Incidental Mutation 'RF026:Zfp384'
| ID |
604166 |
| 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: 0.169)
|
| Stock # |
RF026 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124986108-125014833 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
CAGGC to CAGGCCCATGCCAAGGC
at 125013455 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: 98.4%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI837181 |
GCG |
GCGTCG |
19: 5,475,252 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCTGCGGC |
18: 36,693,965 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
GA |
GAGTA |
X: 7,486,314 (GRCm39) |
|
probably null |
Het |
| Cox7a2l |
GGA |
GGATGGGGA |
17: 83,810,151 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
CCT |
CCTACT |
17: 46,811,795 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
ACACACTGCC |
ACACACTGCCTAGGGATGTGACAGCCACACTGCC |
9: 86,922,486 (GRCm39) |
|
probably benign |
Het |
| Foxd3 |
GGACCCTACGGCCG |
GG |
4: 99,545,633 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,596 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,629 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
GCAG |
GCAGCAGCAGCCACAGCTACAG |
4: 59,610,655 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
TTT |
TTTTGTT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGC |
CACAGCAACAGC |
1: 83,019,847 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
CCACTGCTGCT |
CCACTGCTGCTTTCACTGCTGCT |
3: 92,925,445 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
GCTGCTGCCAC |
GCTGCTGCCACTTCTGCTGCCAC |
3: 92,925,450 (GRCm39) |
|
probably benign |
Het |
| Mrgprx1 |
GAAC |
GAACAAC |
7: 47,671,257 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
GCTG |
GCTGGGATACACGTTAGCAGTGAGGAGCAATCTG |
2: 119,458,085 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
GCAGTGAGGAGCAAGCTGAGA |
GCAGTGAGGAGCAAGCTGAGATACACGTTATCAGTGAGGAGCAAGCTGAGA |
2: 119,458,071 (GRCm39) |
|
probably benign |
Het |
| Pdik1l |
CCCA |
CCCACCA |
4: 134,013,905 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
CCAGCCGCAGC |
CCAGC |
5: 28,599,179 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
T |
TACAGCA |
3: 54,635,068 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
CA |
CAGCAGTA |
3: 54,635,091 (GRCm39) |
|
probably null |
Het |
| Trav15-2-dv6-2 |
G |
GAAT |
14: 53,887,214 (GRCm39) |
|
probably benign |
Het |
| Yipf3 |
AGAGGA |
AGA |
17: 46,559,898 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zfp384 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
|
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'- AAGAGCCCAGGTTGAGACTTG -3'
(R):5'- ATGCTCTGCCGGCTTATAGG -3'
Sequencing Primer
(F):5'- TCTCCCTCAGGAAACATACCTTATG -3'
(R):5'- CCGGCTTATAGGGGGTCAAGTC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation