Incidental Mutation 'R8918:Zscan10'
| ID |
679076 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan10
|
| Ensembl Gene |
ENSMUSG00000023902 |
| Gene Name |
zinc finger and SCAN domain containing 10 |
| Synonyms |
Zscan10, Zfp206 |
| MMRRC Submission |
068705-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.212)
|
| Stock # |
R8918 (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 A
at 23826116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 138
(G138S)
|
| 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 benign
Transcript: ENSMUST00000095595
AA Change: G138S
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000093255
Gene: ENSMUSG00000023902
AA Change: G138S
| 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 benign
Transcript: ENSMUST00000115509
|
| SMART Domains |
Protein: ENSMUSP00000111171
Gene: ENSMUSG00000023902
| 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: G138S
PolyPhen 2
Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113386
Gene: ENSMUSG00000023902
AA Change: G138S
| 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 benign
Transcript: ENSMUST00000129227
|
| SMART Domains |
Protein: ENSMUSP00000118987
Gene: ENSMUSG00000023902
| 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 benign
Transcript: ENSMUST00000148062
AA Change: G93S
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120876
Gene: ENSMUSG00000023902
AA Change: G93S
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,333,315 (GRCm39) |
F480L |
probably damaging |
Het |
| Actr6 |
A |
T |
10: 89,553,057 (GRCm39) |
I267N |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,737,380 (GRCm39) |
S2835P |
unknown |
Het |
| Arfgef3 |
C |
T |
10: 18,511,453 (GRCm39) |
R753Q |
probably benign |
Het |
| Arid3a |
A |
G |
10: 79,784,765 (GRCm39) |
T285A |
probably benign |
Het |
| Atad5 |
T |
C |
11: 79,986,473 (GRCm39) |
V520A |
probably benign |
Het |
| Atoh1 |
T |
G |
6: 64,707,241 (GRCm39) |
L312R |
probably damaging |
Het |
| Brd10 |
T |
C |
19: 29,696,841 (GRCm39) |
K884R |
possibly damaging |
Het |
| Cpt1a |
T |
C |
19: 3,408,258 (GRCm39) |
V179A |
|
Het |
| Crocc2 |
C |
A |
1: 93,129,144 (GRCm39) |
N816K |
possibly damaging |
Het |
| Csf2ra |
A |
T |
19: 61,214,721 (GRCm39) |
V201D |
probably damaging |
Het |
| Dok1 |
C |
T |
6: 83,008,324 (GRCm39) |
V453I |
probably benign |
Het |
| Elp4 |
A |
G |
2: 105,662,600 (GRCm39) |
S175P |
probably benign |
Het |
| Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,748,733 (GRCm39) |
S357N |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,811,246 (GRCm39) |
T1478A |
probably benign |
Het |
| Gabra1 |
A |
G |
11: 42,026,320 (GRCm39) |
F324S |
probably damaging |
Het |
| Gm11437 |
T |
C |
11: 84,043,530 (GRCm39) |
T254A |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,599,706 (GRCm39) |
E726G |
probably damaging |
Het |
| Gstm2 |
A |
T |
3: 107,892,382 (GRCm39) |
C115S |
possibly damaging |
Het |
| Ighv1-12 |
T |
C |
12: 114,579,553 (GRCm39) |
T90A |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,572,703 (GRCm39) |
I690V |
unknown |
Het |
| Kdm3b |
A |
G |
18: 34,970,650 (GRCm39) |
N1739S |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,615,893 (GRCm39) |
N3614K |
|
Het |
| Mapk8ip3 |
A |
G |
17: 25,131,727 (GRCm39) |
L404P |
probably damaging |
Het |
| Mcl1 |
T |
C |
3: 95,567,192 (GRCm39) |
F251S |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,744,579 (GRCm39) |
L4038* |
probably null |
Het |
| Mmp8 |
T |
C |
9: 7,561,485 (GRCm39) |
V163A |
probably benign |
Het |
| Myo18b |
C |
T |
5: 113,022,873 (GRCm39) |
|
probably benign |
Het |
| Ndst1 |
C |
T |
18: 60,825,083 (GRCm39) |
R745H |
probably benign |
Het |
| Or4d2b |
A |
G |
11: 87,780,284 (GRCm39) |
V146A |
probably benign |
Het |
| Or8c18 |
T |
C |
9: 38,203,385 (GRCm39) |
F48S |
probably benign |
Het |
| Pard3 |
C |
T |
8: 128,098,011 (GRCm39) |
R351C |
probably benign |
Het |
| Pcdhgb4 |
A |
G |
18: 37,855,648 (GRCm39) |
D681G |
probably damaging |
Het |
| Pde10a |
G |
A |
17: 9,160,063 (GRCm39) |
A163T |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pelp1 |
A |
G |
11: 70,296,505 (GRCm39) |
L123S |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,906,621 (GRCm39) |
D1152G |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,098 (GRCm39) |
T1015A |
probably benign |
Het |
| Rock2 |
C |
T |
12: 16,990,422 (GRCm39) |
Q115* |
probably null |
Het |
| Rorb |
T |
A |
19: 18,915,356 (GRCm39) |
H434L |
probably damaging |
Het |
| Safb2 |
A |
T |
17: 56,882,975 (GRCm39) |
C219* |
probably null |
Het |
| Sema3a |
A |
G |
5: 13,573,099 (GRCm39) |
H209R |
probably damaging |
Het |
| Serpinb9g |
T |
G |
13: 33,679,131 (GRCm39) |
S334A |
probably benign |
Het |
| Slc5a9 |
T |
A |
4: 111,741,147 (GRCm39) |
M500L |
probably benign |
Het |
| Snap91 |
A |
G |
9: 86,651,611 (GRCm39) |
S810P |
unknown |
Het |
| Spink5 |
G |
T |
18: 44,100,087 (GRCm39) |
A35S |
probably damaging |
Het |
| Stxbp5l |
G |
A |
16: 36,954,892 (GRCm39) |
T887I |
|
Het |
| Tacc2 |
T |
C |
7: 130,227,823 (GRCm39) |
F1503L |
probably benign |
Het |
| Tectb |
A |
G |
19: 55,180,000 (GRCm39) |
E272G |
probably damaging |
Het |
| Trdn |
A |
T |
10: 33,015,117 (GRCm39) |
I24F |
probably benign |
Het |
| Tshr |
G |
A |
12: 91,504,211 (GRCm39) |
S383N |
probably benign |
Het |
| Tspan1 |
C |
A |
4: 116,020,970 (GRCm39) |
C149F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,570,862 (GRCm39) |
L26677Q |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,270,017 (GRCm39) |
F1755I |
possibly damaging |
Het |
| Vps13d |
T |
A |
4: 144,772,873 (GRCm39) |
I4047F |
|
Het |
| Zfp1010 |
A |
C |
2: 176,958,551 (GRCm39) |
S29R |
probably benign |
Het |
| Zfp369 |
T |
A |
13: 65,443,529 (GRCm39) |
L336* |
probably null |
Het |
| Zfp518a |
A |
C |
19: 40,901,870 (GRCm39) |
K600Q |
possibly damaging |
Het |
| Zfp984 |
T |
C |
4: 147,840,623 (GRCm39) |
H76R |
possibly 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 |
|
|
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 |
|
|
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'- CCTTTCAACAGTAGGAAGTACAAGTG -3'
(R):5'- TTGGCCAATTTGAACTGGGG -3'
Sequencing Primer
(F):5'- GTAGACTCTAAAAACGTCCCTTCTG -3'
(R):5'- GGCCAGTCTCCACTCCTCAG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation