Incidental Mutation 'R8787:Zscan10'
ID |
670729 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zscan10
|
Ensembl Gene |
ENSMUSG00000023902 |
Gene Name |
zinc finger and SCAN domain containing 10 |
Synonyms |
Zscan10, Zfp206 |
MMRRC Submission |
068633-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.212)
|
Stock # |
R8787 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
23819830-23829993 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23829011 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 518
(S518G)
|
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: S518G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000093255 Gene: ENSMUSG00000023902 AA Change: S518G
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
AA Change: S408G
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000111171 Gene: ENSMUSG00000023902 AA Change: S408G
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: S486G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113386 Gene: ENSMUSG00000023902 AA Change: S486G
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
AA Change: S282G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118987 Gene: ENSMUSG00000023902 AA Change: S282G
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: S441G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000120876 Gene: ENSMUSG00000023902 AA Change: S441G
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (62/63) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
T |
11: 9,225,053 (GRCm39) |
H511Y |
possibly damaging |
Het |
Acp5 |
G |
A |
9: 22,038,489 (GRCm39) |
R271* |
probably null |
Het |
Adamts20 |
A |
T |
15: 94,184,294 (GRCm39) |
V1503E |
possibly damaging |
Het |
Adra2b |
A |
T |
2: 127,206,417 (GRCm39) |
E311D |
probably benign |
Het |
Aldh18a1 |
T |
C |
19: 40,546,230 (GRCm39) |
I556V |
possibly damaging |
Het |
Alox12 |
C |
A |
11: 70,144,146 (GRCm39) |
A116S |
probably benign |
Het |
Alox5 |
G |
T |
6: 116,390,102 (GRCm39) |
A552E |
probably damaging |
Het |
Angpt1 |
G |
T |
15: 42,375,780 (GRCm39) |
L159I |
probably damaging |
Het |
Atp2b4 |
CTT |
CTTTTT |
1: 133,629,485 (GRCm39) |
|
probably benign |
Het |
Bub1b |
T |
A |
2: 118,462,305 (GRCm39) |
L726I |
probably damaging |
Het |
Ccdc78 |
A |
T |
17: 26,006,807 (GRCm39) |
T165S |
probably benign |
Het |
Ccdc88b |
T |
C |
19: 6,824,791 (GRCm39) |
D1323G |
probably damaging |
Het |
Chek1 |
A |
T |
9: 36,625,033 (GRCm39) |
C349* |
probably null |
Het |
Clec1a |
A |
T |
6: 129,428,617 (GRCm39) |
L21Q |
possibly damaging |
Het |
Col1a1 |
T |
C |
11: 94,833,634 (GRCm39) |
V445A |
possibly damaging |
Het |
Efcab7 |
A |
G |
4: 99,757,791 (GRCm39) |
T313A |
probably null |
Het |
Fads1 |
T |
A |
19: 10,170,325 (GRCm39) |
Y288* |
probably null |
Het |
Fgb |
T |
A |
3: 82,953,969 (GRCm39) |
T90S |
probably benign |
Het |
Glg1 |
C |
A |
8: 111,888,114 (GRCm39) |
V1026L |
probably damaging |
Het |
Hadh |
T |
A |
3: 131,027,825 (GRCm39) |
Y313F |
probably damaging |
Het |
Htr4 |
A |
G |
18: 62,570,853 (GRCm39) |
I303V |
possibly damaging |
Het |
Kcnn3 |
A |
G |
3: 89,552,757 (GRCm39) |
D487G |
possibly damaging |
Het |
L1td1 |
G |
A |
4: 98,625,814 (GRCm39) |
V604I |
probably benign |
Het |
Lao1 |
A |
G |
4: 118,825,565 (GRCm39) |
T462A |
probably damaging |
Het |
Lefty1 |
C |
A |
1: 180,764,118 (GRCm39) |
A86E |
probably damaging |
Het |
Lmx1b |
T |
C |
2: 33,529,522 (GRCm39) |
Y79C |
|
Het |
Lrp2 |
A |
G |
2: 69,382,745 (GRCm39) |
C47R |
probably damaging |
Het |
Mrc2 |
A |
T |
11: 105,238,465 (GRCm39) |
N1204I |
probably benign |
Het |
Ncf1 |
A |
C |
5: 134,254,145 (GRCm39) |
Y209* |
probably null |
Het |
Or14j7 |
T |
A |
17: 38,235,075 (GRCm39) |
M206K |
probably benign |
Het |
Or2ad1 |
A |
T |
13: 21,326,453 (GRCm39) |
M258K |
possibly damaging |
Het |
Or8k33 |
G |
A |
2: 86,384,297 (GRCm39) |
T57M |
probably damaging |
Het |
Oxtr |
T |
G |
6: 112,466,871 (GRCm39) |
|
probably benign |
Het |
Pcdhac1 |
T |
C |
18: 37,224,942 (GRCm39) |
V585A |
probably damaging |
Het |
Pdcd11 |
T |
G |
19: 47,097,019 (GRCm39) |
L755R |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,358,461 (GRCm39) |
V2705A |
probably damaging |
Het |
Plch2 |
C |
A |
4: 155,070,875 (GRCm39) |
G1168V |
probably benign |
Het |
Prpf39 |
T |
C |
12: 65,089,555 (GRCm39) |
Y98H |
possibly damaging |
Het |
R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
Rassf10 |
T |
A |
7: 112,554,738 (GRCm39) |
D446E |
probably benign |
Het |
Rgs13 |
T |
C |
1: 144,016,482 (GRCm39) |
Y87C |
probably damaging |
Het |
Serpinb9h |
G |
A |
13: 33,588,204 (GRCm39) |
R263H |
probably benign |
Het |
Smpd3 |
G |
A |
8: 106,982,377 (GRCm39) |
R576C |
probably damaging |
Het |
Spata31e1 |
T |
C |
13: 49,938,704 (GRCm39) |
Y1002C |
probably damaging |
Het |
Srsf11 |
A |
T |
3: 157,718,037 (GRCm39) |
D382E |
unknown |
Het |
Stpg1 |
T |
A |
4: 135,261,108 (GRCm39) |
M306K |
probably benign |
Het |
Svil |
C |
T |
18: 5,059,332 (GRCm39) |
Q696* |
probably null |
Het |
Syna |
C |
T |
5: 134,588,723 (GRCm39) |
M75I |
probably benign |
Het |
Synj2 |
T |
C |
17: 6,036,514 (GRCm39) |
F161S |
possibly damaging |
Het |
Tek |
T |
C |
4: 94,738,037 (GRCm39) |
Y696H |
probably damaging |
Het |
Tgfbr1 |
A |
T |
4: 47,405,555 (GRCm39) |
D386V |
possibly damaging |
Het |
Tgm4 |
G |
T |
9: 122,890,910 (GRCm39) |
G503V |
probably damaging |
Het |
Tnni3k |
T |
C |
3: 154,645,691 (GRCm39) |
E461G |
probably damaging |
Het |
Tom1l1 |
A |
T |
11: 90,561,931 (GRCm39) |
H232Q |
probably benign |
Het |
Ubqln5 |
T |
C |
7: 103,778,329 (GRCm39) |
N165S |
probably benign |
Het |
Vmn1r24 |
G |
A |
6: 57,932,958 (GRCm39) |
L187F |
probably benign |
Het |
Vmn2r82 |
C |
T |
10: 79,213,894 (GRCm39) |
T160I |
probably damaging |
Het |
Vmn2r96 |
G |
T |
17: 18,818,250 (GRCm39) |
G801V |
probably damaging |
Het |
Vps39 |
A |
G |
2: 120,172,506 (GRCm39) |
S176P |
probably damaging |
Het |
Vsig10 |
C |
A |
5: 117,472,981 (GRCm39) |
H191Q |
probably benign |
Het |
Wtap |
G |
A |
17: 13,186,488 (GRCm39) |
S353L |
possibly damaging |
Het |
Zmym4 |
T |
G |
4: 126,816,953 (GRCm39) |
R248S |
probably benign |
Het |
Zscan29 |
A |
T |
2: 120,996,876 (GRCm39) |
Y282N |
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 |
|
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 |
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'- CAGGGAAAGAATCTCACGCC -3'
(R):5'- TCGTCTCACAAAGCGTTTGC -3'
Sequencing Primer
(F):5'- GGGAAAGAATCTCACGCCAAATC -3'
(R):5'- GAGGCTTCTCACCCGTATGAATCTG -3'
|
Posted On |
2021-04-30 |