Incidental Mutation 'IGL01021:Zbtb43'
| ID |
53460 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zbtb43
|
| Ensembl Gene |
ENSMUSG00000026788 |
| Gene Name |
zinc finger and BTB domain containing 43 |
| Synonyms |
Zfp297b, 1700010E06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01021
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
33340299-33358571 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33343771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 485
(T485A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028125]
[ENSMUST00000095035]
[ENSMUST00000113156]
[ENSMUST00000126442]
[ENSMUST00000155198]
|
| AlphaFold |
Q9DAI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028125
AA Change: T448A
PolyPhen 2
Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000028125
Gene: ENSMUSG00000026788
AA Change: T448A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
32 |
N/A |
INTRINSIC |
|
BTB
|
33 |
127 |
4.98e-25 |
SMART |
|
ZnF_C2H2
|
373 |
394 |
1.2e1 |
SMART |
|
ZnF_C2H2
|
400 |
422 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
428 |
448 |
2.01e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095035
AA Change: T485A
PolyPhen 2
Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000092645
Gene: ENSMUSG00000026788
AA Change: T485A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
|
BTB
|
70 |
164 |
4.98e-25 |
SMART |
|
ZnF_C2H2
|
410 |
431 |
1.2e1 |
SMART |
|
ZnF_C2H2
|
437 |
459 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
465 |
485 |
2.01e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113156
AA Change: T485A
PolyPhen 2
Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108781
Gene: ENSMUSG00000026788
AA Change: T485A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
32 |
N/A |
INTRINSIC |
|
BTB
|
33 |
127 |
4.98e-25 |
SMART |
|
ZnF_C2H2
|
373 |
394 |
1.2e1 |
SMART |
|
ZnF_C2H2
|
400 |
422 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
428 |
448 |
2.01e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126442
|
| SMART Domains |
Protein: ENSMUSP00000122729
Gene: ENSMUSG00000026788
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
23 |
69 |
6.1e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132913
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155198
|
| SMART Domains |
Protein: ENSMUSP00000120989
Gene: ENSMUSG00000026788
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
32 |
N/A |
INTRINSIC |
|
BTB
|
33 |
127 |
4.98e-25 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533L02Rik |
T |
C |
7: 124,917,848 (GRCm39) |
V80A |
unknown |
Het |
| Adam28 |
A |
G |
14: 68,879,563 (GRCm39) |
S162P |
probably benign |
Het |
| Adamts14 |
G |
T |
10: 61,061,152 (GRCm39) |
S426Y |
probably damaging |
Het |
| Ankrd24 |
A |
G |
10: 81,470,995 (GRCm39) |
|
probably null |
Het |
| B3galt5 |
C |
A |
16: 96,116,923 (GRCm39) |
H185Q |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,995,516 (GRCm39) |
|
probably benign |
Het |
| Ddx46 |
T |
A |
13: 55,814,145 (GRCm39) |
Y700* |
probably null |
Het |
| Dph7 |
T |
G |
2: 24,861,935 (GRCm39) |
|
probably null |
Het |
| Eif1ad9 |
G |
A |
12: 88,296,042 (GRCm39) |
G7R |
unknown |
Het |
| Fcho1 |
A |
T |
8: 72,166,167 (GRCm39) |
Y354* |
probably null |
Het |
| Fnbp4 |
A |
G |
2: 90,608,013 (GRCm39) |
M912V |
probably benign |
Het |
| Fpgt |
T |
A |
3: 154,797,129 (GRCm39) |
E42V |
possibly damaging |
Het |
| Frmd3 |
A |
G |
4: 73,992,357 (GRCm39) |
I75V |
possibly damaging |
Het |
| Gm3278 |
G |
T |
14: 16,082,261 (GRCm39) |
V159L |
possibly damaging |
Het |
| Gmds |
T |
C |
13: 32,311,013 (GRCm39) |
I205V |
possibly damaging |
Het |
| Gprin1 |
T |
A |
13: 54,888,182 (GRCm39) |
S31C |
probably damaging |
Het |
| Igkv4-68 |
T |
C |
6: 69,281,865 (GRCm39) |
E102G |
probably damaging |
Het |
| Itga1 |
T |
A |
13: 115,133,536 (GRCm39) |
Y458F |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,915,660 (GRCm39) |
V479A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,037,799 (GRCm39) |
W772R |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,217,075 (GRCm39) |
I2533F |
possibly damaging |
Het |
| Npas3 |
T |
C |
12: 54,050,343 (GRCm39) |
S258P |
probably damaging |
Het |
| Padi3 |
T |
C |
4: 140,523,645 (GRCm39) |
|
probably benign |
Het |
| Pmfbp1 |
G |
T |
8: 110,264,625 (GRCm39) |
R897L |
possibly damaging |
Het |
| Rims1 |
A |
T |
1: 22,525,701 (GRCm39) |
W407R |
probably damaging |
Het |
| Scnn1b |
G |
T |
7: 121,517,259 (GRCm39) |
D632Y |
probably damaging |
Het |
| Tas2r123 |
G |
A |
6: 132,824,369 (GRCm39) |
A89T |
probably benign |
Het |
| Tbk1 |
T |
C |
10: 121,387,177 (GRCm39) |
E706G |
probably benign |
Het |
| Thra |
A |
G |
11: 98,653,754 (GRCm39) |
D195G |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 43,973,347 (GRCm39) |
Y33* |
probably null |
Het |
| Usp6nl |
T |
A |
2: 6,429,198 (GRCm39) |
M220K |
probably damaging |
Het |
| Vmn2r112 |
C |
T |
17: 22,837,885 (GRCm39) |
T782I |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,042,015 (GRCm39) |
I840V |
possibly damaging |
Het |
|
| Other mutations in Zbtb43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01302:Zbtb43
|
APN |
2 |
33,344,103 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02163:Zbtb43
|
APN |
2 |
33,343,795 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL03212:Zbtb43
|
APN |
2 |
33,344,286 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0084:Zbtb43
|
UTSW |
2 |
33,343,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0400:Zbtb43
|
UTSW |
2 |
33,343,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2136:Zbtb43
|
UTSW |
2 |
33,344,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4528:Zbtb43
|
UTSW |
2 |
33,352,337 (GRCm39) |
intron |
probably benign |
|
|
R4609:Zbtb43
|
UTSW |
2 |
33,344,055 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4856:Zbtb43
|
UTSW |
2 |
33,343,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5131:Zbtb43
|
UTSW |
2 |
33,344,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5984:Zbtb43
|
UTSW |
2 |
33,344,272 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6606:Zbtb43
|
UTSW |
2 |
33,345,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7189:Zbtb43
|
UTSW |
2 |
33,352,307 (GRCm39) |
missense |
probably benign |
|
|
R7837:Zbtb43
|
UTSW |
2 |
33,343,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8355:Zbtb43
|
UTSW |
2 |
33,345,120 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2013-06-28 |
Incidental Mutation