Mutagenetix > Incidental Mutation

Incidental Mutation 'R8100:Zbtb32'

630451

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

067532-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8100 (G1)

Quality Score

187.468

Status

Not validated

Chromosome

Chromosomal Location

30289106-30298334 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

CTTG to CTTGTTG at 30290946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103789 (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

SMART Domains

Protein: ENSMUSP00000103786
Gene: ENSMUSG00000006310

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	G	A	14: 56,009,722 (GRCm39)	Q777*	probably null	Het
Art1	T	C	7: 101,756,405 (GRCm39)	S199P	probably damaging	Het
Cadps2	A	T	6: 23,838,808 (GRCm39)	M110K	probably damaging	Het
Cdk13	C	T	13: 17,978,101 (GRCm39)	R379Q	unknown	Het
Cdk7	T	C	13: 100,842,925 (GRCm39)	I272V	probably benign	Het
Cep350	T	C	1: 155,829,148 (GRCm39)	D192G	probably damaging	Het
Chrna6	C	T	8: 27,903,844 (GRCm39)		probably benign	Het
Ciart	G	A	3: 95,788,656 (GRCm39)	P61L	probably damaging	Het
Ckmt1	T	A	2: 121,191,258 (GRCm39)	D223E	probably benign	Het
Col6a5	C	T	9: 105,755,839 (GRCm39)	R2195H	probably damaging	Het
D430041D05Rik	C	T	2: 104,087,287 (GRCm39)	R563H	probably benign	Het
Defa29	A	T	8: 21,816,990 (GRCm39)	M1K	probably null	Het
Dnah11	A	G	12: 117,930,368 (GRCm39)	S3326P	probably damaging	Het
Dsg3	A	G	18: 20,662,028 (GRCm39)	D431G	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Fbln1	T	A	15: 85,169,357 (GRCm39)	F699I	probably damaging	Het
Fndc1	A	G	17: 7,990,685 (GRCm39)	S1004P	unknown	Het
Gpr15	T	A	16: 58,538,076 (GRCm39)	T338S	probably benign	Het
Grin2d	T	C	7: 45,483,171 (GRCm39)	Y1002C	unknown	Het
Hk2	C	T	6: 82,707,859 (GRCm39)	M703I	probably benign	Het
Ifi213	A	C	1: 173,422,748 (GRCm39)	L39R	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lama2	C	A	10: 26,917,113 (GRCm39)	A2271S	probably benign	Het
Lmo7	A	T	14: 102,137,899 (GRCm39)	Q867L	probably benign	Het
Loxhd1	T	A	18: 77,492,512 (GRCm39)	S1427T	possibly damaging	Het
Lzts1	A	G	8: 69,593,397 (GRCm39)	V70A	probably damaging	Het
Mocs3	A	G	2: 168,073,257 (GRCm39)	T235A	possibly damaging	Het
Myo15a	G	A	11: 60,408,016 (GRCm39)	R3168H	probably damaging	Het
Ndc1	A	G	4: 107,240,802 (GRCm39)	D260G	possibly damaging	Het
Nfam1	T	C	15: 82,900,730 (GRCm39)	D44G	probably damaging	Het
Or4a47	G	A	2: 89,666,029 (GRCm39)	Q87*	probably null	Het
Osbpl10	G	A	9: 114,996,322 (GRCm39)	R128H	probably benign	Het
Otx1	C	A	11: 21,949,392 (GRCm39)	V29L	probably benign	Het
Pogk	A	T	1: 166,229,511 (GRCm39)	D113E	possibly damaging	Het
Ptgs2	T	C	1: 149,978,472 (GRCm39)	F195L	probably damaging	Het
Ptpn21	T	A	12: 98,648,881 (GRCm39)	E925V	possibly damaging	Het
Ranbp2	T	C	10: 58,326,470 (GRCm39)	F2714L	possibly damaging	Het
Rbm20	T	G	19: 53,839,744 (GRCm39)	I911S	possibly damaging	Het
Rwdd2b	A	G	16: 87,233,509 (GRCm39)	V197A	possibly damaging	Het
Sel1l2	C	G	2: 140,117,329 (GRCm39)	A181P	probably damaging	Het
Sf1	A	G	19: 6,422,368 (GRCm39)	E234G	possibly damaging	Het
Skint2	A	C	4: 112,483,197 (GRCm39)	T201P	probably damaging	Het
Sra1	C	T	18: 36,809,948 (GRCm39)	R199H	probably damaging	Het
Svs5	A	G	2: 164,079,712 (GRCm39)	M65T	probably benign	Het
Tgif1	C	A	17: 71,153,544 (GRCm39)		probably benign	Het
Tmem184c	A	G	8: 78,331,411 (GRCm39)	W113R	possibly damaging	Het
Tmem30a	T	C	9: 79,681,432 (GRCm39)	R282G	probably benign	Het
Top1	T	A	2: 160,540,155 (GRCm39)	Y244*	probably null	Het
Trank1	A	G	9: 111,221,861 (GRCm39)	Y2866C	probably damaging	Het
Trim7	A	C	11: 48,740,346 (GRCm39)	I148L	probably damaging	Het
Triml1	T	A	8: 43,591,717 (GRCm39)	M214L	probably benign	Het
Usp30	T	G	5: 114,249,245 (GRCm39)	V183G	probably damaging	Het
Vmn1r175	G	A	7: 23,508,012 (GRCm39)	S205F	probably damaging	Het
Zfp108	T	A	7: 23,960,602 (GRCm39)	C398S	probably damaging	Het
Zfp592	T	G	7: 80,673,940 (GRCm39)	D301E	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
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
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'- TCTCGATACCTCGCATGACC -3'
(R):5'- GGGCTCTGGTTGAAGACATAAGC -3'

Sequencing Primer
(F):5'- GCATGACCTCCTCTGAGC -3'
(R):5'- TGGTTGAAGACATAAGCCCTTCC -3'

Posted On

2020-06-30