Incidental Mutation 'IGL00468:Tox4'
ID |
14551 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00468
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
52516603-52532966 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 52523202 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 54
(D54G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022766
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022766]
|
AlphaFold |
Q8BU11 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022766
AA Change: D54G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022766 Gene: ENSMUSG00000016831 AA Change: D54G
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
A |
G |
5: 3,630,453 (GRCm39) |
E123G |
probably damaging |
Het |
Alpk2 |
A |
T |
18: 65,438,894 (GRCm39) |
L1300Q |
probably benign |
Het |
Armc9 |
T |
C |
1: 86,126,061 (GRCm39) |
Y51H |
probably damaging |
Het |
Bcl11b |
A |
G |
12: 107,932,074 (GRCm39) |
V166A |
possibly damaging |
Het |
Cfap70 |
T |
A |
14: 20,462,530 (GRCm39) |
D565V |
possibly damaging |
Het |
Cops5 |
C |
A |
1: 10,104,295 (GRCm39) |
G132W |
probably damaging |
Het |
Dync1i1 |
G |
A |
6: 5,972,135 (GRCm39) |
V468M |
probably damaging |
Het |
Fasn |
A |
C |
11: 120,711,365 (GRCm39) |
D216E |
probably damaging |
Het |
Fktn |
T |
A |
4: 53,734,866 (GRCm39) |
I168K |
probably benign |
Het |
Gal3st2c |
A |
G |
1: 93,936,771 (GRCm39) |
R239G |
probably benign |
Het |
Glt6d1 |
A |
C |
2: 25,701,041 (GRCm39) |
L36R |
probably damaging |
Het |
Herc3 |
A |
G |
6: 58,895,751 (GRCm39) |
I1000V |
probably benign |
Het |
Hycc2 |
T |
G |
1: 58,569,391 (GRCm39) |
E396A |
probably benign |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Lhcgr |
C |
T |
17: 89,049,874 (GRCm39) |
V551I |
probably benign |
Het |
Lmna |
G |
T |
3: 88,391,991 (GRCm39) |
S437R |
probably benign |
Het |
Lrrc49 |
A |
G |
9: 60,595,151 (GRCm39) |
|
probably benign |
Het |
Lrriq3 |
A |
G |
3: 154,806,816 (GRCm39) |
D155G |
probably damaging |
Het |
Mcf2 |
G |
A |
X: 59,179,095 (GRCm39) |
T104I |
probably damaging |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mipep |
A |
G |
14: 61,112,709 (GRCm39) |
E664G |
probably benign |
Het |
Mybpc1 |
A |
T |
10: 88,385,124 (GRCm39) |
V519D |
probably damaging |
Het |
Nfil3 |
C |
A |
13: 53,121,610 (GRCm39) |
L431F |
probably damaging |
Het |
Sctr |
T |
A |
1: 119,972,450 (GRCm39) |
V197E |
probably damaging |
Het |
Sesn2 |
T |
C |
4: 132,227,124 (GRCm39) |
T103A |
probably benign |
Het |
Sptbn4 |
A |
T |
7: 27,117,390 (GRCm39) |
V453D |
probably damaging |
Het |
Supt5 |
A |
T |
7: 28,014,807 (GRCm39) |
H1023Q |
probably benign |
Het |
Tcof1 |
T |
C |
18: 60,947,640 (GRCm39) |
|
probably benign |
Het |
Tekt2 |
T |
A |
4: 126,216,982 (GRCm39) |
E262D |
possibly damaging |
Het |
Tenm4 |
T |
A |
7: 96,523,679 (GRCm39) |
H1732Q |
probably damaging |
Het |
Tln2 |
T |
C |
9: 67,251,469 (GRCm39) |
D840G |
possibly damaging |
Het |
|
Other mutations in Tox4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2012-12-06 |