Incidental Mutation 'R0345:Zscan10'
| ID |
38415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan10
|
| Ensembl Gene |
ENSMUSG00000023902 |
| Gene Name |
zinc finger and SCAN domain containing 10 |
| Synonyms |
Zscan10, Zfp206 |
| MMRRC Submission |
038552-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.212)
|
| Stock # |
R0345 (G1)
|
| Quality Score |
159 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23819830-23829993 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23829056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 456
(F456I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095595]
[ENSMUST00000115509]
[ENSMUST00000117606]
[ENSMUST00000118369]
[ENSMUST00000120967]
[ENSMUST00000122285]
[ENSMUST00000123866]
[ENSMUST00000148062]
[ENSMUST00000129227]
[ENSMUST00000138487]
|
| AlphaFold |
Q3URR7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095595
AA Change: F533I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093255
Gene: ENSMUSG00000023902
AA Change: F533I
| 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: F423I
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000111171
Gene: ENSMUSG00000023902
AA Change: F423I
| 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: F501I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113386
Gene: ENSMUSG00000023902
AA Change: F501I
| 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: ENSMUST00000148062
AA Change: F456I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120876
Gene: ENSMUSG00000023902
AA Change: F456I
| 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 damaging
Transcript: ENSMUST00000129227
AA Change: F297I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118987
Gene: ENSMUSG00000023902
AA Change: F297I
| 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
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
C |
14: 59,377,079 (GRCm39) |
N105D |
possibly damaging |
Het |
| A2m |
T |
C |
6: 121,615,231 (GRCm39) |
|
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,415,198 (GRCm39) |
N641S |
probably damaging |
Het |
| Aff4 |
T |
A |
11: 53,263,708 (GRCm39) |
S243T |
probably benign |
Het |
| Agap2 |
A |
G |
10: 126,923,764 (GRCm39) |
H713R |
unknown |
Het |
| Ap2a2 |
T |
A |
7: 141,211,206 (GRCm39) |
M914K |
probably damaging |
Het |
| Bcl7c |
A |
T |
7: 127,307,635 (GRCm39) |
M22K |
possibly damaging |
Het |
| Cacna1i |
A |
T |
15: 80,256,663 (GRCm39) |
D1019V |
probably damaging |
Het |
| Cd7 |
T |
C |
11: 120,929,012 (GRCm39) |
T80A |
probably benign |
Het |
| Chia1 |
T |
C |
3: 106,029,755 (GRCm39) |
Y130H |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,808,872 (GRCm39) |
|
probably benign |
Het |
| Chrnb4 |
A |
G |
9: 54,942,878 (GRCm39) |
V132A |
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 63,402,619 (GRCm39) |
D110G |
probably benign |
Het |
| Cyp2d37-ps |
A |
T |
15: 82,573,975 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah6 |
T |
C |
6: 72,998,240 (GRCm39) |
M4061V |
probably benign |
Het |
| Dydc2 |
C |
A |
14: 40,783,903 (GRCm39) |
M73I |
probably benign |
Het |
| Egflam |
G |
T |
15: 7,319,475 (GRCm39) |
|
probably null |
Het |
| Fam228b |
C |
T |
12: 4,798,351 (GRCm39) |
V151I |
possibly damaging |
Het |
| Fanca |
C |
T |
8: 124,031,552 (GRCm39) |
V380I |
probably damaging |
Het |
| Gbp2b |
T |
C |
3: 142,313,944 (GRCm39) |
L408S |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,648,507 (GRCm39) |
S66G |
probably benign |
Het |
| Kcnq3 |
A |
T |
15: 65,892,154 (GRCm39) |
V407D |
possibly damaging |
Het |
| Kif24 |
A |
T |
4: 41,428,413 (GRCm39) |
D182E |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,740,818 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,114,313 (GRCm39) |
N140K |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,204,701 (GRCm39) |
E1518G |
probably damaging |
Het |
| Myof |
A |
T |
19: 38,012,793 (GRCm39) |
N47K |
probably damaging |
Het |
| Nckap1 |
G |
T |
2: 80,375,321 (GRCm39) |
|
probably benign |
Het |
| Nlrp1a |
C |
A |
11: 71,014,501 (GRCm39) |
G250W |
probably damaging |
Het |
| Nol4l |
T |
A |
2: 153,253,672 (GRCm39) |
S390C |
probably benign |
Het |
| Or2ag2b |
T |
C |
7: 106,417,908 (GRCm39) |
F206S |
probably benign |
Het |
| Or52e18 |
T |
A |
7: 104,609,388 (GRCm39) |
M184L |
probably damaging |
Het |
| Or5ak22 |
T |
C |
2: 85,230,685 (GRCm39) |
Q64R |
possibly damaging |
Het |
| Or5h26 |
G |
A |
16: 58,988,269 (GRCm39) |
P79L |
possibly damaging |
Het |
| Plec |
G |
T |
15: 76,061,367 (GRCm39) |
P2886T |
probably damaging |
Het |
| Prdm16 |
T |
C |
4: 154,425,568 (GRCm39) |
Y738C |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,016,164 (GRCm39) |
Y820C |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Sgce |
G |
A |
6: 4,718,019 (GRCm39) |
P98S |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,001,368 (GRCm39) |
F112S |
probably damaging |
Het |
| Slc6a16 |
C |
T |
7: 44,908,672 (GRCm39) |
A84V |
possibly damaging |
Het |
| Sntb2 |
T |
C |
8: 107,728,170 (GRCm39) |
S373P |
probably damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,185,218 (GRCm39) |
V953I |
probably benign |
Het |
| Spata31f1a |
T |
C |
4: 42,851,116 (GRCm39) |
I347V |
probably benign |
Het |
| St7l |
T |
C |
3: 104,803,125 (GRCm39) |
|
probably benign |
Het |
| Stap2 |
A |
G |
17: 56,307,097 (GRCm39) |
V217A |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,108,670 (GRCm39) |
D215E |
probably damaging |
Het |
| Synm |
C |
T |
7: 67,385,569 (GRCm39) |
V256I |
probably benign |
Het |
| Syt13 |
A |
C |
2: 92,776,412 (GRCm39) |
E233A |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,295,514 (GRCm39) |
E327V |
probably damaging |
Het |
| Tent5b |
A |
T |
4: 133,213,522 (GRCm39) |
Q131L |
probably benign |
Het |
| Themis3 |
A |
T |
17: 66,866,540 (GRCm39) |
|
probably null |
Het |
| Ttll13 |
T |
A |
7: 79,897,084 (GRCm39) |
D14E |
probably benign |
Het |
| Tubb2a |
A |
C |
13: 34,260,620 (GRCm39) |
D26E |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,734,584 (GRCm39) |
|
probably null |
Het |
| Vps13d |
A |
T |
4: 144,844,195 (GRCm39) |
V2537E |
possibly damaging |
Het |
| Zyg11b |
A |
G |
4: 108,123,604 (GRCm39) |
I121T |
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 |
|
|
P0043:Zscan10
|
UTSW |
17 |
23,828,594 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGAAGCACTTGCTAACGCATTCC -3'
(R):5'- AAGGCCAGCTCGTCTCACAAAG -3'
Sequencing Primer
(F):5'- AACCAGGGTTTTCAGCGTC -3'
(R):5'- AGCGTTTGCTGCACTGAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation