Incidental Mutation 'R2909:Tnfrsf18'
| ID |
261130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnfrsf18
|
| Ensembl Gene |
ENSMUSG00000041954 |
| Gene Name |
tumor necrosis factor receptor superfamily, member 18 |
| Synonyms |
Gitr |
| MMRRC Submission |
040496-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2909 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
156110779-156113351 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 156112727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 138
(N138Y)
|
| 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 damaging
Transcript: ENSMUST00000103173
AA Change: N138Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099462
Gene: ENSMUSG00000041954
AA Change: N138Y
| 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 damaging
Transcript: ENSMUST00000122001
AA Change: N138Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113277
Gene: ENSMUSG00000041954
AA Change: N138Y
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
G |
A |
2: 158,467,140 (GRCm39) |
G27R |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,002,102 (GRCm39) |
D1349G |
probably damaging |
Het |
| Chrm3 |
G |
T |
13: 9,928,033 (GRCm39) |
D334E |
probably benign |
Het |
| Clic5 |
A |
C |
17: 44,586,146 (GRCm39) |
T212P |
probably benign |
Het |
| Dapk1 |
G |
A |
13: 60,864,631 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,049,114 (GRCm39) |
L3262H |
probably damaging |
Het |
| Epg5 |
G |
C |
18: 78,026,691 (GRCm39) |
W1227C |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,171,630 (GRCm39) |
S1757P |
probably damaging |
Het |
| Gm3604 |
G |
C |
13: 62,516,832 (GRCm39) |
H509D |
probably benign |
Het |
| Gramd4 |
G |
T |
15: 86,006,384 (GRCm39) |
E163* |
probably null |
Het |
| Hip1r |
T |
A |
5: 124,138,656 (GRCm39) |
|
probably null |
Het |
| Ice1 |
G |
T |
13: 70,744,292 (GRCm39) |
T2097K |
probably damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Kbtbd7 |
A |
G |
14: 79,665,922 (GRCm39) |
T585A |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnq3 |
T |
C |
15: 65,897,085 (GRCm39) |
T272A |
possibly damaging |
Het |
| Ly6l |
T |
G |
15: 75,321,481 (GRCm39) |
|
probably null |
Het |
| Minar1 |
T |
C |
9: 89,473,331 (GRCm39) |
N860S |
probably damaging |
Het |
| Mrps11 |
C |
A |
7: 78,438,497 (GRCm39) |
A83E |
probably damaging |
Het |
| Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
| Pax7 |
T |
C |
4: 139,556,007 (GRCm39) |
I156V |
possibly damaging |
Het |
| Plbd1 |
A |
T |
6: 136,611,572 (GRCm39) |
V235D |
probably damaging |
Het |
| Pml |
T |
C |
9: 58,154,526 (GRCm39) |
S76G |
possibly damaging |
Het |
| Ppp1r42 |
T |
A |
1: 10,073,637 (GRCm39) |
|
probably benign |
Het |
| Rsl24d1 |
T |
C |
9: 73,029,585 (GRCm39) |
L61S |
probably damaging |
Het |
| Rtp2 |
T |
C |
16: 23,746,235 (GRCm39) |
E132G |
probably damaging |
Het |
| Sgk1 |
A |
G |
10: 21,870,715 (GRCm39) |
I23V |
probably benign |
Het |
| Sharpin |
A |
G |
15: 76,234,811 (GRCm39) |
|
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,404,105 (GRCm39) |
Y533N |
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,330,463 (GRCm39) |
I81V |
probably benign |
Het |
| Stxbp5l |
G |
A |
16: 37,028,548 (GRCm39) |
T505M |
possibly damaging |
Het |
| Tmem40 |
A |
G |
6: 115,713,342 (GRCm39) |
|
probably null |
Het |
| Vmn2r87 |
A |
T |
10: 130,314,865 (GRCm39) |
N240K |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,661 (GRCm39) |
E776G |
probably damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,405,377 (GRCm39) |
N840K |
possibly damaging |
Het |
| Vmn2r98 |
T |
C |
17: 19,287,664 (GRCm39) |
I499T |
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 |
|
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 |
|
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'- AGTAGCCTAGGCCCGTTCTAAG -3'
(R):5'- GCCTGAGACACATTTTCCCC -3'
Sequencing Primer
(F):5'- TAGGCCCGTTCTAAGAAAGC -3'
(R):5'- CTTCCCTGGGACACAACTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation