Incidental Mutation 'R0839:Zfp384'
ID 78102
Institutional Source Beutler Lab
Gene Symbol Zfp384
Ensembl Gene ENSMUSG00000038346
Gene Name zinc finger protein 384
Synonyms Ciz, C130073D16Rik, Nmp4
MMRRC Submission 039018-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R0839 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 124986108-125014833 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 125013631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 550 (D550E)
Ref Sequence ENSEMBL: ENSMUSP00000108043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032480] [ENSMUST00000046064] [ENSMUST00000054553] [ENSMUST00000084275] [ENSMUST00000088308] [ENSMUST00000112417] [ENSMUST00000112424] [ENSMUST00000112427] [ENSMUST00000112425] [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: D536E
SMART Domains Protein: ENSMUSP00000037986
Gene: ENSMUSG00000038346
AA Change: D536E

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: D450E
SMART Domains Protein: ENSMUSP00000086354
Gene: ENSMUSG00000038346
AA Change: D450E

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 unknown
Transcript: ENSMUST00000084275
AA Change: D566E
SMART Domains Protein: ENSMUSP00000081296
Gene: ENSMUSG00000038346
AA Change: D566E

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: ENSMUST00000088308
AA Change: D566E
SMART Domains Protein: ENSMUSP00000085648
Gene: ENSMUSG00000038346
AA Change: D566E

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: D550E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000108043
Gene: ENSMUSG00000038346
AA Change: D550E

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: ENSMUST00000112427
AA Change: D566E
SMART Domains Protein: ENSMUSP00000108046
Gene: ENSMUSG00000038346
AA Change: D566E

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: ENSMUST00000112425
AA Change: D505E
SMART Domains Protein: ENSMUSP00000108044
Gene: ENSMUSG00000038346
AA Change: D505E

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 noncoding transcript
Transcript: ENSMUST00000137325
Predicted Effect unknown
Transcript: ENSMUST00000112428
AA Change: D536E
SMART Domains Protein: ENSMUSP00000108047
Gene: ENSMUSG00000038346
AA Change: D536E

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 noncoding transcript
Transcript: ENSMUST00000145138
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152574
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144308
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151125
SMART Domains Protein: ENSMUSP00000119709
Gene: ENSMUSG00000030330

DomainStartEndE-ValueType
Pfam:ING 5 107 1.4e-34 PFAM
low complexity region 118 131 N/A INTRINSIC
PDB:1WEU|A 167 216 3e-32 PDB
SCOP:d1fp0a1 190 216 2e-3 SMART
Blast:PHD 197 215 1e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140883
SMART Domains Protein: ENSMUSP00000118561
Gene: ENSMUSG00000030330

DomainStartEndE-ValueType
Pfam:ING 5 107 1e-34 PFAM
low complexity region 118 131 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205110
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203287
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 121,920,527 (GRCm39) V1083M probably damaging Het
Aco2 A G 15: 81,791,736 (GRCm39) probably null Het
AI661453 A T 17: 47,747,752 (GRCm39) Q8L probably null Het
Ankrd42 T C 7: 92,261,980 (GRCm39) D295G possibly damaging Het
Ccdc73 A T 2: 104,821,442 (GRCm39) I464L probably benign Het
Cdc5l A C 17: 45,704,073 (GRCm39) M717R probably benign Het
Col4a1 G A 8: 11,271,015 (GRCm39) P809S probably damaging Het
Dctn1 T C 6: 83,167,459 (GRCm39) M358T possibly damaging Het
Dgkz A G 2: 91,765,456 (GRCm39) S799P probably benign Het
Dna2 T C 10: 62,805,561 (GRCm39) C933R probably damaging Het
Dock6 T C 9: 21,729,188 (GRCm39) N1275S probably benign Het
Ect2l A G 10: 18,017,652 (GRCm39) I659T probably benign Het
Ets1 T A 9: 32,645,357 (GRCm39) Y201* probably null Het
Gle1 T A 2: 29,848,462 (GRCm39) C679S probably benign Het
Gm10118 T G 10: 63,762,643 (GRCm39) probably benign Het
Guk1 G A 11: 59,075,921 (GRCm39) R146C probably damaging Het
H2-Q7 A G 17: 35,658,688 (GRCm39) S109G probably damaging Het
Igfn1 A G 1: 135,882,418 (GRCm39) V2809A probably damaging Het
Izumo1 T A 7: 45,276,536 (GRCm39) D366E probably benign Het
Kctd20 A T 17: 29,176,872 (GRCm39) M1L possibly damaging Het
Lct C T 1: 128,214,346 (GRCm39) A1809T probably benign Het
Manea T C 4: 26,327,983 (GRCm39) I353V probably damaging Het
Mybl2 T C 2: 162,917,688 (GRCm39) Y65H probably benign Het
Myh11 C T 16: 14,021,042 (GRCm39) E1744K probably damaging Het
Neb T C 2: 52,167,560 (GRCm39) D1922G probably damaging Het
Nepro C A 16: 44,556,382 (GRCm39) D513E probably benign Het
Nnt A T 13: 119,531,192 (GRCm39) I185K possibly damaging Het
Npat A T 9: 53,456,480 (GRCm39) Q17L probably damaging Het
Nup155 A G 15: 8,175,071 (GRCm39) E956G possibly damaging Het
Or1e35 T A 11: 73,798,138 (GRCm39) Y60F probably damaging Het
Or1x6 A G 11: 50,939,254 (GRCm39) I107V probably benign Het
Or2a14 T A 6: 43,130,558 (GRCm39) F106L probably benign Het
Or4q3 A G 14: 50,583,545 (GRCm39) V118A probably damaging Het
Or8g18 A T 9: 39,149,146 (GRCm39) N191K possibly damaging Het
Or8g4 A T 9: 39,661,687 (GRCm39) I2L probably benign Het
Or9e1 G A 11: 58,732,478 (GRCm39) M179I probably benign Het
Pah T C 10: 87,357,924 (GRCm39) S16P probably damaging Het
Pcdh15 C A 10: 74,462,614 (GRCm39) P1365Q probably null Het
Pds5b G T 5: 150,688,427 (GRCm39) V640F probably benign Het
Pgam5 A T 5: 110,414,996 (GRCm39) H72Q probably benign Het
Plagl2 C A 2: 153,074,461 (GRCm39) A147S probably damaging Het
Ppfia4 A T 1: 134,256,545 (GRCm39) L113Q probably null Het
Ppp1r12a T C 10: 108,034,722 (GRCm39) V89A probably damaging Het
Ptprc A G 1: 138,028,870 (GRCm39) Y443H possibly damaging Het
Ralgapb T C 2: 158,315,203 (GRCm39) probably null Het
Rgsl1 A G 1: 153,677,980 (GRCm39) probably null Het
Rubcn A C 16: 32,647,713 (GRCm39) I681M probably damaging Het
Scaf11 A G 15: 96,321,434 (GRCm39) L169S probably damaging Het
Scgb1b27 A G 7: 33,721,276 (GRCm39) K55E probably benign Het
Sos1 A T 17: 80,741,159 (GRCm39) I542N probably damaging Het
Syf2 T A 4: 134,663,374 (GRCm39) V182D probably damaging Het
Tapbp T C 17: 34,144,717 (GRCm39) V271A probably benign Het
Tmem33 T A 5: 67,421,651 (GRCm39) L60Q probably damaging Het
Tmf1 A G 6: 97,153,284 (GRCm39) V263A probably damaging Het
Vps13c T C 9: 67,806,020 (GRCm39) V798A probably benign 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
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
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'- TTCAACAGCAAGTGCAAGCAGCGG -3'
(R):5'- TGCGAAGAAAAGCCATGCCTGAGAC -3'

Sequencing Primer
(F):5'- ggctcaggcccaagctc -3'
(R):5'- CATGCCTGAGACCCAAGGAG -3'
Posted On 2013-10-16