Mutagenetix > Incidental Mutation

Incidental Mutation 'RF024:Zfp384'

604052

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: 0.211) question?

Stock #

RF024 (G1)

Quality Score

217.881

Status

Not validated

Chromosome

Chromosomal Location

125009145-125037870 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

GCCCAGGC to GCCCAGGCCCAGCCCCAGGC at 125036489 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: 99.2%
20x: 98.3%

Validation Efficiency

98% (55/56)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	T	4: 53,049,125	T1651N	probably damaging	Het
Abca17	T	TACCTG	17: 24,287,732		probably null	Het
Adgra3	A	T	5: 50,013,387		probably null	Het
Ank1	T	A	8: 23,119,344	F1380I	probably benign	Het
Apcs	A	T	1: 172,894,242	M179K	probably damaging	Het
Asb7	C	T	7: 66,647,883	R287Q	probably damaging	Het
Begain	G	GCCGCCT	12: 109,033,437		probably null	Het
Cacna2d1	A	G	5: 16,025,776	T69A	possibly damaging	Het
Ccdc170	CCA	CCAACA	10: 4,561,024		probably benign	Het
Ccdc69	A	G	11: 55,060,523	L24P	probably damaging	Het
Cdh16	T	G	8: 104,617,052	N604T	probably damaging	Het
Crybg1	A	G	10: 44,004,745	V149A	probably benign	Het
Cyb5r4	ACACTGCCCAGGGA	ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGA	9: 87,040,435		probably benign	Het
Dnmt1	CAGTTCCTACCTCGTT	CAGTTCCTACCTCGTTTTGGGGGCGGAGCAAAGTTCCTACCTCGTT	9: 20,910,130		probably null	Het
Dnmt1	ACCTCGTT	ACCTCGTTTTGGGGGCGGAGCACAGTTCCTCCCTCGTT	9: 20,910,138		probably benign	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,874,762		probably benign	Het
Enah	GTGGCGGC	G	1: 181,921,934		probably null	Het
Entpd2	CTT	CTTT	2: 25,400,895		probably null	Het
Epha2	CCCCC	CCCCCC	4: 141,323,406		unknown	Het
Fam114a2	T	C	11: 57,493,033	T359A	probably benign	Het
Farp1	A	G	14: 121,237,148	I258V	probably damaging	Het
Fbxw28	G	T	9: 109,338,526	Y54*	probably null	Het
Gabre	CAGGCTCA	C	X: 72,270,177		probably null	Het
Gm17660	A	C	5: 104,074,859		probably null	Het
Gprc5d	A	T	6: 135,116,519	L130Q	probably damaging	Het
H13	G	A	2: 152,669,669	E30K	probably damaging	Het
Herc2	C	T	7: 56,226,525	R4429C	probably damaging	Het
Kif21b	A	T	1: 136,158,341	T817S	probably damaging	Het
Kl	A	C	5: 150,953,420	Y235S	probably benign	Het
Klk5	T	A	7: 43,842,374	V20D	possibly damaging	Het
Krtap28-10	TCCCACA	TCCCACACCCACA	1: 83,042,123		probably benign	Het
Krtap28-10	CAC	CACGACAGCCACAGCAAC	1: 83,042,252		probably benign	Het
Lamc2	T	A	1: 153,152,055	T208S	possibly damaging	Het
Map1a	GCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA	2: 121,306,307		probably benign	Het
Map3k5	A	T	10: 20,100,172	N804I	probably damaging	Het
Map6d1	G	A	16: 20,241,000	T105I	probably benign	Het
Mbd1	TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,273,573		probably benign	Het
Mbd1	GTCTTCGTCTGCATCTGCATCTGCATCT	GTCT	18: 74,273,610		probably benign	Het
Mkl1	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	15: 81,018,255		probably benign	Het
Mrgprx1	A	AGAC	7: 48,021,511		probably benign	Het
Mroh2a	C	A	1: 88,242,485	L710M	probably damaging	Het
Msmb	A	G	14: 32,158,090	D79G	probably damaging	Het
Nab2	A	T	10: 127,664,364	D286E	probably benign	Het
Nrxn1	G	A	17: 90,362,876	R1144C	probably damaging	Het
Otog	A	T	7: 46,287,669	T1601S	probably damaging	Het
Pan2	G	A	10: 128,315,535	E842K	probably benign	Het
Pcca	C	T	14: 122,684,898	T357I	probably damaging	Het
Pcnx	C	T	12: 81,917,727	P223S	probably damaging	Het
Prop1	A	C	11: 50,951,130	Y150D	possibly damaging	Het
Prss56	T	C	1: 87,187,170	L465P	probably benign	Het
Psip1	T	C	4: 83,460,498	I353M	probably damaging	Het
Rapgef3	A	C	15: 97,760,740	H170Q	probably benign	Het
Rasal2	A	T	1: 157,147,790	S1150T	probably damaging	Het
Rtbdn	C	CAGCGGA	8: 84,956,179		probably benign	Het
Sap30bp	T	A	11: 115,960,507	I135N	probably damaging	Het
Sbp	ATG	ATGCTGACAACAAAGCTG	17: 23,945,387		probably benign	Het
Slc35e4	A	T	11: 3,907,960	L215Q	possibly damaging	Het
Slc6a20b	A	T	9: 123,598,342		probably benign	Het
Smarca2	CAGC	CAGCCCAAGC	19: 26,631,020		probably benign	Het
Surf4	A	T	2: 26,922,167	I183N	probably benign	Het
Tcof1	CAG	CAGAAG	18: 60,835,738		probably benign	Het
Timm23	T	A	14: 32,180,555	*210C	probably null	Het
Tnfaip8	ACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,046,831		probably benign	Het
Trim66	A	T	7: 109,460,740	L813Q	possibly damaging	Het
Trip10	G	A	17: 57,255,045	A224T	probably benign	Het
Ttn	T	C	2: 76,907,599	T4245A	unknown	Het
Ttn	T	A	2: 76,908,025	I4103F	unknown	Het
Ubn2	T	A	6: 38,463,628	M313K	probably damaging	Het
Ubr5	T	C	15: 38,028,652	N521S		Het
Utp20	A	T	10: 88,825,457	D29E	probably damaging	Het
Vmn2r60	T	A	7: 42,140,939	V450E	probably benign	Het
Wdr66	GAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	GAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	5: 123,253,883		probably benign	Het
Wdr66	GGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	GGAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	5: 123,253,888		probably benign	Het
Wdr66	GAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	GAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGAAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	5: 123,253,889		probably benign	Het
Wnt6	A	T	1: 74,782,821	D187V	probably damaging	Het
Zc3h14	T	C	12: 98,758,861	C261R	probably damaging	Het
Zfp395	C	T	14: 65,385,425	S3F	unknown	Het
Zfp583	T	A	7: 6,316,982	I344F	probably damaging	Het
Zfp599	A	C	9: 22,253,884	V65G	probably benign	Het
Zfp808	T	C	13: 62,171,299	V114A	probably benign	Het
Zfp933	G	A	4: 147,826,441	H233Y	probably damaging	Het
Znrd1as	CACCACCACCACCAC	CACCACCACCACCACCACCACTACCACCACCACCAC	17: 36,965,057		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
R9568:Zfp384	UTSW	6	125024833	missense	possibly damaging	0.70
R9606:Zfp384	UTSW	6	125030839	missense	possibly damaging	0.85
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
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'- AAGAGCCCAGGTTGAGACTTG -3'
(R):5'- ATGCTCTGCCGGCTTATAGG -3'

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

Posted On

2019-12-04