Incidental Mutation 'IGL03269:Tdpoz4'
| ID |
415187 |
| 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 # |
IGL03269
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
93703705-93704817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 93704144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 147
(C147Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075953]
|
| AlphaFold |
Q6YCH2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075953
AA Change: C147Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075338
Gene: ENSMUSG00000060256
AA Change: C147Y
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
T |
A |
2: 26,998,367 (GRCm39) |
C930* |
probably null |
Het |
| Ankar |
A |
T |
1: 72,704,360 (GRCm39) |
V854E |
probably damaging |
Het |
| Ceacam3 |
T |
A |
7: 16,895,767 (GRCm39) |
L579Q |
probably damaging |
Het |
| Clip2 |
G |
T |
5: 134,545,748 (GRCm39) |
H314Q |
probably damaging |
Het |
| Fbxo28 |
A |
G |
1: 182,144,583 (GRCm39) |
V327A |
possibly damaging |
Het |
| Gdap1 |
T |
A |
1: 17,231,729 (GRCm39) |
F358Y |
probably benign |
Het |
| Ift70a2 |
T |
C |
2: 75,808,479 (GRCm39) |
D11G |
possibly damaging |
Het |
| Ighv1-18 |
T |
C |
12: 114,646,466 (GRCm39) |
Y46C |
probably damaging |
Het |
| Il1rl2 |
T |
A |
1: 40,404,472 (GRCm39) |
F531Y |
probably damaging |
Het |
| Irf6 |
A |
G |
1: 192,844,906 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,248,409 (GRCm39) |
T1632A |
probably damaging |
Het |
| Odad3 |
A |
G |
9: 21,909,339 (GRCm39) |
|
probably null |
Het |
| Or4l1 |
T |
A |
14: 50,166,165 (GRCm39) |
T279S |
probably damaging |
Het |
| Or5b3 |
T |
A |
19: 13,388,792 (GRCm39) |
N286K |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,197 (GRCm39) |
T10A |
probably benign |
Het |
| Osgepl1 |
C |
A |
1: 53,360,271 (GRCm39) |
Y332* |
probably null |
Het |
| Pibf1 |
G |
A |
14: 99,425,171 (GRCm39) |
A553T |
probably damaging |
Het |
| Prpf38b |
A |
G |
3: 108,812,557 (GRCm39) |
F219L |
probably benign |
Het |
| Pwp1 |
C |
A |
10: 85,718,768 (GRCm39) |
Q312K |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,665,403 (GRCm39) |
V185A |
possibly damaging |
Het |
| Serpina3k |
T |
C |
12: 104,306,780 (GRCm39) |
I4T |
possibly damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,871,178 (GRCm39) |
V145A |
probably damaging |
Het |
| Slco3a1 |
T |
C |
7: 73,968,280 (GRCm39) |
D480G |
possibly damaging |
Het |
| Tlr4 |
C |
A |
4: 66,759,033 (GRCm39) |
P609T |
probably damaging |
Het |
| Trgv4 |
T |
A |
13: 19,369,622 (GRCm39) |
I122K |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,054,936 (GRCm39) |
K927E |
probably damaging |
Het |
| Vmn1r71 |
G |
A |
7: 10,482,571 (GRCm39) |
T39I |
possibly damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,995,820 (GRCm39) |
L276P |
probably damaging |
Het |
| Zfp335 |
C |
A |
2: 164,742,274 (GRCm39) |
R570L |
probably damaging |
Het |
|
| Other mutations in Tdpoz4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00863:Tdpoz4
|
APN |
3 |
93,704,380 (GRCm39) |
missense |
probably benign |
0.22 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation