Incidental Mutation 'R8366:Zscan10'
| ID |
646191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan10
|
| Ensembl Gene |
ENSMUSG00000023902 |
| Gene Name |
zinc finger and SCAN domain containing 10 |
| Synonyms |
Zscan10, Zfp206 |
| MMRRC Submission |
067737-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.212)
|
| Stock # |
R8366 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23819830-23829993 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 23828952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 498
(R498L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095595]
[ENSMUST00000115509]
[ENSMUST00000117606]
[ENSMUST00000118369]
[ENSMUST00000120967]
[ENSMUST00000122285]
[ENSMUST00000123866]
[ENSMUST00000129227]
[ENSMUST00000138487]
[ENSMUST00000148062]
|
| AlphaFold |
Q3URR7 |
| PDB Structure |
Crystal structure of the SCAN domain from mouse Zfp206 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095595
AA Change: R498L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093255
Gene: ENSMUSG00000023902
AA Change: R498L
| 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 |
possibly damaging
Transcript: ENSMUST00000115509
AA Change: R388L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000111171
Gene: ENSMUSG00000023902
AA Change: R388L
| 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 damaging
Transcript: ENSMUST00000120967
AA Change: R466L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113386
Gene: ENSMUSG00000023902
AA Change: R466L
| 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 benign
Transcript: ENSMUST00000123866
|
| SMART Domains |
Protein: ENSMUSP00000116748
Gene: ENSMUSG00000023902
| 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 damaging
Transcript: ENSMUST00000129227
AA Change: R262L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118987
Gene: ENSMUSG00000023902
AA Change: R262L
| 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 |
probably benign
Transcript: ENSMUST00000138487
|
| SMART Domains |
Protein: ENSMUSP00000114341
Gene: ENSMUSG00000023902
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
39 |
148 |
3.37e-34 |
SMART |
|
ZnF_C2H2
|
236 |
258 |
5.59e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148062
AA Change: R421L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120876
Gene: ENSMUSG00000023902
AA Change: R421L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
A |
11: 72,067,521 (GRCm39) |
Q590* |
probably null |
Het |
| Adnp2 |
T |
C |
18: 80,173,725 (GRCm39) |
D228G |
probably damaging |
Het |
| Adrb2 |
T |
A |
18: 62,311,775 (GRCm39) |
Y350F |
probably benign |
Het |
| Agbl4 |
T |
C |
4: 111,423,861 (GRCm39) |
S296P |
probably damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Ampd1 |
A |
T |
3: 102,995,810 (GRCm39) |
D240V |
probably damaging |
Het |
| Armh3 |
T |
C |
19: 45,920,793 (GRCm39) |
Y468C |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,419,707 (GRCm39) |
S838G |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,160,799 (GRCm39) |
F2056L |
probably benign |
Het |
| Cyp4x1 |
A |
T |
4: 114,970,063 (GRCm39) |
S381T |
probably benign |
Het |
| Ddx20 |
A |
G |
3: 105,594,695 (GRCm39) |
S17P |
probably benign |
Het |
| Dlgap4 |
C |
A |
2: 156,542,694 (GRCm39) |
Y32* |
probably null |
Het |
| Dmbt1 |
T |
C |
7: 130,668,330 (GRCm39) |
F529L |
unknown |
Het |
| Ei24 |
A |
G |
9: 36,697,800 (GRCm39) |
S117P |
possibly damaging |
Het |
| Esyt1 |
T |
G |
10: 128,352,422 (GRCm39) |
N730H |
possibly damaging |
Het |
| Gcfc2 |
A |
G |
6: 81,900,782 (GRCm39) |
E32G |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,125,699 (GRCm39) |
I2952T |
|
Het |
| Mkrn3 |
A |
T |
7: 62,069,543 (GRCm39) |
S83T |
probably benign |
Het |
| Ncoa2 |
T |
A |
1: 13,250,830 (GRCm39) |
D284V |
probably damaging |
Het |
| Or10w1 |
A |
G |
19: 13,631,903 (GRCm39) |
S37G |
probably damaging |
Het |
| Osmr |
T |
A |
15: 6,850,435 (GRCm39) |
T724S |
possibly damaging |
Het |
| Pex1 |
A |
G |
5: 3,676,007 (GRCm39) |
E825G |
probably benign |
Het |
| Ranbp6 |
A |
G |
19: 29,789,299 (GRCm39) |
L351P |
probably damaging |
Het |
| Rbm20 |
C |
T |
19: 53,838,612 (GRCm39) |
T863I |
possibly damaging |
Het |
| Rcbtb2 |
T |
C |
14: 73,444,632 (GRCm39) |
S506P |
probably benign |
Het |
| Rdh12 |
T |
A |
12: 79,258,288 (GRCm39) |
I105N |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,267,195 (GRCm39) |
I299V |
possibly damaging |
Het |
| Rpap3 |
C |
T |
15: 97,579,548 (GRCm39) |
R488K |
probably benign |
Het |
| Rps6kb1 |
A |
C |
11: 86,402,655 (GRCm39) |
V346G |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,377,816 (GRCm39) |
S544P |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,865,566 (GRCm39) |
V162E |
probably damaging |
Het |
| Slc16a10 |
A |
G |
10: 39,952,867 (GRCm39) |
V209A |
probably benign |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| Teddm2 |
G |
T |
1: 153,726,575 (GRCm39) |
H47N |
probably damaging |
Het |
| Tmem74 |
C |
T |
15: 43,730,315 (GRCm39) |
G243R |
probably damaging |
Het |
| Trmt10c |
C |
T |
16: 55,854,426 (GRCm39) |
R403Q |
probably benign |
Het |
| Vps11 |
A |
T |
9: 44,267,052 (GRCm39) |
Y394* |
probably null |
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 |
|
|
P0043:Zscan10
|
UTSW |
17 |
23,828,594 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAACCAGGGTTTTCAGCGTCG -3'
(R):5'- ACCCGTATGAATCTGCTGGTG -3'
Sequencing Primer
(F):5'- GGTTTTCAGCGTCGCTCCAG -3'
(R):5'- ATTTTGGGTAAAGCAGCGGCC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation