Incidental Mutation 'R9021:Zfp384'
ID 686202
Institutional Source Beutler Lab
Gene Symbol Zfp384
Ensembl Gene ENSMUSG00000038346
Gene Name zinc finger protein 384
Synonyms Ciz, C130073D16Rik, Nmp4
MMRRC Submission 068851-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R9021 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 124986108-125014833 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 125013336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 468 (A468E)
Ref Sequence ENSEMBL: ENSMUSP00000081296 (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

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000046064
AA Change: A438E
SMART Domains Protein: ENSMUSP00000037986
Gene: ENSMUSG00000038346
AA Change: A438E

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000054553
AA Change: A352E
SMART Domains Protein: ENSMUSP00000086354
Gene: ENSMUSG00000038346
AA Change: A352E

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000081296
Gene: ENSMUSG00000038346
AA Change: A468E

DomainStartEndE-ValueType
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
AA Change: A468E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000085648
Gene: ENSMUSG00000038346
AA Change: A468E

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:ING 5 107 6.5e-35 PFAM
low complexity region 118 126 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112424
AA Change: A452E

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108043
Gene: ENSMUSG00000038346
AA Change: A452E

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000112425
AA Change: A407E
SMART Domains Protein: ENSMUSP00000108044
Gene: ENSMUSG00000038346
AA Change: A407E

DomainStartEndE-ValueType
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
AA Change: A468E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000108046
Gene: ENSMUSG00000038346
AA Change: A468E

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000112428
AA Change: A438E
SMART Domains Protein: ENSMUSP00000108047
Gene: ENSMUSG00000038346
AA Change: A438E

