Incidental Mutation 'R8766:Tox'
| ID |
667870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tox
|
| Ensembl Gene |
ENSMUSG00000041272 |
| Gene Name |
thymocyte selection-associated high mobility group box |
| Synonyms |
1700007F02Rik |
| MMRRC Submission |
068600-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8766 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
6686353-6991557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6823047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 90
(E90G)
|
| 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: E90G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037966
Gene: ENSMUSG00000041272
AA Change: E90G
| 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: 99.2%
|
| Validation Efficiency |
100% (49/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr10 |
T |
G |
12: 71,001,430 (GRCm39) |
|
probably null |
Het |
| Amz1 |
A |
G |
5: 140,733,921 (GRCm39) |
N166D |
probably benign |
Het |
| Armh4 |
T |
A |
14: 50,011,497 (GRCm39) |
N70I |
probably damaging |
Het |
| Asah2 |
A |
G |
19: 32,035,280 (GRCm39) |
F15S |
possibly damaging |
Het |
| Axin2 |
A |
G |
11: 108,814,657 (GRCm39) |
M182V |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,002,881 (GRCm39) |
L326P |
probably damaging |
Het |
| Ccdc169 |
T |
C |
3: 55,058,245 (GRCm39) |
|
probably null |
Het |
| Cct8 |
A |
T |
16: 87,285,756 (GRCm39) |
V234D |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,817,844 (GRCm39) |
R633G |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,714,939 (GRCm39) |
|
probably benign |
Het |
| Crat |
G |
A |
2: 30,297,075 (GRCm39) |
P293S |
probably benign |
Het |
| Crybg3 |
G |
A |
16: 59,375,696 (GRCm39) |
R139C |
probably benign |
Het |
| Ctbs |
A |
G |
3: 146,165,588 (GRCm39) |
N301S |
possibly damaging |
Het |
| Cyp4x1 |
T |
C |
4: 114,967,262 (GRCm39) |
H438R |
probably damaging |
Het |
| Dglucy |
C |
A |
12: 100,837,706 (GRCm39) |
H616Q |
probably benign |
Het |
| Dync1i1 |
T |
A |
6: 5,767,142 (GRCm39) |
L74Q |
possibly damaging |
Het |
| Epn1 |
T |
C |
7: 5,095,860 (GRCm39) |
S167P |
possibly damaging |
Het |
| Fbxw28 |
T |
C |
9: 109,155,749 (GRCm39) |
E341G |
probably benign |
Het |
| Gk2 |
T |
A |
5: 97,604,110 (GRCm39) |
M243L |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,300,724 (GRCm39) |
E4D |
probably benign |
Het |
| Hsd17b13 |
T |
C |
5: 104,125,009 (GRCm39) |
K58R |
probably benign |
Het |
| Ighd5-7 |
G |
A |
12: 113,428,148 (GRCm39) |
Q9* |
probably null |
Het |
| Izumo1 |
G |
A |
7: 45,276,496 (GRCm39) |
S353N |
probably benign |
Het |
| Klhl31 |
T |
C |
9: 77,557,445 (GRCm39) |
S54P |
possibly damaging |
Het |
| Lonp2 |
T |
C |
8: 87,363,198 (GRCm39) |
M272T |
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,603,250 (GRCm39) |
C682* |
probably null |
Het |
| Magi2 |
A |
G |
5: 20,400,123 (GRCm39) |
K52E |
probably benign |
Het |
| Nab2 |
C |
T |
10: 127,502,417 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
T |
A |
12: 116,390,356 (GRCm39) |
V435D |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,802,340 (GRCm39) |
D87G |
probably benign |
Het |
| Or10a3 |
A |
G |
7: 108,480,453 (GRCm39) |
M120T |
probably benign |
Het |
| Or9a7 |
T |
C |
6: 40,521,485 (GRCm39) |
M143V |
probably benign |
Het |
| Pamr1 |
T |
C |
2: 102,380,538 (GRCm39) |
M1T |
probably null |
Het |
| Pard3b |
T |
C |
1: 62,198,637 (GRCm39) |
C242R |
probably benign |
Het |
| Pcif1 |
T |
A |
2: 164,727,346 (GRCm39) |
V106E |
probably benign |
Het |
| Pitx2 |
T |
A |
3: 129,012,223 (GRCm39) |
F218I |
probably damaging |
Het |
| Ppip5k1 |
G |
T |
2: 121,166,919 (GRCm39) |
Y877* |
probably null |
Het |
| Prkch |
A |
G |
12: 73,749,312 (GRCm39) |
N354S |
probably benign |
Het |
| Psen2 |
T |
A |
1: 180,073,201 (GRCm39) |
D40V |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,524,021 (GRCm39) |
S404T |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,683,855 (GRCm39) |
T3070S |
probably damaging |
Het |
| Slc24a4 |
A |
G |
12: 102,196,711 (GRCm39) |
D263G |
probably benign |
Het |
| Unc13b |
C |
T |
4: 43,174,722 (GRCm39) |
S1850L |
unknown |
Het |
| Vmn1r5 |
T |
A |
6: 56,963,100 (GRCm39) |
D258E |
possibly damaging |
Het |
| Vmn2r84 |
C |
T |
10: 130,222,241 (GRCm39) |
V660M |
probably damaging |
Het |
| Yju2b |
C |
T |
8: 84,988,423 (GRCm39) |
R68H |
probably damaging |
Het |
| Zfp592 |
A |
T |
7: 80,674,353 (GRCm39) |
H439L |
probably benign |
Het |
| Zfp775 |
A |
T |
6: 48,597,113 (GRCm39) |
H329L |
probably damaging |
Het |
| Zswim5 |
T |
C |
4: 116,816,004 (GRCm39) |
L364P |
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 |
|
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 |
|
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'- GCCATTGCTGTAGCCAAAAC -3'
(R):5'- TCTATTAGGCCGCTGTGTCC -3'
Sequencing Primer
(F):5'- CAGATTGTTGAATAGAGCTGACCC -3'
(R):5'- TCCCGGGGTTTGAACAACTAAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation