Incidental Mutation 'R2299:Zbtb24'
| ID |
245271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb24
|
| Ensembl Gene |
ENSMUSG00000019826 |
| Gene Name |
zinc finger and BTB domain containing 24 |
| Synonyms |
ZNF450 |
| MMRRC Submission |
040298-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2299 (G1)
|
| Quality Score |
123 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41326379-41341570 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 41340577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 536
(V536M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080771]
[ENSMUST00000213797]
|
| AlphaFold |
Q80X44 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080771
AA Change: V558M
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000079592
Gene: ENSMUSG00000019826
AA Change: V558M
| 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 |
probably damaging
Transcript: ENSMUST00000213797
AA Change: V536M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215881
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,971,845 (GRCm39) |
N68S |
possibly damaging |
Het |
| 5031439G07Rik |
A |
C |
15: 84,837,486 (GRCm39) |
F276V |
possibly damaging |
Het |
| Abca12 |
C |
T |
1: 71,297,381 (GRCm39) |
V2370I |
probably damaging |
Het |
| Acsl3 |
T |
G |
1: 78,676,827 (GRCm39) |
C469W |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 95,665,204 (GRCm39) |
I372F |
possibly damaging |
Het |
| Ankrd42 |
A |
G |
7: 92,239,462 (GRCm39) |
I442T |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Bmpr1b |
C |
A |
3: 141,550,963 (GRCm39) |
R376L |
probably damaging |
Het |
| C1qtnf6 |
T |
A |
15: 78,409,542 (GRCm39) |
T102S |
probably benign |
Het |
| Chordc1 |
T |
C |
9: 18,213,404 (GRCm39) |
L85P |
probably damaging |
Het |
| Clec2j |
T |
A |
6: 128,632,199 (GRCm39) |
|
noncoding transcript |
Het |
| Copa |
T |
C |
1: 171,949,292 (GRCm39) |
I1223T |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyfip2 |
T |
A |
11: 46,176,958 (GRCm39) |
E74V |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,473,207 (GRCm39) |
D760V |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,513,199 (GRCm39) |
L32P |
probably damaging |
Het |
| Galnt13 |
A |
T |
2: 54,950,595 (GRCm39) |
R425S |
possibly damaging |
Het |
| Gm4559 |
A |
T |
7: 141,827,572 (GRCm39) |
C177S |
unknown |
Het |
| H2bc9 |
A |
G |
13: 23,727,354 (GRCm39) |
S57P |
probably damaging |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Kansl1l |
T |
C |
1: 66,812,636 (GRCm39) |
D459G |
probably damaging |
Het |
| Limd1 |
A |
T |
9: 123,345,942 (GRCm39) |
K574* |
probably null |
Het |
| Mmrn1 |
A |
G |
6: 60,953,425 (GRCm39) |
K569E |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,700,789 (GRCm39) |
W95R |
probably damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,356,571 (GRCm39) |
M315V |
probably benign |
Het |
| Prss21 |
A |
G |
17: 24,088,563 (GRCm39) |
E176G |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,221,581 (GRCm39) |
I173T |
possibly damaging |
Het |
| Rit1 |
T |
A |
3: 88,633,377 (GRCm39) |
|
probably null |
Het |
| Rnf14 |
C |
T |
18: 38,441,138 (GRCm39) |
A176V |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,562,922 (GRCm39) |
V311E |
possibly damaging |
Het |
| Slc28a2 |
C |
T |
2: 122,272,259 (GRCm39) |
Q34* |
probably null |
Het |
| Spire1 |
A |
C |
18: 67,663,493 (GRCm39) |
L36R |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,080,258 (GRCm39) |
V463E |
probably damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,815,944 (GRCm39) |
L813S |
possibly damaging |
Het |
| Vmn1r174 |
A |
T |
7: 23,453,429 (GRCm39) |
I32F |
probably benign |
Het |
|
| Other mutations in Zbtb24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01312:Zbtb24
|
APN |
10 |
41,327,885 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACAGTTCGCTCGCCTAGACAAT -3'
(R):5'- TACTGAGCTGGTTGTTTGCTCCT -3'
Sequencing Primer
(F):5'- GAAGGCACACTTGAAAATCC -3'
(R):5'- TGGAGATGCTCCAGCGTTTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation