Incidental Mutation 'R9702:Tox'
ID |
729613 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tox
|
Ensembl Gene |
ENSMUSG00000041272 |
Gene Name |
thymocyte selection-associated high mobility group box |
Synonyms |
1700007F02Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9702 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
6686353-6991557 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 6697418 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 462
(M462L)
|
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 benign
Transcript: ENSMUST00000039987
AA Change: M462L
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000037966 Gene: ENSMUSG00000041272 AA Change: M462L
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: 99.7%
- 20x: 98.9%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
G |
11: 110,107,378 (GRCm39) |
Y746H |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,684,483 (GRCm39) |
I1073F |
possibly damaging |
Het |
Ankrd6 |
C |
T |
4: 32,810,202 (GRCm39) |
R493H |
possibly damaging |
Het |
Apob |
G |
T |
12: 8,057,559 (GRCm39) |
A2014S |
probably damaging |
Het |
Bdnf |
A |
T |
2: 109,554,117 (GRCm39) |
M164L |
possibly damaging |
Het |
Ccdc187 |
C |
T |
2: 26,172,222 (GRCm39) |
V287M |
unknown |
Het |
Cd164 |
G |
A |
10: 41,404,818 (GRCm39) |
R192Q |
probably damaging |
Het |
Cd84 |
T |
C |
1: 171,700,498 (GRCm39) |
V205A |
probably benign |
Het |
Cfap161 |
T |
A |
7: 83,442,652 (GRCm39) |
M54L |
probably benign |
Het |
Crim1 |
T |
A |
17: 78,681,516 (GRCm39) |
V990E |
probably damaging |
Het |
Dsc1 |
A |
G |
18: 20,227,685 (GRCm39) |
F518L |
probably benign |
Het |
Esyt1 |
G |
A |
10: 128,356,607 (GRCm39) |
S346L |
probably damaging |
Het |
Fbxo30 |
G |
T |
10: 11,166,382 (GRCm39) |
C368F |
probably benign |
Het |
Gas2l3 |
C |
T |
10: 89,249,943 (GRCm39) |
A392T |
probably benign |
Het |
Gfra4 |
T |
A |
2: 130,884,539 (GRCm39) |
S22C |
probably benign |
Het |
Gm11992 |
T |
G |
11: 9,006,568 (GRCm39) |
V166G |
probably benign |
Het |
Gp1bb |
A |
T |
16: 18,439,884 (GRCm39) |
L70Q |
probably damaging |
Het |
Gtf2i |
T |
C |
5: 134,275,415 (GRCm39) |
T707A |
probably benign |
Het |
Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
Kynu |
T |
A |
2: 43,479,469 (GRCm39) |
M121K |
probably damaging |
Het |
Ldb3 |
A |
G |
14: 34,299,090 (GRCm39) |
V178A |
probably benign |
Het |
Lrrc31 |
A |
G |
3: 30,735,226 (GRCm39) |
L350P |
probably damaging |
Het |
Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
Mrps23 |
C |
T |
11: 88,100,998 (GRCm39) |
T121M |
probably damaging |
Het |
Nlrp4c |
T |
A |
7: 6,068,801 (GRCm39) |
V234E |
probably benign |
Het |
Or51f1e |
T |
C |
7: 102,747,343 (GRCm39) |
Y132H |
probably damaging |
Het |
Pign |
A |
T |
1: 105,485,212 (GRCm39) |
D782E |
probably damaging |
Het |
Rab11b |
C |
A |
17: 33,968,026 (GRCm39) |
R82L |
possibly damaging |
Het |
Sema3c |
T |
C |
5: 17,858,828 (GRCm39) |
S76P |
probably damaging |
Het |
Slc28a2b |
T |
A |
2: 122,354,012 (GRCm39) |
I546N |
probably damaging |
Het |
Sobp |
T |
C |
10: 42,897,944 (GRCm39) |
N547S |
probably benign |
Het |
Tigd3 |
G |
A |
19: 5,942,836 (GRCm39) |
T98M |
probably damaging |
Het |
Vmn1r158 |
T |
A |
7: 22,490,065 (GRCm39) |
Q48L |
probably benign |
Het |
Vps8 |
A |
G |
16: 21,462,883 (GRCm39) |
T1383A |
probably benign |
Het |
Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
Zfp108 |
C |
T |
7: 23,960,195 (GRCm39) |
T262I |
probably benign |
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 |
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 |
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'- GCTATCAATGCCTGATTTTGACAAC -3'
(R):5'- AATGACTCCTCAGCTCACCG -3'
Sequencing Primer
(F):5'- CAATGCCTGATTTTGACAACTTACC -3'
(R):5'- TAACCAAATGCCAGTGACTGTCTC -3'
|
Posted On |
2022-10-06 |