Incidental Mutation 'R7691:Tnfsf14'
ID 593421
Institutional Source Beutler Lab
Gene Symbol Tnfsf14
Ensembl Gene ENSMUSG00000005824
Gene Name tumor necrosis factor (ligand) superfamily, member 14
Synonyms LIGHT, HVEM-L
MMRRC Submission 045755-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R7691 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 57496492-57501177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57501024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 16 (T16S)
Ref Sequence ENSEMBL: ENSMUSP00000005976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005976]
AlphaFold Q9QYH9
Predicted Effect possibly damaging
Transcript: ENSMUST00000005976
AA Change: T16S

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000005976
Gene: ENSMUSG00000005824
AA Change: T16S

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
TNF 92 239 1.22e-49 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
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 member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF14, which is a member of the tumor necrosis factor receptor superfamily, and which is also known as a herpesvirus entry mediator (HVEM). This protein may function as a costimulatory factor for the activation of lymphoid cells and as a deterrent to infection by herpesvirus. This protein has been shown to stimulate the proliferation of T cells, and trigger apoptosis of various tumor cells. This protein is also reported to prevent tumor necrosis factor alpha mediated apoptosis in primary hepatocyte. Two alternatively spliced transcript variant encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of this gene leads to selective impairment of CD8+ T cell function. Mice homozygous for a knock-out allele exhibit defects in CD8+ T cell-mediated allogenic responses. Mice homozygous for a different knock-out allele show increased resistance to experimentally-induced hepatitis. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted(7)
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 A T 6: 92,773,219 (GRCm39) C1763S probably damaging Het
Adcy3 T C 12: 4,256,540 (GRCm39) V782A probably benign Het
Arhgef17 G A 7: 100,578,849 (GRCm39) R700C probably damaging Het
Atxn2l T C 7: 126,091,782 (GRCm39) probably null Het
Bach2 A G 4: 32,580,271 (GRCm39) E832G probably damaging Het
Brpf3 G C 17: 29,025,805 (GRCm39) A293P probably damaging Het
Cacfd1 T C 2: 26,900,106 (GRCm39) L36P probably damaging Het
Camsap2 T C 1: 136,220,742 (GRCm39) E268G probably damaging Het
Ccnjl A T 11: 43,474,028 (GRCm39) Q201L probably benign Het
Cdan1 A G 2: 120,560,048 (GRCm39) V372A probably damaging Het
Cenpf C A 1: 189,390,404 (GRCm39) E1143* probably null Het
Colgalt1 A T 8: 72,073,398 (GRCm39) M340L probably benign Het
Crybg3 A G 16: 59,376,497 (GRCm39) Y1586H not run Het
Csmd3 A G 15: 47,604,569 (GRCm39) I1058T Het
Dock1 G A 7: 134,739,886 (GRCm39) probably null Het
Dzank1 G A 2: 144,348,091 (GRCm39) T225I probably damaging Het
Eif3c G A 7: 126,151,162 (GRCm39) R721W possibly damaging Het
Fdps A G 3: 89,006,674 (GRCm39) V72A probably benign Het
Filip1l A G 16: 57,392,796 (GRCm39) N1128S probably benign Het
Fmnl2 T A 2: 52,991,510 (GRCm39) Y342N unknown Het
Gria1 A T 11: 57,127,813 (GRCm39) I410F possibly damaging Het
Gsdmc4 C A 15: 63,765,640 (GRCm39) S303I probably damaging Het
Herc2 C T 7: 55,841,593 (GRCm39) P3491S probably benign Het
Ift25 A G 4: 107,130,886 (GRCm39) I59V probably benign Het
Lama2 T C 10: 27,084,389 (GRCm39) H927R possibly damaging Het
Lrrc8e T C 8: 4,284,534 (GRCm39) M253T probably damaging Het
Ltn1 G T 16: 87,195,574 (GRCm39) H1317Q probably damaging Het
Map6 C T 7: 98,985,499 (GRCm39) L671F possibly damaging Het
Mki67 C T 7: 135,303,721 (GRCm39) V716I not run Het
Mllt10 G C 2: 18,208,423 (GRCm39) S694T probably null Het
Mllt10 A G 2: 18,208,422 (GRCm39) S694G possibly damaging Het
Mtcl1 A G 17: 66,687,352 (GRCm39) L518S probably damaging Het
Or2ad1 G A 13: 21,327,140 (GRCm39) A29V probably benign Het
Pcdh10 G T 3: 45,335,632 (GRCm39) D649Y probably damaging Het
Pdgfrb C T 18: 61,194,340 (GRCm39) T39M probably benign Het
Pls1 T C 9: 95,655,726 (GRCm39) E342G probably benign Het
Pon1 C T 6: 5,175,819 (GRCm39) V235I probably benign Het
Rhobtb3 A T 13: 76,027,056 (GRCm39) V439E probably damaging Het
Septin8 A G 11: 53,428,414 (GRCm39) T355A probably benign Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Ssc5d C T 7: 4,947,168 (GRCm39) T1174I probably benign Het
Sspo A T 6: 48,461,163 (GRCm39) T3535S probably benign Het
Stk39 A G 2: 68,301,983 (GRCm39) V80A probably damaging Het
Sult2b1 T C 7: 45,384,708 (GRCm39) I123V probably benign Het
Sv2a A T 3: 96,095,727 (GRCm39) I348F probably benign Het
Taar8b T A 10: 23,967,436 (GRCm39) R253* probably null Het
Tbc1d4 T C 14: 101,745,077 (GRCm39) K183R probably damaging Het
Tet2 T A 3: 133,192,610 (GRCm39) D608V probably damaging Het
Togaram2 A G 17: 72,023,405 (GRCm39) T774A probably benign Het
Tshr C A 12: 91,464,515 (GRCm39) A87E probably benign Het
Tsn T C 1: 118,237,505 (GRCm39) D53G probably benign Het
Usp37 TC T 1: 74,525,919 (GRCm39) probably null Het
Vav2 T A 2: 27,187,750 (GRCm39) probably null Het
Vmn2r52 T A 7: 9,893,109 (GRCm39) I677F probably damaging Het
Vmn2r65 T A 7: 84,592,851 (GRCm39) Y452F probably benign Het
Vmn2r79 A G 7: 86,687,111 (GRCm39) R831G probably damaging Het
Zfp821 T C 8: 110,447,871 (GRCm39) S71P probably damaging Het
Zwilch T A 9: 64,063,373 (GRCm39) I286F probably benign Het
Other mutations in Tnfsf14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00676:Tnfsf14 APN 17 57,499,562 (GRCm39) missense possibly damaging 0.89
IGL00962:Tnfsf14 APN 17 57,499,906 (GRCm39) nonsense probably null
IGL02515:Tnfsf14 APN 17 57,499,600 (GRCm39) missense probably benign
P0015:Tnfsf14 UTSW 17 57,497,815 (GRCm39) missense probably damaging 1.00
R1435:Tnfsf14 UTSW 17 57,497,605 (GRCm39) missense possibly damaging 0.60
R1566:Tnfsf14 UTSW 17 57,500,876 (GRCm39) missense probably benign
R1791:Tnfsf14 UTSW 17 57,497,867 (GRCm39) missense probably damaging 1.00
R1967:Tnfsf14 UTSW 17 57,497,807 (GRCm39) missense probably damaging 1.00
R2108:Tnfsf14 UTSW 17 57,497,867 (GRCm39) missense probably damaging 1.00
R2202:Tnfsf14 UTSW 17 57,497,638 (GRCm39) missense possibly damaging 0.67
R2203:Tnfsf14 UTSW 17 57,497,638 (GRCm39) missense possibly damaging 0.67
R2204:Tnfsf14 UTSW 17 57,497,638 (GRCm39) missense possibly damaging 0.67
R2205:Tnfsf14 UTSW 17 57,497,638 (GRCm39) missense possibly damaging 0.67
R2232:Tnfsf14 UTSW 17 57,500,876 (GRCm39) missense probably benign
R4790:Tnfsf14 UTSW 17 57,497,740 (GRCm39) missense probably damaging 1.00
R5434:Tnfsf14 UTSW 17 57,499,592 (GRCm39) missense probably benign 0.00
R7474:Tnfsf14 UTSW 17 57,497,848 (GRCm39) missense
R8499:Tnfsf14 UTSW 17 57,497,534 (GRCm39) missense
R9330:Tnfsf14 UTSW 17 57,501,020 (GRCm39) missense probably damaging 1.00
Z1177:Tnfsf14 UTSW 17 57,501,089 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TGGAGAAGACTCGCTGGTTC -3'
(R):5'- CCAGACTTCAGCTTTAAAGTGAGTC -3'

Sequencing Primer
(F):5'- AAGACTCGCTGGTTCCCCAAG -3'
(R):5'- CTTCAGCTTTAAAGTGAGTCCTAGG -3'
Posted On 2019-11-12