Incidental Mutation 'IGL01891:Tox2'
ID |
179246 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01891
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
163045047-163166092 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 163164903 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 514
(K514N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126243
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099110]
[ENSMUST00000109428]
[ENSMUST00000165937]
|
AlphaFold |
A2A472 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099110
|
SMART Domains |
Protein: ENSMUSP00000096710 Gene: ENSMUSG00000074607
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 benign
Transcript: ENSMUST00000109428
|
SMART Domains |
Protein: ENSMUSP00000105055 Gene: ENSMUSG00000074607
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 |
unknown
Transcript: ENSMUST00000148599
AA Change: K160N
|
SMART Domains |
Protein: ENSMUSP00000118219 Gene: ENSMUSG00000074607 AA Change: K160N
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 |
possibly damaging
Transcript: ENSMUST00000165937
AA Change: K514N
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000126243 Gene: ENSMUSG00000074607 AA Change: K514N
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acnat2 |
T |
C |
4: 49,383,395 (GRCm39) |
T53A |
probably benign |
Het |
Aoc1 |
A |
G |
6: 48,885,776 (GRCm39) |
|
probably benign |
Het |
Ctsf |
G |
A |
19: 4,906,595 (GRCm39) |
R174Q |
probably damaging |
Het |
Ddo |
T |
C |
10: 40,523,643 (GRCm39) |
V211A |
possibly damaging |
Het |
Ermp1 |
T |
C |
19: 29,594,002 (GRCm39) |
I723V |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
H2-M3 |
T |
G |
17: 37,583,608 (GRCm39) |
I322S |
probably benign |
Het |
Npc1l1 |
T |
C |
11: 6,164,280 (GRCm39) |
T1206A |
probably damaging |
Het |
Pold3 |
A |
T |
7: 99,737,352 (GRCm39) |
|
probably benign |
Het |
Ripor3 |
T |
C |
2: 167,825,071 (GRCm39) |
T813A |
possibly damaging |
Het |
Suco |
T |
C |
1: 161,666,371 (GRCm39) |
N510D |
probably damaging |
Het |
Tas2r120 |
A |
G |
6: 132,634,807 (GRCm39) |
*296W |
probably null |
Het |
Ubr4 |
G |
A |
4: 139,163,571 (GRCm39) |
|
probably null |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Zbtb1 |
T |
A |
12: 76,432,435 (GRCm39) |
F140L |
probably damaging |
Het |
Zc3h14 |
T |
C |
12: 98,725,206 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R2345:Tox2
|
UTSW |
2 |
163,161,518 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2014-05-07 |