Incidental Mutation 'R4016:Tox4'
| ID |
311958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tox4
|
| Ensembl Gene |
ENSMUSG00000016831 |
| Gene Name |
TOX high mobility group box family member 4 |
| Synonyms |
5730589K01Rik |
| MMRRC Submission |
040847-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4016 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
52516603-52532966 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 52523361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022766]
[ENSMUST00000022766]
[ENSMUST00000022766]
[ENSMUST00000022766]
|
| AlphaFold |
Q8BU11 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022766
|
| SMART Domains |
Protein: ENSMUSP00000022766
Gene: ENSMUSG00000016831
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
|
HMG
|
222 |
292 |
1.17e-18 |
SMART |
|
low complexity region
|
307 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
476 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000022766
|
| SMART Domains |
Protein: ENSMUSP00000022766
Gene: ENSMUSG00000016831
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
|
HMG
|
222 |
292 |
1.17e-18 |
SMART |
|
low complexity region
|
307 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
476 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000022766
|
| SMART Domains |
Protein: ENSMUSP00000022766
Gene: ENSMUSG00000016831
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
|
HMG
|
222 |
292 |
1.17e-18 |
SMART |
|
low complexity region
|
307 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
476 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000022766
|
| SMART Domains |
Protein: ENSMUSP00000022766
Gene: ENSMUSG00000016831
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
|
HMG
|
222 |
292 |
1.17e-18 |
SMART |
|
low complexity region
|
307 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
476 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152493
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173361
|
| Meta Mutation Damage Score |
0.9499 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh8a1 |
G |
A |
10: 21,271,470 (GRCm39) |
V399I |
probably benign |
Het |
| Apold1 |
A |
G |
6: 134,960,869 (GRCm39) |
I108V |
probably benign |
Het |
| Arpc5 |
G |
A |
1: 152,644,607 (GRCm39) |
|
probably benign |
Het |
| Capn11 |
T |
A |
17: 45,964,682 (GRCm39) |
D45V |
probably damaging |
Het |
| Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
| Dlat |
C |
T |
9: 50,560,931 (GRCm39) |
|
probably null |
Het |
| Dock10 |
T |
A |
1: 80,584,286 (GRCm39) |
D140V |
probably damaging |
Het |
| Dtx3 |
A |
G |
10: 127,027,040 (GRCm39) |
V378A |
probably benign |
Het |
| Ezh2 |
A |
G |
6: 47,521,516 (GRCm39) |
I414T |
probably benign |
Het |
| Gm1979 |
C |
T |
5: 26,209,604 (GRCm39) |
W41* |
probably null |
Het |
| Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,371,067 (GRCm39) |
Y504N |
probably damaging |
Het |
| Map3k21 |
T |
A |
8: 126,637,924 (GRCm39) |
I170N |
probably damaging |
Het |
| Mrgpra6 |
C |
A |
7: 46,838,463 (GRCm39) |
C245F |
possibly damaging |
Het |
| Nipal2 |
T |
G |
15: 34,600,207 (GRCm39) |
K203N |
possibly damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,063,911 (GRCm39) |
F621S |
probably damaging |
Het |
| Nos3 |
G |
A |
5: 24,576,714 (GRCm39) |
V448M |
probably damaging |
Het |
| Ntrk3 |
G |
T |
7: 78,112,695 (GRCm39) |
|
probably benign |
Het |
| Or5b118 |
A |
T |
19: 13,448,561 (GRCm39) |
T76S |
possibly damaging |
Het |
| P2rx1 |
T |
C |
11: 72,900,799 (GRCm39) |
C190R |
probably damaging |
Het |
| Pdzrn4 |
T |
A |
15: 92,297,630 (GRCm39) |
D198E |
probably benign |
Het |
| Ptar1 |
A |
G |
19: 23,664,824 (GRCm39) |
M1V |
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Purg |
T |
A |
8: 33,877,019 (GRCm39) |
L219* |
probably null |
Het |
| Rbp3 |
G |
T |
14: 33,677,347 (GRCm39) |
V432L |
possibly damaging |
Het |
| Scnn1b |
G |
T |
7: 121,513,555 (GRCm39) |
|
probably null |
Het |
| Sgms1 |
A |
G |
19: 32,120,192 (GRCm39) |
V238A |
possibly damaging |
Het |
| Slc16a14 |
G |
T |
1: 84,890,228 (GRCm39) |
S359* |
probably null |
Het |
| Smarca2 |
G |
A |
19: 26,661,327 (GRCm39) |
|
probably null |
Het |
| Spatc1l |
A |
G |
10: 76,398,323 (GRCm39) |
S42G |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,042,473 (GRCm39) |
V34E |
probably damaging |
Het |
| Tex14 |
A |
G |
11: 87,429,449 (GRCm39) |
|
probably null |
Het |
| Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,263,845 (GRCm39) |
N1062D |
possibly damaging |
Het |
| Umod |
A |
C |
7: 119,075,913 (GRCm39) |
N284K |
possibly damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,993,572 (GRCm39) |
I338T |
probably damaging |
Het |
| Vmn2r99 |
C |
T |
17: 19,598,832 (GRCm39) |
T172I |
possibly damaging |
Het |
| Whrn |
G |
A |
4: 63,333,876 (GRCm39) |
Q415* |
probably null |
Het |
|
| Other mutations in Tox4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00468:Tox4
|
APN |
14 |
52,523,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Gift
|
UTSW |
14 |
52,524,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4494001:Tox4
|
UTSW |
14 |
52,529,260 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0517:Tox4
|
UTSW |
14 |
52,530,085 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0801:Tox4
|
UTSW |
14 |
52,517,335 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1640:Tox4
|
UTSW |
14 |
52,530,000 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2980:Tox4
|
UTSW |
14 |
52,529,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3899:Tox4
|
UTSW |
14 |
52,517,299 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4614:Tox4
|
UTSW |
14 |
52,524,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5764:Tox4
|
UTSW |
14 |
52,523,277 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5847:Tox4
|
UTSW |
14 |
52,524,241 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6669:Tox4
|
UTSW |
14 |
52,524,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6978:Tox4
|
UTSW |
14 |
52,524,694 (GRCm39) |
splice site |
probably null |
|
|
R7155:Tox4
|
UTSW |
14 |
52,529,554 (GRCm39) |
missense |
probably benign |
|
|
R7770:Tox4
|
UTSW |
14 |
52,517,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8806:Tox4
|
UTSW |
14 |
52,524,318 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9012:Tox4
|
UTSW |
14 |
52,523,208 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9165:Tox4
|
UTSW |
14 |
52,523,247 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9523:Tox4
|
UTSW |
14 |
52,529,166 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGGCTGTCTCAGATGTG -3'
(R):5'- AATTACTATAGTTGGTCCAGCCC -3'
Sequencing Primer
(F):5'- GGTTGGCCACTTTGATGACC -3'
(R):5'- GTGACACTTACACATTAGAATTCCAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation