Incidental Mutation 'R2232:Tnfsf14'
ID 240140
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 040233-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R2232 (G1)
Quality Score 152
Status Not validated
Chromosome 17
Chromosomal Location 57496492-57501177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57500876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 65 (D65G)
Ref Sequence ENSEMBL: ENSMUSP00000005976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005976]
AlphaFold Q9QYH9
Predicted Effect probably benign
Transcript: ENSMUST00000005976
AA Change: D65G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000005976
Gene: ENSMUSG00000005824
AA Change: D65G

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
TNF 92 239 1.22e-49 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a A C 5: 121,657,795 (GRCm39) D499E possibly damaging Het
Adamtsl2 G A 2: 26,993,190 (GRCm39) G740E probably damaging Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Akap9 G A 5: 4,096,603 (GRCm39) V2493I probably damaging Het
Ankra2 T C 13: 98,407,646 (GRCm39) F199L probably damaging Het
Ankrd63 A G 2: 118,533,846 (GRCm39) probably benign Het
Asns A G 6: 7,689,316 (GRCm39) I62T possibly damaging Het
Celf3 T A 3: 94,387,566 (GRCm39) probably null Het
Cyp4f37 A G 17: 32,853,244 (GRCm39) T403A probably benign Het
Dennd2b T C 7: 109,156,414 (GRCm39) D112G probably benign Het
Dgkd T A 1: 87,857,464 (GRCm39) S725R probably benign Het
Dnah5 G A 15: 28,408,563 (GRCm39) probably null Het
Entrep2 G A 7: 64,408,970 (GRCm39) H475Y probably damaging Het
Ergic3 A G 2: 155,859,736 (GRCm39) T346A probably damaging Het
Fam227a T A 15: 79,499,582 (GRCm39) Y591F possibly damaging Het
Gal3st1 T C 11: 3,948,282 (GRCm39) I163T probably benign Het
Ghrhr T C 6: 55,362,444 (GRCm39) F347S probably damaging Het
Htr2a A T 14: 74,882,469 (GRCm39) I152F probably damaging Het
Il17re T C 6: 113,441,761 (GRCm39) C219R probably damaging Het
Kansl2 A G 15: 98,422,359 (GRCm39) L403S probably damaging Het
Kif21a G A 15: 90,869,565 (GRCm39) Q429* probably null Het
L1cam T A X: 72,904,947 (GRCm39) N503I possibly damaging Het
Lrrk2 A G 15: 91,648,919 (GRCm39) K1638E probably benign Het
Mcpt9 A T 14: 56,265,445 (GRCm39) C85S probably benign Het
Mindy3 C A 2: 12,408,856 (GRCm39) R73M probably benign Het
Mrgprb3 T C 7: 48,292,770 (GRCm39) I260M probably benign Het
Nes T A 3: 87,886,238 (GRCm39) I1499N possibly damaging Het
Ninl A G 2: 150,791,970 (GRCm39) V851A probably benign Het
Oaz3 T C 3: 94,341,846 (GRCm39) T130A probably benign Het
Or10j7 A G 1: 173,011,182 (GRCm39) I273T probably benign Het
Or4c3d A T 2: 89,882,569 (GRCm39) F33Y probably benign Het
Pacs2 G A 12: 113,026,987 (GRCm39) D605N probably damaging Het
Pcare A G 17: 72,056,279 (GRCm39) S1133P probably benign Het
Pdk3 G T X: 92,857,604 (GRCm39) N59K probably damaging Het
Pigq T C 17: 26,151,183 (GRCm39) H322R probably benign Het
Ppp3r1 G A 11: 17,143,115 (GRCm39) G68R probably damaging Het
Proz A G 8: 13,113,356 (GRCm39) Y59C probably damaging Het
Prpf39 C T 12: 65,090,786 (GRCm39) R32* probably null Het
Prr5 T C 15: 84,586,981 (GRCm39) S244P probably benign Het
Pth2r G T 1: 65,375,928 (GRCm39) W62L probably damaging Het
Scin T A 12: 40,118,930 (GRCm39) K622I probably damaging Het
Serpinb6a T C 13: 34,109,303 (GRCm39) K143R probably damaging Het
Ska1 G T 18: 74,330,137 (GRCm39) probably null Het
Slc30a8 G T 15: 52,169,960 (GRCm39) R62S probably benign Het
Slc8a3 A C 12: 81,361,994 (GRCm39) I275S probably damaging Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spmap2l A G 5: 77,207,252 (GRCm39) I337V possibly damaging Het
Sspo A G 6: 48,425,606 (GRCm39) I76V probably damaging Het
Sult1c2 G T 17: 54,138,848 (GRCm39) T243K probably benign Het
Svil T A 18: 5,046,640 (GRCm39) M1K probably null Het
Tet3 T C 6: 83,346,453 (GRCm39) D1328G probably damaging Het
Trmt9b T A 8: 36,979,707 (GRCm39) C437S probably damaging Het
Ttc3 T C 16: 94,260,831 (GRCm39) S1439P probably benign Het
Ttn A T 2: 76,774,497 (GRCm39) F2136L probably damaging Het
Usb1 T G 8: 96,070,674 (GRCm39) L200R probably damaging Het
Usp20 A G 2: 30,908,750 (GRCm39) N777S probably benign Het
Zfp92 G T X: 72,466,358 (GRCm39) L450F possibly damaging 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
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'- TGGGCTGGAAACAACAACC -3'
(R):5'- AGTGTGGTACAGCCTTCAGTG -3'

Sequencing Primer
(F):5'- TAGGTGAATCCCAAGGAAACTGCC -3'
(R):5'- ACAGCCTTCAGTGTTTGTGG -3'
Posted On 2014-10-15