Incidental Mutation 'R1158:Tnfrsf18'
| ID |
101868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnfrsf18
|
| Ensembl Gene |
ENSMUSG00000041954 |
| Gene Name |
tumor necrosis factor receptor superfamily, member 18 |
| Synonyms |
Gitr |
| MMRRC Submission |
039231-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1158 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
156110779-156113351 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 156112739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 142
(I142L)
|
| 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: I142L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000099462
Gene: ENSMUSG00000041954
AA Change: I142L
| 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: I142L
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113277
Gene: ENSMUSG00000041954
AA Change: I142L
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
98% (43/44) |
| 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 |
|---|
| Adpgk |
T |
C |
9: 59,217,566 (GRCm39) |
V193A |
possibly damaging |
Het |
| Ahnak |
A |
C |
19: 8,991,290 (GRCm39) |
E4191D |
probably benign |
Het |
| BC024139 |
T |
A |
15: 76,004,542 (GRCm39) |
|
probably benign |
Het |
| Bpifb9a |
T |
G |
2: 154,104,184 (GRCm39) |
I209S |
probably benign |
Het |
| Bst1 |
T |
G |
5: 43,997,834 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Carf |
A |
G |
1: 60,186,998 (GRCm39) |
K499E |
probably benign |
Het |
| Casq2 |
A |
G |
3: 102,024,199 (GRCm39) |
E147G |
probably damaging |
Het |
| Cd8a |
T |
A |
6: 71,350,712 (GRCm39) |
V59D |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,310,214 (GRCm39) |
T301A |
probably benign |
Het |
| Cog5 |
G |
A |
12: 31,920,056 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,156,170 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
C |
9: 86,367,609 (GRCm39) |
S31P |
probably damaging |
Het |
| Eif1ad9 |
A |
T |
12: 88,296,438 (GRCm39) |
I139F |
unknown |
Het |
| Epb41 |
T |
C |
4: 131,727,502 (GRCm39) |
|
probably benign |
Het |
| Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,250 (GRCm39) |
F94L |
probably benign |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Htr3b |
T |
C |
9: 48,847,390 (GRCm39) |
K375R |
possibly damaging |
Het |
| Inhbe |
G |
A |
10: 127,187,186 (GRCm39) |
R77W |
probably damaging |
Het |
| Itgb8 |
T |
C |
12: 119,166,231 (GRCm39) |
E100G |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,248,472 (GRCm39) |
V44A |
possibly damaging |
Het |
| Lrp12 |
A |
G |
15: 39,741,827 (GRCm39) |
V315A |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,567,506 (GRCm39) |
T305S |
unknown |
Het |
| Map3k2 |
A |
G |
18: 32,350,211 (GRCm39) |
T354A |
probably benign |
Het |
| Mmp16 |
T |
C |
4: 17,987,726 (GRCm39) |
|
probably null |
Het |
| Mphosph10 |
T |
C |
7: 64,038,607 (GRCm39) |
|
probably benign |
Het |
| Or10a48 |
A |
G |
7: 108,424,385 (GRCm39) |
S274P |
probably damaging |
Het |
| Or10ak7 |
A |
T |
4: 118,791,614 (GRCm39) |
C144S |
probably damaging |
Het |
| Or4c52 |
T |
A |
2: 89,845,598 (GRCm39) |
I108N |
possibly damaging |
Het |
| Or4k47 |
T |
C |
2: 111,452,086 (GRCm39) |
E111G |
probably damaging |
Het |
| Or5p52 |
G |
A |
7: 107,502,130 (GRCm39) |
V69I |
possibly damaging |
Het |
| Slc43a3 |
C |
A |
2: 84,768,140 (GRCm39) |
F37L |
probably benign |
Het |
| Slf2 |
G |
T |
19: 44,919,855 (GRCm39) |
A36S |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,132,598 (GRCm39) |
|
probably benign |
Het |
| Thsd7b |
A |
C |
1: 130,117,672 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,632,855 (GRCm39) |
|
probably benign |
Het |
| Tufm |
T |
A |
7: 126,088,614 (GRCm39) |
|
probably null |
Het |
| Vmn2r69 |
A |
T |
7: 85,059,058 (GRCm39) |
|
probably benign |
Het |
| Zfp385c |
T |
C |
11: 100,520,709 (GRCm39) |
|
probably benign |
Het |
| Zfp964 |
T |
A |
8: 70,116,503 (GRCm39) |
C368S |
unknown |
Het |
| Zswim8 |
G |
A |
14: 20,771,736 (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 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation