Incidental Mutation 'IGL00944:Ltb'
ID 29296
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 # IGL00944
Quality Score
Status
Chromosome 17
Chromosomal Location 35413483-35415281 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 35413642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 49 (Q49K)
Ref Sequence ENSEMBL: ENSMUSP00000025262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025262] [ENSMUST00000025263] [ENSMUST00000167924] [ENSMUST00000173600]
AlphaFold P41155
Predicted Effect possibly damaging
Transcript: ENSMUST00000025262
AA Change: Q49K

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025262
Gene: ENSMUSG00000024399
AA Change: Q49K

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 benign
Transcript: ENSMUST00000173600
SMART Domains Protein: ENSMUSP00000134706
Gene: ENSMUSG00000024399

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10b A G 11: 43,092,988 (GRCm39) N441S probably damaging Het
Bod1l A G 5: 41,974,166 (GRCm39) C2383R probably benign Het
Dapk3 G T 10: 81,019,910 (GRCm39) probably null Het
Dock6 T C 9: 21,757,930 (GRCm39) D58G possibly damaging Het
Etl4 G A 2: 20,534,865 (GRCm39) V107I possibly damaging Het
Fam163b A G 2: 27,003,597 (GRCm39) L19P probably damaging Het
Fbxl20 A C 11: 98,004,068 (GRCm39) F73L probably damaging Het
Foxj2 T C 6: 122,816,594 (GRCm39) L492P probably damaging Het
Hfm1 A T 5: 107,049,996 (GRCm39) V391E possibly damaging Het
Ift74 T C 4: 94,581,259 (GRCm39) Y586H probably damaging Het
Klhl12 A G 1: 134,411,491 (GRCm39) N280S probably benign Het
Lctl T A 9: 64,040,411 (GRCm39) Y292* probably null Het
Mapk1 T A 16: 16,853,322 (GRCm39) D289E probably benign Het
Mideas A G 12: 84,207,322 (GRCm39) probably benign Het
Mroh2b C T 15: 4,980,609 (GRCm39) probably benign Het
Myot T C 18: 44,470,181 (GRCm39) S53P possibly damaging Het
Opn5 G A 17: 42,922,119 (GRCm39) L28F probably damaging Het
Or5b97 A T 19: 12,878,719 (GRCm39) Y142N probably benign Het
Or8k39 A G 2: 86,563,905 (GRCm39) I17T possibly damaging Het
Pals2 T C 6: 50,140,436 (GRCm39) V152A possibly damaging Het
Pld1 T A 3: 28,099,247 (GRCm39) probably null Het
Rc3h2 A G 2: 37,288,250 (GRCm39) probably benign Het
Robo2 T A 16: 73,730,585 (GRCm39) H1009L possibly damaging Het
Setd7 T A 3: 51,440,459 (GRCm39) D194V probably damaging Het
Sh3bp1 A T 15: 78,789,314 (GRCm39) D288V possibly damaging Het
Smpd4 T C 16: 17,460,621 (GRCm39) I809T probably benign Het
Spata6 C T 4: 111,663,125 (GRCm39) probably benign Het
Trnau1ap C A 4: 132,055,817 (GRCm39) V30L possibly damaging Het
Trpm4 T C 7: 44,967,773 (GRCm39) H386R probably benign Het
Ttc3 T G 16: 94,227,620 (GRCm39) probably null Het
Ufd1 T C 16: 18,643,781 (GRCm39) V180A possibly damaging Het
Vmn2r102 A G 17: 19,899,154 (GRCm39) I499V probably damaging Het
Zfp112 C A 7: 23,825,021 (GRCm39) Q330K probably benign Het
Zfp668 G A 7: 127,467,079 (GRCm39) R166W probably damaging Het
Other mutations in Ltb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Ltb APN 17 35,413,576 (GRCm39) missense probably benign 0.04
IGL02263:Ltb APN 17 35,414,977 (GRCm39) missense probably damaging 1.00
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 2013-04-17