Incidental Mutation 'R4281:Zbtb24'
| ID |
322905 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb24
|
| Ensembl Gene |
ENSMUSG00000019826 |
| Gene Name |
zinc finger and BTB domain containing 24 |
| Synonyms |
ZNF450 |
| MMRRC Submission |
041649-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4281 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41326379-41341570 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41340916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 649
(S649P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080771]
[ENSMUST00000213797]
|
| AlphaFold |
Q80X44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080771
AA Change: S671P
PolyPhen 2
Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000079592
Gene: ENSMUSG00000019826
AA Change: S671P
| 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: S649P
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215881
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
92% (44/48) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| B9d2 |
A |
G |
7: 25,380,851 (GRCm39) |
T14A |
possibly damaging |
Het |
| Cavin3 |
A |
C |
7: 105,130,981 (GRCm39) |
|
probably null |
Het |
| Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
| Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,252,378 (GRCm39) |
H429Q |
probably benign |
Het |
| Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
| Evc2 |
T |
C |
5: 37,495,938 (GRCm39) |
V16A |
probably benign |
Het |
| Fam210b |
T |
C |
2: 172,193,468 (GRCm39) |
Y94H |
probably damaging |
Het |
| Gimap8 |
A |
C |
6: 48,635,754 (GRCm39) |
R506S |
probably benign |
Het |
| Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Gsn |
A |
G |
2: 35,188,883 (GRCm39) |
Y434C |
probably damaging |
Het |
| Gtf2a1l |
A |
G |
17: 89,019,065 (GRCm39) |
N383S |
possibly damaging |
Het |
| Hepacam2 |
G |
A |
6: 3,475,938 (GRCm39) |
T329I |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,006,167 (GRCm39) |
V526A |
probably benign |
Het |
| Magea14 |
T |
C |
X: 51,057,867 (GRCm39) |
Y273C |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,167,371 (GRCm39) |
K456R |
probably benign |
Het |
| Nox4 |
A |
G |
7: 86,946,732 (GRCm39) |
I143V |
possibly damaging |
Het |
| Or11h7 |
T |
C |
14: 50,891,029 (GRCm39) |
C112R |
probably benign |
Het |
| Or12j3 |
A |
G |
7: 139,953,385 (GRCm39) |
I46T |
probably benign |
Het |
| Pcdh18 |
A |
G |
3: 49,710,982 (GRCm39) |
L111P |
possibly damaging |
Het |
| Pnma5 |
T |
C |
X: 72,079,036 (GRCm39) |
M549V |
probably benign |
Het |
| Pnpla6 |
T |
C |
8: 3,571,513 (GRCm39) |
L148P |
probably damaging |
Het |
| Ppp4r3c1 |
A |
T |
X: 88,976,105 (GRCm39) |
W31R |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,623,963 (GRCm39) |
|
probably null |
Het |
| Rars1 |
T |
C |
11: 35,712,051 (GRCm39) |
E275G |
probably damaging |
Het |
| Rasa3 |
A |
G |
8: 13,638,946 (GRCm39) |
V287A |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,865,404 (GRCm39) |
R641Q |
possibly damaging |
Het |
| Slco6b1 |
A |
G |
1: 96,925,115 (GRCm39) |
|
noncoding transcript |
Het |
| Sned1 |
A |
T |
1: 93,213,577 (GRCm39) |
R426* |
probably null |
Het |
| Tmem132a |
C |
G |
19: 10,839,090 (GRCm39) |
E451Q |
possibly damaging |
Het |
| Tmem229b-ps |
A |
G |
10: 53,351,474 (GRCm39) |
|
noncoding transcript |
Het |
| Trim33 |
T |
A |
3: 103,236,402 (GRCm39) |
V504D |
probably damaging |
Het |
| Usp47 |
A |
T |
7: 111,709,200 (GRCm39) |
E1315D |
probably benign |
Het |
| Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
probably benign |
Het |
| Zfp612 |
A |
G |
8: 110,816,691 (GRCm39) |
I594V |
probably damaging |
Het |
| Zfp692 |
T |
C |
11: 58,205,091 (GRCm39) |
F447L |
probably damaging |
Het |
| Zranb3 |
A |
C |
1: 127,891,614 (GRCm39) |
S787R |
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 |
|
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 |
|
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'- GAGCACATTCAGAGCCTCAG -3'
(R):5'- GACAAAGTAGATCAAATTGGAACCC -3'
Sequencing Primer
(F):5'- CACATTCAGAGCCTCAGTGTGATTG -3'
(R):5'- CCCCCTCATTTAAGTATGAGTTGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation