Incidental Mutation 'IGL03226:Tnfsf10'
| ID |
414853 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03226
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
27371226-27393814 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 27389597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 219
(Y219*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046383]
[ENSMUST00000174840]
|
| AlphaFold |
P50592 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046383
AA Change: Y219*
|
| SMART Domains |
Protein: ENSMUSP00000040271
Gene: ENSMUSG00000039304
AA Change: Y219*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
TNF
|
146 |
290 |
5.35e-37 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174840
|
| SMART Domains |
Protein: ENSMUSP00000133917
Gene: ENSMUSG00000039304
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:TNF
|
156 |
226 |
7.1e-17 |
PFAM |
|
| 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 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
A |
G |
14: 70,395,058 (GRCm39) |
V32A |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,225,679 (GRCm39) |
T944A |
probably benign |
Het |
| Bcat2 |
T |
A |
7: 45,237,778 (GRCm39) |
V348E |
probably damaging |
Het |
| Bnip2 |
A |
G |
9: 69,903,456 (GRCm39) |
D36G |
probably benign |
Het |
| C2cd5 |
T |
A |
6: 143,018,292 (GRCm39) |
D310V |
possibly damaging |
Het |
| Cltc |
G |
A |
11: 86,611,113 (GRCm39) |
T582M |
probably damaging |
Het |
| Cplx3 |
A |
T |
9: 57,517,290 (GRCm39) |
Y365N |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,125,918 (GRCm39) |
H1896R |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,028,501 (GRCm39) |
R413G |
possibly damaging |
Het |
| Fam131b |
C |
T |
6: 42,295,888 (GRCm39) |
M169I |
possibly damaging |
Het |
| Fam241b |
A |
G |
10: 61,945,671 (GRCm39) |
S52P |
probably benign |
Het |
| Gpd2 |
G |
A |
2: 57,194,498 (GRCm39) |
|
probably null |
Het |
| Gucy1a1 |
T |
A |
3: 82,026,331 (GRCm39) |
Q41L |
probably benign |
Het |
| Ifna16 |
T |
C |
4: 88,594,741 (GRCm39) |
D118G |
probably benign |
Het |
| Kcnn1 |
T |
C |
8: 71,299,135 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Lyst |
A |
T |
13: 13,884,144 (GRCm39) |
H2984L |
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,462,403 (GRCm39) |
Q369* |
probably null |
Het |
| Nalcn |
A |
C |
14: 123,518,527 (GRCm39) |
W1671G |
probably benign |
Het |
| Ndrg2 |
G |
A |
14: 52,144,026 (GRCm39) |
|
probably benign |
Het |
| Nfia |
C |
A |
4: 97,951,286 (GRCm39) |
P371Q |
probably damaging |
Het |
| Or10d5 |
A |
C |
9: 39,861,719 (GRCm39) |
|
probably null |
Het |
| Pcdhb22 |
A |
G |
18: 37,652,009 (GRCm39) |
D159G |
probably damaging |
Het |
| Plekhm3 |
A |
T |
1: 64,960,959 (GRCm39) |
D432E |
possibly damaging |
Het |
| Pramel17 |
T |
A |
4: 101,692,594 (GRCm39) |
T469S |
probably benign |
Het |
| Rab2a |
A |
G |
4: 8,606,448 (GRCm39) |
N195S |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,173,308 (GRCm39) |
Y1764H |
possibly damaging |
Het |
| Scap |
A |
G |
9: 110,213,335 (GRCm39) |
T1127A |
possibly damaging |
Het |
| Shld2 |
T |
C |
14: 33,990,328 (GRCm39) |
T193A |
probably benign |
Het |
| Slc45a2 |
A |
G |
15: 11,022,278 (GRCm39) |
D340G |
probably damaging |
Het |
| Tbc1d23 |
A |
T |
16: 57,034,625 (GRCm39) |
L58Q |
probably damaging |
Het |
| Tmcc1 |
T |
C |
6: 116,110,937 (GRCm39) |
T119A |
probably damaging |
Het |
| Traip |
G |
A |
9: 107,848,192 (GRCm39) |
R437Q |
probably damaging |
Het |
| Tyw3 |
T |
C |
3: 154,293,187 (GRCm39) |
T163A |
possibly damaging |
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 |
|
R4051:Tnfsf10
|
UTSW |
3 |
27,389,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation