Incidental Mutation 'R0005:Tnfsf9'
ID 63944
Institutional Source Beutler Lab
Gene Symbol Tnfsf9
Ensembl Gene ENSMUSG00000035678
Gene Name tumor necrosis factor (ligand) superfamily, member 9
Synonyms 4-1BB ligand, Cd137l, 4-1BBL, 4-1BB-L, Ly63l
MMRRC Submission 038301-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # R0005 (G1)
Quality Score 104
Status Validated
Chromosome 17
Chromosomal Location 57412325-57414757 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57414236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 221 (V221A)
Ref Sequence ENSEMBL: ENSMUSP00000040412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039490] [ENSMUST00000112915]
AlphaFold P41274
Predicted Effect possibly damaging
Transcript: ENSMUST00000039490
AA Change: V221A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040412
Gene: ENSMUSG00000035678
AA Change: V221A

DomainStartEndE-ValueType
transmembrane domain 83 105 N/A INTRINSIC
TNF 147 302 1.16e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112915
SMART Domains Protein: ENSMUSP00000108537
Gene: ENSMUSG00000079414

DomainStartEndE-ValueType
low complexity region 66 78 N/A INTRINSIC
Meta Mutation Damage Score 0.5533 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.3%
Validation Efficiency 98% (63/64)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit increased susceptibility to viral infection and defective memory T cell activation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn2l A G 7: 126,097,446 (GRCm39) F201L probably damaging Het
Camsap3 T A 8: 3,654,288 (GRCm39) F653I probably damaging Het
Cemip2 A G 19: 21,789,584 (GRCm39) T595A probably damaging Het
Col11a2 C T 17: 34,281,853 (GRCm39) probably benign Het
Col27a1 A G 4: 63,143,637 (GRCm39) T442A probably benign Het
Cpsf1 A G 15: 76,484,880 (GRCm39) probably null Het
Enpp4 T C 17: 44,413,066 (GRCm39) N156S probably benign Het
Fat3 T A 9: 15,874,162 (GRCm39) N3485I probably damaging Het
Gabra2 C T 5: 71,130,779 (GRCm39) V350I probably benign Het
H2-T5 G T 17: 36,473,084 (GRCm39) probably benign Het
Hivep2 A G 10: 14,004,493 (GRCm39) T364A probably damaging Het
Kif1b A T 4: 149,266,384 (GRCm39) V402E probably damaging Het
Lamc3 A G 2: 31,812,440 (GRCm39) D959G probably benign Het
Mag T A 7: 30,607,779 (GRCm39) probably benign Het
Map3k1 A G 13: 111,892,238 (GRCm39) F1006L probably benign Het
Mapre2 G A 18: 23,986,750 (GRCm39) G54D probably damaging Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Myadm C T 7: 3,346,080 (GRCm39) Q281* probably null Het
Mylk3 A T 8: 86,053,832 (GRCm39) V625D possibly damaging Het
Nlrp9a T C 7: 26,273,213 (GRCm39) probably benign Het
Or8d6 A G 9: 39,854,252 (GRCm39) D232G probably benign Het
Plcz1 T A 6: 139,986,290 (GRCm39) probably benign Het
Plekhg5 TCCCCC TCC 4: 152,197,108 (GRCm39) probably benign Het
Plekhh2 A C 17: 84,893,861 (GRCm39) D892A probably benign Het
Ppih A G 4: 119,175,798 (GRCm39) probably benign Het
Pramel13 G T 4: 144,122,423 (GRCm39) F40L probably damaging Het
Rtn4ip1 A T 10: 43,808,474 (GRCm39) M84L probably benign Het
Slc35f4 G A 14: 49,559,943 (GRCm39) probably benign Het
Spocd1 G T 4: 129,850,571 (GRCm39) D866Y possibly damaging Het
Stxbp4 C T 11: 90,439,743 (GRCm39) R365Q possibly damaging Het
Tmed4 C T 11: 6,221,781 (GRCm39) R185H probably damaging Het
Trappc14 T C 5: 138,260,916 (GRCm39) probably null Het
Vsx2 C A 12: 84,617,015 (GRCm39) P100Q possibly damaging Het
Wdr48 T A 9: 119,738,500 (GRCm39) D53E probably benign Het
Zfp335 T A 2: 164,751,222 (GRCm39) S115C possibly damaging Het
Zfp608 G A 18: 55,028,592 (GRCm39) P1274S possibly damaging Het
Other mutations in Tnfsf9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01825:Tnfsf9 APN 17 57,414,335 (GRCm39) missense possibly damaging 0.77
PIT4445001:Tnfsf9 UTSW 17 57,412,517 (GRCm39) missense possibly damaging 0.96
R1823:Tnfsf9 UTSW 17 57,412,738 (GRCm39) missense probably benign 0.03
R1824:Tnfsf9 UTSW 17 57,412,738 (GRCm39) missense probably benign 0.03
R2122:Tnfsf9 UTSW 17 57,414,316 (GRCm39) splice site probably null
R4880:Tnfsf9 UTSW 17 57,412,433 (GRCm39) start codon destroyed probably null 0.02
R4982:Tnfsf9 UTSW 17 57,414,504 (GRCm39) makesense probably null
R5057:Tnfsf9 UTSW 17 57,412,444 (GRCm39) missense probably benign
R5166:Tnfsf9 UTSW 17 57,413,263 (GRCm39) missense possibly damaging 0.85
R5395:Tnfsf9 UTSW 17 57,412,592 (GRCm39) missense probably benign 0.44
R6823:Tnfsf9 UTSW 17 57,412,513 (GRCm39) missense probably benign 0.00
R7023:Tnfsf9 UTSW 17 57,414,317 (GRCm39) missense possibly damaging 0.71
R7514:Tnfsf9 UTSW 17 57,414,238 (GRCm39) missense probably damaging 0.97
R8371:Tnfsf9 UTSW 17 57,412,541 (GRCm39) missense probably benign 0.44
R9758:Tnfsf9 UTSW 17 57,414,355 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCTGAACTGGCACAGCCAAGATG -3'
(R):5'- CCAAAGCTGGTGGTGTTGGGATAAG -3'

Sequencing Primer
(F):5'- CAGCCAAGATGGAGCTGG -3'
(R):5'- CTGGGCTCCATGCAGATAAG -3'
Posted On 2013-07-30