Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:Zfp384'

602556

Institutional Source

Beutler Lab

Gene Symbol

Zfp384

Ensembl Gene

ENSMUSG00000038346

Gene Name

zinc finger protein 384

Synonyms

C130073D16Rik, Nmp4, Ciz

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

RF002 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

125009145-125037870 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

GCCCAGGCCCAGGCCCAGGCCCAG to GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG at 125036471 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: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,425,235		probably benign	Het
Angptl1	A	T	1: 156,857,224	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 51,805,593		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,512,905		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,512,927		probably benign	Het
Car13	T	C	3: 14,654,914	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,712,523		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,712,528		probably benign	Het
Cdh26	T	C	2: 178,466,631	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,561,421		probably benign	Het
Col11a1	A	T	3: 114,217,001	I1689L	unknown	Het
Dnah6	T	G	6: 73,101,889	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,455,186		probably benign	Het
Fah	A	C	7: 84,589,628	N336K	probably damaging	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Fbxo11	A	T	17: 87,996,053	I664K		Het
Fcgbp	A	G	7: 28,089,755	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 72,270,057		probably null	Het
Gm1110	A	G	9: 26,920,640	Y72H	probably damaging	Het
Gm14025	A	G	2: 129,038,794	F404S		Het
Inpp5e	C	T	2: 26,408,377	A71T	possibly damaging	Het
Iqcm	C	T	8: 75,577,899	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 93,018,283		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 93,018,299		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 74,947,574		probably benign	Het
Lyst	A	G	13: 13,634,363	D206G	probably benign	Het
Map4k5	A	T	12: 69,856,856	D58E	probably damaging	Het
Mapkapk2	A	G	1: 131,056,513	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,652,529		probably benign	Het
Men1	T	C	19: 6,340,116	S600P	probably damaging	Het
Mllt1	C	T	17: 56,896,300	V394M	probably benign	Het
Mllt1	C	A	17: 56,896,301	M393I	possibly damaging	Het
Nacc1	T	C	8: 84,676,219	E315G	possibly damaging	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,941,047		probably benign	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,050		probably benign	Het
Nid2	TAACACCGCCA	TA	14: 19,751,366		probably benign	Het
Olfr1484	T	A	19: 13,586,051	I206N	probably damaging	Het
Parp2	A	G	14: 50,817,386	E262G	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,279,375		probably null	Het
Pop1	G	A	15: 34,502,437	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,267,339	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,799,629	D810N	probably damaging	Het
Prpf4b	T	A	13: 34,884,236	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,608,921		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,608,925		probably null	Het
Sdk2	T	C	11: 113,885,252	E208G	probably benign	Het
Smurf2	G	T	11: 106,852,587	P211Q	probably benign	Het
Snx25	C	A	8: 46,116,181		probably null	Het
Spata6	T	A	4: 111,828,305	M469K	probably benign	Het
Spta1	G	T	1: 174,231,360	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564		probably benign	Het
Stard8	GAG	GAGTAG	X: 99,066,515		probably null	Het
Tfeb	AGC	AGCGGC	17: 47,786,102		probably benign	Het
Tlcd1	T	A	11: 78,180,194	L203Q	probably benign	Het
Tlr11	T	C	14: 50,361,225	F223L	possibly damaging	Het
Usp48	T	A	4: 137,605,795	V100D	probably damaging	Het
Vmn2r56	G	A	7: 12,694,830	T503I	probably benign	Het
Vps18	T	C	2: 119,297,390	L898P	probably damaging	Het
Zfp706	T	A	15: 37,003,705	Y39F	probably benign	Het
Zhx3	T	A	2: 160,781,806	N147I	probably damaging	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
R9568:Zfp384	UTSW	6	125024833	missense	possibly damaging	0.70
R9606:Zfp384	UTSW	6	125030839	missense	possibly damaging	0.85
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'- AGAGCCCAGGTTGAGACTTG -3'
(R):5'- ATGCTCTGCCGGCTTATAG -3'

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

Posted On

2019-12-04