Incidental Mutation 'IGL02190:Tox2'
| ID |
283829 |
| 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 # |
IGL02190
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
163045047-163166092 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 163164926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 522
(R522H)
|
| 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: R168H
|
| SMART Domains |
Protein: ENSMUSP00000118219
Gene: ENSMUSG00000074607
AA Change: R168H
| 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: R522H
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126243
Gene: ENSMUSG00000074607
AA Change: R522H
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
T |
C |
5: 129,217,788 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
T |
C |
7: 144,172,620 (GRCm39) |
E521G |
probably benign |
Het |
| As3mt |
A |
T |
19: 46,708,384 (GRCm39) |
I224F |
probably benign |
Het |
| Atp5mf |
C |
A |
5: 145,120,642 (GRCm39) |
|
probably benign |
Het |
| Cacna1h |
A |
G |
17: 25,652,000 (GRCm39) |
V48A |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,208,397 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,800,190 (GRCm39) |
S1838R |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,012,140 (GRCm39) |
R841G |
probably benign |
Het |
| Erbb3 |
A |
T |
10: 128,406,879 (GRCm39) |
|
probably null |
Het |
| Fkbp15 |
G |
T |
4: 62,223,059 (GRCm39) |
P947T |
possibly damaging |
Het |
| Gabpb1 |
A |
G |
2: 126,495,469 (GRCm39) |
|
probably benign |
Het |
| Gcn1 |
G |
T |
5: 115,752,183 (GRCm39) |
V2100L |
probably damaging |
Het |
| Gemin5 |
A |
C |
11: 58,025,668 (GRCm39) |
V977G |
probably damaging |
Het |
| Gpr107 |
T |
A |
2: 31,068,332 (GRCm39) |
Y265N |
probably damaging |
Het |
| Gpx8 |
T |
C |
13: 113,179,843 (GRCm39) |
|
probably benign |
Het |
| H2-Eb2 |
A |
T |
17: 34,553,348 (GRCm39) |
N178I |
probably damaging |
Het |
| Ift172 |
C |
T |
5: 31,411,802 (GRCm39) |
V1587I |
possibly damaging |
Het |
| Lrrc45 |
A |
G |
11: 120,609,334 (GRCm39) |
T398A |
probably damaging |
Het |
| Mmrn1 |
G |
T |
6: 60,964,177 (GRCm39) |
V1059L |
probably benign |
Het |
| Morn5 |
A |
G |
2: 35,969,527 (GRCm39) |
D147G |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,403,488 (GRCm39) |
R847G |
possibly damaging |
Het |
| Nutm1 |
C |
T |
2: 112,079,751 (GRCm39) |
W721* |
probably null |
Het |
| Or1j18 |
T |
C |
2: 36,624,591 (GRCm39) |
L86P |
probably benign |
Het |
| Or2j6 |
T |
C |
7: 139,980,033 (GRCm39) |
|
probably benign |
Het |
| Or5w13 |
A |
G |
2: 87,523,407 (GRCm39) |
M273T |
probably benign |
Het |
| Rgl3 |
A |
G |
9: 21,893,004 (GRCm39) |
F227L |
probably benign |
Het |
| Ropn1l |
G |
T |
15: 31,443,487 (GRCm39) |
L182I |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Scgb1a1 |
A |
T |
19: 9,065,231 (GRCm39) |
L12Q |
probably damaging |
Het |
| Scp2 |
A |
G |
4: 107,944,325 (GRCm39) |
S237P |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,797,962 (GRCm39) |
Q207R |
possibly damaging |
Het |
| Slc16a5 |
A |
G |
11: 115,353,435 (GRCm39) |
M1V |
probably null |
Het |
| Trip12 |
A |
T |
1: 84,743,791 (GRCm39) |
N505K |
probably damaging |
Het |
| Tuba1c |
G |
A |
15: 98,935,870 (GRCm39) |
D444N |
unknown |
Het |
| Vmn1r174 |
A |
G |
7: 23,454,252 (GRCm39) |
E306G |
unknown |
Het |
| Vmn2r111 |
A |
T |
17: 22,789,754 (GRCm39) |
F417L |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,240 (GRCm39) |
M206K |
probably damaging |
Het |
| Vmn2r95 |
G |
T |
17: 18,672,038 (GRCm39) |
A592S |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation