Mutagenetix > Incidental Mutation

Incidental Mutation 'R5280:Zbtb32'

404161

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

042840-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5280 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30289106-30298334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30289629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 11 (E11V)

Ref Sequence

ENSEMBL: ENSMUSP00000103785 (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 damaging
Transcript: ENSMUST00000108150
AA Change: E11V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103785
Gene: ENSMUSG00000006310
AA Change: E11V

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: E375V

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

SMART Domains

Protein: ENSMUSP00000103786
Gene: ENSMUSG00000006310
AA Change: E375V

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

probably benign
Transcript: ENSMUST00000131002

SMART Domains

Protein: ENSMUSP00000118486
Gene: ENSMUSG00000006307

Domain	Start	End	E-Value	Type
low complexity region	7	20	N/A	INTRINSIC
low complexity region	30	69	N/A	INTRINSIC
low complexity region	202	214	N/A	INTRINSIC
Pfam:zf-CXXC	255	302	5.2e-15	PFAM
low complexity region	331	353	N/A	INTRINSIC
low complexity region	395	407	N/A	INTRINSIC
PHD	501	548	1.25e-5	SMART
PHD	549	599	5.4e-10	SMART
PHD	635	692	1.27e-6	SMART
low complexity region	707	719	N/A	INTRINSIC
PHD	938	984	3.82e-1	SMART
FYRN	1037	1080	3.25e-19	SMART
low complexity region	1173	1191	N/A	INTRINSIC
low complexity region	1204	1234	N/A	INTRINSIC
low complexity region	1253	1270	N/A	INTRINSIC
low complexity region	1283	1295	N/A	INTRINSIC
low complexity region	1305	1318	N/A	INTRINSIC
low complexity region	1340	1353	N/A	INTRINSIC
low complexity region	1379	1397	N/A	INTRINSIC
low complexity region	1419	1430	N/A	INTRINSIC
low complexity region	1507	1527	N/A	INTRINSIC
low complexity region	1531	1562	N/A	INTRINSIC
low complexity region	1684	1699	N/A	INTRINSIC
FYRC	1712	1797	4.83e-36	SMART
SET	1874	1996	1.67e-42	SMART
PostSET	1998	2014	4.65e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185080

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	C	T	17: 43,737,225 (GRCm39)	T218I	probably damaging	Het
Adgrv1	C	A	13: 81,545,584 (GRCm39)	S5567I	possibly damaging	Het
Alpk1	T	C	3: 127,474,813 (GRCm39)	T397A	probably benign	Het
Atp9a	T	A	2: 168,481,908 (GRCm39)	Y880F	possibly damaging	Het
Celsr1	T	C	15: 85,814,747 (GRCm39)	T1905A	probably benign	Het
Chd8	G	A	14: 52,442,582 (GRCm39)	A656V	possibly damaging	Het
Dffa	A	G	4: 149,202,391 (GRCm39)	N265S	probably benign	Het
Frrs1	A	G	3: 116,674,545 (GRCm39)	D109G	probably benign	Het
Gm20821	A	T	Y: 9,783,963 (GRCm39)	K195M	probably damaging	Het
Ifi207	A	T	1: 173,557,870 (GRCm39)	N289K	unknown	Het
Kank1	T	C	19: 25,388,669 (GRCm39)	F781L	probably benign	Het
Lrba	A	T	3: 86,232,329 (GRCm39)	M759L	possibly damaging	Het
Lrp8	A	G	4: 107,711,518 (GRCm39)	Y307C	probably damaging	Het
Neb	T	C	2: 52,037,168 (GRCm39)	H6847R	probably damaging	Het
Or2ag19	G	A	7: 106,443,902 (GRCm39)	C28Y	probably benign	Het
Or52ab4	T	C	7: 102,987,708 (GRCm39)	V149A	probably benign	Het
Pcdha5	C	A	18: 37,094,755 (GRCm39)	Y421*	probably null	Het
Pclo	T	A	5: 14,590,731 (GRCm39)	D1010E	unknown	Het
Pld2	A	T	11: 70,443,585 (GRCm39)	D449V	probably damaging	Het
Ppfia1	C	A	7: 144,038,832 (GRCm39)	M1032I	possibly damaging	Het
Prickle2	C	A	6: 92,353,191 (GRCm39)	L758F	probably damaging	Het
Sarm1	A	G	11: 78,374,302 (GRCm39)	V564A	probably damaging	Het
Taf1b	C	A	12: 24,599,437 (GRCm39)	F398L	probably benign	Het
Tll2	A	G	19: 41,105,696 (GRCm39)	I361T	possibly damaging	Het
Tmem260	T	C	14: 48,742,716 (GRCm39)	V517A	probably benign	Het
Usp24	A	G	4: 106,198,411 (GRCm39)	K106E	probably benign	Het
Vcan	C	A	13: 89,838,405 (GRCm39)	V2380F	probably benign	Het
Vmn2r65	A	G	7: 84,595,542 (GRCm39)	S381P	probably damaging	Het
Vmn2r73	T	C	7: 85,507,155 (GRCm39)	D719G	probably damaging	Het
Wdr5b	T	C	16: 35,862,202 (GRCm39)	V107A	probably benign	Het
Wdr7	G	T	18: 64,120,383 (GRCm39)	V1475F	probably benign	Het
Ythdc2	A	G	18: 44,993,688 (GRCm39)	D911G	probably damaging	Het
Zfp563	T	G	17: 33,323,812 (GRCm39)	Y136D	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
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
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'- TGTCAAGCCAGAGAAGCTACC -3'
(R):5'- ACCGAGTCCACACAGGTATG -3'

Sequencing Primer
(F):5'- TCGGCCTCGAGGAAGAG -3'
(R):5'- AGTCCACACAGGTATGGGCATC -3'

Posted On

2016-07-22