Incidental Mutation 'R4539:Zbtb39'
| ID |
333459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb39
|
| Ensembl Gene |
ENSMUSG00000044617 |
| Gene Name |
zinc finger and BTB domain containing 39 |
| Synonyms |
7030401O21Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R4539 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127575407-127583218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 127578061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 212
(D212N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054287]
|
| AlphaFold |
Q6PDK0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054287
AA Change: D212N
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052717
Gene: ENSMUSG00000044617
AA Change: D212N
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
30 |
126 |
9.15e-24 |
SMART |
|
low complexity region
|
197 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
229 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
372 |
394 |
6.4e0 |
SMART |
|
ZnF_C2H2
|
400 |
420 |
3.21e1 |
SMART |
|
ZnF_C2H2
|
451 |
474 |
9.31e1 |
SMART |
|
ZnF_C2H2
|
480 |
502 |
6.92e0 |
SMART |
|
ZnF_C2H2
|
508 |
530 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
538 |
560 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
605 |
627 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
633 |
655 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
661 |
683 |
2.49e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,765,793 (GRCm39) |
T702A |
probably benign |
Het |
| Alms1 |
C |
T |
6: 85,597,460 (GRCm39) |
T762I |
possibly damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,497,070 (GRCm39) |
M465T |
probably benign |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Camta1 |
T |
C |
4: 151,169,269 (GRCm39) |
I161V |
probably benign |
Het |
| Cpeb4 |
G |
A |
11: 31,823,206 (GRCm39) |
G307S |
probably damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,481,623 (GRCm39) |
V707A |
probably damaging |
Het |
| Espn |
G |
A |
4: 152,218,665 (GRCm39) |
Q473* |
probably null |
Het |
| Fut9 |
A |
T |
4: 25,619,793 (GRCm39) |
H340Q |
probably damaging |
Het |
| Gm11554 |
A |
T |
11: 99,695,186 (GRCm39) |
|
probably benign |
Het |
| Hcar2 |
A |
G |
5: 124,002,793 (GRCm39) |
F237L |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,452,970 (GRCm39) |
C492* |
probably null |
Het |
| Lrrk2 |
C |
T |
15: 91,613,345 (GRCm39) |
P823L |
possibly damaging |
Het |
| Luzp2 |
A |
T |
7: 54,713,037 (GRCm39) |
Q91L |
probably damaging |
Het |
| Mapkapk5 |
T |
A |
5: 121,675,218 (GRCm39) |
H117L |
possibly damaging |
Het |
| Myh14 |
A |
G |
7: 44,276,478 (GRCm39) |
L1209P |
probably damaging |
Het |
| Myo3b |
T |
G |
2: 69,869,491 (GRCm39) |
M1R |
probably null |
Het |
| Nacad |
A |
T |
11: 6,550,677 (GRCm39) |
V838E |
possibly damaging |
Het |
| Neurl1a |
T |
A |
19: 47,245,183 (GRCm39) |
S458T |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,668,470 (GRCm39) |
D874G |
probably damaging |
Het |
| Phykpl |
A |
G |
11: 51,484,915 (GRCm39) |
T292A |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,219,699 (GRCm39) |
Y1003H |
probably damaging |
Het |
| Ppih |
A |
G |
4: 119,177,656 (GRCm39) |
S6P |
probably benign |
Het |
| Qrich1 |
A |
G |
9: 108,411,399 (GRCm39) |
E308G |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,069,760 (GRCm39) |
T2522A |
probably benign |
Het |
| Slc26a8 |
A |
T |
17: 28,878,591 (GRCm39) |
M332K |
probably benign |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,255,514 (GRCm39) |
V745A |
probably benign |
Het |
| Swi5 |
T |
C |
2: 32,169,092 (GRCm39) |
N118S |
possibly damaging |
Het |
| Tenm2 |
T |
C |
11: 35,937,607 (GRCm39) |
T1689A |
probably damaging |
Het |
| Ttll9 |
C |
T |
2: 152,836,011 (GRCm39) |
R252C |
probably damaging |
Het |
| Vars2 |
T |
A |
17: 35,977,780 (GRCm39) |
E80V |
probably damaging |
Het |
| Zfp418 |
C |
A |
7: 7,184,276 (GRCm39) |
Q80K |
probably benign |
Het |
| Zscan25 |
A |
G |
5: 145,225,201 (GRCm39) |
D259G |
probably benign |
Het |
|
| Other mutations in Zbtb39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01935:Zbtb39
|
APN |
10 |
127,578,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0636:Zbtb39
|
UTSW |
10 |
127,578,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0959:Zbtb39
|
UTSW |
10 |
127,578,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0959:Zbtb39
|
UTSW |
10 |
127,578,175 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0962:Zbtb39
|
UTSW |
10 |
127,578,175 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0964:Zbtb39
|
UTSW |
10 |
127,578,175 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1188:Zbtb39
|
UTSW |
10 |
127,578,175 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1189:Zbtb39
|
UTSW |
10 |
127,578,175 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1239:Zbtb39
|
UTSW |
10 |
127,578,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1341:Zbtb39
|
UTSW |
10 |
127,579,369 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1838:Zbtb39
|
UTSW |
10 |
127,578,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2012:Zbtb39
|
UTSW |
10 |
127,578,703 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2167:Zbtb39
|
UTSW |
10 |
127,578,844 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2346:Zbtb39
|
UTSW |
10 |
127,577,450 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4041:Zbtb39
|
UTSW |
10 |
127,579,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4171:Zbtb39
|
UTSW |
10 |
127,578,236 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4409:Zbtb39
|
UTSW |
10 |
127,578,696 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4410:Zbtb39
|
UTSW |
10 |
127,578,696 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5761:Zbtb39
|
UTSW |
10 |
127,578,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5766:Zbtb39
|
UTSW |
10 |
127,578,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5812:Zbtb39
|
UTSW |
10 |
127,577,429 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R6710:Zbtb39
|
UTSW |
10 |
127,579,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6919:Zbtb39
|
UTSW |
10 |
127,577,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7941:Zbtb39
|
UTSW |
10 |
127,579,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8711:Zbtb39
|
UTSW |
10 |
127,578,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Zbtb39
|
UTSW |
10 |
127,577,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Zbtb39
|
UTSW |
10 |
127,578,296 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTGTCCCTCAGTAGATCCC -3'
(R):5'- TGCTCAAACAGGAGTTGGTC -3'
Sequencing Primer
(F):5'- CACCCACCCCCTTGGAGAG -3'
(R):5'- CTGGGTTGTAATGTCTACCGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation