Mutagenetix > Incidental Mutation

Incidental Mutation 'R6062:Zfp382'

483841

Institutional Source

Beutler Lab

Gene Symbol

Zfp382

Ensembl Gene

ENSMUSG00000074220

Gene Name

zinc finger protein 382

Synonyms

5930415A09Rik

MMRRC Submission

044227-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R6062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29821367-29834375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29833015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 222 (L222P)

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: L222P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096196
Gene: ENSMUSG00000074220
AA Change: L222P

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

0.3902

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atat1	T	A	17: 36,219,456 (GRCm39)	Q136L	probably damaging	Het
Atm	A	G	9: 53,399,887 (GRCm39)	L1531P	probably damaging	Het
Brca2	G	A	5: 150,480,354 (GRCm39)	R2708H	probably damaging	Het
Cand1	G	A	10: 119,053,915 (GRCm39)	A141V	possibly damaging	Het
Cdcp2	T	C	4: 106,959,689 (GRCm39)	S35P	probably damaging	Het
Ces4a	G	A	8: 105,864,806 (GRCm39)		probably null	Het
Colec10	T	A	15: 54,323,203 (GRCm39)	M142K	possibly damaging	Het
Crtc1	G	T	8: 70,858,839 (GRCm39)	D90E	probably damaging	Het
Csmd1	T	C	8: 16,142,319 (GRCm39)	E1528G	possibly damaging	Het
Csnk2a2	A	G	8: 96,184,097 (GRCm39)	V154A	possibly damaging	Het
Daglb	T	C	5: 143,480,358 (GRCm39)	I454T	probably benign	Het
Dtna	C	A	18: 23,755,113 (GRCm39)	N478K	possibly damaging	Het
E330034G19Rik	A	T	14: 24,343,448 (GRCm39)		probably benign	Het
Ecpas	G	T	4: 58,826,453 (GRCm39)	S1038Y	possibly damaging	Het
Eefsec	A	T	6: 88,332,611 (GRCm39)	S200T	probably benign	Het
Enthd1	T	A	15: 80,336,916 (GRCm39)	D506V	probably damaging	Het
Erbb2	A	G	11: 98,324,075 (GRCm39)	Y736C	probably damaging	Het
Gabrg1	A	G	5: 70,938,056 (GRCm39)	C183R	probably damaging	Het
Ginm1	T	A	10: 7,651,097 (GRCm39)	H103L	probably benign	Het
Golgb1	C	A	16: 36,735,033 (GRCm39)	Q1427K	possibly damaging	Het
Grb14	G	T	2: 64,852,964 (GRCm39)	Q9K	possibly damaging	Het
Hbp1	A	T	12: 31,987,246 (GRCm39)	M192K	probably damaging	Het
Herpud2	A	T	9: 25,020,284 (GRCm39)	D357E	probably damaging	Het
Idi1	A	G	13: 8,937,541 (GRCm39)	S111G	probably damaging	Het
Lrrc32	T	C	7: 98,147,748 (GRCm39)	V176A	probably benign	Het
Matn1	T	A	4: 130,679,277 (GRCm39)	D310E	probably benign	Het
Mbtps1	A	T	8: 120,257,830 (GRCm39)	L469Q	possibly damaging	Het
Muc4	A	G	16: 32,579,682 (GRCm39)	D2417G	unknown	Het
Myo7b	T	C	18: 32,101,043 (GRCm39)	T1551A	possibly damaging	Het
Neb	A	G	2: 52,075,293 (GRCm39)	M224T	probably benign	Het
Ola1	A	T	2: 73,029,842 (GRCm39)	D92E	probably damaging	Het
Or1e28-ps1	A	C	11: 73,615,386 (GRCm39)	C155G	unknown	Het
Or4l1	A	T	14: 50,166,119 (GRCm39)	M294K	probably damaging	Het
Or5ar1	T	G	2: 85,671,458 (GRCm39)	I226L	probably benign	Het
Or8b48	T	A	9: 38,450,440 (GRCm39)	M83K	probably damaging	Het
Otud4	T	C	8: 80,400,525 (GRCm39)	Y1080H	probably damaging	Het
Plce1	G	A	19: 38,513,195 (GRCm39)	A165T	probably benign	Het
Prelid2	T	C	18: 42,045,530 (GRCm39)	I127V	probably benign	Het
Rab35	A	G	5: 115,778,147 (GRCm39)	I38V	probably damaging	Het
Rab3d	T	C	9: 21,821,815 (GRCm39)	T209A	probably benign	Het
Rapgef1	A	G	2: 29,590,744 (GRCm39)	E321G	probably damaging	Het
Rem1	T	C	2: 152,470,017 (GRCm39)	M1T	probably null	Het
Rgsl1	T	C	1: 153,675,618 (GRCm39)	K181R	possibly damaging	Het
Scel	C	A	14: 103,822,572 (GRCm39)	N395K	possibly damaging	Het
Septin9	A	G	11: 117,181,626 (GRCm39)	E142G	possibly damaging	Het
Shcbp1	A	C	8: 4,814,905 (GRCm39)	M191R	probably benign	Het
Slc22a19	T	C	19: 7,651,647 (GRCm39)	N520S	probably damaging	Het
Slc28a1	C	T	7: 80,765,311 (GRCm39)	R9*	probably null	Het
Slc2a7	T	C	4: 150,252,884 (GRCm39)	V508A	probably benign	Het
Slc8a3	G	A	12: 81,361,124 (GRCm39)	P565L	probably damaging	Het
Svil	T	G	18: 5,106,724 (GRCm39)	V1855G	probably damaging	Het
Tenm3	T	G	8: 48,796,441 (GRCm39)	I455L	possibly damaging	Het
Tmem267	T	C	13: 120,070,767 (GRCm39)	S141P	probably damaging	Het
Tnn	T	A	1: 159,925,848 (GRCm39)	D1383V	probably damaging	Het
Usp9y	G	T	Y: 1,454,199 (GRCm39)	Q23K	probably benign	Het
Vmn1r46	T	C	6: 89,953,241 (GRCm39)	I30T	possibly damaging	Het
Zfp950	T	A	19: 61,108,863 (GRCm39)	K73N	possibly 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
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'- AGAACCGTGTTGTTTCCAAAAC -3'
(R):5'- TGGATGAATACCAAGGTCTGAC -3'

Sequencing Primer
(F):5'- GTGTTGTTTCCAAAACGCTATTTGAG -3'
(R):5'- GGATGAATACCAAGGTCTGACTTTTC -3'

Posted On

2017-07-14