Incidental Mutation 'R0553:Zbtb24'
| ID |
45290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb24
|
| Ensembl Gene |
ENSMUSG00000019826 |
| Gene Name |
zinc finger and BTB domain containing 24 |
| Synonyms |
ZNF450 |
| MMRRC Submission |
038745-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0553 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41326379-41341570 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 41327993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 293
(A293V)
|
| 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: A293V
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000079592
Gene: ENSMUSG00000019826
AA Change: A293V
| 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: A293V
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215881
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216656
AA Change: A293V
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1604 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
100% (42/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
A |
T |
4: 122,596,128 (GRCm39) |
M120L |
unknown |
Het |
| Aadacl4fm5 |
T |
A |
4: 144,503,985 (GRCm39) |
I389L |
possibly damaging |
Het |
| Adamts13 |
T |
A |
2: 26,881,346 (GRCm39) |
C774* |
probably null |
Het |
| Amh |
A |
G |
10: 80,642,010 (GRCm39) |
|
probably benign |
Het |
| Armh4 |
T |
C |
14: 49,920,143 (GRCm39) |
I729V |
probably damaging |
Het |
| Cd40 |
G |
A |
2: 164,912,661 (GRCm39) |
R204Q |
probably benign |
Het |
| Cfap210 |
C |
A |
2: 69,619,785 (GRCm39) |
R8L |
probably damaging |
Het |
| Clhc1 |
A |
C |
11: 29,511,366 (GRCm39) |
|
probably benign |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,891 (GRCm39) |
H973L |
unknown |
Het |
| Fut2 |
T |
A |
7: 45,300,698 (GRCm39) |
I25F |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 58,005,464 (GRCm39) |
|
probably benign |
Het |
| Gmppb |
A |
T |
9: 107,926,996 (GRCm39) |
M56L |
probably benign |
Het |
| Grm3 |
C |
A |
5: 9,620,048 (GRCm39) |
A399S |
probably benign |
Het |
| H2-T5 |
G |
T |
17: 36,478,949 (GRCm39) |
P100Q |
probably damaging |
Het |
| Hey2 |
G |
A |
10: 30,716,485 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,433,186 (GRCm39) |
|
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,184,447 (GRCm39) |
C92F |
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,282,609 (GRCm39) |
D229G |
probably damaging |
Het |
| Klf11 |
C |
G |
12: 24,705,089 (GRCm39) |
P164R |
probably benign |
Het |
| Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
| Krtcap3 |
T |
C |
5: 31,409,147 (GRCm39) |
V6A |
probably benign |
Het |
| Ltbr |
A |
C |
6: 125,290,351 (GRCm39) |
|
probably null |
Het |
| Mmp17 |
T |
G |
5: 129,675,734 (GRCm39) |
S298A |
probably benign |
Het |
| Nacc2 |
T |
A |
2: 25,979,602 (GRCm39) |
E278V |
possibly damaging |
Het |
| Or5k8 |
A |
T |
16: 58,644,518 (GRCm39) |
Y185N |
probably damaging |
Het |
| Or8b12b |
T |
A |
9: 37,684,627 (GRCm39) |
I224N |
probably benign |
Het |
| Otop2 |
C |
T |
11: 115,220,288 (GRCm39) |
A376V |
probably damaging |
Het |
| Pdia2 |
T |
C |
17: 26,415,217 (GRCm39) |
E504G |
probably damaging |
Het |
| Pdzph1 |
C |
T |
17: 59,229,722 (GRCm39) |
V979M |
probably damaging |
Het |
| Pou5f1 |
A |
G |
17: 35,820,374 (GRCm39) |
K86R |
possibly damaging |
Het |
| Ptprq |
A |
G |
10: 107,546,488 (GRCm39) |
F269L |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,449,152 (GRCm39) |
C659* |
probably null |
Het |
| Rnf8 |
T |
C |
17: 29,840,613 (GRCm39) |
|
probably null |
Het |
| Rras |
T |
G |
7: 44,669,980 (GRCm39) |
I137M |
probably benign |
Het |
| Slc38a9 |
A |
T |
13: 112,850,732 (GRCm39) |
H372L |
probably damaging |
Het |
| Spata9 |
T |
C |
13: 76,125,898 (GRCm39) |
|
probably null |
Het |
| Tas2r115 |
T |
C |
6: 132,714,922 (GRCm39) |
T10A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,629,237 (GRCm39) |
E12621G |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,545,828 (GRCm39) |
I460F |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Zpld2 |
T |
C |
4: 133,929,829 (GRCm39) |
T159A |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAGAACTTTGACCCCAAGGCTG -3'
(R):5'- AGACCATCTCCTCATCTGCACACTG -3'
Sequencing Primer
(F):5'- CCAAGGCTGGGGATGGAC -3'
(R):5'- CACTGGAGATAGTACCTACTGTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation