Incidental Mutation 'R5537:Tox'
| ID |
434866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tox
|
| Ensembl Gene |
ENSMUSG00000041272 |
| Gene Name |
thymocyte selection-associated high mobility group box |
| Synonyms |
1700007F02Rik |
| MMRRC Submission |
043095-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5537 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
6686353-6991557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6697510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 431
(L431P)
|
| 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: L431P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037966
Gene: ENSMUSG00000041272
AA Change: L431P
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 9,005,485 (GRCm39) |
I1123F |
probably damaging |
Het |
| Acsl3 |
C |
T |
1: 78,684,073 (GRCm39) |
R702C |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,604,892 (GRCm39) |
E1031G |
probably damaging |
Het |
| Ankle2 |
T |
C |
5: 110,397,361 (GRCm39) |
S536P |
probably damaging |
Het |
| Arfgef2 |
G |
T |
2: 166,698,513 (GRCm39) |
|
probably null |
Het |
| Bahd1 |
G |
T |
2: 118,746,461 (GRCm39) |
D27Y |
probably damaging |
Het |
| Brinp2 |
C |
T |
1: 158,082,583 (GRCm39) |
V246I |
probably damaging |
Het |
| Ccdc187 |
C |
A |
2: 26,166,237 (GRCm39) |
A731S |
probably benign |
Het |
| Cdc37l1 |
T |
A |
19: 28,972,518 (GRCm39) |
N70K |
probably damaging |
Het |
| Cdk5r1 |
A |
G |
11: 80,368,825 (GRCm39) |
Y164C |
probably damaging |
Het |
| Clrn3 |
A |
T |
7: 135,115,791 (GRCm39) |
H186Q |
probably benign |
Het |
| Col12a1 |
G |
A |
9: 79,606,872 (GRCm39) |
T517I |
probably damaging |
Het |
| Crhr1 |
T |
A |
11: 104,054,682 (GRCm39) |
N98K |
possibly damaging |
Het |
| Dst |
C |
T |
1: 34,228,959 (GRCm39) |
S2362L |
probably benign |
Het |
| Eapp |
G |
A |
12: 54,738,844 (GRCm39) |
T98I |
probably benign |
Het |
| Iqsec3 |
T |
C |
6: 121,389,603 (GRCm39) |
|
probably benign |
Het |
| Kctd12 |
A |
G |
14: 103,219,713 (GRCm39) |
V55A |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,292,594 (GRCm39) |
D432G |
probably benign |
Het |
| Mrgprx1 |
T |
A |
7: 47,670,898 (GRCm39) |
H283L |
probably benign |
Het |
| Nlrp4e |
T |
C |
7: 23,019,914 (GRCm39) |
F134L |
probably benign |
Het |
| Or1e34 |
T |
C |
11: 73,778,523 (GRCm39) |
K225R |
probably benign |
Het |
| Or4f14b |
A |
T |
2: 111,775,393 (GRCm39) |
M136K |
probably damaging |
Het |
| Or5m5 |
T |
A |
2: 85,814,570 (GRCm39) |
Y129N |
possibly damaging |
Het |
| Or8b43 |
T |
A |
9: 38,360,538 (GRCm39) |
Y123* |
probably null |
Het |
| Pfkp |
C |
A |
13: 6,669,278 (GRCm39) |
W235L |
probably damaging |
Het |
| Prom1 |
C |
T |
5: 44,158,118 (GRCm39) |
|
probably null |
Het |
| Psma5-ps |
A |
G |
10: 85,149,913 (GRCm39) |
|
noncoding transcript |
Het |
| Rab14 |
A |
T |
2: 35,082,649 (GRCm39) |
F12L |
possibly damaging |
Het |
| Rnf40 |
T |
A |
7: 127,195,261 (GRCm39) |
I429N |
probably benign |
Het |
| S100pbp |
G |
A |
4: 129,075,981 (GRCm39) |
P115S |
probably benign |
Het |
| Scarf1 |
G |
A |
11: 75,416,357 (GRCm39) |
A600T |
probably damaging |
Het |
| Slc6a5 |
T |
C |
7: 49,609,059 (GRCm39) |
F755L |
probably benign |
Het |
| Slc7a2 |
A |
T |
8: 41,367,023 (GRCm39) |
I510F |
probably benign |
Het |
| Spag16 |
T |
C |
1: 69,866,175 (GRCm39) |
S5P |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,061,641 (GRCm39) |
Y631C |
probably damaging |
Het |
| Tmem182 |
A |
T |
1: 40,894,069 (GRCm39) |
I195F |
probably benign |
Het |
| Tprn |
G |
A |
2: 25,153,369 (GRCm39) |
A224T |
probably benign |
Het |
| Tsg101 |
T |
C |
7: 46,540,876 (GRCm39) |
K294E |
probably benign |
Het |
| Tubb2a |
C |
A |
13: 34,259,434 (GRCm39) |
V119L |
probably benign |
Het |
| Vps37d |
C |
T |
5: 135,103,256 (GRCm39) |
E129K |
possibly damaging |
Het |
| Zfp974 |
TAATCTGTCTCCAAATCTG |
TAATCTG |
7: 27,611,671 (GRCm39) |
|
probably benign |
Het |
| Zpld1 |
A |
G |
16: 55,054,003 (GRCm39) |
V263A |
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 |
|
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 |
|
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'- CTGGGCATTGCTCACTATCC -3'
(R):5'- CTCAAAGCCGTCAGTATTCCATG -3'
Sequencing Primer
(F):5'- GGCATTGCTCACTATCCAGCATC -3'
(R):5'- TCAGTATTCCATGGGCCCAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation