Mutagenetix > Incidental Mutation

Incidental Mutation 'R8207:Zfp382'

635960

Institutional Source

Beutler Lab

Gene Symbol

Zfp382

Ensembl Gene

ENSMUSG00000074220

Gene Name

zinc finger protein 382

Synonyms

5930415A09Rik

MMRRC Submission

067630-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R8207 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29821367-29834375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29833840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 497 (D497G)

Ref Sequence

ENSEMBL: ENSMUSP00000096196 (fasta)

Gene Model

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

AlphaFold

B2RXC5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098596
AA Change: D497G

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096196
Gene: ENSMUSG00000074220
AA Change: D497G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (49/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aen	G	A	7: 78,552,491 (GRCm39)	M150I	possibly damaging	Het
Arhgef11	A	G	3: 87,606,082 (GRCm39)	N279S	possibly damaging	Het
Arid3a	T	C	10: 79,786,760 (GRCm39)		probably null	Het
Casp8ap2	A	G	4: 32,646,446 (GRCm39)	T1840A	possibly damaging	Het
Ccdc14	T	A	16: 34,525,413 (GRCm39)	N235K	possibly damaging	Het
Cdh20	T	C	1: 109,922,076 (GRCm39)	V56A	probably damaging	Het
Clec16a	G	A	16: 10,512,574 (GRCm39)	R837H	probably damaging	Het
Clec16a	A	G	16: 10,445,312 (GRCm39)	N518S	probably benign	Het
Cog7	T	C	7: 121,576,515 (GRCm39)	D137G	possibly damaging	Het
Cpt1b	T	C	15: 89,303,018 (GRCm39)	T649A	probably damaging	Het
Efcab8	C	G	2: 153,631,145 (GRCm39)	L192V	probably damaging	Het
Farp2	A	G	1: 93,548,965 (GRCm39)	R1024G	probably benign	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Fmo1	T	A	1: 162,677,676 (GRCm39)	T147S	probably benign	Het
Fryl	A	C	5: 73,257,843 (GRCm39)		probably null	Het
Galnt13	A	C	2: 54,770,122 (GRCm39)	I305L	probably benign	Het
Guca2a	A	G	4: 119,494,951 (GRCm39)	N2D	unknown	Het
Iqcd	C	T	5: 120,740,514 (GRCm39)	R282W	probably damaging	Het
Lamc1	A	C	1: 153,126,268 (GRCm39)	C475G	probably damaging	Het
Map3k5	AAAAGAAAAAGA	AA	10: 19,986,612 (GRCm39)		probably null	Het
Med13	A	T	11: 86,194,375 (GRCm39)	D789E	probably damaging	Het
Mn1	A	G	5: 111,569,651 (GRCm39)	Y1207C	probably damaging	Het
Mroh2b	A	G	15: 4,967,892 (GRCm39)	D977G	possibly damaging	Het
Mrpl53	A	T	6: 83,086,169 (GRCm39)	N26I	probably damaging	Het
Nell1	A	T	7: 49,869,760 (GRCm39)		probably null	Het
Ogdh	T	G	11: 6,299,329 (GRCm39)	F743V	probably benign	Het
Or4d10b	A	T	19: 12,036,222 (GRCm39)	M298K	possibly damaging	Het
Or4n4	C	T	14: 50,519,036 (GRCm39)	V225I	probably benign	Het
Or6c3	A	G	10: 129,308,953 (GRCm39)	T131A	probably benign	Het
Plscr1l1	T	A	9: 92,233,061 (GRCm39)	F61L	probably benign	Het
Pmvk	A	G	3: 89,375,899 (GRCm39)	E174G	probably benign	Het
Pou6f2	T	C	13: 18,414,158 (GRCm39)	N206D		Het
Prelid3a	A	T	18: 67,606,018 (GRCm39)	S42C	probably benign	Het
Riok1	T	A	13: 38,236,296 (GRCm39)	H347Q	probably damaging	Het
Ryr1	A	G	7: 28,789,650 (GRCm39)	L1488P	probably damaging	Het
Shkbp1	A	G	7: 27,052,109 (GRCm39)	V158A	probably benign	Het
Slc9c1	A	G	16: 45,360,076 (GRCm39)	I43M	possibly damaging	Het
Smarca2	A	G	19: 26,654,080 (GRCm39)	N755S	possibly damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tfb2m	G	A	1: 179,373,668 (GRCm39)	P10L	probably benign	Het
Trim30c	T	C	7: 104,032,703 (GRCm39)	M252V	probably benign	Het
Ttll1	A	G	15: 83,384,279 (GRCm39)	L116P	probably damaging	Het
Tubd1	C	T	11: 86,440,248 (GRCm39)	H91Y	possibly damaging	Het
Vgll4	A	G	6: 114,839,786 (GRCm39)	S175P	probably damaging	Het
Vmn1r79	A	G	7: 11,910,415 (GRCm39)	Y99C	possibly damaging	Het
Vmn2r80	C	T	10: 79,030,150 (GRCm39)	Q659*	probably null	Het
Zfp41	A	G	15: 75,490,384 (GRCm39)	E112G	probably damaging	Het
Zfyve26	A	G	12: 79,307,605 (GRCm39)	S1754P	probably damaging	Het

Other mutations in Zfp382

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02724:Zfp382	APN	7	29,833,162 (GRCm39)	missense	probably benign	0.00
IGL03116:Zfp382	APN	7	29,833,614 (GRCm39)	missense	probably damaging	1.00
R1051:Zfp382	UTSW	7	29,833,435 (GRCm39)	missense	probably damaging	1.00
R1371:Zfp382	UTSW	7	29,833,114 (GRCm39)	missense	probably benign	0.36
R1513:Zfp382	UTSW	7	29,832,721 (GRCm39)	missense	probably benign	0.04
R1525:Zfp382	UTSW	7	29,833,144 (GRCm39)	missense	probably damaging	0.99
R2416:Zfp382	UTSW	7	29,833,828 (GRCm39)	missense	probably damaging	1.00
R2432:Zfp382	UTSW	7	29,833,174 (GRCm39)	missense	probably benign
R4864:Zfp382	UTSW	7	29,832,885 (GRCm39)	missense	possibly damaging	0.58
R4956:Zfp382	UTSW	7	29,830,979 (GRCm39)	missense	probably benign	0.00
R5734:Zfp382	UTSW	7	29,833,855 (GRCm39)	missense	probably damaging	1.00
R5796:Zfp382	UTSW	7	29,832,774 (GRCm39)	missense	probably damaging	1.00
R6062:Zfp382	UTSW	7	29,833,015 (GRCm39)	missense	probably damaging	1.00
R6300:Zfp382	UTSW	7	29,831,054 (GRCm39)	splice site	probably null
R6312:Zfp382	UTSW	7	29,833,963 (GRCm39)	missense	probably damaging	0.99
R6894:Zfp382	UTSW	7	29,825,261 (GRCm39)	missense	probably benign
R7764:Zfp382	UTSW	7	29,832,700 (GRCm39)	missense	probably benign	0.04
R7771:Zfp382	UTSW	7	29,832,760 (GRCm39)	missense	probably damaging	1.00
R7794:Zfp382	UTSW	7	29,831,035 (GRCm39)	missense	possibly damaging	0.84
R8267:Zfp382	UTSW	7	29,833,929 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCTACCTTATCGAGCACG -3'
(R):5'- GGGTAATGAGGTTCGATTTACAGC -3'

Sequencing Primer
(F):5'- GAGAAGCCCTACATTTGCTGTCAG -3'
(R):5'- GCTAAAGAATTTTCCACACTCTTGAC -3'

Posted On

2020-07-13