Incidental Mutation 'P0043:Zscan10'
ID |
7660 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zscan10
|
Ensembl Gene |
ENSMUSG00000023902 |
Gene Name |
zinc finger and SCAN domain containing 10 |
Synonyms |
Zscan10, Zfp206 |
MMRRC Submission |
038291-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.212)
|
Stock # |
P0043 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
23819830-23829993 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 23828594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 302
(R302*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120876
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095595]
[ENSMUST00000115509]
[ENSMUST00000117606]
[ENSMUST00000118369]
[ENSMUST00000120967]
[ENSMUST00000122285]
[ENSMUST00000138487]
[ENSMUST00000123866]
[ENSMUST00000148062]
[ENSMUST00000129227]
|
AlphaFold |
Q3URR7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000095595
AA Change: R379*
|
SMART Domains |
Protein: ENSMUSP00000093255 Gene: ENSMUSG00000023902 AA Change: R379*
Domain | Start | End | E-Value | Type |
SCAN
|
39 |
145 |
1.28e-34 |
SMART |
low complexity region
|
173 |
194 |
N/A |
INTRINSIC |
ZnF_C2H2
|
343 |
366 |
4.4e-2 |
SMART |
ZnF_C2H2
|
378 |
400 |
5.59e-4 |
SMART |
ZnF_C2H2
|
406 |
428 |
1.25e-1 |
SMART |
ZnF_C2H2
|
434 |
456 |
2.05e-2 |
SMART |
ZnF_C2H2
|
478 |
500 |
2.75e-3 |
SMART |
low complexity region
|
507 |
521 |
N/A |
INTRINSIC |
ZnF_C2H2
|
524 |
547 |
1.82e-3 |
SMART |
ZnF_C2H2
|
553 |
575 |
3.16e-3 |
SMART |
ZnF_C2H2
|
581 |
603 |
1.95e-3 |
SMART |
ZnF_C2H2
|
609 |
631 |
4.17e-3 |
SMART |
ZnF_C2H2
|
637 |
659 |
1.56e-2 |
SMART |
ZnF_C2H2
|
665 |
687 |
2.4e-3 |
SMART |
ZnF_C2H2
|
693 |
715 |
1.98e-4 |
SMART |
ZnF_C2H2
|
726 |
748 |
1.58e-3 |
SMART |
ZnF_C2H2
|
754 |
776 |
6.42e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115509
AA Change: R269*
|
SMART Domains |
Protein: ENSMUSP00000111171 Gene: ENSMUSG00000023902 AA Change: R269*
Domain | Start | End | E-Value | Type |
SCAN
|
39 |
148 |
3.37e-34 |
SMART |
ZnF_C2H2
|
233 |
256 |
4.4e-2 |
SMART |
ZnF_C2H2
|
268 |
290 |
5.59e-4 |
SMART |
ZnF_C2H2
|
296 |
318 |
1.25e-1 |
SMART |
ZnF_C2H2
|
324 |
346 |
2.05e-2 |
SMART |
ZnF_C2H2
|
368 |
390 |
2.75e-3 |
SMART |
low complexity region
|
397 |
411 |
N/A |
INTRINSIC |
ZnF_C2H2
|
414 |
437 |
1.82e-3 |
SMART |
ZnF_C2H2
|
443 |
465 |
3.16e-3 |
SMART |
ZnF_C2H2
|
471 |
493 |
1.95e-3 |
SMART |
ZnF_C2H2
|
499 |
521 |
4.17e-3 |
SMART |
ZnF_C2H2
|
527 |
549 |
1.56e-2 |
SMART |
ZnF_C2H2
|
555 |
577 |
2.4e-3 |
SMART |
ZnF_C2H2
|
583 |
605 |
1.98e-4 |
SMART |
ZnF_C2H2
|
616 |
638 |
1.58e-3 |
SMART |
ZnF_C2H2
|
644 |
666 |
6.42e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117606
|
SMART Domains |
Protein: ENSMUSP00000112460 Gene: ENSMUSG00000023902
Domain | Start | End | E-Value | Type |
SCAN
|
39 |
147 |
1.73e-31 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118369
|
SMART Domains |
Protein: ENSMUSP00000113757 Gene: ENSMUSG00000023902
Domain | Start | End | E-Value | Type |
SCAN
|
39 |
152 |
1.59e-30 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000120967
AA Change: R347*
|
SMART Domains |
Protein: ENSMUSP00000113386 Gene: ENSMUSG00000023902 AA Change: R347*
Domain | Start | End | E-Value | Type |
SCAN
|
39 |
145 |
1.28e-34 |
SMART |
low complexity region
|
173 |
194 |
N/A |
INTRINSIC |
ZnF_C2H2
|
346 |
368 |
5.59e-4 |
SMART |
ZnF_C2H2
|
