Incidental Mutation 'R5519:Tdpoz4'
| ID |
431447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdpoz4
|
| Ensembl Gene |
ENSMUSG00000060256 |
| Gene Name |
TD and POZ domain containing 4 |
| Synonyms |
|
| MMRRC Submission |
043078-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.891)
|
| Stock # |
R5519 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
93703705-93704817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93704806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 368
(T368S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075953]
|
| AlphaFold |
Q6YCH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075953
AA Change: T368S
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000075338
Gene: ENSMUSG00000060256
AA Change: T368S
| Domain | Start | End | E-Value | Type |
|---|
|
MATH
|
24 |
130 |
4.81e-2 |
SMART |
|
BTB
|
188 |
287 |
2.9e-26 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 94.7%
- 20x: 88.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067K01Rik |
T |
C |
8: 84,729,621 (GRCm39) |
V99A |
possibly damaging |
Het |
| 2510009E07Rik |
A |
G |
16: 21,472,218 (GRCm39) |
S91P |
probably benign |
Het |
| 2810021J22Rik |
G |
A |
11: 58,770,923 (GRCm39) |
S135N |
probably benign |
Het |
| A530084C06Rik |
T |
C |
13: 31,742,702 (GRCm39) |
|
probably benign |
Het |
| Acadsb |
T |
C |
7: 131,031,694 (GRCm39) |
S177P |
probably damaging |
Het |
| Acp3 |
C |
A |
9: 104,168,687 (GRCm39) |
G393W |
probably damaging |
Het |
| Axl |
G |
A |
7: 25,478,087 (GRCm39) |
A204V |
possibly damaging |
Het |
| Birc6 |
A |
T |
17: 74,887,173 (GRCm39) |
M806L |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,255,700 (GRCm39) |
L861P |
probably damaging |
Het |
| Cfap44 |
A |
T |
16: 44,224,451 (GRCm39) |
D53V |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,269,335 (GRCm39) |
|
probably null |
Het |
| Ctf2 |
T |
A |
7: 127,318,463 (GRCm39) |
I179L |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Emilin2 |
G |
A |
17: 71,559,930 (GRCm39) |
P1016S |
probably benign |
Het |
| Gm12790 |
G |
A |
4: 101,824,888 (GRCm39) |
P127S |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,494,857 (GRCm39) |
V24E |
probably damaging |
Het |
| Ipp |
T |
C |
4: 116,367,964 (GRCm39) |
F66L |
possibly damaging |
Het |
| Jakmip3 |
T |
C |
7: 138,609,520 (GRCm39) |
I208T |
probably damaging |
Het |
| Med30 |
G |
T |
15: 52,584,462 (GRCm39) |
D127Y |
probably damaging |
Het |
| Mosmo |
C |
T |
7: 120,329,733 (GRCm39) |
P118L |
probably benign |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Or51a42 |
G |
A |
7: 103,708,504 (GRCm39) |
Q102* |
probably null |
Het |
| Padi2 |
A |
G |
4: 140,676,533 (GRCm39) |
D557G |
probably damaging |
Het |
| Pde11a |
T |
A |
2: 75,906,299 (GRCm39) |
K639N |
probably damaging |
Het |
| Pspc1 |
T |
C |
14: 57,009,413 (GRCm39) |
I140M |
probably benign |
Het |
| Rundc3a |
A |
T |
11: 102,292,857 (GRCm39) |
I417F |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,162,557 (GRCm39) |
I230F |
probably damaging |
Het |
| Serpinb3b |
A |
G |
1: 107,087,506 (GRCm39) |
M1T |
probably null |
Het |
| Sin3a |
T |
C |
9: 57,025,457 (GRCm39) |
|
probably null |
Het |
| St8sia1 |
T |
C |
6: 142,909,287 (GRCm39) |
N70D |
probably damaging |
Het |
| Tpm2 |
T |
G |
4: 43,522,751 (GRCm39) |
D55A |
possibly damaging |
Het |
| Trdv1 |
T |
A |
14: 54,119,405 (GRCm39) |
M22K |
probably benign |
Het |
| Zc3h4 |
A |
T |
7: 16,169,157 (GRCm39) |
T1089S |
unknown |
Het |
| Zfp518b |
G |
A |
5: 38,831,441 (GRCm39) |
T188M |
probably damaging |
Het |
| Zfp74 |
G |
T |
7: 29,634,559 (GRCm39) |
A383D |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCTCTGTGGAGAATGCTG -3'
(R):5'- GTTCCAGATTCCAATGCTGTCC -3'
Sequencing Primer
(F):5'- TGAAGACTCAGGCCCTGGATTTC -3'
(R):5'- AGATTCCAATGCTGTCCATTTTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation