Incidental Mutation 'R1147:Tox'
ID |
102477 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tox
|
Ensembl Gene |
ENSMUSG00000041272 |
Gene Name |
thymocyte selection-associated high mobility group box |
Synonyms |
1700007F02Rik |
MMRRC Submission |
039220-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1147 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
6686353-6991557 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 6823055 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 87
(N87K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037966
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039987]
|
AlphaFold |
Q66JW3 |
PDB Structure |
Solution structure of the HMG_box domain of thymus high mobility group box protein TOX from mouse [SOLUTION NMR]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039987
AA Change: N87K
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000037966 Gene: ENSMUSG00000041272 AA Change: N87K
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
low complexity region
|
204 |
220 |
N/A |
INTRINSIC |
HMG
|
260 |
330 |
1.11e-19 |
SMART |
low complexity region
|
416 |
439 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147657
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150082
|
Meta Mutation Damage Score |
0.1035 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 97.7%
- 10x: 89.5%
- 20x: 66.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development.[provided by RefSeq, Apr 2009] PHENOTYPE: Mice homozygous for a knock-out allele have a severe block in thymic positive selection leading to loss of CD4 T lineage cells, and display decreased NK cell numbers, severely reduced numbers of lymphoid tissue inducer cells, absence of all peripheral lymph nodes, and loss of Peyer's patches. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam20 |
T |
C |
8: 41,248,655 (GRCm39) |
I255T |
possibly damaging |
Het |
Aknad1 |
T |
A |
3: 108,659,857 (GRCm39) |
N290K |
possibly damaging |
Het |
Ano8 |
C |
A |
8: 71,934,661 (GRCm39) |
V447F |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Ash1l |
A |
T |
3: 88,892,194 (GRCm39) |
M1358L |
possibly damaging |
Het |
Ccdc110 |
A |
G |
8: 46,397,121 (GRCm39) |
K837E |
possibly damaging |
Het |
Cd19 |
T |
A |
7: 126,010,217 (GRCm39) |
D384V |
possibly damaging |
Het |
Ces1f |
C |
T |
8: 93,984,909 (GRCm39) |
V473I |
possibly damaging |
Het |
Chd6 |
C |
T |
2: 160,832,191 (GRCm39) |
E994K |
probably damaging |
Het |
Col5a2 |
G |
T |
1: 45,415,931 (GRCm39) |
N1405K |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,379,426 (GRCm39) |
D3720G |
probably damaging |
Het |
Dsel |
T |
C |
1: 111,789,939 (GRCm39) |
T199A |
possibly damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Flacc1 |
A |
T |
1: 58,708,622 (GRCm39) |
Y215N |
probably damaging |
Het |
Hrg |
G |
T |
16: 22,779,754 (GRCm39) |
C344F |
probably damaging |
Het |
Htt |
T |
C |
5: 35,008,596 (GRCm39) |
Y1462H |
probably damaging |
Het |
Kcnh2 |
T |
A |
5: 24,529,385 (GRCm39) |
I784F |
probably damaging |
Het |
Kifc3 |
T |
C |
8: 95,864,546 (GRCm39) |
T55A |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Oog3 |
A |
G |
4: 143,884,982 (GRCm39) |
F318S |
possibly damaging |
Het |
Or2a20 |
A |
T |
6: 43,194,146 (GRCm39) |
T100S |
probably damaging |
Het |
Or52w1 |
G |
A |
7: 105,018,484 (GRCm39) |
R308Q |
probably benign |
Het |
Pde5a |
C |
T |
3: 122,587,962 (GRCm39) |
T376M |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,400,837 (GRCm39) |
I2204V |
probably null |
Het |
Ppp1r13l |
A |
G |
7: 19,109,772 (GRCm39) |
D731G |
probably damaging |
Het |
Ptk6 |
C |
T |
2: 180,837,590 (GRCm39) |
G443D |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Ptprs |
T |
C |
17: 56,730,504 (GRCm39) |
D749G |
probably damaging |
Het |
