Incidental Mutation 'IGL02400:Tnfsf4'
ID291860
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfsf4
Ensembl Gene ENSMUSG00000026700
Gene Nametumor necrosis factor (ligand) superfamily, member 4
SynonymsAth-1, CD134L, OX40L, Txgp1l, Ath1, TXGP1, gp34
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.176) question?
Stock #IGL02400
Quality Score
Status
Chromosome1
Chromosomal Location161395409-161418410 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 161395705 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 42 (C42S)
Ref Sequence ENSEMBL: ENSMUSP00000028024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028024]
PDB Structure
The X-ray crystal structure of murine OX40L [X-RAY DIFFRACTION]
Crystal structure of murine OX40L bound to human OX40 [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028024
AA Change: C42S

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028024
Gene: ENSMUSG00000026700
AA Change: C42S

DomainStartEndE-ValueType
TNF 59 187 2.03e-37 SMART
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 cytokine of the tumor necrosis factor (TNF) ligand family. The encoded protein functions in T cell antigen-presenting cell (APC) interactions and mediates adhesion of activated T cells to endothelial cells. Polymorphisms in this gene have been associated with Sjogren's syndrome and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous inactivation of this gene leads to an impaired contact hypersensitivity response due to defects in T cell priming and cytokine production. Homozygosity for a null allele confers resistance to autoimmune diabetes development in nonobese diabetic mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A G 10: 76,454,810 I128V possibly damaging Het
Arfgef3 G T 10: 18,646,257 Q674K probably damaging Het
Atp6v0a2 T A 5: 124,721,785 N851K probably benign Het
Chrna7 A G 7: 63,099,322 C471R probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Egflam T A 15: 7,247,053 K544M probably benign Het
Erbb3 A C 10: 128,579,524 N385K probably benign Het
Fancm A G 12: 65,113,815 R1388G probably damaging Het
Gm10720 C A 9: 3,016,900 probably null Het
Gm20489 A T X: 101,263,338 N328K possibly damaging Het
Gm5828 G T 1: 16,769,818 noncoding transcript Het
Gnaq T C 19: 16,316,128 Y145H probably damaging Het
Itgbl1 A G 14: 123,846,526 D148G probably damaging Het
Myc T G 15: 61,989,911 probably benign Het
Olfr1033 A T 2: 86,042,076 I254F probably benign Het
Olfr801 A G 10: 129,669,883 V212A probably damaging Het
Olfr975 A G 9: 39,950,339 V144A probably benign Het
Padi3 T G 4: 140,788,868 K567T probably benign Het
Pi4ka T C 16: 17,293,884 T1576A probably damaging Het
Pikfyve A G 1: 65,252,569 R1316G probably damaging Het
Ryr2 A G 13: 11,605,244 probably benign Het
Sash1 G A 10: 8,733,647 R713* probably null Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Tpp1 A G 7: 105,747,031 I487T possibly damaging Het
Trim43a T A 9: 88,582,112 N25K probably benign Het
Tuft1 T C 3: 94,635,502 probably benign Het
Usp46 T C 5: 74,037,052 H26R probably benign Het
Zfp560 A T 9: 20,350,600 I85N possibly damaging Het
Other mutations in Tnfsf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02072:Tnfsf4 APN 1 161417289 missense probably damaging 1.00
IGL03028:Tnfsf4 APN 1 161395642 missense possibly damaging 0.90
R1271:Tnfsf4 UTSW 1 161395703 missense probably damaging 0.99
R3701:Tnfsf4 UTSW 1 161417207 missense possibly damaging 0.48
R4506:Tnfsf4 UTSW 1 161417174 missense probably damaging 0.98
R5276:Tnfsf4 UTSW 1 161417013 missense possibly damaging 0.76
R5935:Tnfsf4 UTSW 1 161417248 missense probably damaging 0.99
R6931:Tnfsf4 UTSW 1 161417073 missense possibly damaging 0.81
R7091:Tnfsf4 UTSW 1 161395697 missense probably benign 0.00
R7225:Tnfsf4 UTSW 1 161417250 missense possibly damaging 0.94
R7646:Tnfsf4 UTSW 1 161417162 missense possibly damaging 0.50
R7651:Tnfsf4 UTSW 1 161417022 missense probably benign 0.35
Posted On2015-04-16