Incidental Mutation 'R5516:Zscan10'
| ID |
431314 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan10
|
| Ensembl Gene |
ENSMUSG00000023902 |
| Gene Name |
zinc finger and SCAN domain containing 10 |
| Synonyms |
Zscan10, Zfp206 |
| MMRRC Submission |
043075-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.212)
|
| Stock # |
R5516 (G1)
|
| Quality Score |
184 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23819830-23829993 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23828333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 182
(T182A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095595]
[ENSMUST00000115509]
[ENSMUST00000117606]
[ENSMUST00000118369]
[ENSMUST00000120967]
[ENSMUST00000122285]
[ENSMUST00000123866]
[ENSMUST00000138487]
[ENSMUST00000129227]
[ENSMUST00000148062]
|
| AlphaFold |
Q3URR7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095595
AA Change: T292A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000093255
Gene: ENSMUSG00000023902
AA Change: T292A
| 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: T182A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000111171
Gene: ENSMUSG00000023902
AA Change: T182A
| 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 benign
Transcript: ENSMUST00000120967
AA Change: T292A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113386
Gene: ENSMUSG00000023902
AA Change: T292A
| 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
AA Change: T216A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116748
Gene: ENSMUSG00000023902
AA Change: T216A
| 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 benign
Transcript: ENSMUST00000138487
AA Change: T182A
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000114341
Gene: ENSMUSG00000023902
AA Change: T182A
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
39 |
148 |
3.37e-34 |
SMART |
|
ZnF_C2H2
|
236 |
258 |
5.59e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129227
AA Change: T88A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118987
Gene: ENSMUSG00000023902
AA Change: T88A
| 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: ENSMUST00000148062
AA Change: T247A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120876
Gene: ENSMUSG00000023902
AA Change: T247A
| 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 |
noncoding transcript
Transcript: ENSMUST00000125912
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133749
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.4%
|
| Validation Efficiency |
97% (58/60) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,306,901 (GRCm39) |
K334R |
probably damaging |
Het |
| Aldh1l1 |
A |
T |
6: 90,573,927 (GRCm39) |
I809F |
possibly damaging |
Het |
| Bmp2k |
T |
A |
5: 97,235,312 (GRCm39) |
|
probably benign |
Het |
| C1qtnf9 |
T |
A |
14: 61,017,198 (GRCm39) |
C243S |
probably damaging |
Het |
| Cacna1c |
G |
A |
6: 119,034,179 (GRCm39) |
A146V |
probably damaging |
Het |
| Ccdc85c |
A |
G |
12: 108,174,109 (GRCm39) |
V353A |
probably damaging |
Het |
| Cd300ld2 |
G |
T |
11: 114,903,270 (GRCm39) |
|
probably benign |
Het |
| Cd320 |
A |
G |
17: 34,067,021 (GRCm39) |
Q170R |
possibly damaging |
Het |
| Cfap43 |
C |
T |
19: 47,726,648 (GRCm39) |
|
probably null |
Het |
| Chid1 |
A |
G |
7: 141,076,059 (GRCm39) |
S365P |
probably damaging |
Het |
| Chrna7 |
T |
G |
7: 62,749,046 (GRCm39) |
T479P |
probably damaging |
Het |
| Clasp1 |
G |
T |
1: 118,425,451 (GRCm39) |
R35L |
probably damaging |
Het |
| Cluh |
G |
A |
11: 74,551,270 (GRCm39) |
R373H |
probably damaging |
Het |
| Cyp2b23 |
G |
A |
7: 26,372,482 (GRCm39) |
R378* |
probably null |
Het |
| Cyp2d9 |
T |
G |
15: 82,338,528 (GRCm39) |
N136K |
probably null |
Het |
| Efcab5 |
A |
T |
11: 77,079,615 (GRCm39) |
S44T |
possibly damaging |
Het |
| Esrrg |
A |
T |
1: 187,930,927 (GRCm39) |
L316F |
possibly damaging |
Het |
| Fam222a |
T |
C |
5: 114,749,889 (GRCm39) |
Y362H |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,910,005 (GRCm39) |
V1999A |
probably damaging |
Het |
| Fes |
A |
T |
7: 80,036,931 (GRCm39) |
M51K |
probably damaging |
Het |
| Fmo3 |
T |
A |
1: 162,781,995 (GRCm39) |
K453* |
probably null |
Het |
| Galnt1 |
A |
G |
18: 24,413,074 (GRCm39) |
N458S |
probably benign |
Het |
| Gm8888 |
T |
A |
15: 96,664,855 (GRCm39) |
|
noncoding transcript |
Het |
| Gpn2 |
G |
A |
4: 133,312,190 (GRCm39) |
|
probably null |
Het |
| Grm4 |
G |
A |
17: 27,657,385 (GRCm39) |
T464I |
probably benign |
Het |
| Insr |
T |
A |
8: 3,205,764 (GRCm39) |
K1342* |
probably null |
Het |
| Krt87 |
T |
A |
15: 101,385,002 (GRCm39) |
K365* |
probably null |
Het |
| Lfng |
T |
C |
5: 140,599,018 (GRCm39) |
L309P |
probably damaging |
Het |
| Lnpk |
T |
C |
2: 74,378,132 (GRCm39) |
|
probably benign |
Het |
| Lrrc8e |
A |
C |
8: 4,285,818 (GRCm39) |
D681A |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,818,707 (GRCm39) |
D1326N |
probably benign |
Het |
| Mmp27 |
A |
G |
9: 7,579,063 (GRCm39) |
R413G |
probably null |
Het |
| Nags |
C |
T |
11: 102,036,773 (GRCm39) |
Q121* |
probably null |
Het |
| Nectin1 |
A |
G |
9: 43,715,090 (GRCm39) |
E442G |
probably benign |
Het |
| Nek1 |
G |
C |
8: 61,542,523 (GRCm39) |
A729P |
probably benign |
Het |
| Or51a24 |
A |
G |
7: 103,733,444 (GRCm39) |
I281T |
possibly damaging |
Het |
| Pnp2 |
C |
T |
14: 51,201,195 (GRCm39) |
A189V |
probably benign |
Het |
| Ppm1m |
T |
A |
9: 106,075,138 (GRCm39) |
I136F |
probably damaging |
Het |
| Pramel21 |
A |
G |
4: 143,342,253 (GRCm39) |
Q120R |
possibly damaging |
Het |
| Psg17 |
G |
T |
7: 18,548,458 (GRCm39) |
Q438K |
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,372,926 (GRCm39) |
R726* |
probably null |
Het |
| Rab3gap2 |
A |
T |
1: 184,967,684 (GRCm39) |
Y163F |
probably benign |
Het |
| Scrib |
A |
T |
15: 75,934,712 (GRCm39) |
L627Q |
possibly damaging |
Het |
| Tcp1 |
A |
G |
17: 13,143,221 (GRCm39) |
K510R |
probably damaging |
Het |
| Tle4 |
A |
T |
19: 14,432,253 (GRCm39) |
I481N |
probably damaging |
Het |
| Tmem43 |
G |
T |
6: 91,455,192 (GRCm39) |
R56L |
possibly damaging |
Het |
| Trmt10a |
T |
C |
3: 137,857,957 (GRCm39) |
I168T |
possibly damaging |
Het |
| Trpv1 |
A |
T |
11: 73,136,809 (GRCm39) |
Y96F |
probably benign |
Het |
| Tshz3 |
C |
T |
7: 36,469,775 (GRCm39) |
T588I |
probably benign |
Het |
| Ugt2b38 |
A |
G |
5: 87,559,702 (GRCm39) |
F397L |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,195,032 (GRCm39) |
S765P |
probably damaging |
Het |
| Zfp668 |
A |
G |
7: 127,466,318 (GRCm39) |
F289L |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,601,640 (GRCm39) |
T195A |
probably benign |
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 |
|
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'- GGTTCTGATGATGCCTAGTAGC -3'
(R):5'- GGGCCTGTAGATGAGACATCTC -3'
Sequencing Primer
(F):5'- AGACCCGATAATGCTGCTG -3'
(R):5'- GAGACATCTCTGGGAAGTTTACCC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation