Incidental Mutation 'IGL02417:Tox3'
ID |
292507 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tox3
|
Ensembl Gene |
ENSMUSG00000043668 |
Gene Name |
TOX high mobility group box family member 3 |
Synonyms |
CAGF9, 500-9, Tnrc9 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.874)
|
Stock # |
IGL02417
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
90973668-91074971 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 90984759 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 140
(T140K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105250
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109621]
[ENSMUST00000176034]
[ENSMUST00000176616]
|
AlphaFold |
Q80W03 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109621
AA Change: T140K
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000105250 Gene: ENSMUSG00000043668 AA Change: T140K
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: ENSMUST00000176034
AA Change: T118K
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000134931 Gene: ENSMUSG00000043668 AA Change: T118K
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176616
AA Change: T139K
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000135697 Gene: ENSMUSG00000043668 AA Change: T139K
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 |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap5 |
T |
A |
12: 52,565,136 (GRCm39) |
N702K |
probably damaging |
Het |
Atm |
T |
C |
9: 53,390,995 (GRCm39) |
T1860A |
probably benign |
Het |
Bicdl1 |
A |
T |
5: 115,811,217 (GRCm39) |
H231Q |
probably damaging |
Het |
C2cd5 |
A |
C |
6: 142,987,218 (GRCm39) |
D470E |
probably damaging |
Het |
Chd5 |
T |
C |
4: 152,451,751 (GRCm39) |
F688L |
probably damaging |
Het |
Cul3 |
T |
C |
1: 80,300,619 (GRCm39) |
Y74C |
probably damaging |
Het |
Dhx16 |
A |
G |
17: 36,203,429 (GRCm39) |
E1042G |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,020,915 (GRCm39) |
L1966P |
probably damaging |
Het |
Dpy19l1 |
A |
T |
9: 24,386,682 (GRCm39) |
I204N |
possibly damaging |
Het |
Drd2 |
T |
C |
9: 49,313,559 (GRCm39) |
|
probably benign |
Het |
Fasn |
A |
G |
11: 120,711,166 (GRCm39) |
V228A |
probably damaging |
Het |
Fggy |
T |
C |
4: 95,737,846 (GRCm39) |
W148R |
probably benign |
Het |
Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
Gpr89 |
A |
T |
3: 96,804,741 (GRCm39) |
Y38* |
probably null |
Het |
H2-M1 |
G |
A |
17: 36,983,026 (GRCm39) |
H22Y |
possibly damaging |
Het |
Kdm3b |
T |
A |
18: 34,941,630 (GRCm39) |
S574T |
probably benign |
Het |
Kmt2c |
C |
T |
5: 25,578,018 (GRCm39) |
V753I |
probably benign |
Het |
Lcn9 |
T |
C |
2: 25,713,692 (GRCm39) |
F73L |
possibly damaging |
Het |
Lnpep |
T |
C |
17: 17,765,165 (GRCm39) |
T762A |
possibly damaging |
Het |
Lrp2 |
C |
T |
2: 69,291,649 (GRCm39) |
C3510Y |
probably damaging |
Het |
Nlrp3 |
T |
A |
11: 59,456,849 (GRCm39) |
|
probably benign |
Het |
Or14c39 |
A |
G |
7: 86,344,027 (GRCm39) |
Y121C |
probably damaging |
Het |
Or1j18 |
A |
T |
2: 36,624,356 (GRCm39) |
I8F |
probably benign |
Het |
Or5b3 |
A |
G |
19: 13,388,259 (GRCm39) |
T109A |
possibly damaging |
Het |
Pcnx3 |
A |
T |
19: 5,736,509 (GRCm39) |
V176E |
possibly damaging |
Het |
Phlpp1 |
T |
C |
1: 106,320,444 (GRCm39) |
S1480P |
probably benign |
Het |
Ppfia3 |
T |
C |
7: 44,991,141 (GRCm39) |
R1027G |
probably damaging |
Het |
Rnf216 |
A |
G |
5: 143,054,665 (GRCm39) |
Y628H |
possibly damaging |
Het |
Sh3bp1 |
G |
A |
15: 78,785,699 (GRCm39) |
R4Q |
probably damaging |
Het |
Skint9 |
A |
G |
4: 112,271,335 (GRCm39) |
|
probably benign |
Het |
Slc25a51 |
A |
G |
4: 45,400,074 (GRCm39) |
S39P |
probably benign |
Het |
Smarca4 |
C |
T |
9: 21,612,386 (GRCm39) |
R1558C |
probably damaging |
Het |
Spag9 |
A |
G |
11: 94,007,567 (GRCm39) |
S1224G |
probably benign |
Het |
Spdl1 |
G |
T |
11: 34,704,181 (GRCm39) |
Q551K |
probably benign |
Het |
Sugt1 |
A |
G |
14: 79,847,698 (GRCm39) |
I183V |
probably benign |
Het |
Th |
G |
A |
7: 142,453,643 (GRCm39) |
S19L |
probably damaging |
Het |
Tmprss11g |
A |
G |
5: 86,638,750 (GRCm39) |
V246A |
probably benign |
Het |
Tnfaip8l2 |
T |
C |
3: 95,047,714 (GRCm39) |
T50A |
probably benign |
Het |
Unc50 |
T |
A |
1: 37,476,531 (GRCm39) |
Y205* |
probably null |
Het |
Vmn2r83 |
A |
T |
10: 79,314,881 (GRCm39) |
K376N |
probably benign |
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 |
IGL02447:Tox3
|
APN |
8 |
90,984,781 (GRCm39) |
splice site |
probably benign |
|
R1139:Tox3
|
UTSW |
8 |
90,975,497 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
|
Posted On |
2015-04-16 |