Incidental Mutation 'PIT4494001:Tox4'
| ID |
556162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tox4
|
| Ensembl Gene |
ENSMUSG00000016831 |
| Gene Name |
TOX high mobility group box family member 4 |
| Synonyms |
5730589K01Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4494001 (G1)
|
| Quality Score |
164.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
52516603-52532966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 52529260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 407
(T407I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022766]
[ENSMUST00000022767]
[ENSMUST00000147768]
[ENSMUST00000174351]
|
| AlphaFold |
Q8BU11 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022766
AA Change: T407I
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000022766
Gene: ENSMUSG00000016831
AA Change: T407I
| 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: ENSMUST00000022767
|
| SMART Domains |
Protein: ENSMUSP00000022767
Gene: ENSMUSG00000022160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
213 |
N/A |
INTRINSIC |
|
Pfam:MT-A70
|
389 |
550 |
9.9e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147768
|
| SMART Domains |
Protein: ENSMUSP00000134577
Gene: ENSMUSG00000022160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
242 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173656
|
| SMART Domains |
Protein: ENSMUSP00000133759
Gene: ENSMUSG00000022160
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MT-A70
|
1 |
60 |
8.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174351
|
| SMART Domains |
Protein: ENSMUSP00000134732
Gene: ENSMUSG00000022160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
162 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174360
|
| SMART Domains |
Protein: ENSMUSP00000134578
Gene: ENSMUSG00000022160
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MT-A70
|
1 |
34 |
4.3e-10 |
PFAM |
|
Pfam:MT-A70
|
30 |
74 |
1.4e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.8%
- 3x: 91.1%
- 10x: 85.6%
- 20x: 73.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
T |
C |
4: 123,754,698 (GRCm39) |
I204T |
probably benign |
Het |
| Acnat2 |
T |
C |
4: 49,383,133 (GRCm39) |
E140G |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,292,522 (GRCm39) |
E413G |
probably damaging |
Het |
| Atg9a |
A |
T |
1: 75,164,597 (GRCm39) |
C122* |
probably null |
Het |
| Birc6 |
T |
C |
17: 74,933,975 (GRCm39) |
Y2544H |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,516,263 (GRCm39) |
T1383I |
probably benign |
Het |
| Cd2ap |
C |
T |
17: 43,163,258 (GRCm39) |
|
probably null |
Het |
| Cdhr1 |
T |
C |
14: 36,804,813 (GRCm39) |
T466A |
probably benign |
Het |
| Cdhr2 |
G |
T |
13: 54,866,255 (GRCm39) |
|
probably null |
Het |
| Eppk1 |
T |
A |
15: 75,990,272 (GRCm39) |
Q2203L |
probably benign |
Het |
| F10 |
T |
C |
8: 13,103,423 (GRCm39) |
L281P |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,545,316 (GRCm39) |
T825A |
probably damaging |
Het |
| Fbxw27 |
T |
C |
9: 109,601,178 (GRCm39) |
E314G |
probably benign |
Het |
| Foxred1 |
T |
C |
9: 35,120,355 (GRCm39) |
E173G |
possibly damaging |
Het |
| Gm4847 |
T |
C |
1: 166,467,587 (GRCm39) |
E203G |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,275,800 (GRCm39) |
R526H |
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,402,960 (GRCm39) |
Y842C |
probably damaging |
Het |
| Hyal4 |
T |
C |
6: 24,755,833 (GRCm39) |
V17A |
probably benign |
Het |
| Igkv4-68 |
T |
C |
6: 69,282,091 (GRCm39) |
T27A |
probably damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,529,464 (GRCm39) |
N2036Y |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,660,091 (GRCm39) |
Y991C |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,456,741 (GRCm39) |
Y841C |
probably damaging |
Het |
| Medag |
A |
G |
5: 149,350,765 (GRCm39) |
Y194C |
probably damaging |
Het |
| Mynn |
C |
T |
3: 30,661,871 (GRCm39) |
R318* |
probably null |
Het |
| Notch1 |
C |
T |
2: 26,356,485 (GRCm39) |
V1711M |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,766,311 (GRCm39) |
|
probably null |
Het |
| Pex7 |
A |
G |
10: 19,770,469 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,796,775 (GRCm39) |
T2417A |
probably damaging |
Het |
| Pknox2 |
A |
G |
9: 36,865,987 (GRCm39) |
|
probably null |
Het |
| Plekha4 |
T |
C |
7: 45,197,503 (GRCm39) |
S522P |
probably damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,092,168 (GRCm39) |
S310R |
probably benign |
Het |
| Rap2a |
A |
G |
14: 120,716,319 (GRCm39) |
T61A |
possibly damaging |
Het |
| Ryr3 |
G |
T |
2: 112,672,221 (GRCm39) |
L1437M |
probably damaging |
Het |
| Slc25a40 |
T |
G |
5: 8,490,737 (GRCm39) |
I95S |
probably damaging |
Het |
| Srbd1 |
C |
T |
17: 86,449,787 (GRCm39) |
|
probably null |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,712 (GRCm39) |
I254M |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,580,905 (GRCm39) |
A182V |
probably damaging |
Het |
| Zfp60 |
T |
C |
7: 27,448,126 (GRCm39) |
S265P |
probably damaging |
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 |
|
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 |
|
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'- GCAAACCAAGCCTCTTCTGG -3'
(R):5'- GCACAATCTTGCTCTGCAGAG -3'
Sequencing Primer
(F):5'- AAGCCTCTTCTGGGCCTG -3'
(R):5'- CTGCTGCTGTAAGTTGATTCTAAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation