Incidental Mutation 'R1139:Tox3'
| ID |
95384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tox3
|
| Ensembl Gene |
ENSMUSG00000043668 |
| Gene Name |
TOX high mobility group box family member 3 |
| Synonyms |
CAGF9, 500-9, Tnrc9 |
| MMRRC Submission |
039212-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.873)
|
| Stock # |
R1139 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
90973668-91074971 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90975497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 378
(L378P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109621]
[ENSMUST00000176616]
|
| AlphaFold |
Q80W03 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109621
AA Change: L378P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105250
Gene: ENSMUSG00000043668
AA Change: L378P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
214 |
N/A |
INTRINSIC |
|
HMG
|
253 |
323 |
2.93e-19 |
SMART |
|
low complexity region
|
345 |
362 |
N/A |
INTRINSIC |
|
coiled coil region
|
438 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
573 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176616
|
| SMART Domains |
Protein: ENSMUSP00000135697
Gene: ENSMUSG00000043668
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
213 |
N/A |
INTRINSIC |
|
HMG
|
252 |
309 |
1.29e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.2%
|
| 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 an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
G |
A |
11: 58,179,112 (GRCm39) |
V149M |
probably damaging |
Het |
| Abcc4 |
A |
G |
14: 118,738,252 (GRCm39) |
M1166T |
possibly damaging |
Het |
| Adgra3 |
A |
T |
5: 50,119,097 (GRCm39) |
|
probably null |
Het |
| Alox12b |
A |
T |
11: 69,055,231 (GRCm39) |
Q334L |
probably damaging |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Bod1l |
A |
T |
5: 41,988,814 (GRCm39) |
M431K |
possibly damaging |
Het |
| Ckap5 |
A |
G |
2: 91,411,488 (GRCm39) |
N966D |
probably benign |
Het |
| Csmd3 |
C |
G |
15: 47,559,232 (GRCm39) |
D2240H |
probably damaging |
Het |
| Erbin |
A |
G |
13: 104,020,761 (GRCm39) |
F66S |
probably damaging |
Het |
| Mrgprh |
A |
T |
17: 13,095,829 (GRCm39) |
N23I |
probably benign |
Het |
| Mst1r |
G |
T |
9: 107,797,168 (GRCm39) |
D1346Y |
possibly damaging |
Het |
| Nfe2l2 |
A |
G |
2: 75,507,230 (GRCm39) |
M290T |
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or52n20 |
A |
G |
7: 104,320,098 (GRCm39) |
Y63C |
probably damaging |
Het |
| Or56a3b |
A |
G |
7: 104,771,180 (GRCm39) |
Y172C |
probably damaging |
Het |
| Or9k7 |
T |
C |
10: 130,046,948 (GRCm39) |
H17R |
possibly damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Rpgrip1 |
A |
C |
14: 52,384,678 (GRCm39) |
E757D |
probably benign |
Het |
| Scn9a |
T |
G |
2: 66,335,341 (GRCm39) |
K1207T |
probably benign |
Het |
| Spata31e2 |
T |
G |
1: 26,721,746 (GRCm39) |
I1145L |
probably benign |
Het |
| Ssb |
A |
G |
2: 69,696,920 (GRCm39) |
T87A |
possibly damaging |
Het |
| Tfdp1 |
C |
T |
8: 13,423,000 (GRCm39) |
R302C |
probably benign |
Het |
| Thbs4 |
T |
C |
13: 92,911,226 (GRCm39) |
Y319C |
probably damaging |
Het |
| Tiam2 |
C |
A |
17: 3,527,542 (GRCm39) |
Q67K |
possibly damaging |
Het |
| Vcpip1 |
A |
T |
1: 9,816,948 (GRCm39) |
H478Q |
probably damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,294,052 (GRCm39) |
I713T |
possibly damaging |
Het |
|
| Other mutations in Tox3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00948:Tox3
|
APN |
8 |
90,997,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02417:Tox3
|
APN |
8 |
90,984,759 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02447:Tox3
|
APN |
8 |
90,984,781 (GRCm39) |
splice site |
probably benign |
|
|
R1472:Tox3
|
UTSW |
8 |
90,980,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1892:Tox3
|
UTSW |
8 |
90,996,869 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1906:Tox3
|
UTSW |
8 |
90,975,057 (GRCm39) |
unclassified |
probably benign |
|
|
R2847:Tox3
|
UTSW |
8 |
90,975,018 (GRCm39) |
nonsense |
probably null |
|
|
R2849:Tox3
|
UTSW |
8 |
90,975,018 (GRCm39) |
nonsense |
probably null |
|
|
R3703:Tox3
|
UTSW |
8 |
90,975,533 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3705:Tox3
|
UTSW |
8 |
90,975,533 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4984:Tox3
|
UTSW |
8 |
90,975,270 (GRCm39) |
unclassified |
probably benign |
|
|
R5249:Tox3
|
UTSW |
8 |
90,975,444 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5722:Tox3
|
UTSW |
8 |
91,074,489 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6291:Tox3
|
UTSW |
8 |
90,975,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6451:Tox3
|
UTSW |
8 |
90,984,687 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7653:Tox3
|
UTSW |
8 |
90,975,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Tox3
|
UTSW |
8 |
90,975,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8220:Tox3
|
UTSW |
8 |
90,984,708 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8337:Tox3
|
UTSW |
8 |
91,074,507 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8387:Tox3
|
UTSW |
8 |
90,984,595 (GRCm39) |
missense |
probably benign |
|
|
R8525:Tox3
|
UTSW |
8 |
91,001,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8951:Tox3
|
UTSW |
8 |
91,074,543 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9029:Tox3
|
UTSW |
8 |
90,996,864 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9182:Tox3
|
UTSW |
8 |
90,984,507 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9645:Tox3
|
UTSW |
8 |
90,984,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9790:Tox3
|
UTSW |
8 |
90,975,206 (GRCm39) |
missense |
unknown |
|
|
R9791:Tox3
|
UTSW |
8 |
90,975,206 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACTGCATCTGATGCTGCTG -3'
(R):5'- AGGGACCAAGCAAAGGCTTCAC -3'
Sequencing Primer
(F):5'- GCTGGGTTTGCACCGAAG -3'
(R):5'- GTTTCGACAGTCCTATGGCAAAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation