Incidental Mutation 'RF020:Zfp384'
ID 603800
Institutional Source Beutler Lab
Gene Symbol Zfp384
Ensembl Gene ENSMUSG00000038346
Gene Name zinc finger protein 384
Synonyms Ciz, C130073D16Rik, Nmp4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # RF020 (G1)
Quality Score 117.467
Status Not validated
Chromosome 6
Chromosomal Location 124986108-125014833 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) CCAAGCTCAAGC to CCAAGC at 125013418 bp (GRCm39)
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

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 probably benign
Transcript: ENSMUST00000046064
SMART Domains Protein: ENSMUSP00000037986
Gene: ENSMUSG00000038346

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: ENSMUST00000054553
SMART Domains Protein: ENSMUSP00000086354
Gene: ENSMUSG00000038346

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 probably benign
Transcript: ENSMUST00000084275
SMART Domains Protein: ENSMUSP00000081296
Gene: ENSMUSG00000038346

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
SMART Domains Protein: ENSMUSP00000085648
Gene: ENSMUSG00000038346

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
SMART Domains Protein: ENSMUSP00000108043
Gene: ENSMUSG00000038346

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 probably benign
Transcript: ENSMUST00000112425
SMART Domains Protein: ENSMUSP00000108044
Gene: ENSMUSG00000038346

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
SMART Domains Protein: ENSMUSP00000108046
Gene: ENSMUSG00000038346

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: ENSMUST00000112428
SMART Domains Protein: ENSMUSP00000108047
Gene: ENSMUSG00000038346

