Mutagenetix > Incidental Mutation

Incidental Mutation 'R2432:Zfp382'

250445

Institutional Source

Beutler Lab

Gene Symbol

Zfp382

Ensembl Gene

ENSMUSG00000074220

Gene Name

zinc finger protein 382

Synonyms

5930415A09Rik

MMRRC Submission

040393-MU

Accession Numbers

Essential gene?

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

Stock #

R2432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29821367-29834375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29833174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 275 (D275G)

Ref Sequence

ENSEMBL: ENSMUSP00000096196 (fasta)

Gene Model

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

AlphaFold

B2RXC5

Predicted Effect

probably benign
Transcript: ENSMUST00000098596
AA Change: D275G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096196
Gene: ENSMUSG00000074220
AA Change: D275G

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,401,333 (GRCm39)		probably benign	Het
Adamts6	A	T	13: 104,563,485 (GRCm39)	Y659F	probably benign	Het
Adamts9	C	A	6: 92,834,881 (GRCm39)	G750W	probably damaging	Het
Adgrv1	GA	GAA	13: 81,688,251 (GRCm39)		probably null	Het
Aspscr1	A	G	11: 120,593,392 (GRCm39)		probably benign	Het
Calr3	A	G	8: 73,192,270 (GRCm39)		probably benign	Het
Cpt2	A	T	4: 107,761,723 (GRCm39)	Y126*	probably null	Het
Cyp2d34	A	G	15: 82,503,212 (GRCm39)	L94P	probably damaging	Het
Def6	A	T	17: 28,447,043 (GRCm39)	D558V	probably benign	Het
Dnase1l2	G	A	17: 24,661,699 (GRCm39)	T20I	possibly damaging	Het
Eif5b	A	G	1: 38,058,423 (GRCm39)	K242E	unknown	Het
Golim4	T	C	3: 75,799,249 (GRCm39)	N478S	possibly damaging	Het
Helb	A	T	10: 119,941,442 (GRCm39)	D415E	probably benign	Het
Ifna12	T	A	4: 88,521,590 (GRCm39)		probably benign	Het
Jhy	T	A	9: 40,872,182 (GRCm39)	H109L	probably benign	Het
Krt87	A	T	15: 101,386,037 (GRCm39)	Y241*	probably null	Het
Macf1	G	T	4: 123,577,789 (GRCm39)	A65E	probably damaging	Het
Mug2	C	A	6: 122,061,335 (GRCm39)	N1418K	possibly damaging	Het
Myo1f	A	G	17: 33,794,823 (GRCm39)	D21G	probably damaging	Het
Myo5a	T	A	9: 75,120,155 (GRCm39)	I1651N	possibly damaging	Het
Notch3	A	T	17: 32,372,778 (GRCm39)	C598S	probably damaging	Het
Npat	A	T	9: 53,469,435 (GRCm39)	H307L	probably damaging	Het
Nr1h2	T	C	7: 44,200,791 (GRCm39)	Q279R	possibly damaging	Het
Or4k52	T	C	2: 111,611,016 (GRCm39)	V117A	probably benign	Het
Or6c6c	A	G	10: 129,540,794 (GRCm39)	T16A	possibly damaging	Het
Pcdhb16	A	T	18: 37,612,983 (GRCm39)	N648Y	probably damaging	Het
Pdzrn3	G	T	6: 101,127,752 (GRCm39)	S971R	probably damaging	Het
Plch2	A	G	4: 155,070,621 (GRCm39)	*494Q	probably null	Het
Plekhg4	T	A	8: 106,108,468 (GRCm39)	D1170E	probably benign	Het
Plekhm3	A	G	1: 64,977,015 (GRCm39)	S152P	probably damaging	Het
Ppargc1b	G	A	18: 61,440,870 (GRCm39)	P683S	possibly damaging	Het
Prdm12	T	G	2: 31,541,864 (GRCm39)	M191R	probably benign	Het
Prdm14	T	C	1: 13,195,857 (GRCm39)	D68G	probably benign	Het
Prp2	C	T	6: 132,576,874 (GRCm39)	P54S	unknown	Het
Prpf4b	A	G	13: 35,067,324 (GRCm39)		probably benign	Het
Ptprk	T	A	10: 28,468,840 (GRCm39)	V1408E	probably damaging	Het
Rap1gds1	A	G	3: 138,662,011 (GRCm39)	M415T	probably damaging	Het
Rps6ka5	A	G	12: 100,520,664 (GRCm39)	F621S	probably damaging	Het
Rrm1	T	A	7: 102,092,279 (GRCm39)	D35E	probably benign	Het
Rxfp3	T	C	15: 11,036,226 (GRCm39)	H382R	probably damaging	Het
Slc11a1	A	G	1: 74,422,910 (GRCm39)		probably benign	Het
Slc25a13	A	T	6: 6,114,017 (GRCm39)	M285K	probably benign	Het
Slc30a3	T	C	5: 31,246,038 (GRCm39)	S231G	probably damaging	Het
Slc44a2	A	T	9: 21,256,130 (GRCm39)	I274F	probably damaging	Het
Tas2r119	A	G	15: 32,178,165 (GRCm39)	I244V	possibly damaging	Het
Tenm2	C	A	11: 35,918,018 (GRCm39)	R1914L	probably damaging	Het
Tfdp2	T	C	9: 96,192,643 (GRCm39)	M242T	probably damaging	Het
Tmprss6	A	G	15: 78,349,304 (GRCm39)		probably benign	Het
Ttc6	C	T	12: 57,668,821 (GRCm39)	P421L	possibly damaging	Het
Usp16	T	A	16: 87,263,246 (GRCm39)		probably null	Het
Usp40	T	C	1: 87,909,804 (GRCm39)	E550G	probably benign	Het
Vmn2r28	T	C	7: 5,491,701 (GRCm39)	Y182C	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
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
R8207:Zfp382	UTSW	7	29,833,840 (GRCm39)	missense	possibly damaging	0.74
R8267:Zfp382	UTSW	7	29,833,929 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTGACTTCGAAGCAGGAG -3'
(R):5'- CTGTTCCCACAGTAAGGACAC -3'

Sequencing Primer
(F):5'- CCATAAACAAATCGGAAGGGCTCTG -3'
(R):5'- ACACTGGAAGGGCCTCTC -3'

Posted On

2014-11-12