Mutagenetix > Incidental Mutation

Incidental Mutation 'R5428:Zbtb24'

427021

Institutional Source

Beutler Lab

Gene Symbol

Zbtb24

Ensembl Gene

ENSMUSG00000019826

Gene Name

zinc finger and BTB domain containing 24

Synonyms

ZNF450

MMRRC Submission

042994-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5428 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41326379-41341570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41340784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 605 (S605P)

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: S627P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000079592
Gene: ENSMUSG00000019826
AA Change: S627P

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: S605P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215881

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (62/63)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	C	18: 6,635,918 (GRCm39)	V324L	probably benign	Het
Abl2	T	C	1: 156,469,681 (GRCm39)	C982R	probably damaging	Het
Adgrl4	G	A	3: 151,248,323 (GRCm39)	C665Y	probably damaging	Het
Adra1d	A	G	2: 131,403,323 (GRCm39)	S256P	probably damaging	Het
Aipl1	T	A	11: 71,921,313 (GRCm39)	Y194F	probably benign	Het
Arfgef1	C	A	1: 10,231,060 (GRCm39)	D1150Y	probably damaging	Het
Arl14epl	A	T	18: 47,059,387 (GRCm39)	M1L	possibly damaging	Het
Colgalt1	G	T	8: 72,075,420 (GRCm39)	R442L	probably damaging	Het
Ctnnd1	C	T	2: 84,447,133 (GRCm39)	V371M	probably damaging	Het
Dach1	A	G	14: 98,406,705 (GRCm39)	V14A	unknown	Het
Defa30	A	G	8: 21,625,419 (GRCm39)	D61G	probably benign	Het
Dnaja2	A	T	8: 86,266,804 (GRCm39)	C308S	probably benign	Het
Emc4	A	G	2: 112,197,700 (GRCm39)		probably benign	Het
Foxp1	A	G	6: 98,993,592 (GRCm39)	V104A	probably damaging	Het
Fry	T	G	5: 150,328,824 (GRCm39)	L1319R	possibly damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gja10	T	A	4: 32,601,169 (GRCm39)	H405L	probably benign	Het
Gm27047	A	G	6: 130,607,527 (GRCm39)		noncoding transcript	Het
Grm1	T	A	10: 10,595,307 (GRCm39)	T774S	probably damaging	Het
Gtse1	A	C	15: 85,746,340 (GRCm39)	D52A	probably benign	Het
Kctd17	T	A	15: 78,312,982 (GRCm39)	F42Y	probably damaging	Het
Kndc1	A	G	7: 139,488,878 (GRCm39)	K178E	probably damaging	Het
Lrrc74b	T	C	16: 17,376,125 (GRCm39)	E175G	probably damaging	Het
Macf1	A	G	4: 123,278,661 (GRCm39)	I5927T	probably damaging	Het
Maml2	A	G	9: 13,617,191 (GRCm39)	N935S	probably benign	Het
Man2a1	A	G	17: 65,019,295 (GRCm39)	I720V	probably benign	Het
Map3k5	C	T	10: 19,899,399 (GRCm39)	H219Y	possibly damaging	Het
Map4k5	T	C	12: 69,884,787 (GRCm39)	T314A	possibly damaging	Het
Mast3	A	G	8: 71,237,377 (GRCm39)	V615A	possibly damaging	Het
Mcmbp	C	T	7: 128,306,248 (GRCm39)	V457I	probably benign	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nacc1	T	C	8: 85,402,783 (GRCm39)	I337V	probably damaging	Het
Nipbl	T	C	15: 8,359,780 (GRCm39)	D1475G	probably benign	Het
Orc1	T	A	4: 108,457,137 (GRCm39)	D392E	probably benign	Het
Pappa2	T	C	1: 158,642,355 (GRCm39)	T1297A	possibly damaging	Het
Plag1	C	T	4: 3,905,538 (GRCm39)	V51I	possibly damaging	Het
Ppp1r12a	G	A	10: 108,089,208 (GRCm39)	E616K	possibly damaging	Het
Ptgs1	A	G	2: 36,135,280 (GRCm39)	M415V	probably benign	Het
Ralgapa2	C	T	2: 146,176,414 (GRCm39)	E1683K	probably damaging	Het
Rap2a	T	A	14: 120,716,406 (GRCm39)	F90I	probably benign	Het
Rcvrn	A	G	11: 67,590,875 (GRCm39)	E153G	possibly damaging	Het
Sharpin	C	A	15: 76,234,866 (GRCm39)		probably benign	Het
Skil	T	A	3: 31,151,647 (GRCm39)	D56E	probably benign	Het
Slc22a18	G	T	7: 143,033,082 (GRCm39)	G57W	probably damaging	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Synj1	T	C	16: 90,788,406 (GRCm39)	D154G	probably damaging	Het
Tbc1d24	A	T	17: 24,400,746 (GRCm39)	N156K	probably benign	Het
Tcea1	A	T	1: 4,950,568 (GRCm39)		probably benign	Het
Tmc3	T	C	7: 83,261,755 (GRCm39)	V611A	probably damaging	Het
Tnrc6c	A	G	11: 117,591,588 (GRCm39)	M1V	probably null	Het
Tomm5	A	T	4: 45,106,689 (GRCm39)		probably benign	Het
Ttc6	A	G	12: 57,736,620 (GRCm39)	K1207R	probably null	Het
Ttn	T	C	2: 76,591,448 (GRCm39)	T12747A	possibly damaging	Het
Ttn	A	T	2: 76,715,480 (GRCm39)		probably benign	Het
Utrn	T	C	10: 12,569,175 (GRCm39)	D1147G	probably benign	Het
Vmn1r53	T	C	6: 90,200,395 (GRCm39)	I310V	probably benign	Het
Washc4	A	C	10: 83,410,386 (GRCm39)	D658A	probably benign	Het
Wrap73	G	A	4: 154,229,731 (GRCm39)	R34Q	probably damaging	Het
Ylpm1	T	C	12: 85,077,003 (GRCm39)	F1243L	probably benign	Het
Zfy1	T	G	Y: 726,205 (GRCm39)	H520P	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
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
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'- AACTTCATGCCAGGTCCCAG -3'
(R):5'- ATCTGTAAGATGATGGCCCAAAAG -3'

Sequencing Primer
(F):5'- AGCCAGGGGGTCAGCATC -3'
(R):5'- ACTGTTGCTCCAGGGGAAG -3'

Posted On

2016-09-01