Incidental Mutation 'IGL02515:Tnfsf14'
| ID |
296720 |
| 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)
|
| Stock # |
IGL02515
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
57496492-57501177 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57499600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 84
(D84G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005976]
|
| AlphaFold |
Q9QYH9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005976
AA Change: D84G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000005976
Gene: ENSMUSG00000005824
AA Change: D84G
| Domain | Start | End | E-Value | Type |
|---|
|
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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,153,229 (GRCm39) |
D879G |
probably benign |
Het |
| Atp6v0d2 |
A |
T |
4: 19,880,063 (GRCm39) |
F278Y |
possibly damaging |
Het |
| Cip2a |
A |
G |
16: 48,826,096 (GRCm39) |
T388A |
possibly damaging |
Het |
| Dapk3 |
T |
C |
10: 81,025,763 (GRCm39) |
|
probably benign |
Het |
| Dpysl4 |
A |
T |
7: 138,676,651 (GRCm39) |
D367V |
probably damaging |
Het |
| E330034G19Rik |
T |
A |
14: 24,348,052 (GRCm39) |
D101E |
possibly damaging |
Het |
| Epb41l1 |
G |
A |
2: 156,378,933 (GRCm39) |
E811K |
probably damaging |
Het |
| Fsd1 |
T |
A |
17: 56,303,303 (GRCm39) |
V424E |
probably null |
Het |
| Ggt5 |
G |
A |
10: 75,425,604 (GRCm39) |
V21I |
probably benign |
Het |
| Gm5239 |
A |
G |
18: 35,669,787 (GRCm39) |
E51G |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,826,041 (GRCm39) |
S753G |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,174,302 (GRCm39) |
Y648F |
probably damaging |
Het |
| Hmgcr |
T |
C |
13: 96,803,020 (GRCm39) |
|
probably benign |
Het |
| Insc |
A |
G |
7: 114,368,243 (GRCm39) |
D11G |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,790,876 (GRCm39) |
D88G |
probably damaging |
Het |
| Mtmr10 |
C |
T |
7: 63,987,259 (GRCm39) |
R600W |
probably damaging |
Het |
| Nlrc3 |
C |
A |
16: 3,767,323 (GRCm39) |
|
probably benign |
Het |
| Or5b116 |
T |
A |
19: 13,422,472 (GRCm39) |
I32N |
probably damaging |
Het |
| Or8g51 |
T |
C |
9: 38,609,087 (GRCm39) |
T196A |
probably benign |
Het |
| Pdcd11 |
A |
T |
19: 47,113,516 (GRCm39) |
D1323V |
probably damaging |
Het |
| Rgl3 |
T |
C |
9: 21,885,396 (GRCm39) |
R645G |
possibly damaging |
Het |
| Rnf2 |
A |
T |
1: 151,347,446 (GRCm39) |
D137E |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,747,952 (GRCm39) |
H430R |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,653,261 (GRCm39) |
V1534A |
possibly damaging |
Het |
| Stip1 |
T |
C |
19: 6,999,487 (GRCm39) |
T432A |
probably benign |
Het |
| Ube2o |
A |
G |
11: 116,434,525 (GRCm39) |
V601A |
probably damaging |
Het |
| Vmn1r215 |
T |
C |
13: 23,259,990 (GRCm39) |
I10T |
probably benign |
Het |
| Vtn |
A |
T |
11: 78,392,480 (GRCm39) |
I353F |
probably damaging |
Het |
|
| Other mutations in Tnfsf14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
2015-04-16 |
Incidental Mutation