Mutagenetix > Incidental Mutations

Incidental Mutation 'R7192:Zfp384'

559653

Institutional Source

Beutler Lab

Gene Symbol

Zfp384

Ensembl Gene

ENSMUSG00000038346

Gene Name

zinc finger protein 384

Synonyms

C130073D16Rik, Nmp4, Ciz

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R7192 (G1)

Quality Score

213.009

Status

Validated

Chromosome

Chromosomal Location

125009145-125037870 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125033312 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 390 (N390K)

Ref Sequence

ENSEMBL: ENSMUSP00000081296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046064] [ENSMUST00000054553] [ENSMUST00000084275] [ENSMUST00000088308] [ENSMUST00000112424] [ENSMUST00000112425] [ENSMUST00000112427] [ENSMUST00000112428]

AlphaFold

E9Q1A5

Predicted Effect

probably damaging
Transcript: ENSMUST00000046064
AA Change: N360K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037986
Gene: ENSMUSG00000038346
AA Change: N360K

Domain	Start	End	E-Value	Type
low complexity region	188	199	N/A	INTRINSIC
ZnF_C2H2	260	282	3.47e0	SMART
ZnF_C2H2	288	310	2.99e-4	SMART
ZnF_C2H2	316	338	1.95e-3	SMART
ZnF_C2H2	344	368	7.37e-4	SMART
ZnF_C2H2	374	396	5.06e-2	SMART
ZnF_C2H2	404	426	3.44e-4	SMART
low complexity region	432	490	N/A	INTRINSIC
low complexity region	491	496	N/A	INTRINSIC
low complexity region	499	519	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000054553
AA Change: N274K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086354
Gene: ENSMUSG00000038346
AA Change: N274K

Domain	Start	End	E-Value	Type
low complexity region	133	144	N/A	INTRINSIC
ZnF_C2H2	174	196	7.26e-3	SMART
ZnF_C2H2	202	224	2.99e-4	SMART
ZnF_C2H2	230	252	1.95e-3	SMART
ZnF_C2H2	258	282	7.37e-4	SMART
ZnF_C2H2	288	310	5.06e-2	SMART
ZnF_C2H2	318	340	3.44e-4	SMART
low complexity region	346	404	N/A	INTRINSIC
low complexity region	405	410	N/A	INTRINSIC
low complexity region	413	433	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000084275
AA Change: N390K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081296
Gene: ENSMUSG00000038346
AA Change: N390K

Domain	Start	End	E-Value	Type
low complexity region	188	199	N/A	INTRINSIC
ZnF_C2H2	229	251	7.26e-3	SMART
ZnF_C2H2	257	279	2.99e-4	SMART
ZnF_C2H2	285	307	1.95e-3	SMART
ZnF_C2H2	318	340	7.37e-4	SMART
ZnF_C2H2	346	368	2.95e-3	SMART
ZnF_C2H2	374	398	7.37e-4	SMART
ZnF_C2H2	404	426	5.06e-2	SMART
ZnF_C2H2	434	456	3.44e-4	SMART
low complexity region	462	520	N/A	INTRINSIC
low complexity region	521	526	N/A	INTRINSIC
low complexity region	529	549	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000088308
AA Change: N390K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000085648
Gene: ENSMUSG00000038346
AA Change: N390K

Domain	Start	End	E-Value	Type
low complexity region	188	199	N/A	INTRINSIC
ZnF_C2H2	229	251	7.26e-3	SMART
ZnF_C2H2	257	279	2.99e-4	SMART
ZnF_C2H2	285	307	1.95e-3	SMART
ZnF_C2H2	318	340	7.37e-4	SMART
ZnF_C2H2	346	368	2.95e-3	SMART
ZnF_C2H2	374	398	7.37e-4	SMART
ZnF_C2H2	404	426	5.06e-2	SMART
ZnF_C2H2	434	456	3.44e-4	SMART
low complexity region	462	520	N/A	INTRINSIC
low complexity region	521	526	N/A	INTRINSIC
low complexity region	529	549	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112424
AA Change: N374K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108043
Gene: ENSMUSG00000038346
AA Change: N374K

Domain	Start	End	E-Value	Type
low complexity region	172	183	N/A	INTRINSIC
ZnF_C2H2	213	235	7.26e-3	SMART
ZnF_C2H2	241	263	2.99e-4	SMART
ZnF_C2H2	269	291	1.95e-3	SMART
ZnF_C2H2	302	324	7.37e-4	SMART
ZnF_C2H2	330	352	2.95e-3	SMART
ZnF_C2H2	358	382	7.37e-4	SMART
ZnF_C2H2	388	410	5.06e-2	SMART
ZnF_C2H2	418	440	3.44e-4	SMART
low complexity region	446	504	N/A	INTRINSIC
low complexity region	505	510	N/A	INTRINSIC
low complexity region	513	533	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112425
AA Change: N329K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108044
Gene: ENSMUSG00000038346
AA Change: N329K

Domain	Start	End	E-Value	Type
low complexity region	188	199	N/A	INTRINSIC
ZnF_C2H2	229	251	7.26e-3	SMART
ZnF_C2H2	257	279	2.99e-4	SMART
ZnF_C2H2	285	307	1.95e-3	SMART
ZnF_C2H2	313	337	7.37e-4	SMART
ZnF_C2H2	343	365	5.06e-2	SMART
ZnF_C2H2	373	395	3.44e-4	SMART
low complexity region	401	459	N/A	INTRINSIC
low complexity region	460	465	N/A	INTRINSIC
low complexity region	468	488	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112427
AA Change: N390K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108046
Gene: ENSMUSG00000038346
AA Change: N390K

Domain	Start	End	E-Value	Type
low complexity region	188	199	N/A	INTRINSIC
ZnF_C2H2	229	251	7.26e-3	SMART
ZnF_C2H2	257	279	2.99e-4	SMART
ZnF_C2H2	285	307	1.95e-3	SMART
ZnF_C2H2	318	340	7.37e-4	SMART
ZnF_C2H2	346	368	2.95e-3	SMART
ZnF_C2H2	374	398	7.37e-4	SMART
ZnF_C2H2	404	426	5.06e-2	SMART
ZnF_C2H2	434	456	3.44e-4	SMART
low complexity region	462	520	N/A	INTRINSIC
low complexity region	521	526	N/A	INTRINSIC
low complexity region	529	549	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112428
AA Change: N360K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108047
Gene: ENSMUSG00000038346
AA Change: N360K

Domain	Start	End	E-Value	Type
low complexity region	188	199	N/A	INTRINSIC
ZnF_C2H2	260	282	3.47e0	SMART
ZnF_C2H2	288	310	2.99e-4	SMART
ZnF_C2H2	316	338	1.95e-3	SMART
ZnF_C2H2	344	368	7.37e-4	SMART
ZnF_C2H2	374	396	5.06e-2	SMART
ZnF_C2H2	404	426	3.44e-4	SMART
low complexity region	432	490	N/A	INTRINSIC
low complexity region	491	496	N/A	INTRINSIC
low complexity region	499	519	N/A	INTRINSIC

Meta Mutation Damage Score

0.4176

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (72/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that nuclear matrix transcription factors (NP/NMP4) may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants. Recurrent rearrangements of this gene with the Ewing's sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Apr 2011]
PHENOTYPE: Homozygous mice are small and males have a small testis. Some males develop infertility and exhibit variable degrees of spermatogenic cell degeneration within the seminiferous tubules and increased apoptosis of spermatogenic cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	G	A	2: 30,796,176	T329I	probably damaging	Het
Actl6a	C	A	3: 32,720,224	P290H	probably damaging	Het
Akap9	T	A	5: 4,005,723		probably null	Het
Bach1	C	T	16: 87,729,663	S671L	possibly damaging	Het
Cacna1c	T	C	6: 118,656,249	I1099V		Het
Cage1	G	T	13: 38,019,244	P615T	probably benign	Het
Caskin2	C	A	11: 115,801,376	R861L	probably damaging	Het
Cc2d2b	A	G	19: 40,774,437	T386A	unknown	Het
Ccndbp1	A	G	2: 121,012,943	D272G	probably damaging	Het
Cep192	T	A	18: 67,850,528	V1553E	probably damaging	Het
Chrm5	C	T	2: 112,480,327	G148D	probably damaging	Het
Cntnap4	T	C	8: 112,881,800	V1284A	probably benign	Het
Cpd	T	C	11: 76,814,841	Y355C	probably damaging	Het
Csmd3	C	T	15: 47,704,237	V1266I		Het
Cyfip2	T	C	11: 46,254,666	E609G	probably benign	Het
Dbr1	T	C	9: 99,576,702		probably null	Het
Dmxl1	T	C	18: 49,955,853	Y2800H	probably damaging	Het
Dnajc6	G	T	4: 101,597,803	A64S	probably benign	Het
Dpp8	A	T	9: 65,045,786	N248I	possibly damaging	Het
Dsp	A	T	13: 38,195,593	I2105F	probably benign	Het
Edem1	G	A	6: 108,829,004	V89M	probably benign	Het
Eml4	A	G	17: 83,454,461	Q528R	probably benign	Het
Epb42	A	T	2: 121,024,097	V669D	unknown	Het
Fat4	A	T	3: 38,980,464	Q2755L	probably benign	Het
Gata6	A	G	18: 11,054,475	K135E	possibly damaging	Het
Gm36079	T	A	13: 120,026,705	K103*	probably null	Het
Gm4788	T	A	1: 139,739,295	H414L	probably damaging	Het
Gmeb1	A	T	4: 132,227,890	F325I	probably benign	Het
H2-M10.3	C	T	17: 36,366,559	E276K	probably damaging	Het
Hist1h4m	A	T	13: 21,812,057	K92*	probably null	Het
Ifi207	T	C	1: 173,729,018	N718S	not run	Het
Il6st	A	G	13: 112,495,207	N427D	probably benign	Het
Kat7	T	A	11: 95,275,830	M509L	probably benign	Het
Klk1b4	T	C	7: 44,209,621	V21A	probably benign	Het
Malt1	T	A	18: 65,437,827	L78Q	probably benign	Het
Mertk	A	G	2: 128,793,108		probably null	Het
Myo1b	A	G	1: 51,757,217	L1016P	probably damaging	Het
Neu4	A	G	1: 94,025,141	I411V	probably benign	Het
Nutm2	A	T	13: 50,473,069	D420V	probably damaging	Het
Olfr1364	A	G	13: 21,574,369	L29P	probably damaging	Het
Olfr1404	T	A	1: 173,216,008	M119K	probably damaging	Het
Olfr206	T	C	16: 59,345,179	D174G	probably benign	Het
Olfr728	T	C	14: 50,140,120	E173G	possibly damaging	Het
Pcdha12	C	T	18: 37,020,263	R12W	probably benign	Het
Pdgfra	G	T	5: 75,183,106	D763Y	probably damaging	Het
Pkd2	T	C	5: 104,486,657	V518A	probably benign	Het
Prb1	G	T	6: 132,207,372	P433T	unknown	Het
Ptrh2	A	G	11: 86,690,009	T151A	probably damaging	Het
Qars	T	A	9: 108,511,561	N273K	probably damaging	Het
Robo2	T	C	16: 73,920,750	Y1154C	probably benign	Het
Rps6kc1	T	A	1: 190,800,359	D482V	probably damaging	Het
Sec16b	T	C	1: 157,529,443	S74P	probably benign	Het
Serpinb2	A	T	1: 107,524,576	I295F	probably damaging	Het
Sh3pxd2b	T	A	11: 32,414,318	D301E	probably damaging	Het
Sipa1l2	G	A	8: 125,422,609	T1637I	probably benign	Het
Slc27a4	A	T	2: 29,805,929	N159Y	probably damaging	Het
Stat1	A	C	1: 52,135,621	K161Q	possibly damaging	Het
Stc2	T	C	11: 31,369,872		probably benign	Het
Strip1	A	G	3: 107,615,335	W681R	possibly damaging	Het
Sv2a	G	A	3: 96,193,746	G687S	probably damaging	Het
Thnsl2	C	T	6: 71,139,755	V138I	probably benign	Het
Tmco3	G	A	8: 13,319,605		probably null	Het
Tnfrsf1a	T	C	6: 125,361,596	S235P	unknown	Het
Tpbg	T	A	9: 85,844,032	L18*	probably null	Het
Trabd2b	A	T	4: 114,610,020	Q482L	possibly damaging	Het
Trim35	T	A	14: 66,297,446	F126Y	probably damaging	Het
Ttn	A	T	2: 76,827,944	V12364D	unknown	Het
Ubac2	A	G	14: 121,973,716	Y166C	probably damaging	Het
Unc13b	T	A	4: 43,258,519	V1320D	probably damaging	Het
Usp34	T	A	11: 23,460,571	Y2693N		Het
Utp20	A	T	10: 88,772,459	M1572K	probably benign	Het
Vmn1r7	C	T	6: 57,024,467	M269I	probably benign	Het
Vmn2r3	C	T	3: 64,259,943	G589D	probably benign	Het
Vrtn	A	T	12: 84,648,862	M129L	probably damaging	Het
Zfp273	A	T	13: 67,825,064	T104S	possibly damaging	Het
Znfx1	A	G	2: 167,042,190	M933T	probably benign	Het

Other mutations in Zfp384

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01335:Zfp384	APN	6	125025053	missense	probably benign	0.03
IGL01568:Zfp384	APN	6	125024132	missense	probably damaging	1.00
IGL01632:Zfp384	APN	6	125024761	missense	probably damaging	1.00
IGL03408:Zfp384	APN	6	125035713	missense	probably damaging	1.00
FR4304:Zfp384	UTSW	6	125036493	unclassified	probably benign
FR4340:Zfp384	UTSW	6	125036463	unclassified	probably benign
R0839:Zfp384	UTSW	6	125036668	missense	probably benign	0.01
R1370:Zfp384	UTSW	6	125036453	missense	probably benign	0.04
R1427:Zfp384	UTSW	6	125024884	missense	probably damaging	1.00
R2441:Zfp384	UTSW	6	125036649	missense	probably benign	0.01
R2986:Zfp384	UTSW	6	125024896	missense	possibly damaging	0.78
R4003:Zfp384	UTSW	6	125033237	splice site	probably benign
R4833:Zfp384	UTSW	6	125030848	missense	probably damaging	1.00
R4860:Zfp384	UTSW	6	125030930	synonymous	silent
R5084:Zfp384	UTSW	6	125023679	splice site	probably benign
R5137:Zfp384	UTSW	6	125036509	unclassified	probably benign
R5449:Zfp384	UTSW	6	125024138	missense	probably damaging	1.00
R5558:Zfp384	UTSW	6	125036509	unclassified	probably benign
R5720:Zfp384	UTSW	6	125036624	missense	probably benign	0.19
R5849:Zfp384	UTSW	6	125024099	missense	possibly damaging	0.91
R5961:Zfp384	UTSW	6	125024034	missense	probably damaging	1.00
R6165:Zfp384	UTSW	6	125024933	splice site	probably null
R6948:Zfp384	UTSW	6	125024910	missense	probably benign	0.08
R7106:Zfp384	UTSW	6	125024259	missense	probably benign	0.23
R7320:Zfp384	UTSW	6	125024830	missense	possibly damaging	0.92
R7730:Zfp384	UTSW	6	125031672	missense	probably benign	0.02
R7861:Zfp384	UTSW	6	125036325	missense	probably damaging	1.00
R8080:Zfp384	UTSW	6	125036558	missense	unknown
R9021:Zfp384	UTSW	6	125036373	missense
RF002:Zfp384	UTSW	6	125036471	unclassified	probably benign
RF003:Zfp384	UTSW	6	125036471	unclassified	probably benign
RF003:Zfp384	UTSW	6	125036476	unclassified	probably benign
RF003:Zfp384	UTSW	6	125036483	unclassified	probably benign
RF010:Zfp384	UTSW	6	125036471	unclassified	probably benign
RF010:Zfp384	UTSW	6	125036488	unclassified	probably benign
RF011:Zfp384	UTSW	6	125036476	unclassified	probably benign
RF014:Zfp384	UTSW	6	125036466	unclassified	probably benign
RF015:Zfp384	UTSW	6	125036481	unclassified	probably benign
RF018:Zfp384	UTSW	6	125036489	unclassified	probably benign
RF020:Zfp384	UTSW	6	125036455	unclassified	probably benign
RF020:Zfp384	UTSW	6	125036488	unclassified	probably benign
RF022:Zfp384	UTSW	6	125036471	unclassified	probably benign
RF024:Zfp384	UTSW	6	125036489	unclassified	probably benign
RF026:Zfp384	UTSW	6	125036492	unclassified	probably benign
RF027:Zfp384	UTSW	6	125036490	unclassified	probably benign
RF030:Zfp384	UTSW	6	125036483	unclassified	probably benign
RF056:Zfp384	UTSW	6	125036490	unclassified	probably benign
RF057:Zfp384	UTSW	6	125036496	unclassified	probably benign
RF062:Zfp384	UTSW	6	125036466	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTTGGAAGGCAGCCTGAAG -3'
(R):5'- GGTGTATGTCCAAATGCACATGAATTC -3'

Sequencing Primer
(F):5'- GGCAGCCTGAAGAACCTG -3'
(R):5'- TTGCTCAGGCTGACATGAAC -3'

Posted On

2019-06-26