Mutagenetix > Incidental Mutation

Incidental Mutation 'R0662:Zbtb24'

61908

Institutional Source

Beutler Lab

Gene Symbol

Zbtb24

Ensembl Gene

ENSMUSG00000019826

Gene Name

zinc finger and BTB domain containing 24

Synonyms

ZNF450

MMRRC Submission

038847-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0662 (G1)

Quality Score

147

Status

Not validated

Chromosome

Chromosomal Location

41326379-41341570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41338275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 429 (G429D)

Ref Sequence

ENSEMBL: ENSMUSP00000079592 (fasta)

Gene Model

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

AlphaFold

Q80X44

Predicted Effect

probably damaging
Transcript: ENSMUST00000080771
AA Change: G429D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079592
Gene: ENSMUSG00000019826
AA Change: G429D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215881

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.6%
20x: 91.5%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,898,338 (GRCm39)	S241P	probably benign	Het
Ankrd53	G	T	6: 83,740,625 (GRCm39)	V83L	probably damaging	Het
Armcx2	G	A	X: 133,706,385 (GRCm39)	T416I	possibly damaging	Het
C4b	G	A	17: 34,949,862 (GRCm39)	R1441C	probably damaging	Het
Cacng3	T	C	7: 122,367,582 (GRCm39)	I154T	probably damaging	Het
Cand2	A	G	6: 115,764,171 (GRCm39)	D315G	probably benign	Het
Celsr2	A	T	3: 108,305,836 (GRCm39)	S2089R	probably damaging	Het
Chd9	A	C	8: 91,704,304 (GRCm39)	K247Q	probably damaging	Het
Chi3l1	A	C	1: 134,116,311 (GRCm39)	S263R	probably damaging	Het
Clec12b	A	C	6: 129,353,200 (GRCm39)	C262W	probably damaging	Het
Cpsf7	T	C	19: 10,503,372 (GRCm39)	M1T	probably null	Het
Cul3	T	C	1: 80,249,282 (GRCm39)	D597G	probably damaging	Het
Dcaf11	T	C	14: 55,802,964 (GRCm39)	V251A	possibly damaging	Het
Dennd2b	G	T	7: 109,156,633 (GRCm39)	P39Q	probably damaging	Het
Eno2	A	T	6: 124,740,774 (GRCm39)	F218I	probably damaging	Het
Frmd6	A	T	12: 70,946,218 (GRCm39)	R549*	probably null	Het
Fyb2	G	A	4: 104,852,895 (GRCm39)	S461N	possibly damaging	Het
Gm5709	A	T	3: 59,514,164 (GRCm39)		noncoding transcript	Het
Hormad1	T	C	3: 95,482,910 (GRCm39)	I132T	probably benign	Het
Itga7	G	T	10: 128,789,400 (GRCm39)	R981L	probably damaging	Het
Itgbl1	T	A	14: 124,065,306 (GRCm39)	N153K	probably damaging	Het
Itih1	T	C	14: 30,655,317 (GRCm39)	E626G	possibly damaging	Het
Kat6b	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	14: 21,712,417 (GRCm39)		probably benign	Het
Kcna2	A	T	3: 107,012,717 (GRCm39)	T433S	probably benign	Het
Map4k5	A	G	12: 69,859,927 (GRCm39)	V673A	probably damaging	Het
Mmp27	T	A	9: 7,577,651 (GRCm39)	V281E	probably benign	Het
Nr2c1	A	T	10: 94,026,600 (GRCm39)	I492F	probably damaging	Het
Or14c39	A	G	7: 86,343,838 (GRCm39)	Y58C	possibly damaging	Het
Or2ag19	A	T	7: 106,443,856 (GRCm39)	I13F	probably benign	Het
Or2r3	C	T	6: 42,448,708 (GRCm39)	V135M	possibly damaging	Het
Or2y3	A	G	17: 38,393,824 (GRCm39)	I15T	probably benign	Het
Or7d10	G	C	9: 19,831,796 (GRCm39)	C97S	probably damaging	Het
Or7e170	T	C	9: 19,795,248 (GRCm39)	M118V	probably benign	Het
Or8b47	T	A	9: 38,435,322 (GRCm39)	M98K	probably damaging	Het
Pank3	T	C	11: 35,669,477 (GRCm39)	M237T	probably damaging	Het
Plekhh1	A	G	12: 79,125,767 (GRCm39)	T1268A	probably benign	Het
Ptchd4	A	G	17: 42,813,467 (GRCm39)	Y456C	probably damaging	Het
Rhcg	C	T	7: 79,249,477 (GRCm39)	V310M	probably damaging	Het
Ryr1	A	T	7: 28,799,614 (GRCm39)	D906E	probably damaging	Het
Sez6l	A	T	5: 112,621,288 (GRCm39)	L262Q	probably damaging	Het
Shprh	G	A	10: 11,062,591 (GRCm39)	V1233I	probably damaging	Het
Slc3a1	A	G	17: 85,344,635 (GRCm39)	E267G	possibly damaging	Het
Slc5a5	T	A	8: 71,336,519 (GRCm39)	T616S	probably benign	Het
Syne3	T	G	12: 104,927,769 (GRCm39)	E318A	probably benign	Het
Tecpr2	A	G	12: 110,862,662 (GRCm39)	T25A	probably benign	Het
Ubxn1	T	A	19: 8,852,561 (GRCm39)		probably null	Het
Unc5b	C	A	10: 60,608,362 (GRCm39)	R616L	possibly damaging	Het
Ush2a	A	G	1: 188,083,290 (GRCm39)	T278A	probably benign	Het
Utp14b	A	G	1: 78,642,716 (GRCm39)	T205A	probably damaging	Het
Vmn1r219	T	C	13: 23,347,623 (GRCm39)	S271P	possibly damaging	Het
Vmn2r76	C	T	7: 85,879,578 (GRCm39)	V241M	probably benign	Het
Zdhhc2	T	C	8: 40,900,139 (GRCm39)	S68P	probably damaging	Het
Zfp719	G	A	7: 43,233,678 (GRCm39)	M32I	possibly damaging	Het
Zfp975	T	C	7: 42,311,950 (GRCm39)	N221S	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
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'- TTCTGTTTCCCACAGGAGCTGC -3'
(R):5'- CTCCAGAGAATGCCAGGGTTCAAG -3'

Sequencing Primer
(F):5'- TCCCTCAGCTCTCATGGAAGG -3'
(R):5'- tggctttcacctataatcccag -3'

Posted On

2013-07-30