Incidental Mutation 'IGL02072:Tnfsf4'
ID 185855
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfsf4
Ensembl Gene ENSMUSG00000026700
Gene Name tumor necrosis factor (ligand) superfamily, member 4
Synonyms OX40L, TXGP1, gp34, CD134L, Txgp1l, Ath-1, Ath1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL02072
Quality Score
Status
Chromosome 1
Chromosomal Location 161223009-161245777 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 161244860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 183 (C183F)
Ref Sequence ENSEMBL: ENSMUSP00000028024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028024]
AlphaFold P43488
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: 111,128,254 (GRCm39) probably benign Het
Atm A G 9: 53,371,096 (GRCm39) S2251P probably benign Het
C1qtnf6 T A 15: 78,411,551 (GRCm39) K42* probably null Het
Ddx20 A T 3: 105,587,943 (GRCm39) V379E probably damaging Het
Dnah7a A T 1: 53,644,986 (GRCm39) W1017R probably damaging Het
Eif2s1 T A 12: 78,926,788 (GRCm39) N179K probably benign Het
Exosc9 A T 3: 36,608,821 (GRCm39) N140I probably damaging Het
Fancg A C 4: 43,007,062 (GRCm39) H238Q probably benign Het
Fyttd1 A G 16: 32,721,031 (GRCm39) I110V probably damaging Het
G6pd2 A T 5: 61,966,753 (GRCm39) D176V probably damaging Het
Gm5114 A G 7: 39,060,826 (GRCm39) S8P probably benign Het
Hoxa1 T A 6: 52,133,878 (GRCm39) M283L probably damaging Het
Hspbp1 A T 7: 4,680,720 (GRCm39) L252H probably damaging Het
Itgb2l A T 16: 96,231,808 (GRCm39) D319E probably benign Het
Kdm6a A G X: 18,120,528 (GRCm39) T737A probably benign Het
Kmt2c A T 5: 25,610,430 (GRCm39) D225E possibly damaging Het
Lamb2 T A 9: 108,359,107 (GRCm39) Y274* probably null Het
Lratd2 A G 15: 60,695,302 (GRCm39) L148P probably damaging Het
Mamdc4 A G 2: 25,458,351 (GRCm39) L353P probably damaging Het
Mid2 T A X: 139,637,201 (GRCm39) H258Q probably damaging Het
Msh3 A C 13: 92,436,803 (GRCm39) N502K probably damaging Het
Nalcn T C 14: 123,560,770 (GRCm39) H769R probably benign Het
Nfx1 A G 4: 41,016,119 (GRCm39) I894V probably benign Het
Notch3 G A 17: 32,366,048 (GRCm39) Q1018* probably null Het
Oas1e A G 5: 120,929,846 (GRCm39) probably null Het
Or4f14d A T 2: 111,960,426 (GRCm39) H243Q probably damaging Het
Or7g34 A G 9: 19,478,245 (GRCm39) I145T probably benign Het
Plekha4 T A 7: 45,187,722 (GRCm39) F265I probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Slc9a3 T C 13: 74,313,978 (GRCm39) I762T probably benign Het
Spag1 C A 15: 36,190,658 (GRCm39) P158Q probably damaging Het
Spout1 G A 2: 30,067,938 (GRCm39) Q26* probably null Het
Sulf1 T C 1: 12,918,432 (GRCm39) Y50H probably damaging Het
Sytl5 C T X: 9,829,825 (GRCm39) probably benign Het
Tcof1 T C 18: 60,964,637 (GRCm39) E663G possibly damaging Het
Tmc3 A G 7: 83,265,148 (GRCm39) I681V probably benign Het
Ubqln3 A T 7: 103,790,506 (GRCm39) L528Q possibly damaging Het
Upf3a A C 8: 13,848,368 (GRCm39) Q388P probably damaging Het
Vrk1 T C 12: 106,009,144 (GRCm39) V70A probably benign Het
Other mutations in Tnfsf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02400:Tnfsf4 APN 1 161,223,276 (GRCm39) missense possibly damaging 0.92
IGL03028:Tnfsf4 APN 1 161,223,213 (GRCm39) missense possibly damaging 0.90
R1271:Tnfsf4 UTSW 1 161,223,274 (GRCm39) missense probably damaging 0.99
R3701:Tnfsf4 UTSW 1 161,244,778 (GRCm39) missense possibly damaging 0.48
R4506:Tnfsf4 UTSW 1 161,244,745 (GRCm39) missense probably damaging 0.98
R5276:Tnfsf4 UTSW 1 161,244,584 (GRCm39) missense possibly damaging 0.76
R5935:Tnfsf4 UTSW 1 161,244,819 (GRCm39) missense probably damaging 0.99
R6931:Tnfsf4 UTSW 1 161,244,644 (GRCm39) missense possibly damaging 0.81
R7091:Tnfsf4 UTSW 1 161,223,268 (GRCm39) missense probably benign 0.00
R7225:Tnfsf4 UTSW 1 161,244,821 (GRCm39) missense possibly damaging 0.94
R7646:Tnfsf4 UTSW 1 161,244,733 (GRCm39) missense possibly damaging 0.50
R7651:Tnfsf4 UTSW 1 161,244,593 (GRCm39) missense probably benign 0.35
R9093:Tnfsf4 UTSW 1 161,244,629 (GRCm39) missense probably damaging 1.00
R9258:Tnfsf4 UTSW 1 161,244,814 (GRCm39) missense probably benign 0.05
Posted On 2014-05-07