Incidental Mutation 'R5630:Tox'
| ID |
442043 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tox
|
| Ensembl Gene |
ENSMUSG00000041272 |
| Gene Name |
thymocyte selection-associated high mobility group box |
| Synonyms |
1700007F02Rik |
| MMRRC Submission |
043281-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5630 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
6686353-6991557 bp(-) (GRCm39) |
| Type of Mutation |
small insertion (2 aa in frame mutation) |
| DNA Base Change (assembly) |
C to CTGGAGT
at 6688835 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: ENSMUST00000125974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137749
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3s2 |
A |
T |
7: 79,559,647 (GRCm39) |
V94E |
probably damaging |
Het |
| Aven |
T |
A |
2: 112,344,890 (GRCm39) |
Y109* |
probably null |
Het |
| Cad |
T |
C |
5: 31,217,917 (GRCm39) |
S401P |
probably damaging |
Het |
| Ccdc122 |
A |
T |
14: 77,330,216 (GRCm39) |
I189F |
probably damaging |
Het |
| Cdkal1 |
A |
T |
13: 29,961,198 (GRCm39) |
|
probably null |
Het |
| Clock |
G |
A |
5: 76,378,185 (GRCm39) |
P572S |
probably benign |
Het |
| Cnih4 |
C |
G |
1: 180,989,748 (GRCm39) |
F120L |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 99,999,794 (GRCm39) |
D184G |
probably damaging |
Het |
| Cpa2 |
T |
A |
6: 30,550,731 (GRCm39) |
|
probably null |
Het |
| Cpne5 |
T |
C |
17: 29,445,190 (GRCm39) |
D38G |
probably damaging |
Het |
| Dst |
GGAATCGTGCACTCGAA |
GGAA |
1: 34,227,866 (GRCm39) |
|
probably null |
Het |
| E330034G19Rik |
A |
G |
14: 24,358,336 (GRCm39) |
|
probably benign |
Het |
| Flrt1 |
A |
T |
19: 7,073,830 (GRCm39) |
I239N |
probably damaging |
Het |
| Foxb1 |
T |
A |
9: 69,667,402 (GRCm39) |
I43F |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,896,971 (GRCm39) |
W310R |
probably damaging |
Het |
| Klrb1a |
A |
T |
6: 128,595,573 (GRCm39) |
D60E |
probably benign |
Het |
| Lbr |
A |
G |
1: 181,644,529 (GRCm39) |
|
probably null |
Het |
| Lsm8 |
T |
A |
6: 18,851,672 (GRCm39) |
I41N |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,577,764 (GRCm39) |
M305V |
possibly damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Or5p4 |
T |
A |
7: 107,680,323 (GRCm39) |
F107L |
probably benign |
Het |
| Or8c10 |
T |
C |
9: 38,279,402 (GRCm39) |
Y177H |
probably damaging |
Het |
| Or8g20 |
T |
A |
9: 39,396,247 (GRCm39) |
M98L |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,208 (GRCm39) |
D196V |
possibly damaging |
Het |
| Pcmt1 |
A |
G |
10: 7,524,857 (GRCm39) |
Y84H |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,587,697 (GRCm39) |
I877K |
probably damaging |
Het |
| Pcsk5 |
A |
G |
19: 17,553,195 (GRCm39) |
Y662H |
probably benign |
Het |
| Prdx1 |
T |
A |
4: 116,556,414 (GRCm39) |
D187E |
probably benign |
Het |
| Ranbp2 |
T |
G |
10: 58,314,898 (GRCm39) |
Y1873D |
probably damaging |
Het |
| Rcor2 |
A |
T |
19: 7,248,416 (GRCm39) |
R144W |
probably damaging |
Het |
| Rptor |
T |
G |
11: 119,647,075 (GRCm39) |
I222S |
probably benign |
Het |
| Rrp8 |
C |
A |
7: 105,382,608 (GRCm39) |
R448L |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,616,691 (GRCm39) |
I3909N |
probably damaging |
Het |
| Scn2a |
T |
G |
2: 65,556,709 (GRCm39) |
V1147G |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Smox |
C |
T |
2: 131,366,786 (GRCm39) |
Q582* |
probably null |
Het |
| Sqor |
T |
A |
2: 122,651,277 (GRCm39) |
L180H |
possibly damaging |
Het |
| Stox2 |
T |
C |
8: 47,644,925 (GRCm39) |
D845G |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,250,102 (GRCm39) |
I469V |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trgc2 |
A |
G |
13: 19,489,279 (GRCm39) |
F151S |
possibly damaging |
Het |
| Upf2 |
T |
C |
2: 6,032,112 (GRCm39) |
V141A |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,615,125 (GRCm39) |
L772P |
probably damaging |
Het |
| Vmn2r83 |
A |
T |
10: 79,327,785 (GRCm39) |
T798S |
possibly damaging |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Zfp143 |
C |
T |
7: 109,687,980 (GRCm39) |
T473I |
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 |
|
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'- AAACATGGAGGCATTTGTTCTTGG -3'
(R):5'- GGTACCGCCTTTTCTCAAATGTAG -3'
Sequencing Primer
(F):5'- AGGCATTTGTTCTTGGAAAGAC -3'
(R):5'- ACCGCCTTTTCTCAAATGTAGATTTG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation