Incidental Mutation 'R2371:Zbtb24'
| ID |
247532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb24
|
| Ensembl Gene |
ENSMUSG00000019826 |
| Gene Name |
zinc finger and BTB domain containing 24 |
| Synonyms |
ZNF450 |
| MMRRC Submission |
040351-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2371 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
41326379-41341570 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 41327264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 50
(A50V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080771]
[ENSMUST00000213797]
[ENSMUST00000216656]
|
| AlphaFold |
Q80X44 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080771
AA Change: A50V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079592
Gene: ENSMUSG00000019826
AA Change: A50V
| 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: A50V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215881
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216656
AA Change: A50V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.0%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Adamts18 |
T |
A |
8: 114,431,893 (GRCm39) |
E1105V |
probably benign |
Het |
| Colec10 |
A |
G |
15: 54,325,796 (GRCm39) |
I209V |
possibly damaging |
Het |
| Cttnbp2 |
T |
G |
6: 18,380,603 (GRCm39) |
S1422R |
possibly damaging |
Het |
| Dcst1 |
C |
G |
3: 89,265,949 (GRCm39) |
V179L |
possibly damaging |
Het |
| Fbxw9 |
T |
C |
8: 85,788,658 (GRCm39) |
Y165H |
probably benign |
Het |
| Fgl2 |
A |
T |
5: 21,580,816 (GRCm39) |
Y386F |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,482,691 (GRCm39) |
Y183C |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 94,068,926 (GRCm39) |
L245P |
probably damaging |
Het |
| Hormad1 |
T |
A |
3: 95,482,910 (GRCm39) |
I132K |
probably benign |
Het |
| Itga8 |
A |
T |
2: 12,258,277 (GRCm39) |
D262E |
probably damaging |
Het |
| Jhy |
G |
A |
9: 40,828,778 (GRCm39) |
T376I |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,107,323 (GRCm39) |
L1592P |
probably damaging |
Het |
| Kif3b |
T |
C |
2: 153,164,743 (GRCm39) |
I587T |
possibly damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,866,697 (GRCm39) |
Y1015H |
probably damaging |
Het |
| Lvrn |
T |
G |
18: 47,011,230 (GRCm39) |
|
probably null |
Het |
| Mapkbp1 |
C |
A |
2: 119,841,261 (GRCm39) |
Q83K |
probably damaging |
Het |
| Or2g25 |
T |
C |
17: 37,971,044 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or5b12 |
A |
T |
19: 12,897,031 (GRCm39) |
I214N |
probably benign |
Het |
| Pigc |
T |
C |
1: 161,798,579 (GRCm39) |
V187A |
possibly damaging |
Het |
| Ros1 |
A |
T |
10: 52,039,991 (GRCm39) |
H333Q |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,100,513 (GRCm39) |
F215L |
probably benign |
Het |
| Rtcb |
C |
T |
10: 85,779,697 (GRCm39) |
M324I |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,837,125 (GRCm39) |
I125V |
possibly damaging |
Het |
| Shroom3 |
A |
G |
5: 92,928,729 (GRCm39) |
K95E |
probably damaging |
Het |
| Wrnip1 |
C |
T |
13: 32,986,410 (GRCm39) |
P64S |
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 |
|
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'- GGTTGTGACAGCTGGAACAC -3'
(R):5'- GTCGTTTTCTCACTGGCATG -3'
Sequencing Primer
(F):5'- ACACGAACAGTCTAGTTAGGC -3'
(R):5'- CTCACTGGCATGTAGATAACCTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation