Incidental Mutation 'R6448:Tox'
| ID |
519246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tox
|
| Ensembl Gene |
ENSMUSG00000041272 |
| Gene Name |
thymocyte selection-associated high mobility group box |
| Synonyms |
1700007F02Rik |
| MMRRC Submission |
044584-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6448 (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 G
at 6822975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 114
(D114A)
|
| 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: D114A
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000037966
Gene: ENSMUSG00000041272
AA Change: D114A
| 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 |
0.1080 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
97% (32/33) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
A |
T |
12: 52,564,446 (GRCm39) |
K472N |
probably benign |
Het |
| C2 |
T |
G |
17: 35,082,335 (GRCm39) |
D298A |
possibly damaging |
Het |
| Col16a1 |
T |
G |
4: 129,952,781 (GRCm39) |
L409R |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 70,900,325 (GRCm39) |
E380G |
possibly damaging |
Het |
| Fam111a |
C |
A |
19: 12,565,701 (GRCm39) |
H483Q |
probably benign |
Het |
| Fancc |
C |
T |
13: 63,488,242 (GRCm39) |
R246Q |
probably damaging |
Het |
| Glb1 |
A |
T |
9: 114,263,499 (GRCm39) |
Q256L |
probably damaging |
Het |
| Gm9195 |
A |
T |
14: 72,671,451 (GRCm39) |
D2611E |
possibly damaging |
Het |
| Gsto1 |
C |
T |
19: 47,846,420 (GRCm39) |
T89I |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,310,832 (GRCm39) |
S3359G |
probably benign |
Het |
| Hook3 |
T |
A |
8: 26,583,692 (GRCm39) |
N87I |
probably benign |
Het |
| Htt |
T |
A |
5: 35,033,336 (GRCm39) |
M1868K |
probably benign |
Het |
| Ighv1-19 |
T |
C |
12: 114,672,296 (GRCm39) |
E107G |
probably damaging |
Het |
| Il20rb |
A |
T |
9: 100,356,986 (GRCm39) |
M48K |
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,445,387 (GRCm39) |
H822R |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,431,085 (GRCm39) |
V1161F |
probably damaging |
Het |
| Klhdc2 |
T |
A |
12: 69,350,694 (GRCm39) |
D169E |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,129,389 (GRCm39) |
|
probably null |
Het |
| Myh15 |
T |
G |
16: 48,992,295 (GRCm39) |
S1590A |
probably damaging |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,038,826 (GRCm39) |
D6748G |
probably damaging |
Het |
| Nfrkb |
T |
C |
9: 31,306,085 (GRCm39) |
Y142H |
probably damaging |
Het |
| Or6c208 |
A |
T |
10: 129,224,021 (GRCm39) |
D173V |
probably damaging |
Het |
| Or7a39 |
G |
A |
10: 78,715,516 (GRCm39) |
C170Y |
possibly damaging |
Het |
| Or8k20 |
T |
A |
2: 86,106,691 (GRCm39) |
I47F |
probably benign |
Het |
| Prm2 |
G |
A |
16: 10,609,825 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,766,446 (GRCm39) |
T1283A |
probably benign |
Het |
| Rest |
T |
C |
5: 77,429,318 (GRCm39) |
L579P |
possibly damaging |
Het |
| Slc6a1 |
C |
T |
6: 114,279,047 (GRCm39) |
T46I |
possibly damaging |
Het |
| Tcf20 |
A |
G |
15: 82,736,861 (GRCm39) |
I1530T |
probably benign |
Het |
| Ulk4 |
C |
T |
9: 120,932,696 (GRCm39) |
G1048D |
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 |
|
|
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 |
PCR Primer
(F):5'- CTGTAGCCAAAACTTCTCTCTGG -3'
(R):5'- TCCCGGGGTTTGAACAACTAAG -3'
Sequencing Primer
(F):5'- CAAAACTTCTCTCTGGGTTTAAAAGC -3'
(R):5'- GAAGTGGATGCTAATTATCATCTGTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation