Incidental Mutation 'R4051:Tnfsf10'
ID |
314148 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnfsf10
|
Ensembl Gene |
ENSMUSG00000039304 |
Gene Name |
tumor necrosis factor (ligand) superfamily, member 10 |
Synonyms |
APO-2L, A330042I21Rik, Trail |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4051 ()
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
27371226-27393814 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 27389503 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 188
(I188N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133917
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046383]
[ENSMUST00000174840]
|
AlphaFold |
P50592 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046383
AA Change: I188N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040271 Gene: ENSMUSG00000039304 AA Change: I188N
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
TNF
|
146 |
290 |
5.35e-37 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174840
AA Change: I188N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133917 Gene: ENSMUSG00000039304 AA Change: I188N
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
Pfam:TNF
|
156 |
226 |
7.1e-17 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
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 cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] PHENOTYPE: Homozygotes for a null allele show thymus hyperplasia, abnormal negative T cell selection, increased susceptibility to autoimmune diseases and to tumor initiation and metastasis, and resistance to induced hepatitis. Homozygotes for another null allele are unable to control A20 lymphoma progression. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
C |
7: 45,635,987 (GRCm39) |
L1020R |
probably damaging |
Het |
Ahnak |
A |
C |
19: 8,991,691 (GRCm39) |
D4325A |
probably damaging |
Het |
Chtf18 |
A |
G |
17: 25,938,168 (GRCm39) |
V955A |
probably damaging |
Het |
Dclk2 |
A |
G |
3: 86,738,129 (GRCm39) |
|
probably null |
Het |
Disc1 |
A |
G |
8: 125,875,164 (GRCm39) |
T547A |
possibly damaging |
Het |
Eif4b |
A |
G |
15: 101,995,039 (GRCm39) |
Y211C |
probably benign |
Het |
Fli1 |
T |
G |
9: 32,363,458 (GRCm39) |
D176A |
probably benign |
Het |
Hcn2 |
A |
C |
10: 79,569,521 (GRCm39) |
|
probably null |
Het |
Ice1 |
A |
G |
13: 70,751,646 (GRCm39) |
V1480A |
probably damaging |
Het |
Ier5l |
A |
C |
2: 30,363,324 (GRCm39) |
S234A |
probably benign |
Het |
Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
Itga11 |
C |
T |
9: 62,662,933 (GRCm39) |
Q550* |
probably null |
Het |
Kdr |
T |
A |
5: 76,129,068 (GRCm39) |
M193L |
probably benign |
Het |
Kif3b |
G |
A |
2: 153,165,477 (GRCm39) |
R628Q |
probably damaging |
Het |
Ldlrad3 |
C |
T |
2: 101,783,507 (GRCm39) |
D240N |
probably damaging |
Het |
Met |
T |
C |
6: 17,548,728 (GRCm39) |
V924A |
possibly damaging |
Het |
Or52m1 |
T |
C |
7: 102,290,233 (GRCm39) |
V260A |
possibly damaging |
Het |
Peg10 |
T |
C |
6: 4,754,534 (GRCm39) |
L105P |
probably benign |
Het |
Phtf1 |
A |
G |
3: 103,912,824 (GRCm39) |
T717A |
possibly damaging |
Het |
Ptafr |
T |
C |
4: 132,307,305 (GRCm39) |
W232R |
probably benign |
Het |
Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
Slamf7 |
T |
C |
1: 171,464,951 (GRCm39) |
K261E |
possibly damaging |
Het |
Slc9c1 |
T |
A |
16: 45,363,593 (GRCm39) |
Y120N |
probably damaging |
Het |
Sstr2 |
A |
C |
11: 113,515,482 (GRCm39) |
T134P |
probably damaging |
Het |
Steap4 |
A |
G |
5: 8,030,404 (GRCm39) |
Y420C |
probably damaging |
Het |
Tbc1d9b |
T |
C |
11: 50,062,070 (GRCm39) |
C1210R |
probably benign |
Het |
Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
Usp46 |
T |
C |
5: 74,163,416 (GRCm39) |
N283S |
probably benign |
Het |
Vmn2r84 |
T |
G |
10: 130,226,767 (GRCm39) |
N357T |
probably damaging |
Het |
Zfp217 |
T |
C |
2: 169,954,536 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Tnfsf10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02155:Tnfsf10
|
APN |
3 |
27,389,380 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL03071:Tnfsf10
|
APN |
3 |
27,389,769 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03157:Tnfsf10
|
APN |
3 |
27,380,106 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL03226:Tnfsf10
|
APN |
3 |
27,389,597 (GRCm39) |
nonsense |
probably null |
|
R4679:Tnfsf10
|
UTSW |
3 |
27,389,728 (GRCm39) |
missense |
probably damaging |
0.99 |
R5799:Tnfsf10
|
UTSW |
3 |
27,389,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R6101:Tnfsf10
|
UTSW |
3 |
27,389,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R6105:Tnfsf10
|
UTSW |
3 |
27,389,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R6882:Tnfsf10
|
UTSW |
3 |
27,380,182 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7362:Tnfsf10
|
UTSW |
3 |
27,389,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R7873:Tnfsf10
|
UTSW |
3 |
27,389,808 (GRCm39) |
missense |
probably benign |
0.05 |
R8819:Tnfsf10
|
UTSW |
3 |
27,389,451 (GRCm39) |
missense |
probably benign |
0.07 |
R9034:Tnfsf10
|
UTSW |
3 |
27,389,379 (GRCm39) |
missense |
probably benign |
0.00 |
R9035:Tnfsf10
|
UTSW |
3 |
27,389,379 (GRCm39) |
missense |
probably benign |
0.00 |
R9125:Tnfsf10
|
UTSW |
3 |
27,380,028 (GRCm39) |
intron |
probably benign |
|
R9193:Tnfsf10
|
UTSW |
3 |
27,371,407 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9334:Tnfsf10
|
UTSW |
3 |
27,389,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAAGCCCAATGAAAATACTG -3'
(R):5'- ATCTCTGGACCAACAGCTGTTTC -3'
Sequencing Primer
(F):5'- GGTATCTCCTCATTCGATGTAAACG -3'
(R):5'- ACCAACAGCTGTTTCTGGCG -3'
|
Posted On |
2015-04-30 |