Incidental Mutation 'R6934:Tox'
ID |
540193 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tox
|
Ensembl Gene |
ENSMUSG00000041272 |
Gene Name |
thymocyte selection-associated high mobility group box |
Synonyms |
1700007F02Rik |
MMRRC Submission |
045049-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6934 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
6686353-6991557 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 6697635 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 389
(H389Q)
|
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 |
probably damaging
Transcript: ENSMUST00000039987
AA Change: H389Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000037966 Gene: ENSMUSG00000041272 AA Change: H389Q
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018B08Rik |
T |
A |
8: 122,266,712 (GRCm39) |
Y58F |
probably benign |
Het |
Asap2 |
T |
C |
12: 21,218,251 (GRCm39) |
V58A |
probably damaging |
Het |
Bccip |
A |
G |
7: 133,322,520 (GRCm39) |
M289V |
probably benign |
Het |
Bhmt2 |
A |
T |
13: 93,798,819 (GRCm39) |
I334N |
probably benign |
Het |
Copa |
T |
A |
1: 171,938,253 (GRCm39) |
I513N |
possibly damaging |
Het |
Cspg4b |
T |
C |
13: 113,505,800 (GRCm39) |
S2310P |
probably benign |
Het |
Ctif |
G |
A |
18: 75,568,431 (GRCm39) |
T569M |
probably benign |
Het |
Dennd1a |
A |
T |
2: 37,691,225 (GRCm39) |
M231K |
possibly damaging |
Het |
Dnah3 |
A |
G |
7: 119,653,824 (GRCm39) |
|
probably null |
Het |
Fat3 |
T |
C |
9: 16,288,252 (GRCm39) |
I424V |
probably damaging |
Het |
Foxred2 |
G |
T |
15: 77,836,530 (GRCm39) |
C328* |
probably null |
Het |
Gemin5 |
A |
T |
11: 58,038,738 (GRCm39) |
H590Q |
probably damaging |
Het |
Gm5475 |
T |
C |
15: 100,325,007 (GRCm39) |
|
probably benign |
Het |
Gmip |
A |
G |
8: 70,273,576 (GRCm39) |
T956A |
probably benign |
Het |
Hmbox1 |
A |
T |
14: 65,134,281 (GRCm39) |
D106E |
probably benign |
Het |
Irs2 |
A |
T |
8: 11,054,697 (GRCm39) |
I1245N |
probably damaging |
Het |
Kcnk1 |
A |
G |
8: 126,752,129 (GRCm39) |
Y245C |
probably damaging |
Het |
Krtap4-9 |
A |
T |
11: 99,676,708 (GRCm39) |
R210* |
probably null |
Het |
Lama1 |
A |
G |
17: 68,081,538 (GRCm39) |
D1325G |
probably benign |
Het |
Lyz3 |
C |
T |
10: 117,074,413 (GRCm39) |
D25N |
probably benign |
Het |
Mep1a |
A |
T |
17: 43,793,121 (GRCm39) |
V361E |
probably damaging |
Het |
Mrgprx2 |
A |
G |
7: 48,131,813 (GRCm39) |
I92T |
possibly damaging |
Het |
Nup214 |
A |
T |
2: 31,872,683 (GRCm39) |
R242* |
probably null |
Het |
Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
Or13a24 |
T |
G |
7: 140,154,564 (GRCm39) |
L166R |
probably damaging |
Het |
Or5p60 |
A |
G |
7: 107,724,026 (GRCm39) |
V148A |
probably benign |
Het |
Or8b1c |
T |
G |
9: 38,384,472 (GRCm39) |
I143S |
probably benign |
Het |
Orc2 |
T |
C |
1: 58,539,523 (GRCm39) |
K39E |
probably benign |
Het |
Ppl |
C |
T |
16: 4,912,373 (GRCm39) |
G736D |
probably benign |
Het |
Ppp2r1a |
A |
G |
17: 21,181,895 (GRCm39) |
E471G |
possibly damaging |
Het |
Prrc2c |
G |
A |
1: 162,548,074 (GRCm39) |
P161S |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,310,893 (GRCm39) |
I804V |
probably benign |
Het |
Saal1 |
A |
G |
7: 46,352,088 (GRCm39) |
C144R |
probably benign |
Het |
Slc29a4 |
G |
A |
5: 142,698,713 (GRCm39) |
V125I |
probably benign |
Het |
Smarcc2 |
A |
G |
10: 128,305,541 (GRCm39) |
T322A |
probably benign |
Het |
Srgap2 |
A |
T |
1: 131,244,969 (GRCm39) |
M591K |
possibly damaging |
Het |
Stard9 |
A |
G |
2: 120,528,176 (GRCm39) |
I1478V |
probably benign |
Het |
Tet2 |
A |
G |
3: 133,188,998 (GRCm39) |
|
probably null |
Het |
Tmem150c |
C |
T |
5: 100,243,465 (GRCm39) |
|
probably null |
Het |
Tmem39b |
T |
A |
4: 129,572,366 (GRCm39) |
H412L |
possibly damaging |
Het |
Trank1 |
T |
C |
9: 111,202,158 (GRCm39) |
I1595T |
probably damaging |
Het |
Vmn2r-ps117 |
T |
G |
17: 19,044,967 (GRCm39) |
Y461* |
probably null |
Het |
Vps13a |
T |
C |
19: 16,653,558 (GRCm39) |
H1941R |
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 |
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 |
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 |
PCR Primer
(F):5'- AGACTTACTTGCTGCATGGTGG -3'
(R):5'- CTGCAGAGCTACACTGATCC -3'
Sequencing Primer
(F):5'- TAAGGCAGTCTGGACCTGCATG -3'
(R):5'- CAGAGCTACACTGATCCTGTTGATG -3'
|
Posted On |
2018-11-06 |