Incidental Mutation 'R4984:Tox3'
ID |
385791 |
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 |
042578-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.873)
|
Stock # |
R4984 (G1)
|
Quality Score |
102 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
90973668-91074971 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
TCTGCTGCTGCTGCTGCTG to TCTGCTGCTGCTGCTG
at 90975270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135697
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109621]
[ENSMUST00000176616]
|
AlphaFold |
Q80W03 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109621
|
SMART Domains |
Protein: ENSMUSP00000105250 Gene: ENSMUSG00000043668
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: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.4%
|
Validation Efficiency |
98% (41/42) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adra2a |
T |
C |
19: 54,035,070 (GRCm39) |
I142T |
probably damaging |
Het |
Cd109 |
T |
C |
9: 78,541,959 (GRCm39) |
|
probably null |
Het |
Cdc42bpg |
T |
A |
19: 6,366,253 (GRCm39) |
I812N |
possibly damaging |
Het |
Cftr |
A |
G |
6: 18,235,198 (GRCm39) |
E479G |
possibly damaging |
Het |
Cimap3 |
T |
A |
3: 105,908,810 (GRCm39) |
|
probably benign |
Het |
Cpb1 |
GTTT |
GTT |
3: 20,324,516 (GRCm39) |
|
probably null |
Het |
Crocc |
T |
C |
4: 140,761,763 (GRCm39) |
E873G |
probably damaging |
Het |
Dnah3 |
C |
T |
7: 119,528,002 (GRCm39) |
V3827I |
probably benign |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
E230001N04Rik |
T |
C |
17: 28,742,780 (GRCm39) |
|
noncoding transcript |
Het |
Gpr89 |
T |
A |
3: 96,812,512 (GRCm39) |
M10L |
probably benign |
Het |
Kbtbd7 |
T |
C |
14: 79,664,602 (GRCm39) |
Y145H |
probably damaging |
Het |
Kcnh8 |
T |
A |
17: 53,184,995 (GRCm39) |
Y426N |
probably damaging |
Het |
Mipep |
A |
G |
14: 61,025,631 (GRCm39) |
D129G |
possibly damaging |
Het |
Muc15 |
C |
T |
2: 110,561,918 (GRCm39) |
P118L |
probably damaging |
Het |
Mug1 |
T |
C |
6: 121,815,576 (GRCm39) |
|
probably benign |
Het |
Nubp1 |
T |
A |
16: 10,239,108 (GRCm39) |
D208E |
probably damaging |
Het |
Or4a47 |
A |
T |
2: 89,666,157 (GRCm39) |
V44D |
probably damaging |
Het |
Or4k40 |
A |
T |
2: 111,251,192 (GRCm39) |
Y35N |
probably damaging |
Het |
Or4p4 |
A |
G |
2: 88,242,921 (GRCm39) |
L27P |
probably damaging |
Het |
Or52h9 |
T |
G |
7: 104,202,228 (GRCm39) |
I34S |
probably benign |
Het |
Or8g2 |
A |
G |
9: 39,821,906 (GRCm39) |
D269G |
probably benign |
Het |
Pdcd5 |
A |
C |
7: 35,342,110 (GRCm39) |
V166G |
probably damaging |
Het |
Pde4d |
T |
C |
13: 109,876,998 (GRCm39) |
L173P |
probably damaging |
Het |
Phldb2 |
T |
C |
16: 45,645,996 (GRCm39) |
Y195C |
probably damaging |
Het |
Pou4f1 |
T |
C |
14: 104,703,619 (GRCm39) |
E271G |
unknown |
Het |
Ppl |
T |
C |
16: 4,905,505 (GRCm39) |
I1597V |
probably benign |
Het |
Pramel17 |
G |
C |
4: 101,692,796 (GRCm39) |
N401K |
possibly damaging |
Het |
Sorl1 |
C |
A |
9: 41,902,638 (GRCm39) |
D1640Y |
probably damaging |
Het |
Taf4b |
T |
C |
18: 14,968,873 (GRCm39) |
L670P |
probably damaging |
Het |
Ttc39b |
A |
T |
4: 83,160,446 (GRCm39) |
I377K |
probably benign |
Het |
Ttll3 |
A |
G |
6: 113,389,901 (GRCm39) |
D762G |
probably benign |
Het |
Ubp1 |
T |
A |
9: 113,788,460 (GRCm39) |
I279K |
probably damaging |
Het |
Vmn2r93 |
T |
A |
17: 18,533,389 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
C |
T |
5: 102,090,985 (GRCm39) |
D532N |
probably benign |
Het |
Zfp644 |
A |
T |
5: 106,784,783 (GRCm39) |
L588Q |
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 |
|
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 |
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'- AGTTGCTGCAGCTGGAGATG -3'
(R):5'- ACTCCCTAGGTCAATTGCCC -3'
Sequencing Primer
(F):5'- AGCTGGAGATGCTGCTGC -3'
(R):5'- TGAGCCAGATCGTCACATCAGTC -3'
|
Posted On |
2016-05-10 |