Incidental Mutation 'IGL02163:Zbtb43'
| ID |
282549 |
| 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 # |
IGL02163
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
33340299-33358571 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33343795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 477
(R477G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028125]
[ENSMUST00000095035]
[ENSMUST00000113156]
[ENSMUST00000126442]
[ENSMUST00000155198]
|
| AlphaFold |
Q9DAI4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028125
AA Change: R440G
PolyPhen 2
Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000028125
Gene: ENSMUSG00000026788
AA Change: R440G
| 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 |
possibly damaging
Transcript: ENSMUST00000095035
AA Change: R477G
PolyPhen 2
Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000092645
Gene: ENSMUSG00000026788
AA Change: R477G
| 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 |
possibly damaging
Transcript: ENSMUST00000113156
AA Change: R477G
PolyPhen 2
Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108781
Gene: ENSMUSG00000026788
AA Change: R477G
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
T |
C |
15: 37,439,852 (GRCm39) |
|
probably benign |
Het |
| Armh4 |
A |
G |
14: 50,011,614 (GRCm39) |
V31A |
possibly damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cap1 |
C |
T |
4: 122,756,209 (GRCm39) |
V396I |
probably benign |
Het |
| Ccdc80 |
T |
C |
16: 44,916,477 (GRCm39) |
V411A |
probably benign |
Het |
| Cyp2w1 |
T |
A |
5: 139,341,920 (GRCm39) |
M111K |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,559,315 (GRCm39) |
V687A |
possibly damaging |
Het |
| Fam184a |
T |
C |
10: 53,523,230 (GRCm39) |
|
probably null |
Het |
| Fhip1a |
A |
G |
3: 85,595,859 (GRCm39) |
F342S |
possibly damaging |
Het |
| Foxred1 |
A |
T |
9: 35,117,192 (GRCm39) |
L313H |
probably damaging |
Het |
| Gm38392 |
G |
A |
3: 88,152,887 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,733,109 (GRCm39) |
|
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,060,900 (GRCm39) |
M591K |
probably damaging |
Het |
| Ncr1 |
A |
T |
7: 4,344,262 (GRCm39) |
S217C |
possibly damaging |
Het |
| Or10al7 |
T |
C |
17: 38,365,641 (GRCm39) |
H281R |
probably benign |
Het |
| Or1e1 |
T |
A |
11: 73,245,320 (GRCm39) |
V247E |
probably damaging |
Het |
| Pds5b |
T |
C |
5: 150,679,871 (GRCm39) |
F526L |
probably benign |
Het |
| Plekhh2 |
A |
T |
17: 84,898,223 (GRCm39) |
S955C |
probably benign |
Het |
| Prpf19 |
T |
A |
19: 10,879,800 (GRCm39) |
S307R |
probably benign |
Het |
| Pwp2 |
G |
A |
10: 78,014,119 (GRCm39) |
P456S |
possibly damaging |
Het |
| Rgs8 |
C |
A |
1: 153,547,511 (GRCm39) |
T47K |
possibly damaging |
Het |
| Samd9l |
T |
A |
6: 3,374,246 (GRCm39) |
N1005I |
possibly damaging |
Het |
| Tmc4 |
A |
G |
7: 3,669,824 (GRCm39) |
L20P |
probably damaging |
Het |
| Ttc21a |
C |
T |
9: 119,779,901 (GRCm39) |
Q403* |
probably null |
Het |
|
| Other mutations in Zbtb43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01021:Zbtb43
|
APN |
2 |
33,343,771 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01302:Zbtb43
|
APN |
2 |
33,344,103 (GRCm39) |
missense |
probably benign |
0.19 |
|
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 |
2015-04-16 |
Incidental Mutation