Incidental Mutation 'R6571:Tnfrsf18'
| ID |
526233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnfrsf18
|
| Ensembl Gene |
ENSMUSG00000041954 |
| Gene Name |
tumor necrosis factor receptor superfamily, member 18 |
| Synonyms |
Gitr |
| MMRRC Submission |
044695-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6571 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
156110779-156113351 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 156112776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 154
(L154*)
|
| 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 null
Transcript: ENSMUST00000103173
AA Change: L154*
|
| SMART Domains |
Protein: ENSMUSP00000099462
Gene: ENSMUSG00000041954
AA Change: L154*
| 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 null
Transcript: ENSMUST00000122001
AA Change: L154*
|
| SMART Domains |
Protein: ENSMUSP00000113277
Gene: ENSMUSG00000041954
AA Change: L154*
| 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: ENSMUST00000181389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151836
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
94% (31/33) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
G |
11: 54,216,390 (GRCm39) |
I161V |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,065,187 (GRCm39) |
F24S |
probably benign |
Het |
| Bche |
G |
T |
3: 73,608,824 (GRCm39) |
Q201K |
probably benign |
Het |
| Camsap1 |
A |
T |
2: 25,829,512 (GRCm39) |
D757E |
possibly damaging |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Dab2ip |
T |
C |
2: 35,602,902 (GRCm39) |
S399P |
probably damaging |
Het |
| Fbxo40 |
A |
T |
16: 36,789,668 (GRCm39) |
C481S |
probably damaging |
Het |
| Fn1 |
T |
A |
1: 71,665,349 (GRCm39) |
T923S |
probably damaging |
Het |
| Gm11437 |
T |
C |
11: 84,047,038 (GRCm39) |
D147G |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,937,999 (GRCm39) |
E427G |
probably damaging |
Het |
| Gm6401 |
T |
A |
14: 41,787,452 (GRCm39) |
I125F |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,491,189 (GRCm39) |
|
probably null |
Het |
| Inpp4a |
T |
C |
1: 37,426,839 (GRCm39) |
M600T |
probably damaging |
Het |
| Itgb6 |
T |
C |
2: 60,458,800 (GRCm39) |
E374G |
probably damaging |
Het |
| Lrba |
A |
C |
3: 86,267,367 (GRCm39) |
S1686R |
probably damaging |
Het |
| Map3k4 |
T |
C |
17: 12,461,579 (GRCm39) |
D1200G |
possibly damaging |
Het |
| Mmp25 |
T |
C |
17: 23,858,870 (GRCm39) |
H227R |
probably benign |
Het |
| Or6c38 |
A |
C |
10: 128,928,990 (GRCm39) |
N284K |
probably damaging |
Het |
| Papss2 |
G |
A |
19: 32,629,342 (GRCm39) |
|
probably null |
Het |
| Rasal2 |
T |
A |
1: 156,988,749 (GRCm39) |
R718S |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,620,707 (GRCm39) |
D394G |
probably benign |
Het |
| Rngtt |
T |
A |
4: 33,379,413 (GRCm39) |
D438E |
probably damaging |
Het |
| S1pr1 |
A |
G |
3: 115,505,452 (GRCm39) |
S381P |
possibly damaging |
Het |
| Septin8 |
A |
G |
11: 53,427,990 (GRCm39) |
E268G |
probably damaging |
Het |
| Slc6a21 |
A |
G |
7: 44,930,303 (GRCm39) |
K234R |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,783,737 (GRCm39) |
|
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,433,752 (GRCm39) |
|
probably benign |
Het |
| Spag5 |
G |
T |
11: 78,212,095 (GRCm39) |
R1041I |
probably damaging |
Het |
| Spata31d1b |
A |
T |
13: 59,865,269 (GRCm39) |
M806L |
probably benign |
Het |
| Trib2 |
T |
C |
12: 15,844,060 (GRCm39) |
E194G |
probably damaging |
Het |
| Vmn2r33 |
A |
G |
7: 7,566,668 (GRCm39) |
V148A |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,578,298 (GRCm39) |
R405W |
probably damaging |
Het |
| Zfp747l1 |
T |
C |
7: 126,984,310 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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'- CAAATGGCTTAGGGGACAGC -3'
(R):5'- TGCAAGCATCCTCAGCTGAC -3'
Sequencing Primer
(F):5'- ACAGCAGTCCTTCTAGTGTGGTC -3'
(R):5'- AATGGCTGGGTCTCTGTAGTAAAAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation