Incidental Mutation 'R2203:Tnfsf14'
ID 238870
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 040205-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R2203 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 57496492-57501177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57497638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 198 (D198G)
Ref Sequence ENSEMBL: ENSMUSP00000005976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005976]
AlphaFold Q9QYH9
Predicted Effect possibly damaging
Transcript: ENSMUST00000005976
AA Change: D198G

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000005976
Gene: ENSMUSG00000005824
AA Change: D198G

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
TNF 92 239 1.22e-49 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G A 4: 53,090,291 (GRCm39) T386I probably damaging Het
Abcc5 C G 16: 20,224,632 (GRCm39) L44F possibly damaging Het
Abi3bp T G 16: 56,433,566 (GRCm39) L550R probably benign Het
Brca2 T A 5: 150,462,967 (GRCm39) D910E possibly damaging Het
Cacna1h C T 17: 25,599,234 (GRCm39) A1742T probably damaging Het
Cartpt A T 13: 100,037,133 (GRCm39) S4T probably benign Het
Ccdc66 T A 14: 27,208,790 (GRCm39) D488V probably benign Het
Cdan1 C A 2: 120,551,241 (GRCm39) C1093F probably damaging Het
Cfap45 T C 1: 172,359,728 (GRCm39) V76A probably benign Het
Clptm1 G T 7: 19,367,817 (GRCm39) F598L possibly damaging Het
Cntrl G A 2: 35,033,749 (GRCm39) V257I possibly damaging Het
Cpa1 A G 6: 30,641,818 (GRCm39) D214G probably damaging Het
Crebbp A C 16: 3,956,641 (GRCm39) M394R possibly damaging Het
Ctnnd1 A G 2: 84,447,024 (GRCm39) L407P probably damaging Het
Cttnbp2 T G 6: 18,408,693 (GRCm39) D976A probably benign Het
Dicer1 C T 12: 104,697,297 (GRCm39) V87M possibly damaging Het
Elapor1 C T 3: 108,382,359 (GRCm39) G270E probably damaging Het
Fam184a T A 10: 53,528,530 (GRCm39) Q29L probably damaging Het
Flnc C T 6: 29,459,507 (GRCm39) P2536S probably damaging Het
Gapdh A T 6: 125,139,569 (GRCm39) S165T probably benign Het
Gm6370 T A 5: 146,430,539 (GRCm39) D241E probably benign Het
Grik4 T A 9: 42,458,951 (GRCm39) S596C probably damaging Het
Gtf2e1 T A 16: 37,331,904 (GRCm39) E390D possibly damaging Het
Hmgcr A G 13: 96,793,141 (GRCm39) L497P probably damaging Het
Hmgcs2 T A 3: 98,198,499 (GRCm39) I134N probably damaging Het
Htr5b T C 1: 121,455,693 (GRCm39) T76A probably damaging Het
Iars1 A G 13: 49,876,151 (GRCm39) E812G probably benign Het
Ints8 A T 4: 11,225,712 (GRCm39) M615K possibly damaging Het
Jmjd1c A G 10: 67,075,242 (GRCm39) probably null Het
Kcnj5 T C 9: 32,234,196 (GRCm39) T40A probably benign Het
Knstrn T A 2: 118,661,456 (GRCm39) probably null Het
Map2k2 T C 10: 80,955,213 (GRCm39) S14P probably damaging Het
Med26 T C 8: 73,249,746 (GRCm39) E451G probably damaging Het
Nbeal1 T A 1: 60,323,165 (GRCm39) M2081K probably benign Het
Nectin4 G A 1: 171,213,797 (GRCm39) V433M possibly damaging Het
Nop56 T A 2: 130,119,488 (GRCm39) I51N probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Nudt5 A T 2: 5,860,794 (GRCm39) I22F possibly damaging Het
Or4p23 C G 2: 88,576,953 (GRCm39) G93A probably benign Het
Pbrm1 A G 14: 30,754,406 (GRCm39) D142G possibly damaging Het
Pdcl A T 2: 37,242,056 (GRCm39) N231K probably benign Het
Pkd1 G T 17: 24,799,863 (GRCm39) A591S probably benign Het
Plcb4 T C 2: 135,844,514 (GRCm39) I144T probably benign Het
Prrc2b C A 2: 32,113,476 (GRCm39) Q1970K probably damaging Het
Rabep1 A C 11: 70,825,400 (GRCm39) E689A probably damaging Het
Ralgapa1 T C 12: 55,659,585 (GRCm39) probably null Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Saxo1 A C 4: 86,363,998 (GRCm39) Y162D probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sipa1l2 A T 8: 126,218,366 (GRCm39) W324R probably damaging Het
Slc19a1 T C 10: 76,877,758 (GRCm39) C98R possibly damaging Het
Slc26a8 G T 17: 28,866,981 (GRCm39) L583I probably benign Het
Spata31d1d A G 13: 59,879,435 (GRCm39) C34R possibly damaging Het
Stoml2 G T 4: 43,030,243 (GRCm39) Y119* probably null Het
Susd1 A G 4: 59,349,843 (GRCm39) L531P possibly damaging Het
Ttc39a A G 4: 109,288,785 (GRCm39) N293S probably benign Het
Ttn T C 2: 76,601,985 (GRCm39) N18559S possibly damaging Het
Vmn2r104 A T 17: 20,250,083 (GRCm39) N729K probably benign Het
Zbtb47 A G 9: 121,591,703 (GRCm39) T8A possibly damaging Het
Zfp712 T A 13: 67,190,048 (GRCm39) T160S 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
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
R7691:Tnfsf14 UTSW 17 57,501,024 (GRCm39) missense possibly damaging 0.92
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'- AGAGTTCAGGGCTCCTTAAAGG -3'
(R):5'- TGTACTCCAAAGTGCAGCTGAG -3'

Sequencing Primer
(F):5'- GAGGACTTCAAACCCTATTGCTGG -3'
(R):5'- GGAGTTAGAACTGCTGGT -3'
Posted On 2014-10-02