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,132,880 (GRCm39) K1270E possibly damaging Het
Adgrb2 T C 4: 129,903,877 (GRCm39) S668P probably damaging Het
Ahdc1 T G 4: 132,791,588 (GRCm39) L943R possibly damaging Het
Ank2 T C 3: 126,739,125 (GRCm39) K2253R unknown Het
Arhgap23 T C 11: 97,354,387 (GRCm39) S767P probably damaging Het
Arhgef12 A G 9: 42,901,285 (GRCm39) I839T possibly damaging Het
Begain CGCCGC CGCCGCGGCCGC 12: 108,999,350 (GRCm39) probably benign Het
Btbd19 A T 4: 116,979,472 (GRCm39) C116S probably damaging Het
Cbr1 C T 16: 93,407,067 (GRCm39) A261V probably benign Het
Ccdc137 A G 11: 120,349,022 (GRCm39) R18G probably benign Het
Cdsn AG AGACAGGAAGTAGTAGCTCTCAG 17: 35,865,876 (GRCm39) probably benign Het
Celsr3 C T 9: 108,726,256 (GRCm39) R3162C probably benign Het
Cep350 A T 1: 155,791,224 (GRCm39) V1300E probably benign Het
Cluh G GCCAGAT 11: 74,560,364 (GRCm39) probably benign Het
Cmya5 G T 13: 93,205,799 (GRCm39) Q3357K possibly damaging Het
Col6a2 T G 10: 76,442,043 (GRCm39) probably null Het
Cyp2j9 T A 4: 96,465,889 (GRCm39) T315S probably damaging Het
Cyp3a13 CATTATT CATT 5: 137,892,525 (GRCm39) probably null Het
Dnah6 T A 6: 73,095,040 (GRCm39) Y2181F probably benign Het
Dnah7b A G 1: 46,412,421 (GRCm39) D4010G possibly damaging Het
E4f1 CCG CCGACG 17: 24,674,169 (GRCm39) probably benign Het
Ep300 A T 15: 81,470,772 (GRCm39) probably benign Het
Fam234a A G 17: 26,437,725 (GRCm39) V90A probably benign Het
Gab3 TCT TCTGCT X: 74,043,623 (GRCm39) probably benign Het
Gal3st1 A G 11: 3,948,153 (GRCm39) Y120C possibly damaging Het
Garin5a GGA GGAAGGGTGGATCCTGGATACCTGGGTCTGAGGGAAGA 7: 44,149,959 (GRCm39) probably null Het
Gm5475 GTGGAAGGAAAGGT G 15: 100,325,030 (GRCm39) probably null Het
Gm6665 T TC 18: 31,953,430 (GRCm39) probably null Het
Hdlbp T C 1: 93,368,456 (GRCm39) T8A probably benign Het
Hnrnpa2b1 T A 6: 51,443,674 (GRCm39) K92N probably damaging Het
Hsdl2 GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC 4: 59,610,640 (GRCm39) probably benign Het
Klhl10 C G 11: 100,332,896 (GRCm39) Q14E probably benign Het
Klra2 GAAAGAAATCCA GAAAGAAATCCAAAGAAATCCA 6: 131,198,801 (GRCm39) probably null Het
Kmt2b CC CCTCCTGC 7: 30,285,807 (GRCm39) probably benign Het
Krt1c A G 15: 101,726,403 (GRCm39) I45T unknown Het
Ksr2 T C 5: 117,693,283 (GRCm39) S244P probably benign Het
Lama5 A T 2: 179,837,971 (GRCm39) M915K probably benign Het
Lrp1b A C 2: 41,660,858 (GRCm39) H197Q Het
Lrrc1 T C 9: 77,359,913 (GRCm39) E293G probably damaging Het
Med12l AACA AACAACA 3: 59,183,379 (GRCm39) probably benign Het
Mgam T A 6: 40,662,243 (GRCm39) Y1179N probably damaging Het
Mgat4c A G 10: 102,224,928 (GRCm39) I381V probably benign Het
Mrgprx1 A AGAC 7: 47,671,259 (GRCm39) probably benign Het
Myc A T 15: 61,857,672 (GRCm39) probably benign Het
Nipbl A G 15: 8,388,418 (GRCm39) S401P probably damaging Het
Nlrp9c A T 7: 26,084,649 (GRCm39) I310N probably benign Het
Nwd2 C A 5: 63,963,066 (GRCm39) Y883* probably null Het
Oas1e T A 5: 120,932,383 (GRCm39) T87S possibly damaging Het
Or10n7-ps1 GA GATACA 9: 39,598,049 (GRCm39) probably null Het
Or51a5 A T 7: 102,771,098 (GRCm39) C294S probably benign Het
Or52d3 A G 7: 104,229,497 (GRCm39) M215V probably benign Het
Or8b38 G A 9: 37,972,620 (GRCm39) M1I probably null Het
Pappa T G 4: 65,123,282 (GRCm39) S872R possibly damaging Het
Parp4 T C 14: 56,884,806 (GRCm39) L1295P unknown Het
Pcdh15 A T 10: 74,021,242 (GRCm39) Y152F probably damaging Het
Pdk1 A T 2: 71,714,240 (GRCm39) I217L possibly damaging Het
Phldb1 A C 9: 44,609,243 (GRCm39) C450W probably damaging Het
Pnma8a C CCATGATGCACCTGCTTCAACATCA 7: 16,695,376 (GRCm39) probably benign Het
Prl2c5 G A 13: 13,360,497 (GRCm39) G55S probably benign Het
Psme2b A T 11: 48,836,397 (GRCm39) H183Q probably damaging Het
Ptms CCTCCTC CCTCCTCCTC 6: 124,891,412 (GRCm39) probably benign Het
Rln3 T C 8: 84,769,931 (GRCm39) T73A probably benign Het
Rprd1a T A 18: 24,663,062 (GRCm39) Q21L probably damaging Het
Septin3 A T 15: 82,168,662 (GRCm39) D155V probably damaging Het
Sh3rf3 T A 10: 58,649,590 (GRCm39) V65E probably damaging Het
Shank3 A G 15: 89,384,593 (GRCm39) N155S probably benign Het
Shox2 G T 3: 66,881,146 (GRCm39) P278Q probably damaging Het
Slc1a1 T C 19: 28,856,555 (GRCm39) probably null Het
Slc39a10 A T 1: 46,849,175 (GRCm39) F814I probably damaging Het
Slc5a1 T C 5: 33,290,773 (GRCm39) I119T probably damaging Het
Slc6a13 T C 6: 121,301,310 (GRCm39) probably null Het
Spmap2l CAGCGATCCTCCCCAGTCCCGCAAGGC CAGCGATCCTCCCCAGTCCCGCAAGGCGAGCGATCCTCCCCAGTCCCGCAAGGC 5: 77,164,247 (GRCm39) probably benign Het
Spta1 A G 1: 174,041,010 (GRCm39) D1270G probably benign Het
Spta1 T A 1: 174,045,469 (GRCm39) F1542L probably damaging Het
Tacc3 T A 5: 33,818,568 (GRCm39) M1K probably null Het
Tax1bp1 T C 6: 52,698,339 (GRCm39) V17A probably damaging Het
Tmem156 T A 5: 65,248,890 (GRCm39) E3D probably benign Het
Tmem209 T A 6: 30,487,417 (GRCm39) M530L probably benign Het
Trpc2 A G 7: 101,745,433 (GRCm39) D883G unknown Het
Tsen34 GGAGCCAAAAT G 7: 3,698,795 (GRCm39) probably null Het
Uhrf2 T C 19: 30,063,791 (GRCm39) Y585H probably damaging Het
Vmn1r26 T A 6: 57,985,705 (GRCm39) K161N probably benign Het
Vmn1r29 A G 6: 58,284,528 (GRCm39) S83G probably benign Het
Vps13b G T 15: 35,925,552 (GRCm39) W3829L probably null Het
Vwce G A 19: 10,630,449 (GRCm39) G503R probably damaging Het
Zc3h11a T C 1: 133,554,735 (GRCm39) E415G possibly damaging Het
Zc3h14 T A 12: 98,746,541 (GRCm39) probably null Het
Zfp119b A T 17: 56,246,499 (GRCm39) M229K probably benign Het
Zyx T A 6: 42,334,330 (GRCm39) L518Q probably damaging 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
R9021:Zfp384 UTSW 6 125,013,336 (GRCm39) missense
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
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'- CCAGGTTGAGACTTGCAGGTTG -3'
(R):5'- ATGCTCTGCCGGCTTATAGG -3'

Sequencing Primer
(F):5'- GAGACTTGCAGGTTGTCTTTTTCCC -3'
(R):5'- CCGGCTTATAGGGGGTCAAGTC -3'
Posted On 2019-12-04