Mutagenetix > Incidental Mutation

Incidental Mutation 'R0927:Zbtb24'

80527

Institutional Source

Beutler Lab

Gene Symbol

Zbtb24

Ensembl Gene

ENSMUSG00000019826

Gene Name

zinc finger and BTB domain containing 24

Synonyms

ZNF450

MMRRC Submission

039074-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0927 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41326379-41341570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41327432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 106 (T106I)

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: T106I

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000079592
Gene: ENSMUSG00000019826
AA Change: T106I

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: T106I

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215881

Predicted Effect

probably benign
Transcript: ENSMUST00000216656
AA Change: T106I

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.0%
20x: 93.7%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	C	5: 24,607,317 (GRCm39)	L363P	probably damaging	Het
Adam12	T	A	7: 133,599,959 (GRCm39)	H85L	probably damaging	Het
Adam34	A	T	8: 44,104,621 (GRCm39)	H341Q	probably damaging	Het
Adam34l	A	T	8: 44,078,160 (GRCm39)	M688K	probably benign	Het
Adam7	A	G	14: 68,754,133 (GRCm39)	L322P	probably damaging	Het
Adcy5	T	A	16: 34,976,613 (GRCm39)	S49T	probably benign	Het
Arfgap2	T	C	2: 91,104,150 (GRCm39)	S374P	probably benign	Het
Arpp19	G	A	9: 74,944,967 (GRCm39)		probably benign	Het
Baz1a	T	C	12: 54,941,773 (GRCm39)	K1478E	probably damaging	Het
Cdc27	G	T	11: 104,396,467 (GRCm39)	A812E	possibly damaging	Het
Chtf8	G	A	8: 107,612,150 (GRCm39)	T263I	probably damaging	Het
Clcn6	T	C	4: 148,113,849 (GRCm39)	N70D	probably benign	Het
Cntnap5c	A	T	17: 58,349,553 (GRCm39)	T289S	possibly damaging	Het
Dzip3	T	C	16: 48,795,840 (GRCm39)	N177S	probably damaging	Het
Edar	G	T	10: 58,465,313 (GRCm39)		probably null	Het
Enam	T	A	5: 88,641,919 (GRCm39)	N244K	possibly damaging	Het
Fbxw10	A	G	11: 62,767,770 (GRCm39)	K874E	probably damaging	Het
Glra3	A	G	8: 56,578,239 (GRCm39)	E432G	possibly damaging	Het
Grin3b	G	A	10: 79,807,062 (GRCm39)	R110Q	probably benign	Het
Herc3	T	A	6: 58,845,748 (GRCm39)	V423D	possibly damaging	Het
Ifit2	A	T	19: 34,550,984 (GRCm39)	T175S	probably benign	Het
Kcnj8	T	G	6: 142,511,627 (GRCm39)	I327L	possibly damaging	Het
Kcns2	A	T	15: 34,839,242 (GRCm39)	I202F	probably benign	Het
Kif12	T	C	4: 63,087,010 (GRCm39)	R305G	possibly damaging	Het
Limch1	A	G	5: 67,154,576 (GRCm39)	D362G	probably damaging	Het
Lrba	T	C	3: 86,687,540 (GRCm39)	I2815T	probably damaging	Het
Lrrtm1	G	T	6: 77,221,843 (GRCm39)	M433I	probably damaging	Het
Myh7b	A	G	2: 155,462,040 (GRCm39)	D312G	probably damaging	Het
Nrxn1	A	T	17: 90,344,758 (GRCm39)	I382N	probably damaging	Het
Nudt6	C	T	3: 37,459,502 (GRCm39)	R161H	probably benign	Het
Or10w1	T	A	19: 13,631,816 (GRCm39)	W8R	probably damaging	Het
Or11g2	A	C	14: 50,856,044 (GRCm39)	M122L	possibly damaging	Het
Or4m1	A	T	14: 50,558,186 (GRCm39)	Y35*	probably null	Het
Or7e166	C	T	9: 19,624,945 (GRCm39)	A274V	probably benign	Het
Pmf1	A	T	3: 88,303,369 (GRCm39)	V64D	probably damaging	Het
Pomgnt1	T	A	4: 116,009,048 (GRCm39)	V29D	probably damaging	Het
Pramel22	T	A	4: 143,380,790 (GRCm39)	H411L	possibly damaging	Het
Pramel26	A	T	4: 143,539,378 (GRCm39)	D38E	probably benign	Het
Prex1	C	T	2: 166,428,457 (GRCm39)	A925T	probably benign	Het
Pus3	A	G	9: 35,476,327 (GRCm39)	Y72C	probably damaging	Het
Rnf20	T	C	4: 49,642,176 (GRCm39)	S247P	probably damaging	Het
Rnf213	T	A	11: 119,305,396 (GRCm39)	D542E	probably benign	Het
Sidt1	T	C	16: 44,063,895 (GRCm39)	D786G	probably benign	Het
Sirt6	A	T	10: 81,458,475 (GRCm39)	D219E	probably damaging	Het
Slc36a2	A	T	11: 55,072,411 (GRCm39)	I67N	probably damaging	Het
Slc47a1	A	G	11: 61,264,248 (GRCm39)	F57S	probably damaging	Het
Spg11	T	A	2: 121,924,968 (GRCm39)	T756S	probably damaging	Het
Sptbn1	C	A	11: 30,071,591 (GRCm39)	R1447L	probably damaging	Het
Tcf7l2	A	G	19: 55,907,387 (GRCm39)	M340V	probably damaging	Het
Thap1	T	C	8: 26,652,733 (GRCm39)	V157A	probably benign	Het
Ubash3b	G	A	9: 40,934,853 (GRCm39)	Q354*	probably null	Het
Ubtd1	G	A	19: 42,020,460 (GRCm39)	W68*	probably null	Het
Wdr64	G	T	1: 175,620,647 (GRCm39)	R793L	probably damaging	Het
Zbtb26	T	C	2: 37,326,337 (GRCm39)	N233S	possibly damaging	Het
Zcchc24	A	T	14: 25,757,585 (GRCm39)	N99K	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
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'- GGCAGCTTATGGTACACTCAGACAC -3'
(R):5'- CCGTTTCCGTTTCAGAGGATCGTTC -3'

Sequencing Primer
(F):5'- GTGCATTTCCGAGCCCATAAAG -3'
(R):5'- CTTCTTATTGGAAATAACCACCACTG -3'

Posted On

2013-11-07