Incidental Mutation 'IGL02155:Tnfsf10'
ID282195
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfsf10
Ensembl Gene ENSMUSG00000039304
Gene Nametumor necrosis factor (ligand) superfamily, member 10
SynonymsA330042I21Rik, Trail, APO-2L
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02155
Quality Score
Status
Chromosome3
Chromosomal Location27317028-27342427 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 27335231 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 147 (D147V)
Ref Sequence ENSEMBL: ENSMUSP00000133917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046383] [ENSMUST00000174840]
Predicted Effect probably benign
Transcript: ENSMUST00000046383
AA Change: D147V

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000040271
Gene: ENSMUSG00000039304
AA Change: D147V

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TNF 146 290 5.35e-37 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000174840
AA Change: D147V

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133917
Gene: ENSMUSG00000039304
AA Change: D147V

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:TNF 156 226 7.1e-17 PFAM
Coding Region Coverage
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs A G 5: 125,506,286 H302R probably null Het
Abi3bp A T 16: 56,587,964 H254L probably damaging Het
Adcy3 G A 12: 4,212,142 W1064* probably null Het
Arvcf C T 16: 18,403,900 P70S probably damaging Het
Ceacam3 A G 7: 17,162,981 D624G possibly damaging Het
Cntrl T A 2: 35,160,238 probably benign Het
Cyp2a5 T A 7: 26,843,046 F491Y probably benign Het
Disp2 C T 2: 118,791,804 R1006C probably damaging Het
Dnajc22 T C 15: 99,101,005 Y24H probably damaging Het
Fat2 A G 11: 55,262,419 F3656L probably benign Het
Fbxo31 A G 8: 121,559,075 F212S probably damaging Het
Fsip2 T C 2: 82,998,352 M6831T probably benign Het
Gpi1 G T 7: 34,230,189 Q9K possibly damaging Het
Hmcn1 T A 1: 150,563,598 S5495C probably damaging Het
Ift74 A G 4: 94,679,251 I394V probably benign Het
Kcnh5 G A 12: 75,176,538 probably benign Het
Lars2 A G 9: 123,454,982 D745G probably damaging Het
Mitd1 T A 1: 37,885,275 I65F probably benign Het
Mlxip T C 5: 123,453,392 M878T probably benign Het
Mrgpra4 T C 7: 47,981,544 Y103C probably damaging Het
Notch2 T C 3: 98,138,490 I1657T probably damaging Het
Olfr1028 T A 2: 85,952,008 M315K probably benign Het
Orc1 T A 4: 108,590,677 D40E probably benign Het
Rnf40 T C 7: 127,590,716 probably benign Het
Sema4d A G 13: 51,703,267 V643A probably benign Het
Taf7 A T 18: 37,643,511 M1K probably null Het
Trove2 C T 1: 143,761,269 probably null Het
Usp45 T A 4: 21,798,743 probably null Het
Wdr62 T C 7: 30,262,643 D2G probably damaging Het
Zp2 T A 7: 120,144,117 I50F probably benign Het
Other mutations in Tnfsf10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03071:Tnfsf10 APN 3 27335620 missense probably damaging 1.00
IGL03157:Tnfsf10 APN 3 27325957 missense possibly damaging 0.77
IGL03226:Tnfsf10 APN 3 27335448 nonsense probably null
R4051:Tnfsf10 UTSW 3 27335354 missense probably damaging 1.00
R4679:Tnfsf10 UTSW 3 27335579 missense probably damaging 0.99
R5799:Tnfsf10 UTSW 3 27335593 missense probably damaging 1.00
R6101:Tnfsf10 UTSW 3 27335549 missense probably damaging 1.00
R6105:Tnfsf10 UTSW 3 27335549 missense probably damaging 1.00
R6882:Tnfsf10 UTSW 3 27326033 missense possibly damaging 0.95
R7362:Tnfsf10 UTSW 3 27335348 missense probably damaging 1.00
R7873:Tnfsf10 UTSW 3 27335659 missense probably benign 0.05
R7956:Tnfsf10 UTSW 3 27335659 missense probably benign 0.05
Posted On2015-04-16