Incidental Mutation 'R4635:Tox'
ID |
384563 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tox
|
Ensembl Gene |
ENSMUSG00000041272 |
Gene Name |
thymocyte selection-associated high mobility group box |
Synonyms |
1700007F02Rik |
MMRRC Submission |
041899-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4635 (G1)
|
Quality Score |
62 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
6686353-6991557 bp(-) (GRCm39) |
Type of Mutation |
utr 5 prime |
DNA Base Change (assembly) |
A to T
at 6990501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000037966 Gene: ENSMUSG00000041272
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (39/40) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
T |
5: 8,764,927 (GRCm39) |
K639I |
probably benign |
Het |
Amer3 |
C |
A |
1: 34,626,958 (GRCm39) |
T399K |
probably damaging |
Het |
Arfgef3 |
T |
C |
10: 18,510,603 (GRCm39) |
Y786C |
probably damaging |
Het |
Arhgef26 |
A |
G |
3: 62,247,861 (GRCm39) |
Y315C |
probably damaging |
Het |
Ccdc121 |
G |
A |
5: 31,645,435 (GRCm39) |
R396Q |
probably benign |
Het |
Chchd6 |
T |
C |
6: 89,444,448 (GRCm39) |
E178G |
probably damaging |
Het |
Chd3 |
TGCTGCCGCTGCCGC |
TGCTGCCGCTGCCGCTGCCGC |
11: 69,253,013 (GRCm39) |
|
probably benign |
Het |
Daam1 |
T |
A |
12: 72,005,518 (GRCm39) |
|
probably null |
Het |
Ddx60 |
A |
G |
8: 62,490,101 (GRCm39) |
E1690G |
probably benign |
Het |
Eme2 |
G |
T |
17: 25,113,882 (GRCm39) |
P48T |
probably benign |
Het |
Ferd3l |
T |
C |
12: 33,978,835 (GRCm39) |
M116T |
probably damaging |
Het |
Gm13141 |
GGTTTCTTGATGCCA |
G |
4: 147,612,561 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2i |
T |
C |
5: 134,274,028 (GRCm39) |
N727D |
probably damaging |
Het |
Hao1 |
T |
A |
2: 134,365,072 (GRCm39) |
N185I |
probably damaging |
Het |
Kifap3 |
C |
T |
1: 163,642,004 (GRCm39) |
T195I |
probably damaging |
Het |
Mag |
A |
G |
7: 30,606,348 (GRCm39) |
F363S |
probably damaging |
Het |
Mef2a |
A |
G |
7: 66,890,175 (GRCm39) |
I135T |
possibly damaging |
Het |
Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
Nphs1 |
T |
C |
7: 30,167,432 (GRCm39) |
F787L |
probably benign |
Het |
Nr1h2 |
A |
C |
7: 44,201,961 (GRCm39) |
S42A |
probably benign |
Het |
Odad4 |
C |
T |
11: 100,442,333 (GRCm39) |
Q164* |
probably null |
Het |
Or10ag2 |
T |
A |
2: 87,249,043 (GRCm39) |
M217K |
probably benign |
Het |
Or4a76 |
A |
C |
2: 89,460,516 (GRCm39) |
I242S |
possibly damaging |
Het |
Or51aa2 |
T |
C |
7: 103,188,355 (GRCm39) |
I29V |
probably benign |
Het |
Or5ak23 |
T |
A |
2: 85,245,208 (GRCm39) |
N5I |
probably damaging |
Het |
Rab38 |
T |
C |
7: 88,099,854 (GRCm39) |
V123A |
probably damaging |
Het |
Scd1 |
T |
C |
19: 44,395,024 (GRCm39) |
Y67C |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,358,051 (GRCm39) |
N730S |
possibly damaging |
Het |
Shc2 |
C |
T |
10: 79,462,120 (GRCm39) |
C341Y |
probably benign |
Het |
Tfdp2 |
T |
A |
9: 96,179,727 (GRCm39) |
N113K |
probably damaging |
Het |
Tmc3 |
A |
G |
7: 83,234,290 (GRCm39) |
|
probably benign |
Het |
Top6bl |
A |
G |
19: 4,748,524 (GRCm39) |
|
probably benign |
Het |
Tspoap1 |
A |
G |
11: 87,668,683 (GRCm39) |
K1319E |
probably benign |
Het |
Vit |
G |
A |
17: 78,881,641 (GRCm39) |
V135I |
probably benign |
Het |
Vwa5b1 |
T |
G |
4: 138,338,150 (GRCm39) |
S71R |
possibly 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 |
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 |
PCR Primer
(F):5'- TATTTACTACCCGAGCGCACG -3'
(R):5'- AGTTGAGCGCTTTTCCACC -3'
Sequencing Primer
(F):5'- CATCGCGGTCCAGCCAC -3'
(R):5'- GAGCGCTTTTCCACCCTCTG -3'
|
Posted On |
2016-04-29 |