Incidental Mutation 'R9568:Zfp384'
ID 721755
Institutional Source Beutler Lab
Gene Symbol Zfp384
Ensembl Gene ENSMUSG00000038346
Gene Name zinc finger protein 384
Synonyms Ciz, C130073D16Rik, Nmp4
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R9568 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 124986108-125014833 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 125001796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 147 (I147N)
Ref Sequence ENSEMBL: ENSMUSP00000081296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046064] [ENSMUST00000054553] [ENSMUST00000084275] [ENSMUST00000088308] [ENSMUST00000112424] [ENSMUST00000112425] [ENSMUST00000112427] [ENSMUST00000112428] [ENSMUST00000152752]
AlphaFold E9Q1A5
Predicted Effect probably damaging
Transcript: ENSMUST00000046064
AA Change: I147N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037986
Gene: ENSMUSG00000038346
AA Change: I147N

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 possibly damaging
Transcript: ENSMUST00000084275
AA Change: I147N

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000081296
Gene: ENSMUSG00000038346
AA Change: I147N

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 possibly damaging
Transcript: ENSMUST00000088308
AA Change: I147N

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000085648
Gene: ENSMUSG00000038346
AA Change: I147N

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 damaging
Transcript: ENSMUST00000112424
AA Change: I131N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108043
Gene: ENSMUSG00000038346
AA Change: I131N

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 damaging
Transcript: ENSMUST00000112425
AA Change: I147N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108044
Gene: ENSMUSG00000038346
AA Change: I147N

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 possibly damaging
Transcript: ENSMUST00000112427
AA Change: I147N

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108046
Gene: ENSMUSG00000038346
AA Change: I147N

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 damaging
Transcript: ENSMUST00000112428
AA Change: I147N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108047
Gene: ENSMUSG00000038346
AA Change: I147N

