Incidental Mutation 'R5785:Zbtb24'
| ID |
447972 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb24
|
| Ensembl Gene |
ENSMUSG00000019826 |
| Gene Name |
zinc finger and BTB domain containing 24 |
| Synonyms |
ZNF450 |
| MMRRC Submission |
043206-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5785 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
41326379-41341570 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 41327849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 245
(G245E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080771]
[ENSMUST00000213797]
[ENSMUST00000216656]
|
| AlphaFold |
Q80X44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080771
AA Change: G245E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000079592
Gene: ENSMUSG00000019826
AA Change: G245E
| 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 benign
Transcript: ENSMUST00000213797
AA Change: G245E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215881
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216656
AA Change: G245E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
T |
9: 99,502,725 (GRCm39) |
N295I |
probably damaging |
Het |
| Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
| Apbb1 |
C |
A |
7: 105,216,922 (GRCm39) |
D254Y |
probably damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,621,618 (GRCm39) |
M328V |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,440,325 (GRCm39) |
V143D |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,704,996 (GRCm39) |
D493G |
probably damaging |
Het |
| Cers4 |
T |
A |
8: 4,566,992 (GRCm39) |
|
probably null |
Het |
| Clec4d |
A |
G |
6: 123,251,729 (GRCm39) |
R204G |
probably benign |
Het |
| Cngb1 |
C |
A |
8: 95,980,823 (GRCm39) |
R910L |
possibly damaging |
Het |
| Coro2a |
A |
T |
4: 46,564,691 (GRCm39) |
N18K |
probably benign |
Het |
| Cwf19l1 |
A |
G |
19: 44,110,380 (GRCm39) |
F290S |
probably damaging |
Het |
| Esp18 |
C |
T |
17: 39,720,839 (GRCm39) |
T28I |
probably damaging |
Het |
| Hdac10 |
A |
T |
15: 89,011,148 (GRCm39) |
F205Y |
probably benign |
Het |
| Hhip |
T |
A |
8: 80,724,821 (GRCm39) |
H317L |
possibly damaging |
Het |
| Il36b |
G |
A |
2: 24,044,661 (GRCm39) |
M20I |
probably benign |
Het |
| Ilf3 |
T |
A |
9: 21,306,168 (GRCm39) |
N276K |
probably damaging |
Het |
| Jchain |
T |
C |
5: 88,670,376 (GRCm39) |
N81S |
probably benign |
Het |
| Mei4 |
A |
G |
9: 81,907,600 (GRCm39) |
Y211C |
probably damaging |
Het |
| Mx2 |
A |
T |
16: 97,339,904 (GRCm39) |
E20V |
possibly damaging |
Het |
| Ndufa10 |
A |
G |
1: 92,388,096 (GRCm39) |
|
probably null |
Het |
| Nodal |
A |
G |
10: 61,259,456 (GRCm39) |
T298A |
probably damaging |
Het |
| Nvl |
T |
C |
1: 180,966,863 (GRCm39) |
Y47C |
probably damaging |
Het |
| Onecut1 |
C |
T |
9: 74,770,674 (GRCm39) |
R366C |
probably damaging |
Het |
| Or9q1 |
T |
C |
19: 13,804,983 (GRCm39) |
Y259C |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Ppp5c |
A |
G |
7: 16,761,616 (GRCm39) |
|
probably null |
Het |
| Prag1 |
A |
G |
8: 36,570,641 (GRCm39) |
E408G |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,648,809 (GRCm39) |
N949S |
probably damaging |
Het |
| Scn7a |
A |
C |
2: 66,527,912 (GRCm39) |
N859K |
possibly damaging |
Het |
| Smarca4 |
T |
C |
9: 21,597,322 (GRCm39) |
I1362T |
probably damaging |
Het |
| Syt12 |
T |
C |
19: 4,501,022 (GRCm39) |
R343G |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,200,727 (GRCm39) |
S587P |
probably benign |
Het |
| Trim80 |
C |
T |
11: 115,337,301 (GRCm39) |
Q388* |
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,818,861 (GRCm39) |
|
probably null |
Het |
| Vmn2r130 |
T |
A |
17: 23,280,461 (GRCm39) |
S41T |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,166,444 (GRCm39) |
T896S |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,340,006 (GRCm39) |
E749G |
probably damaging |
Het |
| Zfp507 |
A |
G |
7: 35,487,167 (GRCm39) |
V767A |
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 |
|
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 |
|
|
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'- CCAATGGTTTGCAGGAAGGG -3'
(R):5'- GACTCTGTCGCAGTCTTTACAC -3'
Sequencing Primer
(F):5'- CAGCTGAGAGTGAACAATTCAGTTC -3'
(R):5'- AGTCTTTACACCGGGCCTCG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation