Mutagenetix > Incidental Mutation

Incidental Mutation 'R9606:Zfp384'

723871

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: 0.211) question?

Stock #

R9606 (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 125030839 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 244 (M244K)

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

possibly damaging
Transcript: ENSMUST00000046064
AA Change: M275K

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037986
Gene: ENSMUSG00000038346
AA Change: M275K

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: M189K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086354
Gene: ENSMUSG00000038346
AA Change: M189K

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: M244K

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000081296
Gene: ENSMUSG00000038346
AA Change: M244K

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: M244K

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000085648
Gene: ENSMUSG00000038346
AA Change: M244K

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: M228K

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108043
Gene: ENSMUSG00000038346
AA Change: M228K

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
AA Change: M244K

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108044
Gene: ENSMUSG00000038346
AA Change: M244K

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: M244K

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108046
Gene: ENSMUSG00000038346
AA Change: M244K

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: M275K

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108047
Gene: ENSMUSG00000038346
AA Change: M275K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,153,967	Y286C	probably damaging	Het
A530032D15Rik	G	C	1: 85,097,623		probably null	Het
Cacna1c	T	C	6: 118,610,494	T1657A		Het
Ccs	A	T	19: 4,832,869	D151E	probably benign	Het
Cfap74	A	G	4: 155,424,676	T295A		Het
Chmp4c	A	T	3: 10,367,162	E44V	probably damaging	Het
Crybg2	A	T	4: 134,074,072	K539*	probably null	Het
Dgkg	T	C	16: 22,622,261	M1V	probably null	Het
E2f2	T	A	4: 136,184,432	Y251*	probably null	Het
Fat2	T	C	11: 55,289,267	Y1416C	probably damaging	Het
Fgl2	T	C	5: 21,372,993	S93P	possibly damaging	Het
Hivep3	C	T	4: 120,132,589	T2079I	probably damaging	Het
Igfl3	A	C	7: 18,179,995	K90T	possibly damaging	Het
Lsamp	A	G	16: 41,888,929	D74G	probably benign	Het
Mmrn2	C	A	14: 34,397,697	T211K	possibly damaging	Het
Mov10	A	T	3: 104,800,348	V570D	probably benign	Het
Mrc1	A	T	2: 14,308,706	Y916F	probably benign	Het
Myo10	CAGGTATAAAG	CAG	15: 25,776,315		probably null	Het
Ndc1	T	A	4: 107,389,489	C370S	probably damaging	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,050,416		probably null	Het
Nrcam	A	T	12: 44,562,457	N455I	probably damaging	Het
Nrp1	G	A	8: 128,502,548	E836K	probably benign	Het
Olfr1477	A	T	19: 13,502,579	K79*	probably null	Het
Olfr329-ps	C	T	11: 58,542,927	C196Y	probably damaging	Het
Olfr812	A	T	10: 129,842,756	C95*	probably null	Het
Olfr915	A	G	9: 38,647,324	S67P	probably damaging	Het
Pcca	T	C	14: 122,664,305	S287P	probably damaging	Het
Pitpnm3	T	A	11: 72,064,243	T482S	probably benign	Het
Pld2	C	T	11: 70,555,067	R676*	probably null	Het
Ppm1k	T	C	6: 57,514,072	Y286C	possibly damaging	Het
Rb1	T	C	14: 73,280,133	N278D	probably damaging	Het
Sema3g	T	C	14: 31,221,826	L221P	probably damaging	Het
Skint2	C	T	4: 112,625,950	T184I	probably benign	Het
Slc38a2	A	G	15: 96,693,291	F232S	probably damaging	Het
Snx6	T	C	12: 54,768,026	N170S	probably benign	Het
Sox9	T	A	11: 112,782,590	N2K	probably damaging	Het
Srpk2	T	C	5: 23,524,606	E345G	probably benign	Het
Tbc1d21	T	C	9: 58,361,204	M291V	possibly damaging	Het
Tekt2	T	C	4: 126,324,900	N20S	probably benign	Het
Tnxb	T	G	17: 34,695,604	I1888S	possibly damaging	Het
Tsnaxip1	G	A	8: 105,840,053	E174K	probably damaging	Het
Ttc28	G	A	5: 111,285,274	R2058Q	probably benign	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Ttyh2	T	A	11: 114,710,841	D430E	probably benign	Het
Ubr2	C	T	17: 46,934,094	G1669R	probably damaging	Het
Vcan	A	T	13: 89,705,372	S490T	probably damaging	Het
Vmn1r86	T	A	7: 13,102,814	D45V	probably damaging	Het
Wdr12	A	G	1: 60,088,067	V143A	possibly damaging	Het
Zbtb18	T	A	1: 177,447,423	Y116*	probably null	Het
Zdbf2	C	T	1: 63,303,377	T305I	possibly damaging	Het
Zfp423	A	T	8: 87,687,967	V1241D	probably damaging	Het
Zfp574	A	G	7: 25,081,215	Y554C	probably damaging	Het
Zfp616	T	C	11: 74,085,394	S830P	probably damaging	Het
Zfp839	A	G	12: 110,868,342	Y677C	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
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'- AGAAAGTTTCTAGAGCTTCCCCG -3'
(R):5'- TGCTGCAGATGTGAGAGCTG -3'

Sequencing Primer
(F):5'- AAAGTTTCTAGAGCTTCCCCGTGTAG -3'
(R):5'- CTGGCGGAAGGATTTCTCACAG -3'

Posted On

2022-09-12