Mutagenetix > Incidental Mutations

Incidental Mutation 'R4864:Zfp382'

374749

Institutional Source

Beutler Lab

Gene Symbol

Zfp382

Ensembl Gene

ENSMUSG00000074220

Gene Name

zinc finger protein 382

Synonyms

5930415A09Rik

MMRRC Submission

042474-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R4864 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30121942-30134950 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30133460 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 179 (I179F)

Ref Sequence

ENSEMBL: ENSMUSP00000096196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098596] [ENSMUST00000153792]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098596
AA Change: I179F

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000096196
Gene: ENSMUSG00000074220
AA Change: I179F

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
KRAB	42	102	3.36e-39	SMART
ZnF_C2H2	325	347	1.84e-4	SMART
ZnF_C2H2	353	375	7.26e-3	SMART
ZnF_C2H2	381	403	2.71e-2	SMART
ZnF_C2H2	409	431	4.47e-3	SMART
ZnF_C2H2	437	459	2.12e-4	SMART
ZnF_C2H2	465	487	3.95e-4	SMART
ZnF_C2H2	493	515	1.12e-3	SMART
ZnF_C2H2	521	543	2.57e-3	SMART
ZnF_C2H2	549	571	3.63e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153792

SMART Domains

Protein: ENSMUSP00000123508
Gene: ENSMUSG00000074220

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156543

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (93/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a KRAB domain zinc finger transcription factor (KZNF). KZNFs play critical roles in the regulation of many cellular processes including differentiation, proliferation and apoptosis. The encoded protein inhibits activating protein 1 (AP-1) and nuclear factor kappa-B (NF-kB) signaling and may function as a tumor suppressor in multiple carcinomas. This gene is found in a cluster with other zinc finger protein genes on the long arm of chromosome 19, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 63,973,209	R190H	probably benign	Het
Acp6	T	C	3: 97,159,367		probably null	Het
Adora3	T	A	3: 105,907,815	Y148N	probably damaging	Het
Ahnak2	G	A	12: 112,773,606	S538L	probably damaging	Het
Aox3	T	G	1: 58,176,487	V1026G	probably damaging	Het
Ap3d1	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	10: 80,712,778		probably null	Het
Arhgef37	G	A	18: 61,494,925	A649V	probably benign	Het
Atp5a1	G	A	18: 77,781,315	R413H	possibly damaging	Het
Bace1	A	T	9: 45,854,811	I179F	probably damaging	Het
Brinp1	A	G	4: 68,798,886	F242L	probably damaging	Het
Brk1	T	C	6: 113,615,844	Y63H	possibly damaging	Het
Ccdc74a	A	G	16: 17,648,872	T148A	probably benign	Het
Cenpc1	T	A	5: 86,045,321	L236F	probably damaging	Het
Col13a1	C	T	10: 61,862,660	E541K	unknown	Het
Copg1	T	A	6: 87,889,696	C44S	probably damaging	Het
D130043K22Rik	A	G	13: 24,863,612	E380G	probably damaging	Het
Dchs1	T	C	7: 105,755,253	D2694G	probably damaging	Het
Dgkd	A	T	1: 87,916,838	N242I	possibly damaging	Het
Dnah2	C	T	11: 69,422,590	V4248I	probably damaging	Het
Dpy19l3	T	A	7: 35,712,182	K376*	probably null	Het
Eef1d	A	G	15: 75,903,406	S135P	possibly damaging	Het
Epc2	T	A	2: 49,537,165	S574T	probably benign	Het
Eps15	G	A	4: 109,366,530		probably benign	Het
Eps8	T	C	6: 137,478,969		probably benign	Het
Exoc5	A	T	14: 49,052,382	V13E	probably benign	Het
Fbn1	A	T	2: 125,372,397	C765S	possibly damaging	Het
Fbxo5	A	T	10: 5,802,392	C74S	probably benign	Het
Fbxw9	T	C	8: 85,065,901	S322P	probably damaging	Het
Fmo5	T	A	3: 97,645,879	I381N	probably damaging	Het
Fmo6	T	C	1: 162,924,395	D175G	probably benign	Het
Gm11127	T	A	17: 36,058,361		probably benign	Het
Gm340	G	T	19: 41,585,364	A853S	probably benign	Het
Gm7361	A	G	5: 26,262,010		probably null	Het
Gm9961	G	A	16: 11,903,035		probably benign	Het
Golga7b	T	A	19: 42,266,966		probably null	Het
Gorab	T	C	1: 163,386,398	E321G	probably benign	Het
Gpx1	T	A	9: 108,339,395	V28E	probably benign	Het
Hist2h3c1	T	C	3: 96,247,259	I125T	probably damaging	Het
Hk1	T	C	10: 62,342,539	S8G	probably benign	Het
Iqsec1	C	T	6: 90,664,056	R1026H	probably damaging	Het
Kdm4b	A	T	17: 56,353,091	Y86F	probably benign	Het
Kprp	C	T	3: 92,824,522	R407Q	unknown	Het
Lamb1	C	T	12: 31,321,006	T1400M	probably benign	Het
Lrriq3	T	A	3: 155,187,810	Y383N	possibly damaging	Het
Map3k21	T	C	8: 125,927,555	I371T	probably benign	Het
Mllt1	A	T	17: 56,905,819	F105I	probably damaging	Het
Nfatc2	A	G	2: 168,536,392	M451T	probably damaging	Het
Nfkbiz	A	C	16: 55,818,424	N224K	probably damaging	Het
Nlrp4d	A	G	7: 10,381,161	V531A	noncoding transcript	Het
Noc3l	A	G	19: 38,789,637	Y778H	probably benign	Het
Nup98	C	A	7: 102,153,196	A734S	possibly damaging	Het
Olfr1016	A	G	2: 85,799,689	Y194H	probably damaging	Het
Olfr700	T	C	7: 106,805,964	Y166C	probably damaging	Het
Olfr730	T	A	14: 50,186,582	I212F	probably damaging	Het
Olfr824	T	A	10: 130,126,887	R57*	probably null	Het
Pate4	A	T	9: 35,608,239	C52S	probably damaging	Het
Pecr	C	A	1: 72,277,331	A72S	probably benign	Het
Pomt1	A	G	2: 32,251,992	N578S	probably benign	Het
Ppm1a	T	C	12: 72,783,964	S88P	probably benign	Het
Ppm1l	T	A	3: 69,542,511		probably benign	Het
Prdm13	A	G	4: 21,685,543	S86P	unknown	Het
Prph2	T	C	17: 46,910,922	S76P	probably benign	Het
Sarnp	G	A	10: 128,833,343	R23H	probably damaging	Het
Sept1	T	C	7: 127,216,892		probably benign	Het
Serpini1	T	C	3: 75,613,174	I26T	probably benign	Het
Setdb2	A	G	14: 59,409,266	I616T	probably benign	Het
Slc2a10	T	C	2: 165,514,621	F67S	probably benign	Het
Slc38a6	T	A	12: 73,343,650		probably null	Het
Smg6	T	C	11: 74,930,162	S420P	possibly damaging	Het
Srp72	T	A	5: 76,984,162	H229Q	probably benign	Het
Ston2	A	G	12: 91,648,674	V320A	possibly damaging	Het
Stx3	A	T	19: 11,777,151	I269N	possibly damaging	Het
Tdg-ps	A	G	15: 82,516,642		noncoding transcript	Het
Tecpr1	T	A	5: 144,214,117	N291I	probably benign	Het
Tmem177	A	G	1: 119,910,823	V42A	probably benign	Het
Trim26	T	A	17: 36,857,994		probably benign	Het
Ttc17	A	G	2: 94,366,635	S456P	probably benign	Het
Tubgcp6	T	C	15: 89,103,818	Y984C	probably benign	Het
Unc5cl	A	G	17: 48,459,844	E82G	possibly damaging	Het
Uncx	T	C	5: 139,544,120	S43P	probably damaging	Het
Vmn1r1	A	G	1: 182,157,767	V111A	probably benign	Het
Vmn1r168	A	G	7: 23,541,482	I255V	probably damaging	Het
Vwce	A	G	19: 10,650,636	T487A	probably benign	Het
Xaf1	A	G	11: 72,306,856		probably benign	Het
Zfp27	G	T	7: 29,894,836	P568Q	probably damaging	Het

Other mutations in Zfp382

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02724:Zfp382	APN	7	30133737	missense	probably benign	0.00
IGL03116:Zfp382	APN	7	30134189	missense	probably damaging	1.00
R1051:Zfp382	UTSW	7	30134010	missense	probably damaging	1.00
R1371:Zfp382	UTSW	7	30133689	missense	probably benign	0.36
R1513:Zfp382	UTSW	7	30133296	missense	probably benign	0.04
R1525:Zfp382	UTSW	7	30133719	missense	probably damaging	0.99
R2416:Zfp382	UTSW	7	30134403	missense	probably damaging	1.00
R2432:Zfp382	UTSW	7	30133749	missense	probably benign
R4956:Zfp382	UTSW	7	30131554	missense	probably benign	0.00
R5734:Zfp382	UTSW	7	30134430	missense	probably damaging	1.00
R5796:Zfp382	UTSW	7	30133349	missense	probably damaging	1.00
R6062:Zfp382	UTSW	7	30133590	missense	probably damaging	1.00
R6300:Zfp382	UTSW	7	30131629	splice site	probably null
R6312:Zfp382	UTSW	7	30134538	missense	probably damaging	0.99
R6894:Zfp382	UTSW	7	30125836	missense	probably benign
R7764:Zfp382	UTSW	7	30133275	missense	probably benign	0.04
R7771:Zfp382	UTSW	7	30133335	missense	probably damaging	1.00
R7794:Zfp382	UTSW	7	30131610	missense	possibly damaging	0.84
R8207:Zfp382	UTSW	7	30134415	missense	possibly damaging	0.74
R8267:Zfp382	UTSW	7	30134504	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTACCAGGACAAGCCTC -3'
(R):5'- CACTCCTGTCATGAGGAAGG -3'

Sequencing Primer
(F):5'- GCCTCCTAAATCGATCGTAATCATC -3'
(R):5'- AAACCTCTGCTCTGGAATCTGGG -3'

Posted On

2016-03-17