Incidental Mutation 'R2345:Tox2'
| ID |
245970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tox2
|
| Ensembl Gene |
ENSMUSG00000074607 |
| Gene Name |
TOX high mobility group box family member 2 |
| Synonyms |
LOC269389, RxHMG1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2345 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
163045047-163166092 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 163161518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 348
(Y348H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099110]
[ENSMUST00000109428]
[ENSMUST00000165937]
|
| AlphaFold |
A2A472 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099110
AA Change: Y348H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096710
Gene: ENSMUSG00000074607
AA Change: Y348H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
20 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
248 |
N/A |
INTRINSIC |
|
HMG
|
287 |
357 |
1.44e-18 |
SMART |
|
low complexity region
|
424 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
524 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109428
AA Change: Y306H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105055
Gene: ENSMUSG00000074607
AA Change: Y306H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
|
HMG
|
245 |
315 |
1.44e-18 |
SMART |
|
low complexity region
|
382 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
482 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148599
|
| SMART Domains |
Protein: ENSMUSP00000118219
Gene: ENSMUSG00000074607
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
136 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165937
AA Change: Y313H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126243
Gene: ENSMUSG00000074607
AA Change: Y313H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
|
HMG
|
252 |
322 |
1.44e-18 |
SMART |
|
low complexity region
|
389 |
416 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
489 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.5708 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn3 |
A |
T |
12: 101,914,580 (GRCm39) |
M48K |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,210,740 (GRCm39) |
E638G |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Ceacam3 |
T |
G |
7: 16,888,925 (GRCm39) |
D231E |
possibly damaging |
Het |
| Ckb |
G |
A |
12: 111,638,238 (GRCm39) |
T52I |
probably damaging |
Het |
| Elac2 |
T |
C |
11: 64,891,900 (GRCm39) |
M773T |
probably damaging |
Het |
| Fbxw8 |
A |
T |
5: 118,203,872 (GRCm39) |
|
probably benign |
Het |
| Hk3 |
T |
C |
13: 55,156,806 (GRCm39) |
D582G |
probably damaging |
Het |
| Htt |
T |
A |
5: 34,983,348 (GRCm39) |
N982K |
possibly damaging |
Het |
| Jag2 |
T |
C |
12: 112,872,684 (GRCm39) |
E1190G |
probably damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,047,370 (GRCm39) |
E90G |
probably damaging |
Het |
| Kynu |
A |
C |
2: 43,471,397 (GRCm39) |
Y71S |
probably damaging |
Het |
| Lonrf1 |
A |
T |
8: 36,690,016 (GRCm39) |
|
probably null |
Het |
| Mfsd4b3-ps |
T |
A |
10: 39,824,069 (GRCm39) |
M64L |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,992,700 (GRCm39) |
F302Y |
probably damaging |
Het |
| Ndst4 |
T |
C |
3: 125,501,769 (GRCm39) |
S111P |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or1f19 |
G |
A |
16: 3,411,003 (GRCm39) |
V248M |
probably damaging |
Het |
| Or5m8 |
A |
G |
2: 85,822,166 (GRCm39) |
T2A |
probably benign |
Het |
| Or8b57 |
T |
G |
9: 40,003,849 (GRCm39) |
I138L |
probably benign |
Het |
| Phf3 |
G |
T |
1: 30,844,432 (GRCm39) |
S1509* |
probably null |
Het |
| Plekhh1 |
A |
T |
12: 79,100,421 (GRCm39) |
I130F |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,238,594 (GRCm39) |
F1953S |
unknown |
Het |
| Togaram1 |
T |
A |
12: 65,055,406 (GRCm39) |
S1466T |
probably benign |
Het |
| Vmn2r129 |
T |
A |
4: 156,689,334 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr90 |
G |
T |
17: 26,078,136 (GRCm39) |
H411N |
probably benign |
Het |
| Yme1l1 |
C |
T |
2: 23,084,798 (GRCm39) |
T632I |
probably damaging |
Het |
|
| Other mutations in Tox2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01444:Tox2
|
APN |
2 |
163,067,386 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01891:Tox2
|
APN |
2 |
163,164,903 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02190:Tox2
|
APN |
2 |
163,164,926 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02576:Tox2
|
APN |
2 |
163,118,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0881:Tox2
|
UTSW |
2 |
163,163,365 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1739:Tox2
|
UTSW |
2 |
163,089,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1742:Tox2
|
UTSW |
2 |
163,067,446 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1900:Tox2
|
UTSW |
2 |
163,118,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Tox2
|
UTSW |
2 |
163,067,476 (GRCm39) |
missense |
probably benign |
|
|
R2842:Tox2
|
UTSW |
2 |
163,046,550 (GRCm39) |
intron |
probably benign |
|
|
R3753:Tox2
|
UTSW |
2 |
163,156,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4614:Tox2
|
UTSW |
2 |
163,162,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4615:Tox2
|
UTSW |
2 |
163,162,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4616:Tox2
|
UTSW |
2 |
163,162,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Tox2
|
UTSW |
2 |
163,162,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4625:Tox2
|
UTSW |
2 |
163,156,336 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5410:Tox2
|
UTSW |
2 |
163,162,293 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5493:Tox2
|
UTSW |
2 |
163,046,649 (GRCm39) |
nonsense |
probably null |
|
|
R6731:Tox2
|
UTSW |
2 |
163,162,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6965:Tox2
|
UTSW |
2 |
163,164,930 (GRCm39) |
makesense |
probably null |
|
|
R7038:Tox2
|
UTSW |
2 |
163,156,264 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7078:Tox2
|
UTSW |
2 |
163,162,501 (GRCm39) |
missense |
|
|
|
R7422:Tox2
|
UTSW |
2 |
163,163,435 (GRCm39) |
missense |
|
|
|
R7577:Tox2
|
UTSW |
2 |
163,157,822 (GRCm39) |
nonsense |
probably null |
|
|
R7829:Tox2
|
UTSW |
2 |
163,162,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8356:Tox2
|
UTSW |
2 |
163,046,550 (GRCm39) |
missense |
unknown |
|
|
R8456:Tox2
|
UTSW |
2 |
163,046,550 (GRCm39) |
missense |
unknown |
|
|
R8754:Tox2
|
UTSW |
2 |
163,163,360 (GRCm39) |
missense |
|
|
|
R9085:Tox2
|
UTSW |
2 |
163,067,481 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9153:Tox2
|
UTSW |
2 |
163,045,091 (GRCm39) |
missense |
|
|
|
R9526:Tox2
|
UTSW |
2 |
163,164,930 (GRCm39) |
makesense |
probably null |
|
|
RF011:Tox2
|
UTSW |
2 |
163,067,484 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAATGCTCTCAAAAGAACTGG -3'
(R):5'- CAATCCCATGCTCACTGCTG -3'
Sequencing Primer
(F):5'- CTCTCAAAAGAACTGGGCCAGTG -3'
(R):5'- ATGCTCACTGCTGGGGTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation