Mutagenetix > Incidental Mutation

Incidental Mutation 'R7320:Zfp384'

568130

Institutional Source

Beutler Lab

Gene Symbol

Zfp384

Ensembl Gene

ENSMUSG00000038346

Gene Name

zinc finger protein 384

Synonyms

C130073D16Rik, Nmp4, Ciz

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125009145-125037870 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125024830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 146 (M146K)

Ref Sequence

ENSEMBL: ENSMUSP00000081296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046064] [ENSMUST00000054553] [ENSMUST00000084275] [ENSMUST00000088308] [ENSMUST00000112424] [ENSMUST00000112425] [ENSMUST00000112427] [ENSMUST00000112428] [ENSMUST00000152752] [ENSMUST00000152752]

AlphaFold

E9Q1A5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046064
AA Change: M146K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037986
Gene: ENSMUSG00000038346
AA Change: M146K

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 null
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

possibly damaging
Transcript: ENSMUST00000084275
AA Change: M146K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081296
Gene: ENSMUSG00000038346
AA Change: M146K

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

possibly damaging
Transcript: ENSMUST00000088308
AA Change: M146K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000085648
Gene: ENSMUSG00000038346
AA Change: M146K

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

possibly damaging
Transcript: ENSMUST00000112424
AA Change: M130K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108043
Gene: ENSMUSG00000038346
AA Change: M130K

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

possibly damaging
Transcript: ENSMUST00000112425
AA Change: M146K

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108044
Gene: ENSMUSG00000038346
AA Change: M146K

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

possibly damaging
Transcript: ENSMUST00000112427
AA Change: M146K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108046
Gene: ENSMUSG00000038346
AA Change: M146K

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

possibly damaging
Transcript: ENSMUST00000112428
AA Change: M146K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108047
Gene: ENSMUSG00000038346
AA Change: M146K

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 null
Transcript: ENSMUST00000152752

Predicted Effect

probably null
Transcript: ENSMUST00000152752

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,464,303	K650*	probably null	Het
Abcc3	A	G	11: 94,367,645	I458T	probably benign	Het
Adam29	A	G	8: 55,872,714	I235T	possibly damaging	Het
AF529169	A	G	9: 89,601,626	S573P	probably benign	Het
Afap1	G	A	5: 35,948,223	V174I	probably damaging	Het
Ak8	A	T	2: 28,812,992	D456V	probably damaging	Het
Alb	T	C	5: 90,464,987		probably null	Het
Alox12	C	T	11: 70,254,472	A92T	probably benign	Het
Arhgap23	T	C	11: 97,451,545	S218P	probably benign	Het
Blm	G	A	7: 80,455,354	Q1389*	probably null	Het
C1ql4	A	T	15: 99,087,724	V2E	unknown	Het
Casp12	A	G	9: 5,348,897		probably null	Het
Ccdc73	A	T	2: 104,999,176	I1065F	possibly damaging	Het
Ccdc83	C	T	7: 90,224,034	G371D	probably damaging	Het
Cfap65	A	G	1: 74,926,604	S416P	probably damaging	Het
Cftr	T	A	6: 18,319,013	C1351S	probably damaging	Het
Clcn4	A	T	7: 7,291,828	H311Q	probably benign	Het
Cldn13	T	G	5: 134,915,020	I104L	probably benign	Het
Cul9	A	G	17: 46,510,909	V1880A	possibly damaging	Het
Ddx17	A	T	15: 79,531,904	D407E	probably damaging	Het
Ddx28	G	A	8: 106,011,325	P34S	probably damaging	Het
Dnah5	A	T	15: 28,270,470	N973Y	probably null	Het
Dock10	A	G	1: 80,549,704		probably null	Het
Dock3	T	C	9: 106,895,524	D510G	probably benign	Het
Dst	T	A	1: 34,191,094	D2589E	probably benign	Het
E2f7	T	C	10: 110,764,130	Y249H	not run	Het
Eef2kmt	T	C	16: 5,250,509	Y69C	possibly damaging	Het
Erlin1	T	C	19: 44,059,065	Y139C	probably damaging	Het
Exog	G	T	9: 119,462,478	V274L	possibly damaging	Het
Fam83e	G	A	7: 45,722,472	V98M	probably benign	Het
Fras1	C	T	5: 96,709,886	T2013I	probably benign	Het
Gart	G	T	16: 91,621,681	A970E	probably benign	Het
Gga2	T	A	7: 122,002,103	H259L	probably benign	Het
Glis3	C	A	19: 28,531,598	V329F	probably damaging	Het
Gm6356	T	A	14: 6,972,923	N53I	probably damaging	Het
Golgb1	C	A	16: 36,915,951	C1894*	probably null	Het
Ifi203	T	C	1: 173,929,167	N350S	unknown	Het
Isy1	T	A	6: 87,833,706	R55S	unknown	Het
Itsn1	A	T	16: 91,839,699	D678V	unknown	Het
Lhcgr	T	A	17: 88,742,078	R673S	probably benign	Het
Lnx2	C	A	5: 147,020,133	R601L	possibly damaging	Het
Map4	A	G	9: 110,081,517	T1093A	probably benign	Het
Mink1	A	G	11: 70,599,073	K92E	probably benign	Het
Moxd1	A	G	10: 24,301,465	I560V	probably benign	Het
Mrc2	C	A	11: 105,329,235	D327E	possibly damaging	Het
Notch2	A	G	3: 98,131,327	E1262G	possibly damaging	Het
Olfr1025-ps1	A	T	2: 85,918,374	I150F	probably benign	Het
Olfr1052	GTACTTTTT	GT	2: 86,297,994		probably null	Het
Olfr123	T	A	17: 37,796,357	N304K	probably benign	Het
Olfr1298	A	G	2: 111,645,952	L15S	probably benign	Het
Olfr1434	G	A	19: 12,283,816	G256D	possibly damaging	Het
Olfr1477	T	A	19: 13,503,180	M279K	possibly damaging	Het
Olfr653	C	A	7: 104,580,438	S264*	probably null	Het
Olfr785	A	T	10: 129,409,785	T140S	possibly damaging	Het
Pcbp2	T	A	15: 102,473,347	V5E	probably damaging	Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Pgghg	A	T	7: 140,943,040	Y104F	probably benign	Het
Plscr2	T	C	9: 92,291,140		probably null	Het
Ppfibp1	C	T	6: 146,978,053	A25V	probably damaging	Het
Ptgfr	C	T	3: 151,835,397	G158D	probably benign	Het
Ptgs2	T	C	1: 150,102,695	F186S	probably damaging	Het
Ptpn14	A	G	1: 189,832,759	E181G	probably benign	Het
Rpgrip1	A	G	14: 52,131,216	K291E	possibly damaging	Het
Rtn4rl1	T	C	11: 75,194,296		probably null	Het
Sema3b	T	A	9: 107,600,942	M415L	probably benign	Het
Sh3bp4	A	G	1: 89,145,494	E688G	probably damaging	Het
Slco6c1	G	A	1: 97,128,162	R5C	possibly damaging	Het
Slmap	A	G	14: 26,460,072	F369L	possibly damaging	Het
Sphk2	T	C	7: 45,712,470	N181S	possibly damaging	Het
Sqor	A	G	2: 122,799,810	T235A	probably benign	Het
St13	A	G	15: 81,389,653	L80P	probably damaging	Het
St3gal6	A	G	16: 58,493,711	Y20H	probably benign	Het
Sun1	T	G	5: 139,248,484	Y899D	probably damaging	Het
Synm	C	T	7: 67,735,380	E845K	possibly damaging	Het
Tg	A	T	15: 66,694,784	D1227V	possibly damaging	Het
Thbs1	A	G	2: 118,114,957	N306D	possibly damaging	Het
Tmcc3	A	T	10: 94,578,495	N51Y	possibly damaging	Het
Usp4	A	G	9: 108,388,306	D856G	probably benign	Het
Vil1	G	A	1: 74,418,444	A79T	probably damaging	Het
Vmn1r119	T	A	7: 21,012,346	H37L	probably damaging	Het
Vmn2r110	A	T	17: 20,596,054	M69K	probably benign	Het
Wdr78	A	T	4: 103,050,187	I634N	possibly damaging	Het
Ywhaq	A	G	12: 21,394,981	L221P	probably damaging	Het
Zfp142	G	A	1: 74,570,008	Q1543*	probably null	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
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
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'- GGATTTCCTGTAGACTGGGC -3'
(R):5'- GGTCATTCATCTCAGGAAGCC -3'

Sequencing Primer
(F):5'- CCTGTAGACTGGGCTGGAG -3'
(R):5'- AGGAAGCCCTGACTCCAG -3'

Posted On

2019-06-26