Incidental Mutation 'IGL03388:Lgals9'
ID420959
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lgals9
Ensembl Gene ENSMUSG00000001123
Gene Namelectin, galactose binding, soluble 9
SynonymsLgals5, galectin-9, LGALS35, gal-9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL03388
Quality Score
Status
Chromosome11
Chromosomal Location78962974-78984946 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 78963421 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 346 (I346F)
Ref Sequence ENSEMBL: ENSMUSP00000103904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018610] [ENSMUST00000073001] [ENSMUST00000108268] [ENSMUST00000108269] [ENSMUST00000214397]
Predicted Effect probably benign
Transcript: ENSMUST00000018610
SMART Domains Protein: ENSMUSP00000018610
Gene: ENSMUSG00000020826

DomainStartEndE-ValueType
Pfam:NO_synthase 129 491 6.7e-189 PFAM
Pfam:Flavodoxin_1 535 666 5.5e-43 PFAM
Pfam:FAD_binding_1 719 941 8.8e-79 PFAM
Pfam:NAD_binding_1 973 1087 4.1e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000073001
AA Change: I345F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000072764
Gene: ENSMUSG00000001123
AA Change: I345F

DomainStartEndE-ValueType
GLECT 15 147 6.58e-55 SMART
Gal-bind_lectin 21 146 5.24e-55 SMART
GLECT 222 352 5.38e-60 SMART
Gal-bind_lectin 228 352 1.33e-65 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108268
AA Change: I315F

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103903
Gene: ENSMUSG00000001123
AA Change: I315F

DomainStartEndE-ValueType
GLECT 15 147 6.58e-55 SMART
Gal-bind_lectin 21 146 5.24e-55 SMART
GLECT 192 322 5.38e-60 SMART
Gal-bind_lectin 198 322 1.33e-65 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108269
AA Change: I346F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103904
Gene: ENSMUSG00000001123
AA Change: I346F

DomainStartEndE-ValueType
GLECT 15 147 6.58e-55 SMART
Gal-bind_lectin 21 146 5.24e-55 SMART
GLECT 223 353 5.38e-60 SMART
Gal-bind_lectin 229 353 1.33e-65 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140073
Predicted Effect probably benign
Transcript: ENSMUST00000214397
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 was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more centromeric gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased susceptibility to collagen-induced arthritis, increased T-helper 1 cells and decreased regulatory T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik T C 11: 117,802,770 probably benign Het
B3gnt5 A G 16: 19,770,051 K340R possibly damaging Het
Ccr3 A G 9: 124,028,621 probably benign Het
Cdan1 A G 2: 120,730,511 probably benign Het
Clasp1 T A 1: 118,505,503 D237E possibly damaging Het
Ddx18 T C 1: 121,565,923 K111E possibly damaging Het
Defa21 T C 8: 21,025,748 L54P probably damaging Het
Dennd3 T C 15: 73,544,359 V486A probably damaging Het
Dnah9 T A 11: 65,947,542 D3143V probably damaging Het
Dnm1l A G 16: 16,314,052 probably benign Het
Epb41 T C 4: 131,974,794 Y510C probably damaging Het
Fat4 T C 3: 38,957,227 Y2159H probably damaging Het
Fmo1 A G 1: 162,836,147 V271A probably benign Het
Gm11492 T A 11: 87,568,216 L472* probably null Het
Gm12185 A G 11: 48,908,286 V460A probably benign Het
Hspa8 T C 9: 40,804,928 probably benign Het
Hspb7 A G 4: 141,424,045 E166G probably damaging Het
Il31ra C A 13: 112,546,212 S120I probably damaging Het
Kdm5b A G 1: 134,627,322 T1323A probably benign Het
Lgi2 T C 5: 52,538,477 D372G probably damaging Het
Magi3 A C 3: 104,015,841 S1187A probably benign Het
Nr1d2 A G 14: 18,215,403 F203S probably benign Het
Nup210l G A 3: 90,170,044 V896I probably damaging Het
Nxf7 T C X: 135,584,740 K440E probably damaging Het
Olfr1505 T A 19: 13,919,620 V200D probably damaging Het
Olfr776 A T 10: 129,261,443 I161F probably benign Het
Pcdhb6 T C 18: 37,336,137 S20P probably damaging Het
Per2 G T 1: 91,444,789 probably benign Het
Pi15 G A 1: 17,602,777 A67T probably benign Het
Pnp2 A T 14: 50,963,538 N160I probably damaging Het
Ppp1r12c A G 7: 4,482,070 probably benign Het
Rabgap1l A T 1: 160,733,523 probably null Het
Rnf115 G A 3: 96,788,668 V257M probably damaging Het
Rtkn T A 6: 83,150,090 V346D probably benign Het
Rubcn A T 16: 32,841,568 N427K probably benign Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sel1l2 A C 2: 140,263,364 probably benign Het
Slc5a5 A G 8: 70,890,328 V196A probably benign Het
Sox13 A T 1: 133,388,948 L207H probably damaging Het
Tmtc2 A G 10: 105,321,483 probably benign Het
Trip12 T C 1: 84,743,186 K1409R probably damaging Het
Ttn C T 2: 76,967,137 A528T probably benign Het
Ubr4 T C 4: 139,415,032 I1310T probably damaging Het
Ypel5 T C 17: 72,846,405 F35L probably damaging Het
Zfp13 G T 17: 23,576,914 R228S probably benign Het
Other mutations in Lgals9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Lgals9 APN 11 78973151 missense probably damaging 1.00
IGL01415:Lgals9 APN 11 78973151 missense probably damaging 1.00
IGL02194:Lgals9 APN 11 78966920 critical splice acceptor site probably null
IGL02390:Lgals9 APN 11 78963535 missense probably damaging 1.00
IGL02987:Lgals9 APN 11 78967477 missense possibly damaging 0.93
IGL03288:Lgals9 APN 11 78984800 missense probably benign 0.01
R0057:Lgals9 UTSW 11 78971436 splice site probably benign
R0143:Lgals9 UTSW 11 78963535 missense probably damaging 1.00
R0325:Lgals9 UTSW 11 78963448 missense probably damaging 0.99
R0522:Lgals9 UTSW 11 78965812 missense possibly damaging 0.95
R0542:Lgals9 UTSW 11 78969720 missense possibly damaging 0.68
R0673:Lgals9 UTSW 11 78965853 missense probably damaging 1.00
R1312:Lgals9 UTSW 11 78976617 nonsense probably null
R2000:Lgals9 UTSW 11 78973170 missense probably benign 0.01
R4083:Lgals9 UTSW 11 78969763 missense possibly damaging 0.63
R4084:Lgals9 UTSW 11 78969763 missense possibly damaging 0.63
R4157:Lgals9 UTSW 11 78973107 missense possibly damaging 0.88
R4204:Lgals9 UTSW 11 78969816 splice site probably benign
R4892:Lgals9 UTSW 11 78966083 missense probably benign 0.00
R5650:Lgals9 UTSW 11 78973154 missense probably damaging 0.97
R6155:Lgals9 UTSW 11 78963505 missense probably benign 0.16
R6166:Lgals9 UTSW 11 78971358 missense probably benign 0.14
R6405:Lgals9 UTSW 11 78971385 missense probably benign 0.42
R6853:Lgals9 UTSW 11 78966006 missense probably benign 0.16
R8035:Lgals9 UTSW 11 78963476 nonsense probably null
Posted On2016-08-02