Incidental Mutation 'R5799:Tnfsf10'
ID 447388
Institutional Source Beutler Lab
Gene Symbol Tnfsf10
Ensembl Gene ENSMUSG00000039304
Gene Name tumor necrosis factor (ligand) superfamily, member 10
Synonyms APO-2L, A330042I21Rik, Trail
MMRRC Submission 043388-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5799 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 27371226-27393814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 27389742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 268 (V268F)
Ref Sequence ENSEMBL: ENSMUSP00000040271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046383] [ENSMUST00000174840]
AlphaFold P50592
Predicted Effect probably damaging
Transcript: ENSMUST00000046383
AA Change: V268F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040271
Gene: ENSMUSG00000039304
AA Change: V268F

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TNF 146 290 5.35e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174840
SMART Domains Protein: ENSMUSP00000133917
Gene: ENSMUSG00000039304

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:TNF 156 226 7.1e-17 PFAM
Meta Mutation Damage Score 0.9109 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 89% (51/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygotes for a null allele show thymus hyperplasia, abnormal negative T cell selection, increased susceptibility to autoimmune diseases and to tumor initiation and metastasis, and resistance to induced hepatitis. Homozygotes for another null allele are unable to control A20 lymphoma progression. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,668,908 (GRCm39) Q92* probably null Het
Accsl T C 2: 93,694,748 (GRCm39) probably null Het
Ahnak2 T C 12: 112,745,365 (GRCm39) probably benign Het
Alcam T C 16: 52,130,212 (GRCm39) D46G probably benign Het
Asap2 T C 12: 21,218,247 (GRCm39) S57P probably damaging Het
Atg14 A T 14: 47,784,752 (GRCm39) V314D possibly damaging Het
C230029F24Rik C T 1: 49,377,307 (GRCm39) noncoding transcript Het
Calcr A T 6: 3,707,592 (GRCm39) I236N probably benign Het
Cass4 G A 2: 172,258,107 (GRCm39) G35E probably damaging Het
Chmp6 T C 11: 119,807,517 (GRCm39) I120T probably benign Het
Col13a1 A G 10: 61,684,919 (GRCm39) probably benign Het
Cstdc4 T A 16: 36,004,631 (GRCm39) M1K probably null Het
Ddhd2 T A 8: 26,238,629 (GRCm39) L328F probably damaging Het
Defa40 T A 8: 21,740,359 (GRCm39) probably null Het
Dnmt3l A G 10: 77,887,860 (GRCm39) D123G possibly damaging Het
Eea1 T A 10: 95,838,810 (GRCm39) V287E possibly damaging Het
Efcc1 A G 6: 87,708,164 (GRCm39) N97S probably benign Het
Exd1 A G 2: 119,369,262 (GRCm39) S118P probably benign Het
Ext2 G T 2: 93,642,317 (GRCm39) T184K probably benign Het
Fam186a G A 15: 99,864,705 (GRCm39) Q42* probably null Het
Gbp2 A T 3: 142,337,843 (GRCm39) I320L probably benign Het
Gramd2a G A 9: 59,615,299 (GRCm39) G13R probably benign Het
H2-Q5 T C 17: 35,613,115 (GRCm39) M5T unknown Het
Jak3 C T 8: 72,131,344 (GRCm39) L70F probably damaging Het
Lhpp G A 7: 132,307,364 (GRCm39) V254M probably damaging Het
Lig1 T A 7: 13,030,184 (GRCm39) V387E possibly damaging Het
Lipo3 T C 19: 33,755,093 (GRCm39) probably benign Het
Lrrc8b C T 5: 105,629,208 (GRCm39) S518L probably benign Het
Narf T C 11: 121,135,480 (GRCm39) Y111H probably damaging Het
Ncf4 A G 15: 78,135,177 (GRCm39) K78R probably benign Het
Nrap A T 19: 56,330,601 (GRCm39) C1118* probably null Het
Nubp2 A G 17: 25,104,772 (GRCm39) V23A probably damaging Het
Or4l1 A T 14: 50,166,497 (GRCm39) F168Y probably damaging Het
Or6c219 A T 10: 129,781,780 (GRCm39) D50E possibly damaging Het
Or8g55 T C 9: 39,785,392 (GRCm39) S274P possibly damaging Het
Pdzd7 G A 19: 45,025,428 (GRCm39) P356S probably benign Het
Rttn T C 18: 89,056,070 (GRCm39) V984A probably damaging Het
Ryr3 A G 2: 112,516,925 (GRCm39) S3334P probably damaging Het
Senp7 G A 16: 55,959,468 (GRCm39) probably null Het
Slc25a3 A C 10: 90,957,903 (GRCm39) Y50D probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc38a2 A T 15: 96,592,970 (GRCm39) S163T probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stam2 A T 2: 52,610,922 (GRCm39) C4* probably null Het
Taf1a A G 1: 183,177,272 (GRCm39) D50G possibly damaging Het
Taf6l A T 19: 8,759,995 (GRCm39) Y106N possibly damaging Het
Taf7l2 T C 10: 115,948,674 (GRCm39) E284G probably damaging Het
Tbx20 G A 9: 24,636,816 (GRCm39) Q424* probably null Het
Tex10 A G 4: 48,433,295 (GRCm39) V829A possibly damaging Het
Tgfbr3 T C 5: 107,257,474 (GRCm39) probably benign Het
Trrap A G 5: 144,767,755 (GRCm39) T2571A probably benign Het
Other mutations in Tnfsf10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02155:Tnfsf10 APN 3 27,389,380 (GRCm39) missense possibly damaging 0.71
IGL03071:Tnfsf10 APN 3 27,389,769 (GRCm39) missense probably damaging 1.00
IGL03157:Tnfsf10 APN 3 27,380,106 (GRCm39) missense possibly damaging 0.77
IGL03226:Tnfsf10 APN 3 27,389,597 (GRCm39) nonsense probably null
R4051:Tnfsf10 UTSW 3 27,389,503 (GRCm39) missense probably damaging 1.00
R4679:Tnfsf10 UTSW 3 27,389,728 (GRCm39) missense probably damaging 0.99
R6101:Tnfsf10 UTSW 3 27,389,698 (GRCm39) missense probably damaging 1.00
R6105:Tnfsf10 UTSW 3 27,389,698 (GRCm39) missense probably damaging 1.00
R6882:Tnfsf10 UTSW 3 27,380,182 (GRCm39) missense possibly damaging 0.95
R7362:Tnfsf10 UTSW 3 27,389,497 (GRCm39) missense probably damaging 1.00
R7873:Tnfsf10 UTSW 3 27,389,808 (GRCm39) missense probably benign 0.05
R8819:Tnfsf10 UTSW 3 27,389,451 (GRCm39) missense probably benign 0.07
R9034:Tnfsf10 UTSW 3 27,389,379 (GRCm39) missense probably benign 0.00
R9035:Tnfsf10 UTSW 3 27,389,379 (GRCm39) missense probably benign 0.00
R9125:Tnfsf10 UTSW 3 27,380,028 (GRCm39) intron probably benign
R9193:Tnfsf10 UTSW 3 27,371,407 (GRCm39) missense possibly damaging 0.90
R9334:Tnfsf10 UTSW 3 27,389,496 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGAAGCTGAAGACGCTTC -3'
(R):5'- TGAGGTTTCTACAGCCAGGC -3'

Sequencing Primer
(F):5'- TGAAGACGCTTCCAAGATGGTCTC -3'
(R):5'- GAGGTTTCTACAGCCAGGCCATATC -3'
Posted On 2016-12-15