374 |
396 |
1.25e-1 |
SMART |
ZnF_C2H2
|
402 |
424 |
2.05e-2 |
SMART |
ZnF_C2H2
|
446 |
468 |
2.75e-3 |
SMART |
low complexity region
|
475 |
489 |
N/A |
INTRINSIC |
ZnF_C2H2
|
492 |
515 |
1.82e-3 |
SMART |
ZnF_C2H2
|
521 |
543 |
3.16e-3 |
SMART |
ZnF_C2H2
|
549 |
571 |
1.95e-3 |
SMART |
ZnF_C2H2
|
577 |
599 |
4.17e-3 |
SMART |
ZnF_C2H2
|
605 |
627 |
1.56e-2 |
SMART |
ZnF_C2H2
|
633 |
655 |
2.4e-3 |
SMART |
ZnF_C2H2
|
661 |
683 |
1.98e-4 |
SMART |
ZnF_C2H2
|
694 |
716 |
1.58e-3 |
SMART |
ZnF_C2H2
|
722 |
744 |
6.42e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122285
|
SMART Domains |
Protein: ENSMUSP00000112559 Gene: ENSMUSG00000023902
Domain | Start | End | E-Value | Type |
SCAN
|
39 |
152 |
1.59e-30 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000138487
AA Change: R237*
|
SMART Domains |
Protein: ENSMUSP00000114341 Gene: ENSMUSG00000023902 AA Change: R237*
Domain | Start | End | E-Value | Type |
SCAN
|
39 |
148 |
3.37e-34 |
SMART |
ZnF_C2H2
|
236 |
258 |
5.59e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000123866
AA Change: R303*
|
SMART Domains |
Protein: ENSMUSP00000116748 Gene: ENSMUSG00000023902 AA Change: R303*
Domain | Start | End | E-Value | Type |
SCAN
|
39 |
148 |
2.38e-34 |
SMART |
ZnF_C2H2
|
267 |
290 |
4.4e-2 |
SMART |
ZnF_C2H2
|
302 |
324 |
5.59e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000148062
AA Change: R302*
|
SMART Domains |
Protein: ENSMUSP00000120876 Gene: ENSMUSG00000023902 AA Change: R302*
Domain | Start | End | E-Value | Type |
Pfam:SCAN
|
37 |
88 |
7.5e-20 |
PFAM |
low complexity region
|
128 |
149 |
N/A |
INTRINSIC |
ZnF_C2H2
|
301 |
323 |
5.59e-4 |
SMART |
ZnF_C2H2
|
329 |
351 |
1.25e-1 |
SMART |
ZnF_C2H2
|
357 |
379 |
2.05e-2 |
SMART |
ZnF_C2H2
|
401 |
423 |
2.75e-3 |
SMART |
low complexity region
|
430 |
444 |
N/A |
INTRINSIC |
ZnF_C2H2
|
447 |
470 |
1.82e-3 |
SMART |
ZnF_C2H2
|
476 |
498 |
3.16e-3 |
SMART |
ZnF_C2H2
|
504 |
526 |
1.95e-3 |
SMART |
ZnF_C2H2
|
532 |
554 |
4.17e-3 |
SMART |
ZnF_C2H2
|
560 |
582 |
1.56e-2 |
SMART |
ZnF_C2H2
|
588 |
610 |
2.4e-3 |
SMART |
ZnF_C2H2
|
616 |
638 |
1.98e-4 |
SMART |
ZnF_C2H2
|
649 |
671 |
1.58e-3 |
SMART |
ZnF_C2H2
|
677 |
699 |
6.42e-4 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000129227
AA Change: R143*
|
SMART Domains |
Protein: ENSMUSP00000118987 Gene: ENSMUSG00000023902 AA Change: R143*
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
142 |
164 |
5.59e-4 |
SMART |
ZnF_C2H2
|
170 |
192 |
1.25e-1 |
SMART |
ZnF_C2H2
|
198 |
220 |
2.05e-2 |
SMART |
ZnF_C2H2
|
242 |
264 |
2.75e-3 |
SMART |
low complexity region
|
271 |
285 |
N/A |
INTRINSIC |
ZnF_C2H2
|
288 |
311 |
1.82e-3 |
SMART |
ZnF_C2H2
|
317 |
339 |
3.16e-3 |
SMART |
ZnF_C2H2
|
345 |
367 |
1.95e-3 |
SMART |
ZnF_C2H2
|
373 |
395 |
4.17e-3 |
SMART |
ZnF_C2H2
|
401 |
423 |
1.56e-2 |
SMART |
ZnF_C2H2
|
429 |
451 |
2.4e-3 |
SMART |
ZnF_C2H2
|
457 |
479 |
1.98e-4 |
SMART |
ZnF_C2H2
|
490 |
512 |
1.58e-3 |
SMART |
ZnF_C2H2
|
518 |
540 |
6.42e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133749
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125912
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 81.5%
- 3x: 74.1%
- 10x: 50.1%
- 20x: 26.7%
|
Validation Efficiency |
74% (145/195) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit a pleiotropic phenotype including reduced weight, mild hypoplasia in the spleen, heart and long bones, eye malformations including microphthalmia, altered platelet counts, an activated immune status, and behavioral alterations. [provided by MGI curators]
