Incidental Mutation 'IGL03243:Tox'
| ID |
414312 |
| 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 # |
IGL03243
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
6686353-6991557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6697597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 402
(N402S)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000039987
AA Change: N402S
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000037966
Gene: ENSMUSG00000041272
AA Change: N402S
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
C |
8: 44,021,733 (GRCm39) |
T586A |
probably benign |
Het |
| Agtr1b |
T |
C |
3: 20,369,959 (GRCm39) |
T216A |
probably benign |
Het |
| Ankdd1a |
T |
C |
9: 65,408,752 (GRCm39) |
R505G |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,976,551 (GRCm39) |
|
probably benign |
Het |
| Atp6v1c2 |
C |
T |
12: 17,339,122 (GRCm39) |
V210I |
probably benign |
Het |
| BC034090 |
G |
A |
1: 155,101,401 (GRCm39) |
P288S |
possibly damaging |
Het |
| Catsper2 |
T |
C |
2: 121,237,300 (GRCm39) |
H200R |
probably benign |
Het |
| Ceacam23 |
A |
T |
7: 17,652,574 (GRCm39) |
|
noncoding transcript |
Het |
| Cntnap5c |
G |
T |
17: 58,409,171 (GRCm39) |
A470S |
probably benign |
Het |
| Fcho2 |
G |
A |
13: 98,913,892 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
A |
C |
4: 82,932,206 (GRCm39) |
L165R |
probably damaging |
Het |
| Gpn1 |
G |
A |
5: 31,668,175 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
C |
11: 97,242,301 (GRCm39) |
N181S |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,070,509 (GRCm39) |
|
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,400,238 (GRCm39) |
N333S |
possibly damaging |
Het |
| Lrp5 |
T |
C |
19: 3,680,159 (GRCm39) |
T442A |
probably benign |
Het |
| Myo15a |
G |
T |
11: 60,387,344 (GRCm39) |
L722F |
probably damaging |
Het |
| Nlrp9c |
T |
G |
7: 26,064,457 (GRCm39) |
D957A |
probably damaging |
Het |
| Nup58 |
T |
A |
14: 60,459,065 (GRCm39) |
T521S |
probably benign |
Het |
| Or7e165 |
T |
G |
9: 19,694,564 (GRCm39) |
I45S |
probably damaging |
Het |
| Plek |
C |
A |
11: 16,945,319 (GRCm39) |
V4L |
possibly damaging |
Het |
| Sell |
T |
A |
1: 163,892,911 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,533 (GRCm39) |
I702K |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,133,387 (GRCm39) |
I573V |
probably benign |
Het |
| Tgm1 |
T |
A |
14: 55,943,364 (GRCm39) |
I526F |
probably damaging |
Het |
| Tmem30c |
A |
T |
16: 57,096,513 (GRCm39) |
S203T |
probably benign |
Het |
| Trav7d-4 |
C |
A |
14: 53,007,555 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
A |
T |
11: 115,958,670 (GRCm39) |
V784D |
probably benign |
Het |
| Vmn2r68 |
A |
G |
7: 84,882,963 (GRCm39) |
V263A |
possibly damaging |
Het |
| Zfp385c |
A |
T |
11: 100,525,573 (GRCm39) |
V56D |
probably damaging |
Het |
| Znrf2 |
A |
T |
6: 54,861,754 (GRCm39) |
I222L |
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 |
|
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 |
2016-08-02 |
Incidental Mutation