Incidental Mutation 'R7362:Tnfsf10'
ID 571399
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 045375-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7362 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 27371226-27393814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27389497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 186 (Y186F)
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: Y186F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040271
Gene: ENSMUSG00000039304
AA Change: Y186F

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TNF 146 290 5.35e-37 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000174840
AA Change: Y186F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133917
Gene: ENSMUSG00000039304
AA Change: Y186F

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:TNF 156 226 7.1e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 C T 8: 13,295,534 (GRCm39) R193K probably damaging Het
Aoc1 G T 6: 48,882,345 (GRCm39) V74L probably benign Het
Bfsp1 G C 2: 143,668,795 (GRCm39) P601A probably benign Het
Bicd1 A C 6: 149,385,591 (GRCm39) K108T probably benign Het
Btbd18 C T 2: 84,491,887 (GRCm39) Q23* probably null Het
Ccser1 A G 6: 61,787,864 (GRCm39) I227M unknown Het
Cd151 G A 7: 141,049,502 (GRCm39) V70I probably benign Het
Cdh10 A G 15: 18,899,780 (GRCm39) T36A probably benign Het
Crb2 A G 2: 37,680,211 (GRCm39) T380A probably benign Het
Csmd3 A C 15: 47,619,388 (GRCm39) S1829A possibly damaging Het
Dgat2 A T 7: 98,803,843 (GRCm39) H359Q probably damaging Het
Dhdds T C 4: 133,698,441 (GRCm39) T298A probably benign Het
Egfem1 A G 3: 29,206,069 (GRCm39) Q102R probably benign Het
Eps15 T A 4: 109,223,439 (GRCm39) probably null Het
Ern1 T A 11: 106,327,949 (GRCm39) D61V probably damaging Het
Fcamr G A 1: 130,741,760 (GRCm39) R511Q possibly damaging Het
Grhpr T C 4: 44,987,255 (GRCm39) V213A probably benign Het
Gsx2 A G 5: 75,236,765 (GRCm39) D115G possibly damaging Het
Hoxd3 A G 2: 74,574,563 (GRCm39) I70V possibly damaging Het
Inpp5a A G 7: 139,158,296 (GRCm39) I408V probably benign Het
Kansl3 A T 1: 36,383,208 (GRCm39) D759E possibly damaging Het
Lrrc37a T G 11: 103,348,335 (GRCm39) T2787P unknown Het
Mier3 G A 13: 111,841,783 (GRCm39) G115S possibly damaging Het
Mkln1 T C 6: 31,445,103 (GRCm39) I333T probably benign Het
Myt1 T A 2: 181,439,033 (GRCm39) V227D probably benign Het
Or1a1 T C 11: 74,086,412 (GRCm39) F28L probably benign Het
Or52s1 T A 7: 102,861,861 (GRCm39) Y265N probably damaging Het
Or7e171-ps1 C T 9: 19,853,527 (GRCm39) D70N probably damaging Het
Pcf11 A G 7: 92,302,453 (GRCm39) L1219P possibly damaging Het
Pde6g T C 11: 120,338,950 (GRCm39) E80G probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Ppp3cb T A 14: 20,573,719 (GRCm39) Q304L probably benign Het
Prr19 T C 7: 25,003,343 (GRCm39) L319P probably damaging Het
Prss23 C T 7: 89,158,972 (GRCm39) A366T probably damaging Het
Rock2 T C 12: 17,008,422 (GRCm39) L560P probably damaging Het
Simc1 A T 13: 54,687,517 (GRCm39) R95S probably damaging Het
Slc10a6 A T 5: 103,776,992 (GRCm39) V36E probably damaging Het
Slco1c1 A T 6: 141,515,189 (GRCm39) T695S probably benign Het
Spata31h1 T A 10: 82,128,831 (GRCm39) Q1393L possibly damaging Het
Ssh2 T C 11: 77,340,476 (GRCm39) F543L probably benign Het
Tecpr2 T A 12: 110,907,910 (GRCm39) V999D possibly damaging Het
Tnk2 A T 16: 32,494,338 (GRCm39) probably null Het
Tram1 T C 1: 13,659,832 (GRCm39) M39V probably benign Het
Uck2 C T 1: 167,065,211 (GRCm39) V36I possibly damaging Het
Ugcg T A 4: 59,217,109 (GRCm39) M211K probably damaging Het
Vash2 A T 1: 190,692,496 (GRCm39) S226R probably damaging Het
Vmn1r172 T A 7: 23,359,841 (GRCm39) M242K probably damaging Het
Vmn2r82 A T 10: 79,232,451 (GRCm39) M817L probably benign Het
Vwa5b1 T C 4: 138,321,623 (GRCm39) N390S probably damaging Het
Wdr73 T A 7: 80,550,451 (GRCm39) D17V probably damaging Het
Wdr91 A T 6: 34,866,050 (GRCm39) S501T possibly damaging Het
Zfp454 A G 11: 50,777,194 (GRCm39) probably null 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
R5799:Tnfsf10 UTSW 3 27,389,742 (GRCm39) missense probably damaging 1.00
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
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'- CATTGTGTGCAAGCCCAATG -3'
(R):5'- GACCAACAGCTGTTTCTGGC -3'

Sequencing Primer
(F):5'- GGTATCTCCTCATTCGATGTAAACG -3'
(R):5'- TTCTGGCGCTCTTCATGAG -3'
Posted On 2019-09-13