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 98% (64/65)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,003,864 (GRCm39) D770G possibly damaging Het
Amph G A 13: 19,284,071 (GRCm39) G200D probably benign Het
Asap2 T A 12: 21,253,999 (GRCm39) L170H possibly damaging Het
Asap3 T C 4: 135,966,299 (GRCm39) probably null Het
Atxn2l A T 7: 126,094,712 (GRCm39) M595K probably benign Het
Bltp1 T A 3: 37,052,493 (GRCm39) D3064E probably benign Het
Ccnf A T 17: 24,445,679 (GRCm39) Y522* probably null Het
Ceacam5 A T 7: 17,448,877 (GRCm39) Y81F possibly damaging Het
Chd2 A T 7: 73,091,393 (GRCm39) M1616K probably benign Het
Clint1 T A 11: 45,797,042 (GRCm39) S374R probably benign Het
Col6a6 A T 9: 105,586,745 (GRCm39) F1759I possibly damaging Het
Crocc T A 4: 140,749,674 (GRCm39) I1487F probably benign Het
Dll4 TC T 2: 119,163,054 (GRCm39) probably null Het
Dop1a T C 9: 86,402,490 (GRCm39) I1230T probably benign Het
Dsp A T 13: 38,380,808 (GRCm39) I2518L possibly damaging Het
Eps8l2 G T 7: 140,936,117 (GRCm39) V224L possibly damaging Het
Etv1 T C 12: 38,830,971 (GRCm39) V13A probably benign Het
Fam78a T C 2: 31,959,313 (GRCm39) M266V probably benign Het
Fam81a A G 9: 70,017,538 (GRCm39) probably null Het
Fhad1 T C 4: 141,709,620 (GRCm39) I245V probably damaging Het
Flot2 T C 11: 77,949,805 (GRCm39) V378A probably benign Het
Fras1 T A 5: 96,888,609 (GRCm39) S2718R probably damaging Het
Gata3os T A 2: 9,887,345 (GRCm39) probably benign Het
Gm14305 A G 2: 176,413,167 (GRCm39) K353R possibly damaging Het
Inppl1 A C 7: 101,480,915 (GRCm39) V315G probably damaging Het
Kbtbd6 A T 14: 79,690,822 (GRCm39) I506F probably damaging Het
Klf6 G C 13: 5,915,160 (GRCm39) G200R probably benign Het
Lrp6 A G 6: 134,518,930 (GRCm39) I45T probably benign Het
Lrriq4 T G 3: 30,704,401 (GRCm39) V143G probably benign Het
Map2k2 G T 10: 80,955,159 (GRCm39) G217C probably damaging Het
Mcm10 T C 2: 4,997,782 (GRCm39) N813S probably benign Het
Mfng T A 15: 78,657,348 (GRCm39) N42I probably benign Het
Mical1 A G 10: 41,361,141 (GRCm39) D808G probably benign Het
Mmp14 T C 14: 54,673,632 (GRCm39) F99L probably benign Het
Mroh8 A T 2: 157,064,787 (GRCm39) V763E probably benign Het
Mycbp2 G T 14: 103,551,752 (GRCm39) P193T probably benign Het
Myo1b T C 1: 51,821,142 (GRCm39) D447G possibly damaging Het
Myoz2 T A 3: 122,807,284 (GRCm39) probably benign Het
Narf C A 11: 121,136,209 (GRCm39) P195Q probably damaging Het
Nfatc3 T A 8: 106,818,745 (GRCm39) F496I probably damaging Het
Nudt13 A G 14: 20,360,772 (GRCm39) Y225C probably damaging Het
Or10ab5 A T 7: 108,245,428 (GRCm39) Y118* probably null Het
Or11h4 T G 14: 50,974,554 (GRCm39) I22L probably benign Het
Or2i1 G T 17: 37,508,380 (GRCm39) R85S possibly damaging Het
Or56b1 C T 7: 104,285,291 (GRCm39) R137C probably benign Het
Osbpl10 C T 9: 114,807,939 (GRCm39) A65V unknown Het
Pdcd2l A G 7: 33,885,760 (GRCm39) L308P probably damaging Het
Pitx2 T A 3: 129,008,432 (GRCm39) probably null Het
Pms2 T A 5: 143,862,744 (GRCm39) F617Y probably damaging Het
Poc1b A G 10: 98,980,183 (GRCm39) N180S possibly damaging Het
Poln T A 5: 34,286,485 (GRCm39) M228L probably benign Het
Prex1 C A 2: 166,432,429 (GRCm39) V707F possibly damaging Het
Rasal2 A T 1: 157,058,514 (GRCm39) V12D unknown Het
Ripk1 A G 13: 34,205,373 (GRCm39) E284G probably benign Het
Rpa2 T C 4: 132,499,251 (GRCm39) W107R probably damaging Het
Selp A G 1: 163,954,177 (GRCm39) Y159C probably damaging Het
Serpina1a A T 12: 103,824,293 (GRCm39) W30R probably benign Het
Skic2 A G 17: 35,065,579 (GRCm39) V325A probably damaging Het
Slco6d1 A G 1: 98,371,396 (GRCm39) R294G probably benign Het
Supt5 A T 7: 28,016,671 (GRCm39) I737N probably damaging Het
Thap11 T C 8: 106,582,660 (GRCm39) V223A probably damaging Het
Trabd T A 15: 88,968,913 (GRCm39) S144T possibly damaging Het
Trim24 T A 6: 37,933,949 (GRCm39) S701T probably damaging Het
Trim52 C T 14: 106,344,986 (GRCm39) P215S possibly damaging Het
Vmn1r172 G T 7: 23,359,749 (GRCm39) L211F probably damaging Het
Vmn2r86 A C 10: 130,282,934 (GRCm39) Y561D probably damaging Het
Zfp658 A G 7: 43,223,381 (GRCm39) H552R possibly damaging Het
Zranb2 T C 3: 157,250,720 (GRCm39) V297A unknown Het
Other mutations in Zfp384
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Zfp384 APN 6 125,002,016 (GRCm39) missense probably benign 0.03
IGL01568:Zfp384 APN 6 125,001,095 (GRCm39) missense probably damaging 1.00
IGL01632:Zfp384 APN 6 125,001,724 (GRCm39) missense probably damaging 1.00
IGL03408:Zfp384 APN 6 125,012,676 (GRCm39) missense probably damaging 1.00
FR4304:Zfp384 UTSW 6 125,013,456 (GRCm39) unclassified probably benign
FR4340:Zfp384 UTSW 6 125,013,426 (GRCm39) unclassified probably benign
R0839:Zfp384 UTSW 6 125,013,631 (GRCm39) missense probably benign 0.01
R1370:Zfp384 UTSW 6 125,013,416 (GRCm39) missense probably benign 0.04
R1427:Zfp384 UTSW 6 125,001,847 (GRCm39) missense probably damaging 1.00
R2441:Zfp384 UTSW 6 125,013,612 (GRCm39) missense probably benign 0.01
R2986:Zfp384 UTSW 6 125,001,859 (GRCm39) missense possibly damaging 0.78
R4003:Zfp384 UTSW 6 125,010,200 (GRCm39) splice site probably benign
R4833:Zfp384 UTSW 6 125,007,811 (GRCm39) missense probably damaging 1.00
R4860:Zfp384 UTSW 6 125,007,893 (GRCm39) synonymous silent
R5084:Zfp384 UTSW 6 125,000,642 (GRCm39) splice site probably benign
R5137:Zfp384 UTSW 6 125,013,472 (GRCm39) unclassified probably benign
R5449:Zfp384 UTSW 6 125,001,101 (GRCm39) missense probably damaging 1.00
R5558:Zfp384 UTSW 6 125,013,472 (GRCm39) unclassified probably benign
R5720:Zfp384 UTSW 6 125,013,587 (GRCm39) missense probably benign 0.19
R5849:Zfp384 UTSW 6 125,001,062 (GRCm39) missense possibly damaging 0.91
R5961:Zfp384 UTSW 6 125,000,997 (GRCm39) missense probably damaging 1.00
R6165:Zfp384 UTSW 6 125,001,896 (GRCm39) splice site probably null
R6948:Zfp384 UTSW 6 125,001,873 (GRCm39) missense probably benign 0.08
R7106:Zfp384 UTSW 6 125,001,222 (GRCm39) missense probably benign 0.23
R7192:Zfp384 UTSW 6 125,010,275 (GRCm39) missense probably damaging 1.00
R7320:Zfp384 UTSW 6 125,001,793 (GRCm39) missense possibly damaging 0.92
R7730:Zfp384 UTSW 6 125,008,635 (GRCm39) missense probably benign 0.02
R7861:Zfp384 UTSW 6 125,013,288 (GRCm39) missense probably damaging 1.00
R8080:Zfp384 UTSW 6 125,013,521 (GRCm39) missense unknown
R9568:Zfp384 UTSW 6 125,001,796 (GRCm39) missense possibly damaging 0.70
R9606:Zfp384 UTSW 6 125,007,802 (GRCm39) missense possibly damaging 0.85
RF002:Zfp384 UTSW 6 125,013,434 (GRCm39) unclassified probably benign
RF003:Zfp384 UTSW 6 125,013,446 (GRCm39) unclassified probably benign
RF003:Zfp384 UTSW 6 125,013,439 (GRCm39) unclassified probably benign
RF003:Zfp384 UTSW 6 125,013,434 (GRCm39) unclassified probably benign
RF010:Zfp384 UTSW 6 125,013,451 (GRCm39) unclassified probably benign
RF010:Zfp384 UTSW 6 125,013,434 (GRCm39) unclassified probably benign
RF011:Zfp384 UTSW 6 125,013,439 (GRCm39) unclassified probably benign
RF014:Zfp384 UTSW 6 125,013,429 (GRCm39) unclassified probably benign
RF015:Zfp384 UTSW 6 125,013,444 (GRCm39) unclassified probably benign
RF018:Zfp384 UTSW 6 125,013,452 (GRCm39) unclassified probably benign
RF020:Zfp384 UTSW 6 125,013,451 (GRCm39) unclassified probably benign
RF020:Zfp384 UTSW 6 125,013,418 (GRCm39) unclassified probably benign
RF022:Zfp384 UTSW 6 125,013,434 (GRCm39) unclassified probably benign
RF024:Zfp384 UTSW 6 125,013,452 (GRCm39) unclassified probably benign
RF026:Zfp384 UTSW 6 125,013,455 (GRCm39) unclassified probably benign
RF027:Zfp384 UTSW 6 125,013,453 (GRCm39) unclassified probably benign
RF030:Zfp384 UTSW 6 125,013,446 (GRCm39) unclassified probably benign
RF056:Zfp384 UTSW 6 125,013,453 (GRCm39) unclassified probably benign
RF057:Zfp384 UTSW 6 125,013,459 (GRCm39) unclassified probably benign
RF062:Zfp384 UTSW 6 125,013,429 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TCCGCCGTGACTTCTAAAGG -3'
(R):5'- ATGCTCTGCCGGCTTATAGG -3'

Sequencing Primer
(F):5'- CGCCGTGACTTCTAAAGGTTCTG -3'
(R):5'- CCGGCTTATAGGGGGTCAAGTC -3'
Posted On 2021-10-11