|
Allele List at MGI |
All alleles(357) : Targeted(5) Gene trapped(352)
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Chn1 |
A |
T |
2: 73,454,509 (GRCm39) |
V247E |
probably damaging |
Het |
Col28a1 |
T |
A |
6: 8,168,152 (GRCm39) |
|
probably benign |
Het |
Cxcl5 |
A |
G |
5: 90,907,826 (GRCm39) |
I85M |
probably damaging |
Het |
Fnip1 |
A |
G |
11: 54,394,051 (GRCm39) |
E829G |
probably benign |
Het |
Kctd18 |
G |
A |
1: 58,006,722 (GRCm39) |
R43C |
probably damaging |
Het |
Kidins220 |
T |
A |
12: 25,058,155 (GRCm39) |
F629I |
probably damaging |
Het |
Lamb1 |
T |
C |
12: 31,328,620 (GRCm39) |
S195P |
probably damaging |
Het |
Lrrc74b |
A |
T |
16: 17,376,023 (GRCm39) |
|
probably benign |
Het |
Mrpl30 |
A |
G |
1: 37,937,259 (GRCm39) |
T133A |
probably benign |
Het |
Mrps27 |
A |
G |
13: 99,548,754 (GRCm39) |
T297A |
probably benign |
Het |
Per1 |
G |
T |
11: 68,992,869 (GRCm39) |
|
probably benign |
Het |
Ptprq |
C |
A |
10: 107,416,086 (GRCm39) |
M1737I |
probably benign |
Het |
Ropn1l |
A |
C |
15: 31,457,447 (GRCm39) |
|
probably benign |
Het |
Sfrp4 |
A |
G |
13: 19,807,765 (GRCm39) |
I55V |
probably benign |
Het |
Spata31 |
G |
A |
13: 65,068,820 (GRCm39) |
|
probably null |
Het |
Trpm6 |
T |
A |
19: 18,855,129 (GRCm39) |
D1929E |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,628,358 (GRCm39) |
S12855P |
probably damaging |
Het |
|
Other mutations in Zscan10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00572:Zscan10
|
APN |
17 |
23,828,435 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01353:Zscan10
|
APN |
17 |
23,828,574 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02327:Zscan10
|
APN |
17 |
23,826,546 (GRCm39) |
splice site |
probably benign |
|
IGL02556:Zscan10
|
APN |
17 |
23,827,119 (GRCm39) |
missense |
possibly damaging |
0.90 |
FR4737:Zscan10
|
UTSW |
17 |
23,828,419 (GRCm39) |
small deletion |
probably benign |
|
R0345:Zscan10
|
UTSW |
17 |
23,829,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R0401:Zscan10
|
UTSW |
17 |
23,824,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R0699:Zscan10
|
UTSW |
17 |
23,827,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R0838:Zscan10
|
UTSW |
17 |
23,829,008 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0919:Zscan10
|
UTSW |
17 |
23,828,981 (GRCm39) |
missense |
probably damaging |
0.99 |
R1940:Zscan10
|
UTSW |
17 |
23,828,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R4647:Zscan10
|
UTSW |
17 |
23,829,314 (GRCm39) |
missense |
probably benign |
|
R4753:Zscan10
|
UTSW |
17 |
23,826,208 (GRCm39) |
missense |
probably damaging |
0.99 |
R4971:Zscan10
|
UTSW |
17 |
23,826,147 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5110:Zscan10
|
UTSW |
17 |
23,828,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R5410:Zscan10
|
UTSW |
17 |
23,829,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R5516:Zscan10
|
UTSW |
17 |
23,828,333 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5871:Zscan10
|
UTSW |
17 |
23,826,241 (GRCm39) |
intron |
probably benign |
|
R6109:Zscan10
|
UTSW |
17 |
23,826,103 (GRCm39) |
missense |
probably damaging |
0.98 |
R6626:Zscan10
|
UTSW |
17 |
23,824,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R6750:Zscan10
|
UTSW |
17 |
23,826,164 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6846:Zscan10
|
UTSW |
17 |
23,824,581 (GRCm39) |
missense |
probably damaging |
0.97 |
R7184:Zscan10
|
UTSW |
17 |
23,826,003 (GRCm39) |
splice site |
probably null |
|
R7223:Zscan10
|
UTSW |
17 |
23,828,456 (GRCm39) |
missense |
probably benign |
0.00 |
R7436:Zscan10
|
UTSW |
17 |
23,828,979 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8224:Zscan10
|
UTSW |
17 |
23,828,366 (GRCm39) |
missense |
probably benign |
|
R8366:Zscan10
|
UTSW |
17 |
23,828,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R8787:Zscan10
|
UTSW |
17 |
23,829,011 (GRCm39) |
missense |
probably benign |
|
R8918:Zscan10
|
UTSW |
17 |
23,826,116 (GRCm39) |
missense |
probably benign |
0.24 |
R8924:Zscan10
|
UTSW |
17 |
23,824,580 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9266:Zscan10
|
UTSW |
17 |
23,828,385 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9454:Zscan10
|
UTSW |
17 |
23,826,619 (GRCm39) |
critical splice donor site |
probably null |
|
R9786:Zscan10
|
UTSW |
17 |
23,828,330 (GRCm39) |
nonsense |
probably null |
|
|
Protein Function and Prediction |
Zfp206 (alternatively, Zscan10) is a SCAN-Zinc finger transcription factor expressed specifically in embryonic stem (ES) cells (1-3). Zfp206 is a regulator of ES cell differentiation and regulates the expression of regulator genes early in development (1). Further studies found that Zfp206 regulates pluripotency of ES cells through the activation of the Oct4 and Nanog promoters (4). In addition, Zfp206 works together with Oct4 and Sox2 to regulate the differentiation of ES cells (5).
|
Expression/Localization |
Zfp206 expression decreases rapidly upon differentiation of cultured mouse ES cells, and during development of mouse embryos (1). Zfp206 is not expressed in adult tissues, with the exception of testis (4).
|
References |
1. Zhang, W., Walker, E., Tamplin, O. J., Rossant, J., Stanford, W. L., and Hughes, T. R. (2006) Zfp206 Regulates ES Cell Gene Expression and Differentiation. Nucleic Acids Res. 34, 4780-4790.
2. Zhang, W., Morris, Q. D., Chang, R., Shai, O., Bakowski, M. A., Mitsakakis, N., Mohammad, N., Robinson, M. D., Zirngibl, R., Somogyi, E., Laurin, N., Eftekharpour, E., Sat, E., Grigull, J., Pan, Q., Peng, W. T., Krogan, N., Greenblatt, J., Fehlings, M., van der Kooy, D., Aubin, J., Bruneau, B. G., Rossant, J., Blencowe, B. J., Frey, B. J., and Hughes, T. R. (2004) The Functional Landscape of Mouse Gene Expression. J Biol. 3, 21.
3. Brandenberger, R., Wei, H., Zhang, S., Lei, S., Murage, J., Fisk, G. J., Li, Y., Xu, C., Fang, R., Guegler, K., Rao, M. S., Mandalam, R., Lebkowski, J., and Stanton, L. W. (2004) Transcriptome Characterization Elucidates Signaling Networks that Control Human ES Cell Growth and Differentiation. Nat Biotechnol. 22, 707-716.
4. Wang, Z. X., Kueh, J. L., Teh, C. H., Rossbach, M., Lim, L., Li, P., Wong, K. Y., Lufkin, T., Robson, P., and Stanton, L. W. (2007) Zfp206 is a Transcription Factor that Controls Pluripotency of Embryonic Stem Cells. Stem Cells. 25, 2173-2182.
5. Yu, H. B., Kunarso, G., Hong, F. H., and Stanton, L. W. (2009) Zfp206, Oct4, and Sox2 are Integrated Components of a Transcriptional Regulatory Network in Embryonic Stem Cells. J Biol Chem. 284, 31327-31335.
|
Posted On |
2012-10-29 |
Science Writer |
Anne Murray |