Incidental Mutation 'R4506:Tnfsf4'
ID 332000
Institutional Source Beutler Lab
Gene Symbol Tnfsf4
Ensembl Gene ENSMUSG00000026700
Gene Name tumor necrosis factor (ligand) superfamily, member 4
Synonyms Ath-1, CD134L, OX40L, Txgp1l, Ath1, TXGP1, gp34
MMRRC Submission 041584-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R4506 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 161395409-161418410 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 161417174 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 145 (S145P)
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: S145P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028024
Gene: ENSMUSG00000026700
AA Change: S145P

TNF 59 187 2.03e-37 SMART
Meta Mutation Damage Score 0.2391 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (42/43)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,794,261 P137T probably damaging Het
Abcc5 A T 16: 20,333,695 I1367N probably damaging Het
Ace T A 11: 105,976,666 L152Q probably damaging Het
Adam19 G A 11: 46,118,444 D232N possibly damaging Het
Anapc4 A T 5: 52,835,730 N61I possibly damaging Het
Ap5m1 T C 14: 49,073,761 V96A probably damaging Het
Atr T A 9: 95,865,237 C191S probably benign Het
Carmil3 GGACGA GGA 14: 55,499,476 probably benign Het
Cnot6l A T 5: 96,086,174 V326E possibly damaging Het
Fcer2a A T 8: 3,688,603 probably null Het
Fgfr3 A G 5: 33,729,999 T221A probably damaging Het
Gm6632 C T 5: 59,054,478 noncoding transcript Het
Gm8909 A T 17: 36,161,480 probably benign Het
Gpr158 T A 2: 21,826,999 M970K probably damaging Het
Ip6k3 A T 17: 27,145,180 L298Q possibly damaging Het
Itpr1 A G 6: 108,432,686 D1727G probably damaging Het
Kdm2b T C 5: 122,888,625 T589A possibly damaging Het
Krtcap2 A G 3: 89,246,256 probably benign Het
Map3k13 A G 16: 21,922,178 S752G probably benign Het
Mvb12a G T 8: 71,543,459 A86S probably benign Het
Nktr T A 9: 121,748,883 probably benign Het
Olfr160 C T 9: 37,711,464 V272I probably benign Het
Olfr393 A T 11: 73,847,695 C143* probably null Het
Parp4 T A 14: 56,652,304 N1847K unknown Het
Pcdhga8 G C 18: 37,816,763 V411L probably damaging Het
Piwil4 T C 9: 14,725,963 T352A probably damaging Het
Ric8a A G 7: 140,858,516 I223V probably benign Het
Slc25a51 C T 4: 45,399,768 V141M probably benign Het
Slc7a5 A T 8: 121,887,495 probably null Het
Slc7a9 A T 7: 35,453,420 T88S probably damaging Het
Tbrg1 T A 9: 37,654,395 E87V probably damaging Het
Tomm34 C A 2: 164,054,372 probably null Het
Trpv3 A G 11: 73,295,324 N647S probably benign Het
Upf1 G A 8: 70,337,566 R637C probably damaging Het
Vmn2r23 A T 6: 123,702,925 Q35H probably damaging Het
Wdtc1 C T 4: 133,308,819 V137M probably damaging Het
Zfp276 G A 8: 123,264,927 probably null Het
Zfp90 C T 8: 106,424,864 P403L possibly damaging Het
Other mutations in Tnfsf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02072:Tnfsf4 APN 1 161417289 missense probably damaging 1.00
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
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
R9093:Tnfsf4 UTSW 1 161417058 missense probably damaging 1.00
R9258:Tnfsf4 UTSW 1 161417243 missense probably benign 0.05
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-07-21