Incidental Mutation 'R0100:Tnfrsf18'
ID |
17150 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnfrsf18
|
Ensembl Gene |
ENSMUSG00000041954 |
Gene Name |
tumor necrosis factor receptor superfamily, member 18 |
Synonyms |
Gitr |
MMRRC Submission |
038386-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0100 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
156110779-156113351 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 156112823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 170
(T170A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040274]
[ENSMUST00000103173]
[ENSMUST00000122001]
|
AlphaFold |
O35714 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040274
|
SMART Domains |
Protein: ENSMUSP00000040035 Gene: ENSMUSG00000041954
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Blast:TNFR
|
29 |
62 |
2e-6 |
BLAST |
EGF
|
76 |
117 |
2.29e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103173
AA Change: T170A
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000099462 Gene: ENSMUSG00000041954 AA Change: T170A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
TNFR
|
62 |
100 |
2.92e1 |
SMART |
EGF
|
76 |
117 |
2.29e1 |
SMART |
TNFR
|
103 |
141 |
5.56e-3 |
SMART |
transmembrane domain
|
156 |
178 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122001
AA Change: T170A
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000113277 Gene: ENSMUSG00000041954 AA Change: T170A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
TNFR
|
62 |
100 |
2.92e1 |
SMART |
EGF
|
76 |
117 |
2.29e1 |
SMART |
TNFR
|
103 |
141 |
5.56e-3 |
SMART |
transmembrane domain
|
156 |
178 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124339
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125100
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126009
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141260
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151836
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181389
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 90.3%
- 3x: 88.1%
- 10x: 82.7%
- 20x: 75.2%
|
Validation Efficiency |
89% (68/76) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TNF-receptor superfamily. The encoded receptor has been shown to have increased expression upon T-cell activation, and it is thought to play a key role in dominant immunological self-tolerance maintained by CD25(+)CD4(+) regulatory T cells. Knockout studies in mice also suggest the role of this receptor is in the regulation of CD3-driven T-cell activation and programmed cell death. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Feb 2011] PHENOTYPE: Mice homozygous for a targeted mutation display dysregulation of T-cell receptor/CD3-driven T-cell activation and programmed cell death. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrn |
A |
G |
4: 156,259,415 (GRCm39) |
C814R |
probably damaging |
Het |
Aoc1 |
T |
C |
6: 48,885,538 (GRCm39) |
I681T |
possibly damaging |
Het |
Atp13a4 |
T |
C |
16: 29,240,542 (GRCm39) |
H793R |
probably damaging |
Het |
Atp6v0a4 |
T |
C |
6: 38,053,750 (GRCm39) |
I351V |
probably benign |
Het |
Bbof1 |
T |
A |
12: 84,457,829 (GRCm39) |
D31E |
probably benign |
Het |
Cpxm2 |
T |
A |
7: 131,656,600 (GRCm39) |
H554L |
possibly damaging |
Het |
Ddx55 |
C |
T |
5: 124,694,845 (GRCm39) |
T91I |
probably damaging |
Het |
Dhx57 |
T |
C |
17: 80,582,585 (GRCm39) |
D340G |
possibly damaging |
Het |
Dnah1 |
C |
T |
14: 30,984,109 (GRCm39) |
|
probably null |
Het |
Dpp9 |
C |
T |
17: 56,512,854 (GRCm39) |
G118D |
possibly damaging |
Het |
Etl4 |
T |
C |
2: 20,344,716 (GRCm39) |
S4P |
probably benign |
Het |
Fat4 |
A |
C |
3: 39,034,397 (GRCm39) |
N2683T |
probably damaging |
Het |
Gabrb2 |
A |
G |
11: 42,378,141 (GRCm39) |
D119G |
probably damaging |
Het |
Garre1 |
A |
G |
7: 33,953,436 (GRCm39) |
I442T |
possibly damaging |
Het |
Greb1 |
T |
A |
12: 16,730,225 (GRCm39) |
Q1734L |
probably benign |
Het |
Gtf2ird2 |
T |
C |
5: 134,245,857 (GRCm39) |
L705P |
probably damaging |
Het |
H13 |
T |
A |
2: 152,531,783 (GRCm39) |
|
probably null |
Het |
Hgs |
T |
G |
11: 120,373,678 (GRCm39) |
Y708D |
possibly damaging |
Het |
Hip1 |
T |
C |
5: 135,465,307 (GRCm39) |
D367G |
probably benign |
Het |
Ift140 |
C |
T |
17: 25,309,928 (GRCm39) |
Q1112* |
probably null |
Het |
Il17b |
A |
G |
18: 61,823,342 (GRCm39) |
M59V |
probably benign |
Het |
Lpin3 |
T |
C |
2: 160,747,260 (GRCm39) |
Y829H |
probably damaging |
Het |
Lrrk2 |
A |
T |
15: 91,629,999 (GRCm39) |
N1230I |
probably damaging |
Het |
Mindy2 |
C |
A |
9: 70,514,731 (GRCm39) |
|
probably benign |
Het |
Nup210 |
T |
G |
6: 91,046,175 (GRCm39) |
E586A |
probably benign |
Het |
Or1j17 |
A |
T |
2: 36,578,923 (GRCm39) |
N303I |
probably benign |
Het |
Or2bd2 |
C |
T |
7: 6,443,399 (GRCm39) |
R167C |
probably damaging |
Het |
Or5be3 |
T |
C |
2: 86,863,939 (GRCm39) |
T209A |
probably benign |
Het |
Osgepl1 |
A |
G |
1: 53,362,372 (GRCm39) |
I405V |
probably damaging |
Het |
Pdcd11 |
T |
C |
19: 47,091,105 (GRCm39) |
S360P |
probably benign |
Het |
Plekha6 |
T |
C |
1: 133,197,915 (GRCm39) |
S271P |
probably damaging |
Het |
Plekhs1 |
A |
G |
19: 56,466,934 (GRCm39) |
E255G |
probably damaging |
Het |
Pram1 |
T |
A |
17: 33,860,373 (GRCm39) |
N313K |
possibly damaging |
Het |
Rapgef5 |
C |
T |
12: 117,685,034 (GRCm39) |
S261L |
probably benign |
Het |
Spint5 |
T |
A |
2: 164,558,920 (GRCm39) |
C49S |
probably damaging |
Het |
Tex22 |
T |
A |
12: 113,052,392 (GRCm39) |
I150N |
probably benign |
Het |
Thoc6 |
A |
T |
17: 23,888,824 (GRCm39) |
W195R |
probably damaging |
Het |
Tmem106a |
T |
C |
11: 101,477,084 (GRCm39) |
S98P |
probably benign |
Het |
Tor1aip1 |
A |
T |
1: 155,882,821 (GRCm39) |
D342E |
probably damaging |
Het |
Trav7-6 |
T |
C |
14: 53,954,529 (GRCm39) |
S20P |
probably damaging |
Het |
Trpc6 |
C |
T |
9: 8,653,035 (GRCm39) |
P614S |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,215,947 (GRCm39) |
F811L |
possibly damaging |
Het |
|
Other mutations in Tnfrsf18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01360:Tnfrsf18
|
APN |
4 |
156,112,493 (GRCm39) |
nonsense |
probably null |
|
R0100:Tnfrsf18
|
UTSW |
4 |
156,112,823 (GRCm39) |
missense |
probably benign |
0.15 |
R0311:Tnfrsf18
|
UTSW |
4 |
156,110,872 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0624:Tnfrsf18
|
UTSW |
4 |
156,110,986 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1158:Tnfrsf18
|
UTSW |
4 |
156,112,739 (GRCm39) |
missense |
probably benign |
0.29 |
R2117:Tnfrsf18
|
UTSW |
4 |
156,112,973 (GRCm39) |
missense |
probably damaging |
0.99 |
R2909:Tnfrsf18
|
UTSW |
4 |
156,112,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R4610:Tnfrsf18
|
UTSW |
4 |
156,106,337 (GRCm39) |
unclassified |
probably benign |
|
R5307:Tnfrsf18
|
UTSW |
4 |
156,112,881 (GRCm39) |
critical splice donor site |
probably null |
|
R6571:Tnfrsf18
|
UTSW |
4 |
156,112,776 (GRCm39) |
nonsense |
probably null |
|
R7111:Tnfrsf18
|
UTSW |
4 |
156,113,168 (GRCm39) |
missense |
probably damaging |
0.97 |
R8058:Tnfrsf18
|
UTSW |
4 |
156,112,802 (GRCm39) |
missense |
probably benign |
0.29 |
R9376:Tnfrsf18
|
UTSW |
4 |
156,112,448 (GRCm39) |
missense |
probably benign |
0.15 |
R9573:Tnfrsf18
|
UTSW |
4 |
156,112,484 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9609:Tnfrsf18
|
UTSW |
4 |
156,113,208 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Posted On |
2013-01-20 |