Incidental Mutation 'IGL00676:Tnfsf14'
ID 14523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfsf14
Ensembl Gene ENSMUSG00000005824
Gene Name tumor necrosis factor (ligand) superfamily, member 14
Synonyms LIGHT, HVEM-L
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL00676
Quality Score
Status
Chromosome 17
Chromosomal Location 57496492-57501177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57499562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 97 (T97A)
Ref Sequence ENSEMBL: ENSMUSP00000005976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005976]
AlphaFold Q9QYH9
Predicted Effect possibly damaging
Transcript: ENSMUST00000005976
AA Change: T97A

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000005976
Gene: ENSMUSG00000005824
AA Change: T97A

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
TNF 92 239 1.22e-49 SMART
Coding Region Coverage
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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bub1b A G 2: 118,460,619 (GRCm39) H650R probably benign Het
Gpcpd1 G A 2: 132,395,931 (GRCm39) S140F probably damaging Het
Isl1 T C 13: 116,439,589 (GRCm39) D253G probably benign Het
Mt4 A G 8: 94,863,904 (GRCm39) probably null Het
Naip2 T C 13: 100,289,140 (GRCm39) N1197D probably damaging Het
Nfu1 C A 6: 86,992,581 (GRCm39) P65Q probably damaging Het
Nup133 T G 8: 124,633,037 (GRCm39) probably benign Het
Slc4a10 G T 2: 62,120,345 (GRCm39) C824F probably damaging Het
Snapc1 A T 12: 74,018,687 (GRCm39) D39V probably damaging Het
Ythdc1 T A 5: 86,979,670 (GRCm39) V588D probably damaging Het
Zfp292 A C 4: 34,807,827 (GRCm39) I1739S probably damaging Het
Zfp882 A G 8: 72,667,671 (GRCm39) E166G probably benign Het
Other mutations in Tnfsf14
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06