I1529T probably damaging Het
Piezo2 T A 18: 63,279,915 (GRCm39) I219F probably damaging Het
Prpf38a G A 4: 108,424,836 (GRCm39) R242W unknown Het
Prrc2a A T 17: 35,379,480 (GRCm39) D255E unknown Het
Rapgef6 G T 11: 54,567,181 (GRCm39) D1121Y possibly damaging Het
Ryr3 T A 2: 112,585,303 (GRCm39) H2761L probably damaging Het
Sel1l A T 12: 91,810,042 (GRCm39) probably benign Het
Slc30a9 A G 5: 67,510,065 (GRCm39) D539G probably damaging Het
Slc38a9 A G 13: 112,826,777 (GRCm39) S172G probably benign Het
Slfn2 C A 11: 82,960,402 (GRCm39) T127K probably benign Het
Smurf1 A T 5: 144,821,534 (GRCm39) M496K probably damaging Het
Srgap2 A T 1: 131,247,340 (GRCm39) V564D probably damaging Het
Stk32a T C 18: 43,430,576 (GRCm39) I162T probably benign Het
Tchhl1 A T 3: 93,378,634 (GRCm39) N446I possibly damaging Het
Tmem64 T A 4: 15,266,584 (GRCm39) H211Q probably damaging Het
Trim3 T C 7: 105,262,218 (GRCm39) N586S probably benign Het
Trpm1 A G 7: 63,868,869 (GRCm39) E507G probably damaging Het
Tyk2 G T 9: 21,020,523 (GRCm39) probably benign Het
Ugt3a1 A T 15: 9,365,316 (GRCm39) K310* probably null Het
Unc13a T A 8: 72,101,586 (GRCm39) N1022Y probably damaging Het
Vmn1r172 A T 7: 23,359,228 (GRCm39) N38Y probably damaging Het
Vmn2r100 A T 17: 19,741,770 (GRCm39) I161F probably damaging Het
Zcchc17 A G 4: 130,243,108 (GRCm39) M25T probably benign Het
Zfp563 G A 17: 33,323,795 (GRCm39) R130Q probably benign Het
Zhx2 A G 15: 57,686,802 (GRCm39) S724G probably benign Het
Other mutations in Lgals8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01601:Lgals8 APN 13 12,471,219 (GRCm39) splice site probably benign
R0015:Lgals8 UTSW 13 12,462,179 (GRCm39) missense probably damaging 1.00
R0015:Lgals8 UTSW 13 12,462,179 (GRCm39) missense probably damaging 1.00
R0973:Lgals8 UTSW 13 12,466,276 (GRCm39) splice site probably benign
R1452:Lgals8 UTSW 13 12,468,208 (GRCm39) nonsense probably null
R1748:Lgals8 UTSW 13 12,469,824 (GRCm39) missense probably damaging 1.00
R1939:Lgals8 UTSW 13 12,474,069 (GRCm39) missense probably benign 0.00
R2076:Lgals8 UTSW 13 12,469,750 (GRCm39) nonsense probably null
R2214:Lgals8 UTSW 13 12,469,713 (GRCm39) missense probably benign 0.02
R4568:Lgals8 UTSW 13 12,468,254 (GRCm39) missense probably damaging 1.00
R4791:Lgals8 UTSW 13 12,468,203 (GRCm39) missense possibly damaging 0.94
R5243:Lgals8 UTSW 13 12,469,645 (GRCm39) missense probably benign 0.27
R6947:Lgals8 UTSW 13 12,469,682 (GRCm39) start gained probably benign
R7476:Lgals8 UTSW 13 12,463,362 (GRCm39) missense probably damaging 0.97
R7515:Lgals8 UTSW 13 12,463,343 (GRCm39) nonsense probably null
R7942:Lgals8 UTSW 13 12,468,137 (GRCm39) critical splice donor site probably null
R8208:Lgals8 UTSW 13 12,468,255 (GRCm39) missense probably damaging 1.00
R8674:Lgals8 UTSW 13 12,462,117 (GRCm39) missense probably damaging 1.00
R9232:Lgals8 UTSW 13 12,469,777 (GRCm39) missense probably damaging 1.00
R9727:Lgals8 UTSW 13 12,462,038 (GRCm39) missense possibly damaging 0.67
R9785:Lgals8 UTSW 13 12,462,051 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16