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: ENSMUST00000152752
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a T G 12: 113,508,020 (GRCm39) V131G possibly damaging Het
Agr3 G T 12: 35,998,349 (GRCm39) M149I probably benign Het
Alox12b T A 11: 69,054,836 (GRCm39) C280S possibly damaging Het
Amhr2 C A 15: 102,353,954 (GRCm39) Q16K probably benign Het
Ank1 A G 8: 23,609,381 (GRCm39) T1387A probably benign Het
B3gnt9 A C 8: 105,980,203 (GRCm39) F395C probably damaging Het
BC048562 A G 9: 108,322,905 (GRCm39) D80G probably damaging Het
Ccdc65 T A 15: 98,620,819 (GRCm39) M438K possibly damaging Het
Ccz1 T C 5: 143,938,251 (GRCm39) R240G probably damaging Het
Cish A T 9: 107,177,593 (GRCm39) S90C probably benign Het
Col5a2 A T 1: 45,430,998 (GRCm39) S881T possibly damaging Het
Col6a6 G A 9: 105,657,926 (GRCm39) T762I possibly damaging Het
Cpa1 A G 6: 30,640,060 (GRCm39) K49E probably benign Het
Cpb1 T C 3: 20,320,697 (GRCm39) probably null Het
Csmd3 A G 15: 48,150,942 (GRCm39) S483P probably damaging Het
Cul9 G A 17: 46,831,044 (GRCm39) T1643I possibly damaging Het
Dock2 T C 11: 34,599,638 (GRCm39) K314E possibly damaging Het
Elp1 G T 4: 56,786,711 (GRCm39) P411T probably damaging Het
Fam186b T G 15: 99,176,571 (GRCm39) K773T probably damaging Het
Fancl T A 11: 26,418,672 (GRCm39) V259E probably benign Het
Fat4 T G 3: 38,946,156 (GRCm39) I1683S probably damaging Het
Fcamr T A 1: 130,732,356 (GRCm39) H114Q probably damaging Het
Fndc11 T C 2: 180,864,046 (GRCm39) F284L probably damaging Het
Galns A G 8: 123,311,649 (GRCm39) probably null Het
Gch1 A G 14: 47,426,637 (GRCm39) S30P probably benign Het
Gcnt3 A G 9: 69,942,346 (GRCm39) I74T probably benign Het
Gfral A T 9: 76,104,383 (GRCm39) C210S probably damaging Het
Gm26566 G A 4: 88,640,247 (GRCm39) A13T unknown Het
Gm9936 A T 5: 114,995,166 (GRCm39) D150E unknown Het
Gsn C A 2: 35,174,003 (GRCm39) D75E probably benign Het
Ighd2-7 T C 12: 113,420,344 (GRCm39) T5A possibly damaging Het
Itsn1 G T 16: 91,649,782 (GRCm39) R152L probably benign Het
Klhl3 A T 13: 58,157,126 (GRCm39) L620Q probably damaging Het
Larp7-ps G T 4: 92,079,915 (GRCm39) Y24* probably null Het
Lpl G A 8: 69,340,235 (GRCm39) V77M probably benign Het
Lrfn3 A T 7: 30,058,916 (GRCm39) H436Q probably benign Het
Lrp1b A G 2: 40,569,227 (GRCm39) C3965R Het
Lrrc2 G A 9: 110,799,228 (GRCm39) probably null Het
Manea C A 4: 26,340,468 (GRCm39) D165Y probably damaging Het
Myom1 A T 17: 71,394,476 (GRCm39) Q992L probably damaging Het
Naip5 T C 13: 100,359,821 (GRCm39) T472A probably benign Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nyap1 C T 5: 137,733,394 (GRCm39) W546* probably null Het
Olfml3 T G 3: 103,644,282 (GRCm39) Y129S possibly damaging Het
Or4d5 A T 9: 40,011,864 (GRCm39) D307E probably benign Het
Or5h19 C A 16: 58,856,213 (GRCm39) V296F probably damaging Het
Or6z5 A G 7: 6,477,334 (GRCm39) E75G probably damaging Het
Or9k2b T A 10: 130,015,814 (GRCm39) I312F probably benign Het
P2rx6 A C 16: 17,385,300 (GRCm39) probably null Het
Plxnb2 A T 15: 89,045,160 (GRCm39) Y1095* probably null Het
Pmepa1 G A 2: 173,069,794 (GRCm39) R216C probably damaging Het
Prodh A G 16: 17,902,619 (GRCm39) probably benign Het
Ptch1 A G 13: 63,689,987 (GRCm39) Y389H probably damaging Het
Ptgs2 G T 1: 149,976,842 (GRCm39) probably null Het
Rbm14 A G 19: 4,861,464 (GRCm39) Y25H probably damaging Het
Rfc2 T C 5: 134,622,112 (GRCm39) L197P probably damaging Het
Rnf19b G T 4: 128,967,397 (GRCm39) W313L probably damaging Het
Sh3rf1 G T 8: 61,825,585 (GRCm39) A527S probably benign Het
Slc12a1 A G 2: 125,032,218 (GRCm39) Y623C probably damaging Het
Slc25a54 T A 3: 109,005,932 (GRCm39) W147R probably damaging Het
Slc4a1 A G 11: 102,247,680 (GRCm39) L401P probably damaging Het
Slc4a7 A G 14: 14,796,073 (GRCm38) probably null Het
Stab2 A G 10: 86,699,420 (GRCm39) Y1933H probably damaging Het
Supt5 A T 7: 28,014,688 (GRCm39) V1037E probably damaging Het
Sv2b A T 7: 74,775,428 (GRCm39) H466Q probably benign Het
Tmco5 G A 2: 116,710,730 (GRCm39) E17K probably damaging Het
Tmem69 G A 4: 116,411,972 (GRCm39) S12F probably damaging Het
Trp53 C A 11: 69,478,392 (GRCm39) Y100* probably null Het
Trpm7 A T 2: 126,664,510 (GRCm39) H956Q probably benign Het
Tsnaxip1 G A 8: 106,569,135 (GRCm39) R495H probably benign Het
Vmn1r237 A T 17: 21,534,777 (GRCm39) I167F probably benign Het
Vmn1r70 A G 7: 10,368,292 (GRCm39) D260G probably benign Het
Zbtb38 G A 9: 96,570,944 (GRCm39) H47Y probably damaging Het
Zfp184 G T 13: 22,142,897 (GRCm39) C201F 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
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
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'- TGAGGGGTTACTTAGACAATGGTC -3'
(R):5'- ATGGTCATCGTCATCCCCAG -3'

Sequencing Primer
(F):5'- CAATGGTCTGGGGAAATGAGGTG -3'
(R):5'- CAAGGACGTAAGGGTCATTCATCTC -3'
Posted On 2022-08-09