Ralgapa1 |
A |
T |
12: 55,749,265 (GRCm39) |
D1212E |
probably damaging |
Het |
Rsad1 |
T |
C |
11: 94,434,966 (GRCm39) |
Y290C |
probably damaging |
Het |
Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
Slc6a11 |
T |
A |
6: 114,221,831 (GRCm39) |
I507N |
possibly damaging |
Het |
Sp140l1 |
C |
G |
1: 85,077,226 (GRCm39) |
K113N |
probably benign |
Het |
Sybu |
A |
T |
15: 44,609,651 (GRCm39) |
F78I |
probably damaging |
Het |
Trrap |
G |
A |
5: 144,741,576 (GRCm39) |
G1308R |
probably damaging |
Het |
Trub2 |
A |
G |
2: 29,677,644 (GRCm39) |
|
probably benign |
Het |
Vmn2r114 |
A |
T |
17: 23,530,037 (GRCm39) |
H123Q |
probably benign |
Het |
Vmn2r15 |
T |
A |
5: 109,441,072 (GRCm39) |
Y262F |
probably damaging |
Het |
Vmn2r33 |
C |
T |
7: 7,557,144 (GRCm39) |
E519K |
probably benign |
Het |
Zfp106 |
A |
T |
2: 120,351,017 (GRCm39) |
C1545S |
probably damaging |
Het |
|
Other mutations in Tox |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01359:Tox
|
APN |
4 |
6,697,583 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01481:Tox
|
APN |
4 |
6,842,396 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01600:Tox
|
APN |
4 |
6,697,585 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01616:Tox
|
APN |
4 |
6,688,430 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02160:Tox
|
APN |
4 |
6,711,537 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02390:Tox
|
APN |
4 |
6,697,534 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03243:Tox
|
APN |
4 |
6,697,597 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0008:Tox
|
UTSW |
4 |
6,842,411 (GRCm39) |
missense |
probably benign |
0.41 |
R0008:Tox
|
UTSW |
4 |
6,842,411 (GRCm39) |
missense |
probably benign |
0.41 |
R1147:Tox
|
UTSW |
4 |
6,823,055 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1159:Tox
|
UTSW |
4 |
6,697,600 (GRCm39) |
missense |
probably benign |
0.37 |
R1903:Tox
|
UTSW |
4 |
6,688,948 (GRCm39) |
missense |
probably damaging |
0.99 |
R1961:Tox
|
UTSW |
4 |
6,688,886 (GRCm39) |
missense |
probably damaging |
0.96 |
R2484:Tox
|
UTSW |
4 |
6,688,886 (GRCm39) |
missense |
probably damaging |
0.96 |
R3692:Tox
|
UTSW |
4 |
6,697,535 (GRCm39) |
missense |
probably benign |
0.05 |
R4072:Tox
|
UTSW |
4 |
6,842,396 (GRCm39) |
missense |
probably damaging |
0.99 |
R4635:Tox
|
UTSW |
4 |
6,990,501 (GRCm39) |
utr 5 prime |
probably benign |
|
R4815:Tox
|
UTSW |
4 |
6,823,033 (GRCm39) |
missense |
probably benign |
|
R5099:Tox
|
UTSW |
4 |
6,688,958 (GRCm39) |
missense |
probably benign |
0.28 |
R5421:Tox
|
UTSW |
4 |
6,842,409 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5537:Tox
|
UTSW |
4 |
6,697,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R5630:Tox
|
UTSW |
4 |
6,688,835 (GRCm39) |
small insertion |
probably benign |
|
R5883:Tox
|
UTSW |
4 |
6,697,444 (GRCm39) |
missense |
probably benign |
|
R6351:Tox
|
UTSW |
4 |
6,741,536 (GRCm39) |
missense |
probably benign |
0.11 |
R6351:Tox
|
UTSW |
4 |
6,697,439 (GRCm39) |
missense |
probably benign |
|
R6448:Tox
|
UTSW |
4 |
6,822,975 (GRCm39) |
missense |
probably benign |
0.08 |
R6934:Tox
|
UTSW |
4 |
6,697,635 (GRCm39) |
missense |
probably damaging |
0.98 |
R7513:Tox
|
UTSW |
4 |
6,741,507 (GRCm39) |
missense |
probably benign |
|
R7915:Tox
|
UTSW |
4 |
6,822,949 (GRCm39) |
missense |
probably benign |
|
R8223:Tox
|
UTSW |
4 |
6,842,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R8766:Tox
|
UTSW |
4 |
6,823,047 (GRCm39) |
missense |
probably damaging |
0.99 |
R9702:Tox
|
UTSW |
4 |
6,697,418 (GRCm39) |
missense |
probably benign |
0.02 |
Z1088:Tox
|
UTSW |
4 |
6,688,450 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Tox
|
UTSW |
4 |
6,990,629 (GRCm39) |
start gained |
probably benign |
|
|
Predicted Primers |
|
Posted On |
2014-01-15 |