Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02724:Zfp382'

305115

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp382

Ensembl Gene

ENSMUSG00000074220

Gene Name

zinc finger protein 382

Synonyms

5930415A09Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

IGL02724

Quality Score

Status

Chromosome

Chromosomal Location

30121942-30134950 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30133737 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 271 (Y271F)

Ref Sequence

ENSEMBL: ENSMUSP00000096196 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000098596
AA Change: Y271F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000096196
Gene: ENSMUSG00000074220
AA Change: Y271F

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

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	G	2: 93,845,776	K85Q	probably damaging	Het
Acmsd	A	T	1: 127,749,085	T116S	possibly damaging	Het
Agrn	T	A	4: 156,172,807	K1189*	probably null	Het
Alk	T	C	17: 71,985,460	R508G	probably benign	Het
Arhgap23	T	A	11: 97,491,179	Y1123N	probably damaging	Het
Arl6ip5	G	T	6: 97,232,404	M133I	probably benign	Het
Axin2	G	A	11: 108,942,946	G573D	possibly damaging	Het
B4galt2	A	G	4: 117,876,878		probably null	Het
Baz2b	G	T	2: 59,977,374	D180E	possibly damaging	Het
Btnl6	G	T	17: 34,508,175	Y460*	probably null	Het
C530008M17Rik	T	C	5: 76,858,459	V889A	unknown	Het
Cct7	A	T	6: 85,459,149	D14V	probably damaging	Het
Cd55	T	A	1: 130,449,412		probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdh2	C	T	18: 16,629,480	R526Q	probably benign	Het
Chil1	A	C	1: 134,189,243	E315A	probably damaging	Het
Cmya5	A	G	13: 93,096,655	S642P	probably benign	Het
Cpm	C	A	10: 117,629,851	T43K	probably damaging	Het
Cyp8b1	A	T	9: 121,915,387	V293D	probably benign	Het
Dock1	T	G	7: 135,163,353	D1691E	probably benign	Het
Fasn	T	C	11: 120,809,833	D2120G	probably benign	Het
Gal3st4	T	C	5: 138,265,417	K440R	probably benign	Het
Gfpt1	A	T	6: 87,056,182	K130*	probably null	Het
Gpr26	T	C	7: 131,974,392		probably null	Het
Htr2a	A	T	14: 74,645,062	I163F	probably damaging	Het
Insrr	A	G	3: 87,809,572	D673G	probably benign	Het
Ipo8	G	T	6: 148,791,481	C636*	probably null	Het
Kirrel	C	A	3: 87,090,473	E248*	probably null	Het
Lrp6	A	G	6: 134,484,265	V743A	probably damaging	Het
Lrrc45	C	A	11: 120,718,318	S374R	probably benign	Het
Map3k9	G	A	12: 81,724,742	P714S	probably benign	Het
Mrgprb8	T	A	7: 48,389,373	L264Q	possibly damaging	Het
Mroh4	C	A	15: 74,606,151	W902L	probably benign	Het
Nfat5	T	A	8: 107,358,735	D535E	probably damaging	Het
Nfatc3	T	C	8: 106,108,185	V713A	probably benign	Het
Npc1l1	C	T	11: 6,214,684	V1122M	possibly damaging	Het
Nsg2	A	G	11: 32,055,011		probably null	Het
Olfr1211	C	A	2: 88,929,448	R289L	probably damaging	Het
Olfr282	T	A	15: 98,437,779	F103L	probably benign	Het
Pax9	A	T	12: 56,709,819	H314L	possibly damaging	Het
Phf21a	A	T	2: 92,360,247	I584F	probably damaging	Het
Pip5k1c	A	G	10: 81,313,462	E536G	probably benign	Het
Plekhm3	A	G	1: 64,795,117	S736P	probably damaging	Het
Ppil2	A	G	16: 17,103,602	Y73H	probably benign	Het
Ppp3cb	T	A	14: 20,523,577		probably null	Het
Prdm9	A	T	17: 15,563,260	S14R	probably benign	Het
Proc	A	G	18: 32,134,872	I71T	probably damaging	Het
Prom2	T	A	2: 127,538,657		probably benign	Het
Psd	T	C	19: 46,319,545	T675A	probably benign	Het
Rnf215	G	T	11: 4,140,305	R341L	probably damaging	Het
Ryr3	A	G	2: 112,902,576		probably null	Het
Sh2d7	C	A	9: 54,540,821	T42N	probably benign	Het
Sh3glb2	C	T	2: 30,346,356	G279D	probably benign	Het
Slc25a46	A	G	18: 31,605,815		probably benign	Het
Snx17	T	C	5: 31,197,046	S167P	probably damaging	Het
Snx19	A	G	9: 30,432,260	N572S	possibly damaging	Het
Sptbn4	G	A	7: 27,367,679	R1937C	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Srsf11	T	C	3: 158,016,431		probably benign	Het
Taar7b	A	T	10: 24,000,683	M249L	probably benign	Het
Tle6	G	A	10: 81,600,064	Q6*	probably null	Het
Ttc30a2	T	C	2: 75,976,338	E610G	probably benign	Het
Twnk	G	T	19: 45,008,118	R330L	probably damaging	Het
Unc13a	C	A	8: 71,656,305		probably benign	Het
Vmn2r107	A	G	17: 20,356,744	T335A	possibly damaging	Het
Wdtc1	A	T	4: 133,297,478	S469R	possibly damaging	Het

Other mutations in Zfp382

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16