Mutagenetix > Incidental Mutation

Incidental Mutation 'R1173:Zbtb32'

99706

Institutional Source

Beutler Lab

Gene Symbol

Zbtb32

Ensembl Gene

ENSMUSG00000006310

Gene Name

zinc finger and BTB domain containing 32

Synonyms

PLZP, Rog, Tzfp, 4930524C15Rik

MMRRC Submission

039246-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30289106-30298334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30290692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 201 (E201V)

Ref Sequence

ENSEMBL: ENSMUSP00000103786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006470] [ENSMUST00000108150] [ENSMUST00000108151] [ENSMUST00000108154]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000006470

SMART Domains

Protein: ENSMUSP00000006470
Gene: ENSMUSG00000006307

Domain	Start	End	E-Value	Type
AT_hook	18	30	2.82e2	SMART
low complexity region	66	106	N/A	INTRINSIC
low complexity region	110	122	N/A	INTRINSIC
AT_hook	149	159	2.4e2	SMART
AT_hook	218	230	1.95e2	SMART
low complexity region	249	263	N/A	INTRINSIC
low complexity region	272	302	N/A	INTRINSIC
coiled coil region	353	413	N/A	INTRINSIC
AT_hook	476	488	5.47e-1	SMART
low complexity region	501	517	N/A	INTRINSIC
low complexity region	578	606	N/A	INTRINSIC
low complexity region	621	657	N/A	INTRINSIC
low complexity region	673	700	N/A	INTRINSIC
low complexity region	715	728	N/A	INTRINSIC
low complexity region	738	777	N/A	INTRINSIC
low complexity region	910	922	N/A	INTRINSIC
Pfam:zf-CXXC	963	1010	7.2e-15	PFAM
low complexity region	1039	1061	N/A	INTRINSIC
low complexity region	1103	1115	N/A	INTRINSIC
PHD	1209	1256	1.25e-5	SMART
PHD	1257	1307	5.4e-10	SMART
PHD	1343	1400	1.27e-6	SMART
low complexity region	1415	1427	N/A	INTRINSIC
PHD	1646	1692	3.82e-1	SMART
FYRN	1745	1788	3.25e-19	SMART
low complexity region	1881	1899	N/A	INTRINSIC
low complexity region	1912	1942	N/A	INTRINSIC
low complexity region	1961	1978	N/A	INTRINSIC
low complexity region	1991	2003	N/A	INTRINSIC
low complexity region	2013	2026	N/A	INTRINSIC
low complexity region	2048	2061	N/A	INTRINSIC
low complexity region	2087	2105	N/A	INTRINSIC
low complexity region	2127	2138	N/A	INTRINSIC
low complexity region	2215	2235	N/A	INTRINSIC
low complexity region	2239	2270	N/A	INTRINSIC
low complexity region	2396	2406	N/A	INTRINSIC
FYRC	2419	2504	4.83e-36	SMART
SET	2581	2703	1.67e-42	SMART
PostSET	2705	2721	4.65e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108150

SMART Domains

Protein: ENSMUSP00000103785
Gene: ENSMUSG00000006310

Domain	Start	End	E-Value	Type
ZnF_C2H2	14	36	1.67e-2	SMART
ZnF_C2H2	41	63	2.4e-3	SMART
low complexity region	81	101	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108151
AA Change: E201V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103786
Gene: ENSMUSG00000006310
AA Change: E201V

Domain	Start	End	E-Value	Type
BTB	29	117	1.67e-8	SMART
low complexity region	207	222	N/A	INTRINSIC
ZnF_C2H2	350	372	1.28e-3	SMART
ZnF_C2H2	378	400	1.67e-2	SMART
ZnF_C2H2	405	427	2.4e-3	SMART
low complexity region	445	465	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108154

SMART Domains

Protein: ENSMUSP00000103789
Gene: ENSMUSG00000006307

Domain	Start	End	E-Value	Type
AT_hook	18	30	2.82e2	SMART
low complexity region	66	106	N/A	INTRINSIC
low complexity region	110	122	N/A	INTRINSIC
AT_hook	149	159	2.4e2	SMART
AT_hook	218	230	1.95e2	SMART
low complexity region	249	263	N/A	INTRINSIC
low complexity region	272	302	N/A	INTRINSIC
coiled coil region	353	413	N/A	INTRINSIC
AT_hook	476	488	5.47e-1	SMART
low complexity region	501	517	N/A	INTRINSIC
low complexity region	578	606	N/A	INTRINSIC
low complexity region	621	657	N/A	INTRINSIC
low complexity region	673	700	N/A	INTRINSIC
low complexity region	715	728	N/A	INTRINSIC
low complexity region	738	777	N/A	INTRINSIC
low complexity region	910	922	N/A	INTRINSIC
Pfam:zf-CXXC	963	1010	1e-14	PFAM
low complexity region	1039	1061	N/A	INTRINSIC
low complexity region	1103	1115	N/A	INTRINSIC
PHD	1209	1256	1.25e-5	SMART
PHD	1257	1307	5.4e-10	SMART
PHD	1343	1400	1.27e-6	SMART
low complexity region	1415	1427	N/A	INTRINSIC
PHD	1646	1692	3.82e-1	SMART
FYRN	1745	1788	3.25e-19	SMART
low complexity region	1872	1890	N/A	INTRINSIC
low complexity region	1903	1933	N/A	INTRINSIC
low complexity region	1952	1969	N/A	INTRINSIC
low complexity region	1982	1994	N/A	INTRINSIC
low complexity region	2004	2017	N/A	INTRINSIC
low complexity region	2039	2052	N/A	INTRINSIC
low complexity region	2078	2096	N/A	INTRINSIC
low complexity region	2118	2129	N/A	INTRINSIC
low complexity region	2206	2226	N/A	INTRINSIC
low complexity region	2230	2261	N/A	INTRINSIC
low complexity region	2383	2398	N/A	INTRINSIC
FYRC	2411	2496	4.83e-36	SMART
SET	2573	2695	1.67e-42	SMART
PostSET	2697	2713	4.65e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185080

Meta Mutation Damage Score

0.0771

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.9%

Validation Efficiency

99% (72/73)

MGI Phenotype

PHENOTYPE: Homozygous null mice display increased T cell proliferation and increased cytokine secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,696,589 (GRCm39)		probably benign	Het
Adam30	G	A	3: 98,070,222 (GRCm39)	S685N	probably benign	Het
Adamts12	T	C	15: 11,071,843 (GRCm39)	V129A	probably benign	Het
Agxt2	T	C	15: 10,373,837 (GRCm39)	F81S	probably damaging	Het
Ahnak2	A	T	12: 112,749,409 (GRCm39)	I186N	probably damaging	Het
Amz1	A	T	5: 140,737,691 (GRCm39)		probably null	Het
Anapc5	G	A	5: 122,926,481 (GRCm39)	A619V	possibly damaging	Het
Aoc1l3	C	A	6: 48,967,173 (GRCm39)	P707H	probably damaging	Het
Bbox1	T	C	2: 110,095,956 (GRCm39)	D336G	probably damaging	Het
Bivm	A	G	1: 44,165,942 (GRCm39)	T131A	probably benign	Het
Bpi	A	T	2: 158,109,660 (GRCm39)	I203F	probably benign	Het
Cd151	A	C	7: 141,050,569 (GRCm39)	T241P	probably damaging	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Cdh23	G	A	10: 60,148,171 (GRCm39)		probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dclre1b	A	C	3: 103,711,192 (GRCm39)	S240A	probably benign	Het
Ddc	A	C	11: 11,796,634 (GRCm39)		probably null	Het
Dkk1	T	C	19: 30,524,650 (GRCm39)	R252G	probably damaging	Het
Dmrtc2	T	A	7: 24,573,738 (GRCm39)	M191K	possibly damaging	Het
Eml6	A	G	11: 29,699,824 (GRCm39)	S1771P	possibly damaging	Het
Emx1	T	C	6: 85,165,353 (GRCm39)		probably benign	Het
Fah	T	C	7: 84,250,344 (GRCm39)	M1V	probably null	Het
Fmo6	A	T	1: 162,753,710 (GRCm39)	M144K	probably damaging	Het
Frem1	A	G	4: 82,868,589 (GRCm39)	V1445A	probably benign	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gfm2	A	G	13: 97,301,708 (GRCm39)		probably null	Het
Ghrhr	T	A	6: 55,365,254 (GRCm39)	L416*	probably null	Het
Glipr1l2	C	A	10: 111,919,371 (GRCm39)	L31I	possibly damaging	Het
Gm19965	T	A	1: 116,748,550 (GRCm39)		probably benign	Het
Gpr149	A	G	3: 62,511,888 (GRCm39)	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,202,693 (GRCm39)	I131T	probably damaging	Het
Htra4	T	C	8: 25,520,635 (GRCm39)	D342G	possibly damaging	Het
Idh1	G	T	1: 65,200,319 (GRCm39)	N348K	probably benign	Het
Impdh2	T	C	9: 108,439,028 (GRCm39)	F99S	probably benign	Het
Kank4	T	C	4: 98,653,806 (GRCm39)	Y874C	probably damaging	Het
Kazn	A	T	4: 141,886,349 (GRCm39)		probably benign	Het
Kcnq3	T	A	15: 65,871,891 (GRCm39)	T593S	probably benign	Het
Lamc1	T	C	1: 153,122,977 (GRCm39)		probably benign	Het
Magi3	A	G	3: 103,968,946 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,751,617 (GRCm39)	V578A	probably benign	Het
Meox2	T	C	12: 37,159,151 (GRCm39)	C108R	possibly damaging	Het
Nlrp9c	C	A	7: 26,079,860 (GRCm39)	C722F	probably damaging	Het
Or2a5	T	C	6: 42,874,285 (GRCm39)	V300A	probably benign	Het
Pde10a	C	T	17: 9,139,378 (GRCm39)		probably benign	Het
Ppfia4	A	G	1: 134,260,021 (GRCm39)		probably benign	Het
Psg18	T	C	7: 18,088,742 (GRCm39)	M1V	probably null	Het
Qtrt1	A	G	9: 21,323,782 (GRCm39)	T136A	probably benign	Het
Retsat	T	C	6: 72,580,634 (GRCm39)		probably benign	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Sfswap	G	A	5: 129,584,207 (GRCm39)		probably null	Het
Slc16a7	A	T	10: 125,067,241 (GRCm39)	L133I	possibly damaging	Het
Slc30a3	A	T	5: 31,244,154 (GRCm39)	M376K	probably damaging	Het
Spmip4	T	A	6: 50,566,121 (GRCm39)	K118M	probably damaging	Het
Srbd1	C	T	17: 86,405,940 (GRCm39)	C620Y	probably null	Het
Trip10	T	A	17: 57,560,363 (GRCm39)	L100Q	probably damaging	Het
Tyrp1	C	T	4: 80,763,105 (GRCm39)	Q331*	probably null	Het
Vangl2	G	T	1: 171,832,353 (GRCm39)	T501N	probably damaging	Het
Vdr	A	T	15: 97,767,214 (GRCm39)	Y185N	probably benign	Het
Vmn1r123	C	T	7: 20,896,257 (GRCm39)	P50S	probably damaging	Het
Vmn1r158	T	A	7: 22,489,870 (GRCm39)	H113L	probably benign	Het
Vmn2r12	A	T	5: 109,240,720 (GRCm39)	I131N	probably benign	Het
Vmn2r72	T	A	7: 85,401,152 (GRCm39)	E89V	probably damaging	Het
Xrcc6	A	G	15: 81,915,364 (GRCm39)	D94G	probably damaging	Het
Zfp185	A	T	X: 72,042,929 (GRCm39)	E138D	possibly damaging	Het
Zmynd11	T	A	13: 9,739,585 (GRCm39)	H437L	probably damaging	Het

Other mutations in Zbtb32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01954:Zbtb32	APN	7	30,289,353 (GRCm39)	splice site	probably null
R2129:Zbtb32	UTSW	7	30,290,918 (GRCm39)	missense	possibly damaging	0.53
R3883:Zbtb32	UTSW	7	30,290,569 (GRCm39)	missense	probably benign	0.33
R4934:Zbtb32	UTSW	7	30,290,678 (GRCm39)	missense	possibly damaging	0.53
R5070:Zbtb32	UTSW	7	30,290,891 (GRCm39)	missense	probably benign	0.01
R5280:Zbtb32	UTSW	7	30,289,629 (GRCm39)	missense	probably damaging	1.00
R6091:Zbtb32	UTSW	7	30,291,254 (GRCm39)	missense	possibly damaging	0.48
R6401:Zbtb32	UTSW	7	30,291,244 (GRCm39)	missense	probably damaging	1.00
R7366:Zbtb32	UTSW	7	30,289,606 (GRCm39)	missense	probably damaging	1.00
R8100:Zbtb32	UTSW	7	30,290,946 (GRCm39)	unclassified	probably benign
R8356:Zbtb32	UTSW	7	30,289,381 (GRCm39)	missense	unknown
R8404:Zbtb32	UTSW	7	30,291,035 (GRCm39)	missense	possibly damaging	0.86
R8456:Zbtb32	UTSW	7	30,289,381 (GRCm39)	missense	unknown
R9188:Zbtb32	UTSW	7	30,291,320 (GRCm39)	unclassified	probably benign
X0022:Zbtb32	UTSW	7	30,289,355 (GRCm39)	makesense	probably null
Z1186:Zbtb32	UTSW	7	30,290,102 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2014-01-15