Incidental Mutation 'R0881:Tox2'
| ID |
80506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tox2
|
| Ensembl Gene |
ENSMUSG00000074607 |
| Gene Name |
TOX high mobility group box family member 2 |
| Synonyms |
LOC269389, RxHMG1 |
| MMRRC Submission |
039048-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0881 (G1)
|
| Quality Score |
123 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
163045047-163166092 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 163163365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 502
(S502T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099110]
[ENSMUST00000109428]
[ENSMUST00000165937]
|
| AlphaFold |
A2A472 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099110
AA Change: S502T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000096710
Gene: ENSMUSG00000074607
AA Change: S502T
| 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
AA Change: S460T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105055
Gene: ENSMUSG00000074607
AA Change: S460T
| 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: S113T
|
| SMART Domains |
Protein: ENSMUSP00000118219
Gene: ENSMUSG00000074607
AA Change: S113T
| 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 benign
Transcript: ENSMUST00000165937
AA Change: S467T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000126243
Gene: ENSMUSG00000074607
AA Change: S467T
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 93.0%
|
| Validation Efficiency |
96% (51/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Abcc9 |
T |
A |
6: 142,592,029 (GRCm39) |
I732F |
probably damaging |
Het |
| Adam10 |
T |
C |
9: 70,653,519 (GRCm39) |
S248P |
probably damaging |
Het |
| Adam18 |
A |
T |
8: 25,162,159 (GRCm39) |
|
probably benign |
Het |
| Angel2 |
G |
A |
1: 190,669,661 (GRCm39) |
E114K |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,808,328 (GRCm39) |
T1169A |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,731,242 (GRCm39) |
M759K |
probably damaging |
Het |
| Atxn2l |
A |
G |
7: 126,095,768 (GRCm39) |
S450P |
probably damaging |
Het |
| B3glct |
T |
A |
5: 149,663,034 (GRCm39) |
V264E |
probably damaging |
Het |
| Bbx |
A |
G |
16: 50,040,963 (GRCm39) |
|
probably benign |
Het |
| Bmp3 |
A |
G |
5: 99,020,461 (GRCm39) |
N295D |
possibly damaging |
Het |
| C9 |
G |
A |
15: 6,488,349 (GRCm39) |
|
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Cdan1 |
A |
T |
2: 120,551,466 (GRCm39) |
V1039E |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,758,665 (GRCm39) |
|
probably null |
Het |
| Ext1 |
A |
G |
15: 53,207,879 (GRCm39) |
L294P |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,816,617 (GRCm39) |
H4117N |
possibly damaging |
Het |
| Itga8 |
C |
T |
2: 12,267,003 (GRCm39) |
|
probably null |
Het |
| Itln1 |
G |
T |
1: 171,360,949 (GRCm39) |
H48N |
probably benign |
Het |
| Kcna5 |
T |
A |
6: 126,511,957 (GRCm39) |
H57L |
probably benign |
Het |
| Klhdc4 |
A |
T |
8: 122,526,226 (GRCm39) |
Y304* |
probably null |
Het |
| Klhl25 |
A |
G |
7: 75,516,027 (GRCm39) |
Y6C |
probably damaging |
Het |
| Lars1 |
C |
T |
18: 42,347,851 (GRCm39) |
V991M |
probably benign |
Het |
| Med20 |
T |
C |
17: 47,922,605 (GRCm39) |
M1T |
probably null |
Het |
| Mslnl |
A |
T |
17: 25,961,939 (GRCm39) |
H138L |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,457,449 (GRCm39) |
I1583V |
probably benign |
Het |
| Nipbl |
A |
C |
15: 8,337,096 (GRCm39) |
V2093G |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
| Opalin |
T |
C |
19: 41,052,420 (GRCm39) |
|
probably null |
Het |
| Or1j12 |
T |
G |
2: 36,343,452 (GRCm39) |
L285R |
probably damaging |
Het |
| Or51d1 |
T |
A |
7: 102,348,291 (GRCm39) |
V282D |
possibly damaging |
Het |
| Or8g26 |
A |
G |
9: 39,095,984 (GRCm39) |
K170R |
probably benign |
Het |
| Pgm2 |
A |
T |
5: 64,250,351 (GRCm39) |
T9S |
unknown |
Het |
| Piwil2 |
A |
C |
14: 70,646,376 (GRCm39) |
S387A |
probably benign |
Het |
| Polr1c |
T |
C |
17: 46,555,539 (GRCm39) |
T240A |
possibly damaging |
Het |
| Polr3c |
A |
G |
3: 96,631,163 (GRCm39) |
M118T |
probably damaging |
Het |
| Pth1r |
C |
T |
9: 110,560,641 (GRCm39) |
C42Y |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rictor |
A |
T |
15: 6,821,151 (GRCm39) |
M1492L |
probably benign |
Het |
| Rrbp1 |
T |
A |
2: 143,795,173 (GRCm39) |
Y1277F |
probably benign |
Het |
| Scgb3a2 |
T |
G |
18: 43,897,549 (GRCm39) |
|
probably benign |
Het |
| Skint1 |
G |
A |
4: 111,886,054 (GRCm39) |
S327N |
probably benign |
Het |
| Steap4 |
A |
T |
5: 8,030,388 (GRCm39) |
S415C |
probably benign |
Het |
| Tex48 |
A |
G |
4: 63,530,228 (GRCm39) |
|
probably benign |
Het |
| Usp47 |
T |
A |
7: 111,690,643 (GRCm39) |
I762K |
possibly damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,334,859 (GRCm39) |
H267R |
probably benign |
Het |
| Wnt2b |
A |
G |
3: 104,860,513 (GRCm39) |
|
probably benign |
Het |
| Xirp1 |
T |
C |
9: 119,847,483 (GRCm39) |
N28D |
possibly damaging |
Het |
| Zeb1 |
T |
C |
18: 5,767,138 (GRCm39) |
S550P |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCAAGCCTCCAGTGATAGTTCC -3'
(R):5'- GCTGACAGTGACTTCTTCACATCCC -3'
Sequencing Primer
(F):5'- ccagtaaaggaaagaacccaaag -3'
(R):5'- ACCCCAGTGTCTCCCTGTG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation