Mutagenetix > Incidental Mutation

Incidental Mutation 'R3883:Zbtb32'

308816

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

040796-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3883 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30289106-30298334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30290569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 242 (I242T)

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

probably benign
Transcript: ENSMUST00000108151
AA Change: I242T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103786
Gene: ENSMUSG00000006310
AA Change: I242T

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

0.1956

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (45/46)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	C	T	8: 46,980,228 (GRCm39)	S423L	probably benign	Het
Ankmy1	T	G	1: 92,813,874 (GRCm39)	E435A	probably damaging	Het
Ano5	T	A	7: 51,216,052 (GRCm39)	M343K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
C3	T	C	17: 57,524,173 (GRCm39)		probably null	Het
Cdk17	T	C	10: 93,047,939 (GRCm39)		probably null	Het
Cntn2	A	G	1: 132,456,677 (GRCm39)	V123A	probably damaging	Het
Cracd	T	A	5: 77,004,421 (GRCm39)	W261R	unknown	Het
Dchs1	A	G	7: 105,411,770 (GRCm39)	Y1449H	probably damaging	Het
Ddx42	T	A	11: 106,138,518 (GRCm39)	N772K	probably benign	Het
Dnah11	T	C	12: 117,942,188 (GRCm39)		probably benign	Het
Edn1	T	A	13: 42,455,382 (GRCm39)	F4L	probably benign	Het
Epb41l3	C	T	17: 69,581,111 (GRCm39)	R552*	probably null	Het
Epc1	T	C	18: 6,452,258 (GRCm39)	D267G	possibly damaging	Het
Fbxo22	A	T	9: 55,130,546 (GRCm39)	T169S	probably benign	Het
Fmnl1	A	G	11: 103,072,940 (GRCm39)	N144D	probably damaging	Het
Folh1	A	G	7: 86,424,864 (GRCm39)	L35P	possibly damaging	Het
Gm10220	A	C	5: 26,321,908 (GRCm39)	S255A	possibly damaging	Het
Gm15446	G	T	5: 110,088,313 (GRCm39)	V9L	probably damaging	Het
Hipk2	A	G	6: 38,676,200 (GRCm39)	L1011P	probably damaging	Het
Kif4-ps	G	T	12: 101,112,473 (GRCm39)	V201L	probably damaging	Het
Klk1b16	T	C	7: 43,788,887 (GRCm39)	V40A	possibly damaging	Het
Lgsn	C	A	1: 31,215,540 (GRCm39)	D3E	probably benign	Het
Mavs	T	C	2: 131,087,218 (GRCm39)	S239P	probably benign	Het
Mrtfb	T	A	16: 13,219,322 (GRCm39)	V667D	probably damaging	Het
Mtrf1	A	G	14: 79,656,707 (GRCm39)	Y403C	probably damaging	Het
Mycbp2	A	C	14: 103,532,686 (GRCm39)	L390V	probably damaging	Het
Neto2	A	G	8: 86,389,894 (GRCm39)	S190P	probably damaging	Het
Ngly1	A	G	14: 16,270,574 (GRCm38)	I195V	probably damaging	Het
Or10d4c	A	G	9: 39,558,420 (GRCm39)	I133V	probably benign	Het
Or13p5	T	C	4: 118,591,882 (GRCm39)	I52T	probably benign	Het
Pde4dip	T	C	3: 97,620,504 (GRCm39)	K1632E	probably damaging	Het
Pigk	T	C	3: 152,419,832 (GRCm39)	S21P	probably benign	Het
Rabggtb	A	G	3: 153,616,417 (GRCm39)	F82L	probably damaging	Het
Reep6	G	A	10: 80,171,369 (GRCm39)	R415Q	probably benign	Het
Serpinb13	T	C	1: 106,926,302 (GRCm39)	V159A	probably benign	Het
Slc5a8	T	A	10: 88,738,325 (GRCm39)	M196K	possibly damaging	Het
Sprr1a	G	A	3: 92,391,827 (GRCm39)	P58L	probably damaging	Het
Taf1a	A	T	1: 183,172,288 (GRCm39)	T10S	possibly damaging	Het
Tap1	T	A	17: 34,412,232 (GRCm39)	V479E	probably damaging	Het
Trpm4	C	T	7: 44,971,422 (GRCm39)		probably null	Het
Ush2a	T	C	1: 187,995,579 (GRCm39)	Y117H	probably benign	Het
Vmn2r58	A	T	7: 41,513,914 (GRCm39)	L243*	probably null	Het
Zbtb7a	T	C	10: 80,983,859 (GRCm39)	C434R	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
R1173:Zbtb32	UTSW	7	30,290,692 (GRCm39)	missense	possibly damaging	0.86
R2129:Zbtb32	UTSW	7	30,290,918 (GRCm39)	missense	possibly damaging	0.53
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

PCR Primer
(F):5'- ACTGACTCTGGCCTGTCTTG -3'
(R):5'- GCAACTAGGATGATGAGCTCAG -3'

Sequencing Primer
(F):5'- GTCTCTAACTCAGGAAATGTACACTG -3'
(R):5'- GCTCAGAGGAGGTCATGC -3'

Posted On

2015-04-17