Incidental Mutation 'R5550:Tdpoz4'
ID |
435079 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tdpoz4
|
Ensembl Gene |
ENSMUSG00000060256 |
Gene Name |
TD and POZ domain containing 4 |
Synonyms |
|
MMRRC Submission |
043107-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.883)
|
Stock # |
R5550 (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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
C |
11: 119,900,129 (GRCm39) |
I1295M |
probably benign |
Het |
Adgrb2 |
G |
T |
4: 129,908,727 (GRCm39) |
|
probably null |
Het |
Adig |
A |
T |
2: 158,349,880 (GRCm39) |
|
probably benign |
Het |
Atp5po |
C |
A |
16: 91,727,292 (GRCm39) |
V15F |
probably damaging |
Het |
Bdh2 |
A |
G |
3: 134,994,074 (GRCm39) |
K52R |
probably benign |
Het |
Bud23 |
A |
G |
5: 135,092,744 (GRCm39) |
V27A |
probably benign |
Het |
Ces2b |
A |
G |
8: 105,565,069 (GRCm39) |
D551G |
probably benign |
Het |
Csmd3 |
G |
C |
15: 48,048,753 (GRCm39) |
S446C |
probably damaging |
Het |
Dio3 |
A |
T |
12: 110,246,560 (GRCm39) |
T299S |
probably benign |
Het |
Dnah1 |
T |
A |
14: 31,038,665 (GRCm39) |
I139F |
probably benign |
Het |
Dpy30 |
A |
G |
17: 74,622,920 (GRCm39) |
Y21H |
probably benign |
Het |
Gbp4 |
C |
T |
5: 105,269,911 (GRCm39) |
V306M |
probably damaging |
Het |
Gcat |
G |
A |
15: 78,926,411 (GRCm39) |
V94M |
probably benign |
Het |
H2bc27 |
A |
G |
11: 58,840,146 (GRCm39) |
*127W |
probably null |
Het |
Henmt1 |
A |
G |
3: 108,861,184 (GRCm39) |
Y69C |
probably damaging |
Het |
Kank4 |
A |
G |
4: 98,659,678 (GRCm39) |
F800S |
probably benign |
Het |
Lrrc37a |
T |
A |
11: 103,389,003 (GRCm39) |
T2141S |
unknown |
Het |
Map3k4 |
G |
A |
17: 12,462,445 (GRCm39) |
R1143* |
probably null |
Het |
Mdc1 |
A |
G |
17: 36,156,776 (GRCm39) |
D61G |
possibly damaging |
Het |
Nfkbid |
T |
A |
7: 30,125,426 (GRCm39) |
L303Q |
probably damaging |
Het |
Or2ag15 |
T |
C |
7: 106,340,340 (GRCm39) |
N267S |
probably benign |
Het |
Or6c75 |
A |
G |
10: 129,337,652 (GRCm39) |
N300D |
probably damaging |
Het |
P2ry1 |
T |
C |
3: 60,911,232 (GRCm39) |
C124R |
probably damaging |
Het |
Sntg1 |
C |
T |
1: 8,695,008 (GRCm39) |
C153Y |
probably damaging |
Het |
Speg |
A |
T |
1: 75,405,744 (GRCm39) |
T2983S |
probably damaging |
Het |
Tbc1d2 |
G |
A |
4: 46,646,138 (GRCm39) |
P163S |
probably benign |
Het |
Tnks2 |
T |
A |
19: 36,839,746 (GRCm39) |
V78E |
probably damaging |
Het |
Trip12 |
A |
G |
1: 84,738,820 (GRCm39) |
C709R |
probably damaging |
Het |
Xpo5 |
T |
A |
17: 46,545,418 (GRCm39) |
V828D |
possibly 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 |
R5519: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'- TCCAGATTCCAATGCTGTCC -3'
Sequencing Primer
(F):5'- TGAAGACTCAGGCCCTGGATTTC -3'
(R):5'- AGATTCCAATGCTGTCCATTTTC -3'
|
Posted On |
2016-10-24 |