Incidental Mutation 'IGL02263:Ltb'
ID 286822
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ltb
Ensembl Gene ENSMUSG00000024399
Gene Name lymphotoxin B
Synonyms p33, Tnfc, lymphotoxin beta, LTbeta, Tnfsf3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL02263
Quality Score
Status
Chromosome 17
Chromosomal Location 35413483-35415281 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35414977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 259 (Y259C)
Ref Sequence ENSEMBL: ENSMUSP00000025262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025262] [ENSMUST00000025263] [ENSMUST00000167924] [ENSMUST00000173600]
AlphaFold P41155
Predicted Effect probably damaging
Transcript: ENSMUST00000025262
AA Change: Y259C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025262
Gene: ENSMUSG00000024399
AA Change: Y259C

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
low complexity region 72 85 N/A INTRINSIC
TNF 154 305 8.76e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000025263
SMART Domains Protein: ENSMUSP00000025263
Gene: ENSMUSG00000024401

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
TNF 91 235 1.59e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167924
SMART Domains Protein: ENSMUSP00000126122
Gene: ENSMUSG00000024401

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
TNF 74 219 2.8e-49 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173510
Predicted Effect probably damaging
Transcript: ENSMUST00000173600
AA Change: Y138C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134706
Gene: ENSMUSG00000024399
AA Change: Y138C

DomainStartEndE-ValueType
TNF 33 184 8.76e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183646
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lymphotoxin beta is a type II membrane protein of the TNF family. It anchors lymphotoxin-alpha to the cell surface through heterotrimer formation. The predominant form on the lymphocyte surface is the lymphotoxin-alpha 1/beta 2 complex (e.g. 1 molecule alpha/2 molecules beta) and this complex is the primary ligand for the lymphotoxin-beta receptor. The minor complex is lymphotoxin-alpha 2/beta 1. LTB is an inducer of the inflammatory response system and involved in normal development of lymphoid tissue. Lymphotoxin-beta isoform b is unable to complex with lymphotoxin-alpha suggesting a function for lymphotoxin-beta which is independent of lympyhotoxin-alpha. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations lack peripheral lymph nodes, Peyer's patches, splenic germinal centers and follicular dendritic cells. Mutants exhibit lymphocytosis in the circulation and peritoneal cavity with infiltrations of the lung and liver. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 A G 1: 38,574,680 (GRCm39) V100A probably damaging Het
Agmo T A 12: 37,407,696 (GRCm39) N193K probably damaging Het
Dnah8 A G 17: 30,948,139 (GRCm39) I1910V probably benign Het
Dsg2 T A 18: 20,723,077 (GRCm39) S368T possibly damaging Het
Eif2ak4 A G 2: 118,292,259 (GRCm39) T1270A probably benign Het
Ina T C 19: 47,003,926 (GRCm39) S245P probably damaging Het
Katnb1 A G 8: 95,816,703 (GRCm39) K96R probably damaging Het
Kcnj4 A G 15: 79,369,988 (GRCm39) probably benign Het
Kcnn3 A G 3: 89,568,525 (GRCm39) H601R possibly damaging Het
Lrrc25 C A 8: 71,070,472 (GRCm39) F84L probably benign Het
Macc1 T G 12: 119,409,752 (GRCm39) N173K possibly damaging Het
Med17 A T 9: 15,178,772 (GRCm39) N466K probably damaging Het
Ncoa2 A T 1: 13,244,987 (GRCm39) N570K probably damaging Het
Or52ae9 A T 7: 103,390,262 (GRCm39) F62I probably damaging Het
Or5w1 A T 2: 87,486,543 (GRCm39) C241S probably damaging Het
Or8k20 T A 2: 86,106,546 (GRCm39) Y95F probably benign Het
Plb1 T C 5: 32,478,692 (GRCm39) probably benign Het
Ptprk G A 10: 27,951,110 (GRCm39) V12I unknown Het
Rabggta G A 14: 55,956,418 (GRCm39) probably benign Het
Slc41a2 A G 10: 83,149,364 (GRCm39) V193A possibly damaging Het
Thbs1 A G 2: 117,950,361 (GRCm39) N665D probably benign Het
Tm9sf1 T C 14: 55,880,392 (GRCm39) T2A possibly damaging Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Vmn1r91 A G 7: 19,835,768 (GRCm39) D229G probably benign Het
Vmn2r7 A C 3: 64,598,868 (GRCm39) V654G probably damaging Het
Other mutations in Ltb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Ltb APN 17 35,413,642 (GRCm39) missense possibly damaging 0.78
IGL01112:Ltb APN 17 35,413,576 (GRCm39) missense probably benign 0.04
IGL02983:Ltb APN 17 35,413,646 (GRCm39) missense probably benign 0.15
IGL02995:Ltb APN 17 35,414,348 (GRCm39) splice site probably benign
IGL03389:Ltb APN 17 35,414,044 (GRCm39) missense probably benign 0.00
R0103:Ltb UTSW 17 35,414,016 (GRCm39) intron probably benign
R0103:Ltb UTSW 17 35,414,016 (GRCm39) intron probably benign
R2060:Ltb UTSW 17 35,414,739 (GRCm39) missense probably damaging 0.97
R4718:Ltb UTSW 17 35,414,313 (GRCm39) splice site probably null
R4823:Ltb UTSW 17 35,414,206 (GRCm39) missense probably benign
R4884:Ltb UTSW 17 35,414,234 (GRCm39) missense probably benign
R5231:Ltb UTSW 17 35,414,802 (GRCm39) missense probably damaging 1.00
R5327:Ltb UTSW 17 35,414,935 (GRCm39) missense probably damaging 1.00
R8297:Ltb UTSW 17 35,413,655 (GRCm39) missense probably benign 0.00
R8344:Ltb UTSW 17 35,414,169 (GRCm39) missense probably benign 0.41
R9778:Ltb UTSW 17 35,414,906 (GRCm39) nonsense probably null
Posted On 2015-04-16