Incidental Mutation 'IGL01359:Tox'
| ID |
75674 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tox
|
| Ensembl Gene |
ENSMUSG00000041272 |
| Gene Name |
thymocyte selection-associated high mobility group box |
| Synonyms |
1700007F02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01359
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
6686353-6991557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6697583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 407
(T407A)
|
| 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: T407A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037966
Gene: ENSMUSG00000041272
AA Change: T407A
| 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: ENSMUST00000137749
|
| Coding Region Coverage |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
G |
A |
17: 43,621,577 (GRCm39) |
E605K |
probably damaging |
Het |
| Adgrl4 |
G |
A |
3: 151,248,923 (GRCm39) |
C737Y |
probably damaging |
Het |
| Ankk1 |
A |
T |
9: 49,327,328 (GRCm39) |
I617N |
possibly damaging |
Het |
| B3gat2 |
T |
C |
1: 23,802,301 (GRCm39) |
F196L |
probably damaging |
Het |
| Bcl2l14 |
T |
A |
6: 134,400,828 (GRCm39) |
I83N |
probably damaging |
Het |
| Bcr |
T |
C |
10: 74,995,611 (GRCm39) |
|
probably benign |
Het |
| Ckmt2 |
A |
T |
13: 92,009,939 (GRCm39) |
I127N |
probably damaging |
Het |
| Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
| Dnah11 |
T |
C |
12: 117,946,734 (GRCm39) |
T3117A |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,642,614 (GRCm39) |
Y405C |
probably benign |
Het |
| Emc2 |
A |
G |
15: 43,375,145 (GRCm39) |
Y214C |
probably damaging |
Het |
| Fbxw2 |
T |
C |
2: 34,712,762 (GRCm39) |
T100A |
probably benign |
Het |
| Fkrp |
C |
T |
7: 16,545,415 (GRCm39) |
R149Q |
probably benign |
Het |
| Fsd1l |
A |
G |
4: 53,659,601 (GRCm39) |
R153G |
possibly damaging |
Het |
| Galnt4 |
T |
C |
10: 98,945,459 (GRCm39) |
Y395H |
probably damaging |
Het |
| Gk5 |
T |
C |
9: 96,019,842 (GRCm39) |
L126P |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,669,438 (GRCm39) |
S830G |
probably benign |
Het |
| Gpc5 |
G |
A |
14: 115,607,162 (GRCm39) |
G255S |
possibly damaging |
Het |
| Grk3 |
C |
A |
5: 113,085,626 (GRCm39) |
S370I |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,346,550 (GRCm39) |
D1972G |
probably benign |
Het |
| Itih3 |
T |
A |
14: 30,639,729 (GRCm39) |
D364V |
probably damaging |
Het |
| Lce1f |
G |
T |
3: 92,626,491 (GRCm39) |
C55* |
probably null |
Het |
| Ltn1 |
A |
C |
16: 87,202,581 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,315 (GRCm39) |
A8V |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,743,686 (GRCm39) |
E3974G |
probably benign |
Het |
| Msl3l2 |
T |
C |
10: 55,992,340 (GRCm39) |
V355A |
probably damaging |
Het |
| Nadsyn1 |
T |
C |
7: 143,374,967 (GRCm39) |
I30V |
possibly damaging |
Het |
| Nuggc |
T |
C |
14: 65,860,656 (GRCm39) |
V418A |
probably damaging |
Het |
| Or4f57 |
A |
T |
2: 111,791,406 (GRCm39) |
M4K |
probably benign |
Het |
| Or52e8 |
T |
C |
7: 104,625,193 (GRCm39) |
|
probably null |
Het |
| Or52m2 |
A |
T |
7: 102,263,379 (GRCm39) |
H272Q |
probably benign |
Het |
| Ppp4r3a |
T |
C |
12: 101,024,755 (GRCm39) |
E248G |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,971,067 (GRCm39) |
V234E |
probably damaging |
Het |
| Radil |
G |
A |
5: 142,529,468 (GRCm39) |
T105I |
probably damaging |
Het |
| Saa4 |
A |
G |
7: 46,381,060 (GRCm39) |
W21R |
possibly damaging |
Het |
| Sec62 |
G |
A |
3: 30,868,455 (GRCm39) |
S228N |
unknown |
Het |
| Setd4 |
C |
T |
16: 93,388,127 (GRCm39) |
G120S |
probably damaging |
Het |
| Sgpl1 |
G |
A |
10: 60,936,687 (GRCm39) |
T556I |
probably benign |
Het |
| Slc14a2 |
T |
C |
18: 78,197,323 (GRCm39) |
D811G |
probably benign |
Het |
| Slc26a11 |
A |
T |
11: 119,254,257 (GRCm39) |
M192L |
probably benign |
Het |
| Spon1 |
A |
T |
7: 113,633,525 (GRCm39) |
Q656L |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,071,926 (GRCm39) |
D2491G |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 37,973,250 (GRCm39) |
I2611N |
probably damaging |
Het |
| Usp25 |
G |
A |
16: 76,856,141 (GRCm39) |
A245T |
probably damaging |
Het |
| Vwa8 |
C |
A |
14: 79,302,353 (GRCm39) |
Y1007* |
probably null |
Het |
| Zfp423 |
T |
C |
8: 88,507,290 (GRCm39) |
H893R |
probably damaging |
Het |
| Zfp507 |
A |
G |
7: 35,493,927 (GRCm39) |
I372T |
probably damaging |
Het |
|
| Other mutations in Tox |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation