Incidental Mutation 'IGL00863:Tdpoz4'
| ID |
14417 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tdpoz4
|
| Ensembl Gene |
ENSMUSG00000060256 |
| Gene Name |
TD and POZ domain containing 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.883)
|
| Stock # |
IGL00863
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
93703705-93704817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93704380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 226
(T226S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075953]
|
| AlphaFold |
Q6YCH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075953
AA Change: T226S
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000075338
Gene: ENSMUSG00000060256
AA Change: T226S
| Domain | Start | End | E-Value | Type |
|---|
|
MATH
|
24 |
130 |
4.81e-2 |
SMART |
|
BTB
|
188 |
287 |
2.9e-26 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bsn |
A |
G |
9: 107,992,521 (GRCm39) |
I1077T |
probably damaging |
Het |
| Car8 |
A |
G |
4: 8,183,251 (GRCm39) |
|
probably null |
Het |
| Ccdc192 |
A |
T |
18: 57,727,158 (GRCm39) |
E136V |
probably damaging |
Het |
| Ccny |
A |
T |
18: 9,345,444 (GRCm39) |
D143E |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,876,874 (GRCm39) |
V155A |
probably damaging |
Het |
| Cript |
T |
A |
17: 87,335,151 (GRCm39) |
I14N |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Cyria |
A |
T |
12: 12,409,235 (GRCm39) |
I72F |
probably benign |
Het |
| Eef1b2 |
G |
A |
1: 63,217,665 (GRCm39) |
G91R |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,776,175 (GRCm39) |
V60A |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,245,139 (GRCm39) |
E249D |
possibly damaging |
Het |
| G6pc1 |
G |
T |
11: 101,261,549 (GRCm39) |
R83L |
probably damaging |
Het |
| Grik2 |
A |
G |
10: 49,232,024 (GRCm39) |
V502A |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,450,009 (GRCm39) |
V2001A |
probably benign |
Het |
| Il4i1 |
T |
A |
7: 44,487,470 (GRCm39) |
Y148* |
probably null |
Het |
| Jmjd4 |
T |
C |
11: 59,341,569 (GRCm39) |
S113P |
probably benign |
Het |
| Nceh1 |
C |
T |
3: 27,295,462 (GRCm39) |
P241L |
probably damaging |
Het |
| Pals1 |
A |
G |
12: 78,856,595 (GRCm39) |
D146G |
probably damaging |
Het |
| Pcdh10 |
T |
A |
3: 45,334,737 (GRCm39) |
D350E |
probably damaging |
Het |
| Pdgfrl |
A |
G |
8: 41,438,571 (GRCm39) |
E169G |
probably damaging |
Het |
| Ppm1l |
T |
A |
3: 69,225,283 (GRCm39) |
D128E |
probably damaging |
Het |
| Rasa1 |
A |
G |
13: 85,436,548 (GRCm39) |
V160A |
probably benign |
Het |
| Serf2 |
T |
C |
2: 121,288,184 (GRCm39) |
|
probably null |
Het |
| Slitrk1 |
T |
A |
14: 109,149,269 (GRCm39) |
N481Y |
probably damaging |
Het |
| Tas2r139 |
T |
G |
6: 42,118,055 (GRCm39) |
S62R |
probably damaging |
Het |
| Tvp23b |
C |
A |
11: 62,774,464 (GRCm39) |
A36E |
probably damaging |
Het |
| Upp2 |
G |
A |
2: 58,680,076 (GRCm39) |
E301K |
probably benign |
Het |
|
| Other mutations in Tdpoz4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01731:Tdpoz4
|
APN |
3 |
93,704,189 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01934:Tdpoz4
|
APN |
3 |
93,704,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03269:Tdpoz4
|
APN |
3 |
93,704,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4340:Tdpoz4
|
UTSW |
3 |
93,704,187 (GRCm39) |
frame shift |
probably null |
|
|
FR4342:Tdpoz4
|
UTSW |
3 |
93,704,187 (GRCm39) |
frame shift |
probably null |
|
|
R0387:Tdpoz4
|
UTSW |
3 |
93,704,007 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1134:Tdpoz4
|
UTSW |
3 |
93,704,525 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1299:Tdpoz4
|
UTSW |
3 |
93,703,769 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1574:Tdpoz4
|
UTSW |
3 |
93,703,835 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1574:Tdpoz4
|
UTSW |
3 |
93,703,835 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2113:Tdpoz4
|
UTSW |
3 |
93,704,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4601:Tdpoz4
|
UTSW |
3 |
93,704,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4738:Tdpoz4
|
UTSW |
3 |
93,704,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4948:Tdpoz4
|
UTSW |
3 |
93,704,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5495:Tdpoz4
|
UTSW |
3 |
93,704,806 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5519:Tdpoz4
|
UTSW |
3 |
93,704,806 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5550:Tdpoz4
|
UTSW |
3 |
93,704,806 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5595:Tdpoz4
|
UTSW |
3 |
93,704,806 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5596:Tdpoz4
|
UTSW |
3 |
93,704,806 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5615:Tdpoz4
|
UTSW |
3 |
93,704,806 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7198:Tdpoz4
|
UTSW |
3 |
93,704,662 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7290:Tdpoz4
|
UTSW |
3 |
93,704,155 (GRCm39) |
missense |
not run |
|
|
R7677:Tdpoz4
|
UTSW |
3 |
93,704,815 (GRCm39) |
makesense |
probably null |
|
|
R8745:Tdpoz4
|
UTSW |
3 |
93,704,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9004:Tdpoz4
|
UTSW |
3 |
93,704,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9369:Tdpoz4
|
UTSW |
3 |
93,703,741 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9623:Tdpoz4
|
UTSW |
3 |
93,704,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0066:Tdpoz4
|
UTSW |
3 |
93,704,275 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2012-12-06 |
Incidental Mutation