Incidental Mutation 'R8080:Zfp384'
ID 629278
Institutional Source Beutler Lab
Gene Symbol Zfp384
Ensembl Gene ENSMUSG00000038346
Gene Name zinc finger protein 384
Synonyms Ciz, C130073D16Rik, Nmp4
MMRRC Submission 067513-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R8080 (G1)
Quality Score 136.008
Status Validated
Chromosome 6
Chromosomal Location 124986108-125014833 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125013521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 530 (S530P)
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: S500P
SMART Domains Protein: ENSMUSP00000037986
Gene: ENSMUSG00000038346
AA Change: S500P

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: S414P
SMART Domains Protein: ENSMUSP00000086354
Gene: ENSMUSG00000038346
AA Change: S414P

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: S530P
SMART Domains Protein: ENSMUSP00000081296
Gene: ENSMUSG00000038346
AA Change: S530P

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: S530P
SMART Domains Protein: ENSMUSP00000085648
Gene: ENSMUSG00000038346
AA Change: S530P

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: S514P

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108043
Gene: ENSMUSG00000038346
AA Change: S514P

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: S469P
SMART Domains Protein: ENSMUSP00000108044
Gene: ENSMUSG00000038346
AA Change: S469P

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 unknown
Transcript: ENSMUST00000112427
AA Change: S530P
SMART Domains Protein: ENSMUSP00000108046
Gene: ENSMUSG00000038346
AA Change: S530P

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: S500P
SMART Domains Protein: ENSMUSP00000108047
Gene: ENSMUSG00000038346
AA Change: S500P

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
Meta Mutation Damage Score 0.0620 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 94.9%
Validation Efficiency 100% (64/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aloxe3 A G 11: 69,023,900 (GRCm39) Q277R probably damaging Het
Anapc5 T C 5: 122,945,401 (GRCm39) N226D probably damaging Het
Arb2a T A 13: 78,154,565 (GRCm39) L316Q probably damaging Het
Bcl2l11 T C 2: 127,970,586 (GRCm39) C12R probably damaging Het
Bpnt1 A G 1: 185,084,406 (GRCm39) T168A probably damaging Het
Brca2 A T 5: 150,463,357 (GRCm39) E1040D probably benign Het
Cdca2 G A 14: 67,915,004 (GRCm39) Q752* probably null Het
Cntn2 T C 1: 132,449,536 (GRCm39) D635G probably damaging Het
Cntnap5b A T 1: 99,999,928 (GRCm39) I229F probably benign Het
Ctr9 G A 7: 110,650,774 (GRCm39) E900K possibly damaging Het
Dmbt1 A G 7: 130,690,500 (GRCm39) Y911C unknown Het
Egflam T A 15: 7,427,561 (GRCm39) D2V probably benign Het
Enpep A T 3: 129,092,783 (GRCm39) N505K probably damaging Het
Fam13a A G 6: 58,933,790 (GRCm39) S267P probably damaging Het
Fancc G T 13: 63,550,837 (GRCm39) T12K Het
Fbxo3 A G 2: 103,864,012 (GRCm39) Y89C probably damaging Het
Garem2 A G 5: 30,313,385 (GRCm39) Y83C probably damaging Het
Gm17079 T C 14: 51,930,480 (GRCm39) T122A Het
Gm3696 A T 14: 18,435,071 (GRCm39) L71* probably null Het
Gm4559 C T 7: 141,827,553 (GRCm39) R183K unknown Het
Gmip A T 8: 70,268,736 (GRCm39) T454S possibly damaging Het
Helz2 T A 2: 180,880,055 (GRCm39) T554S probably damaging Het
Hoxc9 C T 15: 102,890,551 (GRCm39) T156M probably benign Het
Hrc A G 7: 44,986,262 (GRCm39) E471G probably damaging Het
Hydin A G 8: 111,261,863 (GRCm39) I2655V probably benign Het
Ighv1-64 T C 12: 115,471,463 (GRCm39) H18R probably benign Het
Jcad A G 18: 4,649,270 (GRCm39) Y47C probably benign Het
Jmjd4 A G 11: 59,341,179 (GRCm39) T37A probably benign Het
Kalrn C T 16: 33,796,038 (GRCm39) G2915S possibly damaging Het
Kdm5d T C Y: 910,742 (GRCm39) F285L probably benign Het
Lmna A G 3: 88,393,868 (GRCm39) F237L probably damaging Het
Med12l A G 3: 59,172,607 (GRCm39) K1788E probably damaging Het
Mrgprb1 T C 7: 48,096,658 (GRCm39) probably null Het
Myh1 T A 11: 67,102,228 (GRCm39) Y840N probably benign Het
Negr1 C A 3: 156,866,357 (GRCm39) A302E probably damaging Het
Nup188 T C 2: 30,227,045 (GRCm39) V1206A possibly damaging Het
Nup205 T C 6: 35,204,311 (GRCm39) L1399P probably damaging Het
Or13a20 T C 7: 140,232,387 (GRCm39) M165T probably benign Het
Or4a81 T A 2: 89,618,971 (GRCm39) I242F possibly damaging Het
Or5v1b G A 17: 37,841,555 (GRCm39) R229H probably benign Het
Or6c69b T C 10: 129,626,997 (GRCm39) I154V probably benign Het
Or8c14-ps1 T C 9: 38,101,885 (GRCm39) L288S unknown Het
Pcdhb4 A G 18: 37,442,349 (GRCm39) D553G probably benign Het
Phip A G 9: 82,769,662 (GRCm39) L1147P probably damaging Het
Phlpp1 A G 1: 106,320,706 (GRCm39) D1567G probably benign Het
Pigz T C 16: 31,760,858 (GRCm39) C20R probably damaging Het
Plpp1 A G 13: 113,004,002 (GRCm39) K252R probably benign Het
Polr2a A T 11: 69,625,874 (GRCm39) S1759T unknown Het
Rbm42 G T 7: 30,345,136 (GRCm39) P212T unknown Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Slc35e1 G A 8: 73,246,030 (GRCm39) P134L Het
Slc9a3 A C 13: 74,314,146 (GRCm39) Q818P probably benign Het
St3gal4 T C 9: 35,017,617 (GRCm39) probably null Het
Stard3nl G T 13: 19,554,521 (GRCm39) A151E probably damaging Het
Syt9 T A 7: 107,035,997 (GRCm39) I338N probably benign Het
Ticrr A T 7: 79,334,012 (GRCm39) probably null Het
Tlr4 T A 4: 66,757,713 (GRCm39) Y169N probably damaging Het
Tnc A C 4: 63,894,706 (GRCm39) I1560S possibly damaging Het
Usp7 C A 16: 8,515,771 (GRCm39) D644Y probably benign Het
Utp20 A G 10: 88,618,577 (GRCm39) I1141T possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r60 A G 7: 41,790,521 (GRCm39) M503V probably benign Het
Zfp600 T A 4: 146,133,182 (GRCm39) C617S unknown Het
Zfp819 A G 7: 43,267,148 (GRCm39) R544G 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
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'- AGAGCCCAGGTTGAGACTTG -3'
(R):5'- ACGGATCTCTAAGAGCTGGC -3'

Sequencing Primer
(F):5'- TCCTGATCTTCAACAGCAAGTG -3'
(R):5'- ATCTCTAAGAGCTGGCCAGGTG -3'
Posted On 2020-06-30