Incidental Mutation 'R8387:Tox3'
| ID |
647209 |
| 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 |
067876-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.873)
|
| Stock # |
R8387 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
90973668-91074971 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90984595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 195
(S195P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109621]
[ENSMUST00000176034]
[ENSMUST00000176616]
|
| AlphaFold |
Q80W03 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109621
AA Change: S195P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105250
Gene: ENSMUSG00000043668
AA Change: S195P
| 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: S173P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134931
Gene: ENSMUSG00000043668
AA Change: S173P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176616
AA Change: S194P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135697
Gene: ENSMUSG00000043668
AA Change: S194P
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (46/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
G |
A |
5: 8,874,698 (GRCm39) |
D453N |
probably damaging |
Het |
| Arl14ep |
T |
C |
2: 106,799,562 (GRCm39) |
D93G |
probably damaging |
Het |
| Bcl7b |
T |
C |
5: 135,197,413 (GRCm39) |
I18T |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 107,390,501 (GRCm39) |
I614V |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,281,400 (GRCm39) |
I169V |
probably benign |
Het |
| Cpeb4 |
T |
C |
11: 31,858,877 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
G |
A |
8: 16,050,484 (GRCm39) |
H2251Y |
possibly damaging |
Het |
| Dab2ip |
T |
A |
2: 35,609,870 (GRCm39) |
I695K |
probably damaging |
Het |
| Dhtkd1 |
C |
A |
2: 5,934,479 (GRCm39) |
L230F |
possibly damaging |
Het |
| Emc1 |
T |
C |
4: 139,088,600 (GRCm39) |
S353P |
probably benign |
Het |
| Erc2 |
T |
A |
14: 27,375,253 (GRCm39) |
L157Q |
possibly damaging |
Het |
| Flvcr1 |
A |
G |
1: 190,743,731 (GRCm39) |
|
probably null |
Het |
| Fryl |
A |
C |
5: 73,293,663 (GRCm39) |
|
probably null |
Het |
| Gnl2 |
T |
C |
4: 124,949,127 (GRCm39) |
*729Q |
probably null |
Het |
| Gpr63 |
G |
A |
4: 25,008,301 (GRCm39) |
V342M |
possibly damaging |
Het |
| Guf1 |
C |
T |
5: 69,723,810 (GRCm39) |
P463L |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Ifngr2 |
T |
C |
16: 91,358,535 (GRCm39) |
L245P |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,236,564 (GRCm39) |
F1206L |
probably damaging |
Het |
| Ktn1 |
T |
A |
14: 47,944,744 (GRCm39) |
|
probably null |
Het |
| Lekr1 |
A |
G |
3: 65,591,520 (GRCm39) |
K86E |
possibly damaging |
Het |
| Lrrc3 |
C |
T |
10: 77,737,346 (GRCm39) |
G30D |
possibly damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,344,897 (GRCm39) |
F765L |
probably damaging |
Het |
| Myo6 |
A |
G |
9: 80,183,632 (GRCm39) |
T676A |
unknown |
Het |
| Nr4a1 |
T |
C |
15: 101,171,053 (GRCm39) |
S510P |
probably damaging |
Het |
| Or2o1 |
T |
C |
11: 49,051,497 (GRCm39) |
S219P |
probably damaging |
Het |
| Or4c113 |
T |
C |
2: 88,885,646 (GRCm39) |
I41M |
probably benign |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or51e1 |
C |
T |
7: 102,359,402 (GRCm39) |
T312I |
probably benign |
Het |
| Or5a1 |
A |
G |
19: 12,097,785 (GRCm39) |
L97P |
probably damaging |
Het |
| Pdcd1 |
G |
A |
1: 93,969,193 (GRCm39) |
L42F |
probably damaging |
Het |
| Pdzd7 |
T |
C |
19: 45,018,490 (GRCm39) |
D621G |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pias4 |
G |
A |
10: 80,990,342 (GRCm39) |
R398C |
probably benign |
Het |
| Plekha6 |
A |
T |
1: 133,219,893 (GRCm39) |
|
probably null |
Het |
| Prkag3 |
A |
G |
1: 74,784,854 (GRCm39) |
|
probably null |
Het |
| Ptpn7 |
A |
G |
1: 135,061,606 (GRCm39) |
T23A |
probably benign |
Het |
| Ptprd |
T |
C |
4: 75,873,526 (GRCm39) |
D1069G |
probably damaging |
Het |
| Ptprr |
A |
G |
10: 116,087,030 (GRCm39) |
Y503C |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,866,899 (GRCm39) |
D610G |
probably benign |
Het |
| Smyd4 |
A |
G |
11: 75,292,984 (GRCm39) |
N638S |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,740,883 (GRCm39) |
F1200S |
probably damaging |
Het |
| Trim44 |
T |
C |
2: 102,230,518 (GRCm39) |
E171G |
probably damaging |
Het |
| Vars1 |
T |
A |
17: 35,229,490 (GRCm39) |
M369K |
probably damaging |
Het |
| Vmn2r77 |
C |
A |
7: 86,450,947 (GRCm39) |
Q278K |
probably benign |
Het |
| Zfp345 |
T |
C |
2: 150,314,740 (GRCm39) |
T266A |
probably 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 |
|
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 |
|
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'- TCATCAACTGAAAAGTGTCTCCC -3'
(R):5'- TGTAGGATCAGAGCCACACAC -3'
Sequencing Primer
(F):5'- GGAAGGTGATCCTCCAAATGCC -3'
(R):5'- CAAGTGTCACAGTACCGCCAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation