Incidental Mutation 'IGL01312:Zbtb24'
| ID |
73714 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zbtb24
|
| Ensembl Gene |
ENSMUSG00000019826 |
| Gene Name |
zinc finger and BTB domain containing 24 |
| Synonyms |
ZNF450 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01312
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
41326379-41341570 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 41327885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 257
(I257S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080771]
[ENSMUST00000213797]
[ENSMUST00000216656]
|
| AlphaFold |
Q80X44 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080771
AA Change: I257S
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000079592
Gene: ENSMUSG00000019826
AA Change: I257S
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
37 |
133 |
5.81e-26 |
SMART |
|
AT_hook
|
159 |
171 |
2.23e-1 |
SMART |
|
low complexity region
|
248 |
260 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
293 |
315 |
8.67e-1 |
SMART |
|
ZnF_C2H2
|
321 |
343 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
349 |
371 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
377 |
399 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
405 |
427 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
433 |
455 |
3.26e-5 |
SMART |
|
ZnF_C2H2
|
461 |
483 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
489 |
511 |
7.9e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213797
AA Change: I257S
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215881
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216656
AA Change: I257S
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protein containing eight C2H2-type zinc fingers and a BTB domain. Expression of this gene is induced by bone morphogenetic protein-2 signaling. Mutation of the related gene in humans causes immunodeficiency-centromeric instability-facial anomalies syndrome-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a deletion in the BTB domain exhibit embryonic lethality between E4.5 and E9.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankle2 |
G |
T |
5: 110,382,218 (GRCm39) |
V65L |
probably benign |
Het |
| C3 |
G |
A |
17: 57,532,993 (GRCm39) |
|
probably benign |
Het |
| Colgalt1 |
G |
A |
8: 72,075,420 (GRCm39) |
R442H |
probably damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,317,485 (GRCm39) |
M1V |
probably null |
Het |
| Etaa1 |
A |
G |
11: 17,895,909 (GRCm39) |
L736S |
probably damaging |
Het |
| Foxm1 |
T |
C |
6: 128,350,337 (GRCm39) |
F546S |
probably damaging |
Het |
| Fscn3 |
T |
C |
6: 28,434,469 (GRCm39) |
I348T |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,955,933 (GRCm39) |
D385E |
probably benign |
Het |
| Gcm2 |
T |
C |
13: 41,256,607 (GRCm39) |
T381A |
probably damaging |
Het |
| Nup153 |
T |
C |
13: 46,840,300 (GRCm39) |
T1103A |
probably benign |
Het |
| Or10ag59 |
A |
G |
2: 87,405,518 (GRCm39) |
Q30R |
probably damaging |
Het |
| Pde7b |
A |
G |
10: 20,311,940 (GRCm39) |
|
probably null |
Het |
| Shld2 |
T |
C |
14: 33,990,150 (GRCm39) |
D252G |
possibly damaging |
Het |
| St7 |
T |
A |
6: 17,922,013 (GRCm39) |
I361N |
probably damaging |
Het |
| Stard5 |
C |
T |
7: 83,282,397 (GRCm39) |
P70L |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
| Tas2r134 |
T |
A |
2: 51,518,247 (GRCm39) |
L242H |
probably damaging |
Het |
| Tnrc6b |
G |
A |
15: 80,807,779 (GRCm39) |
R1577H |
probably damaging |
Het |
| Trappc11 |
C |
A |
8: 47,958,712 (GRCm39) |
A716S |
possibly damaging |
Het |
| Wdr35 |
C |
T |
12: 9,058,655 (GRCm39) |
T604M |
probably damaging |
Het |
|
| Other mutations in Zbtb24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R7189_Zbtb24_504
|
UTSW |
10 |
41,340,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB009:Zbtb24
|
UTSW |
10 |
41,327,504 (GRCm39) |
missense |
probably benign |
|
|
BB019:Zbtb24
|
UTSW |
10 |
41,327,504 (GRCm39) |
missense |
probably benign |
|
|
R0485:Zbtb24
|
UTSW |
10 |
41,340,532 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0553:Zbtb24
|
UTSW |
10 |
41,327,993 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0662:Zbtb24
|
UTSW |
10 |
41,338,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0927:Zbtb24
|
UTSW |
10 |
41,327,432 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1164:Zbtb24
|
UTSW |
10 |
41,340,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1456:Zbtb24
|
UTSW |
10 |
41,340,989 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1464:Zbtb24
|
UTSW |
10 |
41,331,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Zbtb24
|
UTSW |
10 |
41,331,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Zbtb24
|
UTSW |
10 |
41,327,123 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2299:Zbtb24
|
UTSW |
10 |
41,340,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2371:Zbtb24
|
UTSW |
10 |
41,327,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4280:Zbtb24
|
UTSW |
10 |
41,340,916 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4281:Zbtb24
|
UTSW |
10 |
41,340,916 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4593:Zbtb24
|
UTSW |
10 |
41,327,953 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4991:Zbtb24
|
UTSW |
10 |
41,332,614 (GRCm39) |
splice site |
probably null |
|
|
R5262:Zbtb24
|
UTSW |
10 |
41,340,556 (GRCm39) |
nonsense |
probably null |
|
|
R5371:Zbtb24
|
UTSW |
10 |
41,327,537 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5393:Zbtb24
|
UTSW |
10 |
41,340,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5428:Zbtb24
|
UTSW |
10 |
41,340,784 (GRCm39) |
missense |
probably benign |
|
|
R5785:Zbtb24
|
UTSW |
10 |
41,327,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6033:Zbtb24
|
UTSW |
10 |
41,340,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Zbtb24
|
UTSW |
10 |
41,340,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6961:Zbtb24
|
UTSW |
10 |
41,331,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7189:Zbtb24
|
UTSW |
10 |
41,340,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7407:Zbtb24
|
UTSW |
10 |
41,340,775 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7932:Zbtb24
|
UTSW |
10 |
41,327,504 (GRCm39) |
missense |
probably benign |
|
|
R8074:Zbtb24
|
UTSW |
10 |
41,327,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9365:Zbtb24
|
UTSW |
10 |
41,332,540 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9484:Zbtb24
|
UTSW |
10 |
41,327,429 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Zbtb24
|
UTSW |
10 |
41,331,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation