Mutagenetix > Incidental Mutations

Incidental Mutation 'RF010:Zfp384'

603128

Institutional Source

Beutler Lab

Gene Symbol

Zfp384

Ensembl Gene

ENSMUSG00000038346

Gene Name

zinc finger protein 384

Synonyms

C130073D16Rik, Nmp4, Ciz

Accession Numbers

Is this an essential gene?

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

Stock #

RF010 (G1)

Quality Score

115.467

Status

Not validated

Chromosome

Chromosomal Location

125009145-125037870 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

GGCCCAGG to GGCCCAGGAGCACGCCCAGG at 125036488 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032480] [ENSMUST00000046064] [ENSMUST00000054553] [ENSMUST00000084275] [ENSMUST00000088308] [ENSMUST00000112417] [ENSMUST00000112424] [ENSMUST00000112425] [ENSMUST00000112427] [ENSMUST00000112428] [ENSMUST00000140131]

AlphaFold

E9Q1A5

Predicted Effect

probably benign
Transcript: ENSMUST00000032480

SMART Domains

Protein: ENSMUSP00000032480
Gene: ENSMUSG00000030330

Domain	Start	End	E-Value	Type
Pfam:ING	5	107	5.5e-35	PFAM
low complexity region	118	131	N/A	INTRINSIC
PHD	197	242	3.67e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000046064

SMART Domains

Protein: ENSMUSP00000037986
Gene: ENSMUSG00000038346

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 benign
Transcript: ENSMUST00000054553

SMART Domains

Protein: ENSMUSP00000086354
Gene: ENSMUSG00000038346

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 benign
Transcript: ENSMUST00000084275

SMART Domains

Protein: ENSMUSP00000081296
Gene: ENSMUSG00000038346

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 benign
Transcript: ENSMUST00000088308

SMART Domains

Protein: ENSMUSP00000085648
Gene: ENSMUSG00000038346

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 benign
Transcript: ENSMUST00000112417

SMART Domains

Protein: ENSMUSP00000108036
Gene: ENSMUSG00000030330

Domain	Start	End	E-Value	Type
Pfam:ING	5	107	6.5e-35	PFAM
low complexity region	118	126	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112424

SMART Domains

Protein: ENSMUSP00000108043
Gene: ENSMUSG00000038346

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 benign
Transcript: ENSMUST00000112425

SMART Domains

Protein: ENSMUSP00000108044
Gene: ENSMUSG00000038346

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 benign
Transcript: ENSMUST00000112427

SMART Domains

Protein: ENSMUSP00000108046
Gene: ENSMUSG00000038346

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 benign
Transcript: ENSMUST00000112428

SMART Domains

Protein: ENSMUSP00000108047
Gene: ENSMUSG00000038346

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 benign
Transcript: ENSMUST00000140131

SMART Domains

Protein: ENSMUSP00000121519
Gene: ENSMUSG00000030330

Domain	Start	End	E-Value	Type
Pfam:ING	6	107	2.1e-35	PFAM
low complexity region	114	139	N/A	INTRINSIC
PHD	198	243	3.67e-12	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.8%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	GGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG	GGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG	17: 35,568,576		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096		probably benign	Het
Ankrd28	A	G	14: 31,778,986	I16T	probably damaging	Het
AY761185	GCACTGTGGGC	G	8: 20,943,911		probably null	Het
B020031M17Rik	A	T	13: 119,950,046	V8E	probably benign	Het
Bend3	T	A	10: 43,510,184	F191Y	possibly damaging	Het
Calhm1	GTGGC	GTGGCTGTGGCTATGGC	19: 47,141,273		probably benign	Het
Camkv	CGCTGCTGC	CGC	9: 107,947,860		probably benign	Het
Chga	GCA	GCATCA	12: 102,561,403		probably benign	Het
Cngb1	CTCTGGCTCTGGCTCTGGCTCTG	C	8: 95,303,650		probably null	Het
Cnot3	T	C	7: 3,656,069	V438A	probably benign	Het
Cntnap5c	T	A	17: 58,286,795	W710R	probably damaging	Het
Dyrk1a	A	G	16: 94,677,563	S404G	probably benign	Het
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,874,764		probably benign	Het
Flywch1	GTGT	GTGTGGGGAGGCTACGTACTCACCCACACCTGTTGT	17: 23,762,175		probably null	Het
Fmn2	T	A	1: 174,582,015	S605T	unknown	Het
Gab3	TCT	TCTGCT	X: 75,000,011		probably benign	Het
Gabre	GCTC	GCTCCGTCTC	X: 72,270,060		probably benign	Het
Gli3	A	G	13: 15,726,369	Y1447C	probably damaging	Het
Hibch	T	C	1: 52,913,732	V297A	probably benign	Het
Ifi213	C	G	1: 173,582,153	D462H	probably damaging	Het
Kcnh8	G	A	17: 52,978,239	R1079H	probably benign	Het
Lce1m	GCTGCTGCC	GCTGCTGCCCCCACTGCTGCC	3: 93,018,290		probably benign	Het
Lpo	A	G	11: 87,821,102	V43A	probably benign	Het
Map1a	A	AGCTCCAGCTCCAGCCCCACCTCCAGCTCCC	2: 121,306,318		probably benign	Het
Mapk9	A	G	11: 49,854,256		probably benign	Het
Mep1a	G	A	17: 43,486,235	H314Y	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356		probably null	Het
Myh3	AC	ACTTCC	11: 67,086,359		probably null	Het
Nusap1	ACGTTAGCAGTGAGGAGCAA	ACGTTAGCAGTGAGGAGCAAACTGAGATACTCGTTAGCAGTGAGGAGCAA	2: 119,627,584		probably benign	Het
Olfr1118	T	A	2: 87,308,840	V37E	possibly damaging	Het
Olfr305	T	C	7: 86,363,386	Q317R	probably benign	Het
Pdcd11	AGGAGG	A	19: 47,113,451		probably null	Het
Pfkm	T	A	15: 98,129,793	I651N	possibly damaging	Het
Phldb3	CCCCCGCCCC	CCCCC	7: 24,626,495		probably null	Het
Prkce	T	C	17: 86,488,199	V288A	probably damaging	Het
Pxmp4	A	G	2: 154,592,263	S93P	probably damaging	Het
Rfc4	T	C	16: 23,127,482	T17A	probably benign	Het
Rfx4	CTCTCTCT	CTCTCTCTCTCTCTCTATCTCTCT	10: 84,858,487		probably benign	Het
Ryr3	G	T	2: 112,775,670	A2415E	probably damaging	Het
Sbp	ACAAAGATGCTGACAACAAAGATGCTGACA	ACAAAGATGCTGACACCAAAGATGCTGACAACAAAGATGCTGACA	17: 23,945,351		probably benign	Het
Sec24c	T	A	14: 20,688,715		probably null	Het
Sec63	C	A	10: 42,806,624	A437E	probably benign	Het
Six3	GCG	GCGTCG	17: 85,621,355		probably benign	Het
Slco5a1	G	A	1: 12,871,947	T825I	probably damaging	Het
Stard8	GGA	GGAAGA	X: 99,066,517		probably benign	Het
Stxbp1	A	G	2: 32,821,915	V30A	probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,727,662		probably benign	Het
Syne1	T	A	10: 5,246,386	D3882V	possibly damaging	Het
T	A	G	17: 8,441,708	T384A	probably benign	Het
Tbc1d12	CGGGGCGG	CG	19: 38,836,940		probably benign	Het
Tcof1	CAG	CAGAAG	18: 60,835,744		probably benign	Het
Tfeb	GCA	GCAACA	17: 47,786,094		probably benign	Het
Tfeb	CAG	CAGAAG	17: 47,786,107		probably benign	Het
Thegl	CAG	CAGCGATCCTCCCCAGTCCCGCAAGGCGAG	5: 77,016,427		probably benign	Het
Thumpd3	C	T	6: 113,056,045	A248V	probably damaging	Het
Tmem181a	T	C	17: 6,280,703		probably null	Het
Tmem56	T	A	3: 121,228,884	I103L	probably benign	Het
Trim41	A	T	11: 48,807,338	H600Q	probably damaging	Het
Ttbk2	A	T	2: 120,790,339	C147*	probably null	Het
Ttll2	C	T	17: 7,351,338	A397T	probably benign	Het
Unc79	T	A	12: 103,112,787	L1737Q	probably benign	Het
Usp47	T	A	7: 112,092,938	V869E	probably damaging	Het
Vmn1r231	T	A	17: 20,889,993	Q220L	probably damaging	Het
Vmn2r26	C	T	6: 124,039,489	T304I	possibly damaging	Het
Wdr66	TCTCA	T	5: 123,274,161		probably benign	Het
Wrn	T	C	8: 33,288,765	N839S	probably benign	Het
Zfyve26	C	T	12: 79,255,338	C1828Y	probably damaging	Het
Znrd1as	CACCACCAC	CACCACCACCACCACCACCACTACCACCAC	17: 36,965,063		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
R7192:Zfp384	UTSW	6	125033312	missense	probably damaging	1.00
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
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'- CCAGGTTGAGACTTGCAGGTTG -3'
(R):5'- TGATGCTCTGCCGGCTTATAG -3'

Sequencing Primer
(F):5'- TCTCCCTCAGGAAACATACCTTATG -3'
(R):5'- CCGGCTTATAGGGGGTCAAGTC -3'

Posted On

2019-12-04