Mutagenetix > Incidental Mutation

Incidental Mutation 'R6312:Zfp382'

509815

Institutional Source

Beutler Lab

Gene Symbol

Zfp382

Ensembl Gene

ENSMUSG00000074220

Gene Name

zinc finger protein 382

Synonyms

5930415A09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R6312 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30121942-30134950 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30134538 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 538 (R538H)

Ref Sequence

ENSEMBL: ENSMUSP00000096196 (fasta)

Gene Model

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

AlphaFold

B2RXC5

Predicted Effect

probably damaging
Transcript: ENSMUST00000098596
AA Change: R538H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096196
Gene: ENSMUSG00000074220
AA Change: R538H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,889,767	S472P	possibly damaging	Het
9430007A20Rik	A	T	4: 144,528,502	H164L	probably benign	Het
Abraxas2	G	A	7: 132,874,965	A145T	probably damaging	Het
AC153874.1	T	A	10: 77,847,127		probably benign	Het
Acadvl	T	A	11: 70,011,767	M375L	probably damaging	Het
Ankdd1a	C	T	9: 65,508,061	A227T	possibly damaging	Het
Arl4d	T	C	11: 101,667,253	*202R	probably null	Het
B3gat2	G	T	1: 23,815,467	E83*	probably null	Het
BC017158	T	C	7: 128,273,543	K411R	probably benign	Het
Bmper	C	A	9: 23,406,791	Q569K	possibly damaging	Het
C2cd4d	C	A	3: 94,364,435	P336H	probably damaging	Het
Cct2	A	T	10: 117,056,055	S363T	probably benign	Het
Cers5	A	G	15: 99,747,115	V119A	probably benign	Het
Cfhr2	C	T	1: 139,831,079	V78I	possibly damaging	Het
Crocc2	A	T	1: 93,215,710	K1345*	probably null	Het
Cyp4f39	T	C	17: 32,483,294	M255T	probably benign	Het
Dpp6	A	T	5: 27,725,671	I834F	possibly damaging	Het
Dpy19l4	T	A	4: 11,289,671	K205*	probably null	Het
Epg5	T	A	18: 77,979,211	D1056E	possibly damaging	Het
Fam20a	A	C	11: 109,674,630	C452G	probably damaging	Het
Gnai2	A	T	9: 107,635,117	V34E	probably damaging	Het
Gng3	A	G	19: 8,838,633	V7A	probably benign	Het
Hdc	A	G	2: 126,607,406	V77A	possibly damaging	Het
Hint1	G	A	11: 54,869,990	C85Y	probably benign	Het
Kif17	C	T	4: 138,288,193	S551L	probably benign	Het
Lgr5	A	G	10: 115,452,924	L581P	probably damaging	Het
Lig4	G	T	8: 9,971,739	N680K	probably benign	Het
Lipi	T	A	16: 75,573,915	Y138F	probably damaging	Het
Lrp2	C	T	2: 69,436,681	G4294E	probably damaging	Het
Lrrc7	A	G	3: 158,160,609	M1165T	probably benign	Het
Mtpap	T	C	18: 4,396,175	I489T	possibly damaging	Het
Nlrp1b	T	A	11: 71,228,397	N24I	probably benign	Het
Nlrp4a	A	G	7: 26,449,396	T143A	probably benign	Het
Nudt2	A	G	4: 41,480,386	T90A	probably benign	Het
Olfr1055	A	T	2: 86,347,581	F62I	probably damaging	Het
Olfr352	A	T	2: 36,870,465	I300L	probably benign	Het
Olfr659	T	A	7: 104,671,589	Y296N	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Olfr883	TTGCTGT	TTGCTGTCTGCTGT	9: 38,026,541		probably null	Het
Olfr883	GTTT	GTTTGCTGTTTT	9: 38,026,546		probably null	Het
Olfr883	TTT	TTTGCTGATT	9: 38,026,547		probably null	Het
Olfr883	T	TGCTGTTC	9: 38,026,549		probably null	Het
Osmr	A	G	15: 6,823,638	V592A	probably damaging	Het
Rbp2	G	T	9: 98,490,647	S13I	probably benign	Het
Rsf1	A	AGGGCGACGG	7: 97,579,904		probably null	Het
Slc6a7	A	G	18: 61,002,385	S381P	probably benign	Het
Slitrk6	A	G	14: 110,750,247	L676P	probably benign	Het
Sspo	T	C	6: 48,457,366		probably null	Het
Tectb	CT	C	19: 55,192,662		probably null	Homo
Tma16	T	C	8: 66,481,466	E79G	probably damaging	Het
Trim14	G	T	4: 46,507,257	H320N	probably damaging	Het
Trim63	A	G	4: 134,325,697	D323G	probably damaging	Het
Vash2	C	A	1: 190,958,683	R309L	probably benign	Het
Vmn1r62	G	A	7: 5,676,084	V255M	possibly damaging	Het
Vmn2r53	T	A	7: 12,598,639		probably null	Het
Zfp592	T	A	7: 81,023,436	D49E	probably benign	Het
Zfp60	T	C	7: 27,748,776	C290R	probably damaging	Het
Zfp69	G	A	4: 120,949,517		probably benign	Het
Zfp790	G	T	7: 29,828,222	G111W	probably damaging	Het
Zfp948	T	C	17: 21,587,167	I207T	possibly 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
R4864:Zfp382	UTSW	7	30133460	missense	possibly damaging	0.58
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
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'- AGAAGGCAACCCTCACCAGG -3'
(R):5'- GCTGAAAGCACTCAGTATCAAAA -3'

Sequencing Primer
(F):5'- CTACGAATGCACTCAGTGTGG -3'
(R):5'- GGTGGCATAGACCTTTAATCCCAG -3'

Posted On

2018-04-02