Incidental Mutation 'IGL02072:Tnfsf4'
ID185855
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: 0.136) question?
Stock #IGL02072
Quality Score
Status
Chromosome1
Chromosomal Location161395409-161418410 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 161417289 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 183 (C183F)
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 probably damaging
Transcript: ENSMUST00000028024
AA Change: C183F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028024
Gene: ENSMUSG00000026700
AA Change: C183F

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595D18Rik T A 12: 111,161,820 probably benign Het
Atm A G 9: 53,459,796 S2251P probably benign Het
C1qtnf6 T A 15: 78,527,351 K42* probably null Het
Ddx20 A T 3: 105,680,627 V379E probably damaging Het
Dnah7a A T 1: 53,605,827 W1017R probably damaging Het
Eif2s1 T A 12: 78,880,014 N179K probably benign Het
Exosc9 A T 3: 36,554,672 N140I probably damaging Het
Fam84b A G 15: 60,823,453 L148P probably damaging Het
Fancg A C 4: 43,007,062 H238Q probably benign Het
Fyttd1 A G 16: 32,900,661 I110V probably damaging Het
G6pd2 A T 5: 61,809,410 D176V probably damaging Het
Gm5114 A G 7: 39,411,402 S8P probably benign Het
Hoxa1 T A 6: 52,156,898 M283L probably damaging Het
Hspbp1 A T 7: 4,677,721 L252H probably damaging Het
Itgb2l A T 16: 96,430,608 D319E probably benign Het
Kdm6a A G X: 18,254,289 T737A probably benign Het
Kmt2c A T 5: 25,405,432 D225E possibly damaging Het
Lamb2 T A 9: 108,481,908 Y274* probably null Het
Mamdc4 A G 2: 25,568,339 L353P probably damaging Het
Mid2 T A X: 140,736,452 H258Q probably damaging Het
Msh3 A C 13: 92,300,295 N502K probably damaging Het
Nalcn T C 14: 123,323,358 H769R probably benign Het
Nfx1 A G 4: 41,016,119 I894V probably benign Het
Notch3 G A 17: 32,147,074 Q1018* probably null Het
Oas1e A G 5: 120,791,781 probably null Het
Olfr1316 A T 2: 112,130,081 H243Q probably damaging Het
Olfr854 A G 9: 19,566,949 I145T probably benign Het
Plekha4 T A 7: 45,538,298 F265I probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Slc9a3 T C 13: 74,165,859 I762T probably benign Het
Spag1 C A 15: 36,190,512 P158Q probably damaging Het
Spout1 G A 2: 30,177,926 Q26* probably null Het
Sulf1 T C 1: 12,848,208 Y50H probably damaging Het
Sytl5 C T X: 9,963,586 probably benign Het
Tcof1 T C 18: 60,831,565 E663G possibly damaging Het
Tmc3 A G 7: 83,615,940 I681V probably benign Het
Ubqln3 A T 7: 104,141,299 L528Q possibly damaging Het
Upf3a A C 8: 13,798,368 Q388P probably damaging Het
Vrk1 T C 12: 106,042,885 V70A probably benign Het
Other mutations in Tnfsf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02400:Tnfsf4 APN 1 161395705 missense possibly damaging 0.92
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 On2014-05-07