Mutagenetix > Incidental Mutation

Incidental Mutation 'R5262:Zbtb24'

401510

Institutional Source

Beutler Lab

Gene Symbol

Zbtb24

Ensembl Gene

ENSMUSG00000019826

Gene Name

zinc finger and BTB domain containing 24

Synonyms

ZNF450

MMRRC Submission

042857-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5262 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

41326379-41341570 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 41340556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 529 (Q529*)

Ref Sequence

ENSEMBL: ENSMUSP00000148861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080771] [ENSMUST00000213797]

AlphaFold

Q80X44

Predicted Effect

probably null
Transcript: ENSMUST00000080771
AA Change: Q551*

SMART Domains

Protein: ENSMUSP00000079592
Gene: ENSMUSG00000019826
AA Change: Q551*

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 null
Transcript: ENSMUST00000213797
AA Change: Q529*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215881

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

98% (61/62)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	T	A	4: 126,390,557 (GRCm39)	D821V	possibly damaging	Het
Ankdd1b	C	A	13: 96,557,281 (GRCm39)	R384L	probably damaging	Het
Ces1e	A	G	8: 93,950,586 (GRCm39)	F65S	probably damaging	Het
Cfap53	A	C	18: 74,462,530 (GRCm39)	S425R	probably benign	Het
Corin	A	G	5: 72,462,298 (GRCm39)	V837A	probably damaging	Het
Cyp2d34	A	T	15: 82,502,572 (GRCm39)	V188E	probably damaging	Het
Defb26	A	T	2: 152,349,878 (GRCm39)	M134K	unknown	Het
Dnah10	A	C	5: 124,862,220 (GRCm39)	K2158N	probably damaging	Het
Dnah9	C	T	11: 66,003,159 (GRCm39)	V882M	probably benign	Het
Dpyd	C	A	3: 118,591,071 (GRCm39)	Y186*	probably null	Het
Elovl1	G	A	4: 118,288,124 (GRCm39)		probably benign	Het
Fars2	T	A	13: 36,526,001 (GRCm39)	I329N	probably damaging	Het
Gstm1	T	A	3: 107,923,679 (GRCm39)	M109L	probably benign	Het
Gtf2e1	T	C	16: 37,356,293 (GRCm39)	T80A	probably damaging	Het
Gtf2h2	A	G	13: 100,618,356 (GRCm39)		probably benign	Het
Hrh4	G	T	18: 13,148,870 (GRCm39)	L77F	probably damaging	Het
Ifi47	A	G	11: 48,986,559 (GRCm39)	T109A	probably benign	Het
Igsf5	G	T	16: 96,192,237 (GRCm39)	E179*	probably null	Het
Ints8	A	G	4: 11,211,916 (GRCm39)	I885T	probably damaging	Het
Iqgap1	T	G	7: 80,376,490 (GRCm39)	I1341L	probably benign	Het
Kmt2b	A	G	7: 30,269,219 (GRCm39)	L2567P	probably damaging	Het
Lilrb4a	T	C	10: 51,369,303 (GRCm39)		probably null	Het
Maip1	G	A	1: 57,446,131 (GRCm39)	R67H	probably damaging	Het
Muc6	T	A	7: 141,237,375 (GRCm39)	I254F	possibly damaging	Het
Nfkb1	A	T	3: 135,318,173 (GRCm39)		probably null	Het
Nlrp4a	T	C	7: 26,159,236 (GRCm39)		probably null	Het
Nrap	A	T	19: 56,308,655 (GRCm39)	I1477N	possibly damaging	Het
Pdgfa	A	G	5: 138,979,049 (GRCm39)	S52P	probably benign	Het
Pou1f1	G	T	16: 65,328,868 (GRCm39)	E196*	probably null	Het
Ppp2r5e	G	A	12: 75,640,045 (GRCm39)	R19W	probably damaging	Het
Ptn	T	A	6: 36,721,419 (GRCm39)	Q7L	probably benign	Het
Rbp3	G	T	14: 33,676,807 (GRCm39)	A252S	probably damaging	Het
Rcor2	G	T	19: 7,251,426 (GRCm39)	V313L	probably damaging	Het
Rtp3	A	T	9: 110,815,195 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,787,323 (GRCm39)	T1017A	probably damaging	Het
Scgb2b11	T	C	7: 31,908,776 (GRCm39)	N108S	probably benign	Het
Sgo2b	C	A	8: 64,396,171 (GRCm39)	L28F	probably damaging	Het
Shroom3	A	G	5: 93,112,432 (GRCm39)	E1850G	probably damaging	Het
Slc16a14	A	G	1: 84,890,612 (GRCm39)	L231P	probably benign	Het
Slfn5	A	G	11: 82,847,496 (GRCm39)	E127G	possibly damaging	Het
Snx16	C	T	3: 10,502,892 (GRCm39)	M118I	probably damaging	Het
Snx21	T	C	2: 164,633,741 (GRCm39)	F176L	probably damaging	Het
Tap2	A	G	17: 34,432,990 (GRCm39)	N424S	probably benign	Het
Tcf7l1	T	C	6: 72,613,449 (GRCm39)		probably benign	Het
Trappc8	C	T	18: 20,951,247 (GRCm39)	V1400I	probably benign	Het
Trim58	T	C	11: 58,542,494 (GRCm39)	Y485H	possibly damaging	Het
U2af1l4	C	T	7: 30,263,638 (GRCm39)	T65I	probably benign	Het
Ufl1	G	T	4: 25,251,294 (GRCm39)		probably benign	Het
Usp8	A	G	2: 126,593,031 (GRCm39)	N762S	probably damaging	Het
Virma	A	T	4: 11,539,926 (GRCm39)	D1465V	probably benign	Het
Vmn1r48	A	T	6: 90,013,016 (GRCm39)	S270T	probably benign	Het
Vrk2	T	A	11: 26,541,697 (GRCm39)	Y9F	possibly damaging	Het
Wwp1	A	G	4: 19,631,057 (GRCm39)	F659L	probably damaging	Het
Zranb1	CTGATGATGATG	CTGATGATGATGATG	7: 132,584,556 (GRCm39)		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
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'- CCGAGTGTGGCTTACAGTTC -3'
(R):5'- CATCTGGCCTCCAATCACACTG -3'

Sequencing Primer
(F):5'- GTTCGCTCGCCTAGACAATTTGAAG -3'
(R):5'- TCACACTGAGGCTCTGAATG -3'

Posted On

2016-07-06