Incidental Mutation 'R0311:Tnfrsf18'
| ID |
25183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnfrsf18
|
| Ensembl Gene |
ENSMUSG00000041954 |
| Gene Name |
tumor necrosis factor receptor superfamily, member 18 |
| Synonyms |
Gitr |
| MMRRC Submission |
038521-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0311 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
156110779-156113351 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156110872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 10
(V10A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040274]
[ENSMUST00000103173]
[ENSMUST00000122001]
|
| AlphaFold |
O35714 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040274
AA Change: V10A
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040035
Gene: ENSMUSG00000041954
AA Change: V10A
| 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 |
possibly damaging
Transcript: ENSMUST00000103173
AA Change: V10A
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099462
Gene: ENSMUSG00000041954
AA Change: V10A
| 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 |
possibly damaging
Transcript: ENSMUST00000122001
AA Change: V10A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113277
Gene: ENSMUSG00000041954
AA Change: V10A
| 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: ENSMUST00000195694
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157920
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181389
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.6%
- 20x: 91.6%
|
| Validation Efficiency |
100% (43/43) |
| 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 |
|---|
| Abca15 |
A |
C |
7: 120,002,127 (GRCm39) |
M1547L |
probably damaging |
Het |
| Abcb4 |
A |
G |
5: 8,984,243 (GRCm39) |
K658E |
probably benign |
Het |
| Abr |
A |
G |
11: 76,399,953 (GRCm39) |
S15P |
possibly damaging |
Het |
| Adgrb2 |
G |
C |
4: 129,910,922 (GRCm39) |
A1168P |
probably damaging |
Het |
| Adgre4 |
A |
T |
17: 56,109,010 (GRCm39) |
E339V |
probably benign |
Het |
| Asprv1 |
T |
C |
6: 86,605,822 (GRCm39) |
W223R |
probably damaging |
Het |
| Ccdc89 |
A |
G |
7: 90,075,901 (GRCm39) |
E37G |
probably damaging |
Het |
| Cd48 |
C |
A |
1: 171,527,148 (GRCm39) |
Y191* |
probably null |
Het |
| Chd4 |
T |
C |
6: 125,078,628 (GRCm39) |
I257T |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,638,257 (GRCm39) |
M2V |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,090,868 (GRCm39) |
D1025E |
probably benign |
Het |
| Erich5 |
A |
G |
15: 34,473,085 (GRCm39) |
*363W |
probably null |
Het |
| Etl4 |
A |
G |
2: 20,811,940 (GRCm39) |
D1341G |
probably damaging |
Het |
| Fbxw11 |
A |
G |
11: 32,672,083 (GRCm39) |
T184A |
probably benign |
Het |
| Fktn |
A |
G |
4: 53,744,620 (GRCm39) |
Q300R |
probably benign |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gdpd3 |
G |
A |
7: 126,366,361 (GRCm39) |
R66Q |
possibly damaging |
Het |
| Hexb |
A |
G |
13: 97,320,327 (GRCm39) |
|
probably benign |
Het |
| Kdm4b |
A |
G |
17: 56,693,200 (GRCm39) |
R346G |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,812,183 (GRCm39) |
|
probably null |
Het |
| Med23 |
T |
A |
10: 24,773,256 (GRCm39) |
C653S |
possibly damaging |
Het |
| Nwd2 |
A |
T |
5: 63,962,341 (GRCm39) |
I642L |
probably damaging |
Het |
| Or5b12 |
T |
A |
19: 12,897,460 (GRCm39) |
Y71F |
possibly damaging |
Het |
| Or5b21 |
A |
G |
19: 12,839,233 (GRCm39) |
I31M |
probably benign |
Het |
| Or8b48 |
T |
C |
9: 38,450,593 (GRCm39) |
V134A |
probably benign |
Het |
| Pbld2 |
T |
C |
10: 62,890,286 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
| Plpp2 |
C |
T |
10: 79,363,414 (GRCm39) |
R77K |
probably damaging |
Het |
| Pym1 |
G |
T |
10: 128,601,853 (GRCm39) |
R168L |
possibly damaging |
Het |
| Rbm4 |
T |
C |
19: 4,837,584 (GRCm39) |
Y300C |
probably damaging |
Het |
| Rnf207 |
A |
G |
4: 152,400,236 (GRCm39) |
C175R |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
C |
1: 75,407,581 (GRCm39) |
V3196A |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,298,943 (GRCm39) |
I1048L |
possibly damaging |
Het |
| Th |
T |
C |
7: 142,449,778 (GRCm39) |
E41G |
probably damaging |
Het |
| Tmx4 |
T |
A |
2: 134,440,446 (GRCm39) |
*336L |
probably null |
Het |
| Tnxb |
A |
T |
17: 34,935,958 (GRCm39) |
I2670F |
probably damaging |
Het |
| Tpx2 |
T |
C |
2: 152,732,412 (GRCm39) |
V562A |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,520,997 (GRCm39) |
S324P |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,127,846 (GRCm39) |
Y890H |
probably benign |
Het |
| Ythdc1 |
G |
A |
5: 86,983,564 (GRCm39) |
D670N |
probably 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 |
|
R0100:Tnfrsf18
|
UTSW |
4 |
156,112,823 (GRCm39) |
missense |
probably benign |
0.15 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTGCTCTACACTTCACAGAAGG -3'
(R):5'- GCTCCCACATTCTGAGAGGAAGTTG -3'
Sequencing Primer
(F):5'- GGCCTTTACAAACACCTCAGATG -3'
(R):5'- CTGAGAGGAAGTTGTCCCTCTAC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation