Incidental Mutation 'R0801:Tox4'
| ID |
76294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tox4
|
| Ensembl Gene |
ENSMUSG00000016831 |
| Gene Name |
TOX high mobility group box family member 4 |
| Synonyms |
5730589K01Rik |
| MMRRC Submission |
038981-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0801 (G1)
|
| Quality Score |
195 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
52516603-52532966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52517335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 22
(S22P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022765]
[ENSMUST00000022766]
[ENSMUST00000100631]
[ENSMUST00000167116]
[ENSMUST00000172488]
[ENSMUST00000174020]
|
| AlphaFold |
Q8BU11 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022765
|
| SMART Domains |
Protein: ENSMUSP00000022765
Gene: ENSMUSG00000022159
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
7 |
170 |
7.66e-107 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022766
AA Change: S22P
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022766
Gene: ENSMUSG00000016831
AA Change: S22P
| 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 benign
Transcript: ENSMUST00000100631
|
| SMART Domains |
Protein: ENSMUSP00000098197
Gene: ENSMUSG00000022159
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
7 |
168 |
6.88e-100 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152493
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158354
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167116
|
| SMART Domains |
Protein: ENSMUSP00000131145
Gene: ENSMUSG00000022159
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
7 |
170 |
7.66e-107 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173046
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172655
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172634
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172488
|
| SMART Domains |
Protein: ENSMUSP00000133787
Gene: ENSMUSG00000022159
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miro
|
8 |
62 |
3.5e-7 |
PFAM |
|
Pfam:Ras
|
8 |
62 |
3.7e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174020
|
| SMART Domains |
Protein: ENSMUSP00000134726
Gene: ENSMUSG00000022159
| Domain | Start | End | E-Value | Type |
|---|
|
small_GTPase
|
7 |
70 |
5.2e-8 |
SMART |
|
| Meta Mutation Damage Score |
0.0917 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.2%
- 10x: 97.6%
- 20x: 94.7%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030612E09Rik |
A |
G |
10: 43,050,987 (GRCm39) |
K94E |
possibly damaging |
Het |
| Aldh16a1 |
A |
T |
7: 44,796,900 (GRCm39) |
C228S |
probably benign |
Het |
| Arnt |
G |
T |
3: 95,401,157 (GRCm39) |
R702L |
possibly damaging |
Het |
| Ccdc174 |
A |
G |
6: 91,872,313 (GRCm39) |
E314G |
possibly damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,536,866 (GRCm39) |
|
probably null |
Het |
| Ccdc92 |
T |
C |
5: 124,913,335 (GRCm39) |
T65A |
probably benign |
Het |
| Cenpm |
A |
T |
15: 82,118,667 (GRCm39) |
I149N |
probably benign |
Het |
| Cfap44 |
C |
T |
16: 44,242,849 (GRCm39) |
S751L |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,065,107 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
A |
G |
6: 4,531,316 (GRCm39) |
T762A |
unknown |
Het |
| Crebbp |
T |
C |
16: 3,906,140 (GRCm39) |
K1621E |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,355,783 (GRCm39) |
I374L |
probably damaging |
Het |
| Dgkq |
A |
T |
5: 108,808,586 (GRCm39) |
|
probably null |
Het |
| Dis3l |
T |
C |
9: 64,226,436 (GRCm39) |
I365V |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,599,620 (GRCm39) |
R320G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,209,470 (GRCm39) |
N853S |
probably damaging |
Het |
| Egf |
T |
C |
3: 129,496,234 (GRCm39) |
|
probably benign |
Het |
| Eif2ak2 |
T |
A |
17: 79,173,778 (GRCm39) |
R267* |
probably null |
Het |
| Ern2 |
A |
G |
7: 121,780,085 (GRCm39) |
|
probably benign |
Het |
| Ero1b |
A |
G |
13: 12,596,568 (GRCm39) |
S123G |
probably benign |
Het |
| Fam13a |
G |
T |
6: 58,960,997 (GRCm39) |
N118K |
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,729,065 (GRCm39) |
M792K |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Irf3 |
C |
T |
7: 44,650,058 (GRCm39) |
|
probably benign |
Het |
| Map2k5 |
T |
A |
9: 63,265,261 (GRCm39) |
|
probably benign |
Het |
| Mcf2l |
T |
A |
8: 13,064,020 (GRCm39) |
|
probably benign |
Het |
| Mdga2 |
A |
T |
12: 66,533,507 (GRCm39) |
I878K |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,668,895 (GRCm39) |
S318P |
probably benign |
Het |
| Or13a19 |
G |
A |
7: 139,902,831 (GRCm39) |
C73Y |
probably damaging |
Het |
| Or5aq1b |
G |
A |
2: 86,902,407 (GRCm39) |
Q24* |
probably null |
Het |
| Pklr |
G |
A |
3: 89,052,829 (GRCm39) |
W527* |
probably null |
Het |
| Pnpla5 |
T |
C |
15: 83,998,121 (GRCm39) |
M374V |
probably benign |
Het |
| Ptprn |
G |
T |
1: 75,228,909 (GRCm39) |
H835Q |
probably damaging |
Het |
| R3hdm4 |
A |
G |
10: 79,749,191 (GRCm39) |
|
probably benign |
Het |
| Rgs8 |
T |
A |
1: 153,546,557 (GRCm39) |
C19S |
probably damaging |
Het |
| Smarca4 |
C |
A |
9: 21,553,850 (GRCm39) |
Q575K |
possibly damaging |
Het |
| Srgap1 |
A |
T |
10: 121,643,780 (GRCm39) |
F612L |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,099,443 (GRCm39) |
R1256G |
probably benign |
Het |
| Ttc39d |
A |
G |
17: 80,523,644 (GRCm39) |
Y101C |
probably damaging |
Het |
| Usb1 |
T |
C |
8: 96,060,168 (GRCm39) |
|
probably null |
Het |
| Vps13a |
T |
C |
19: 16,664,020 (GRCm39) |
|
probably benign |
Het |
| Vps26a |
G |
A |
10: 62,294,857 (GRCm39) |
|
probably benign |
Het |
| Zfp638 |
T |
A |
6: 83,949,220 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R4016:Tox4
|
UTSW |
14 |
52,523,361 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- AGCTCAAGCTGCGTCTCTATTGC -3'
(R):5'- CAAGCCGTCTCTTCAACATCCTGG -3'
Sequencing Primer
(F):5'- CAGAAATCTTCGCTGGATCG -3'
(R):5'- GGTTTCCTCATGACAGCCG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation