Incidental Mutation 'R1299:Tdpoz4'
| ID |
158238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdpoz4
|
| Ensembl Gene |
ENSMUSG00000060256 |
| Gene Name |
TD and POZ domain containing 4 |
| Synonyms |
|
| MMRRC Submission |
039365-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.891)
|
| Stock # |
R1299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
93703705-93704817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93703769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 22
(Y22F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075953]
|
| AlphaFold |
Q6YCH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075953
AA Change: Y22F
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000075338
Gene: ENSMUSG00000060256
AA Change: Y22F
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,244,821 (GRCm39) |
L2228P |
possibly damaging |
Het |
| Acnat1 |
T |
A |
4: 49,450,925 (GRCm39) |
E62V |
possibly damaging |
Het |
| Adam7 |
A |
G |
14: 68,763,748 (GRCm39) |
|
probably benign |
Het |
| Ate1 |
A |
T |
7: 130,106,485 (GRCm39) |
V292D |
probably damaging |
Het |
| Cbx8 |
T |
C |
11: 118,931,676 (GRCm39) |
M1V |
probably null |
Het |
| Cdc73 |
T |
C |
1: 143,575,019 (GRCm39) |
D58G |
probably benign |
Het |
| Cgnl1 |
G |
A |
9: 71,628,994 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,183,868 (GRCm39) |
|
probably benign |
Het |
| Fam133b |
T |
C |
5: 3,604,626 (GRCm39) |
|
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,803,638 (GRCm39) |
|
probably benign |
Het |
| Golga3 |
G |
A |
5: 110,352,709 (GRCm39) |
A867T |
probably benign |
Het |
| Gpr142 |
A |
T |
11: 114,695,185 (GRCm39) |
Y50F |
probably benign |
Het |
| Gramd1c |
A |
G |
16: 43,803,865 (GRCm39) |
|
probably benign |
Het |
| Gypa |
G |
A |
8: 81,223,382 (GRCm39) |
V53I |
unknown |
Het |
| H2-DMb2 |
T |
C |
17: 34,369,561 (GRCm39) |
V235A |
probably benign |
Het |
| Igkv10-94 |
T |
C |
6: 68,681,482 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
C |
7: 125,451,195 (GRCm39) |
M1109L |
probably benign |
Het |
| Klhl17 |
T |
C |
4: 156,315,419 (GRCm39) |
Y484C |
probably damaging |
Het |
| Ltbp3 |
T |
C |
19: 5,795,456 (GRCm39) |
|
probably benign |
Het |
| Mapkbp1 |
G |
A |
2: 119,845,885 (GRCm39) |
C412Y |
probably damaging |
Het |
| Mblac2 |
C |
A |
13: 81,859,845 (GRCm39) |
C65* |
probably null |
Het |
| Or5b104 |
T |
A |
19: 13,072,494 (GRCm39) |
N173Y |
possibly damaging |
Het |
| Or6c217 |
A |
G |
10: 129,737,946 (GRCm39) |
I211T |
probably benign |
Het |
| Parn |
G |
A |
16: 13,482,593 (GRCm39) |
T85M |
probably benign |
Het |
| Pcdhb22 |
T |
C |
18: 37,653,643 (GRCm39) |
S704P |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,427,827 (GRCm39) |
F942L |
possibly damaging |
Het |
| Prox1 |
G |
T |
1: 189,879,140 (GRCm39) |
|
probably benign |
Het |
| Prss55 |
A |
T |
14: 64,319,147 (GRCm39) |
I70N |
probably damaging |
Het |
| Slc25a13 |
C |
T |
6: 6,113,937 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
T |
C |
19: 26,749,011 (GRCm39) |
|
probably null |
Het |
| Smarcc2 |
C |
A |
10: 128,297,247 (GRCm39) |
N46K |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,396,587 (GRCm39) |
|
probably null |
Het |
| Xpr1 |
A |
C |
1: 155,292,949 (GRCm39) |
I11S |
probably damaging |
Het |
| Zfp354b |
A |
C |
11: 50,814,297 (GRCm39) |
S209R |
probably benign |
Het |
| Zfp882 |
A |
G |
8: 72,667,317 (GRCm39) |
E88G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCCCTTAAACAGCCATGTAGAGT -3'
(R):5'- TGCCCAAACTGAGCCCTTTTCAC -3'
Sequencing Primer
(F):5'- tgagtagggatgagaagagagg -3'
(R):5'- CCCGGTTGGGTATACTCTCAAA -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation