Incidental Mutation 'IGL01353:Zscan10'
| ID |
75418 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zscan10
|
| Ensembl Gene |
ENSMUSG00000023902 |
| Gene Name |
zinc finger and SCAN domain containing 10 |
| Synonyms |
Zscan10, Zfp206 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.203)
|
| Stock # |
IGL01353
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
23819830-23829993 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23828574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 295
(H295L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095595]
[ENSMUST00000115509]
[ENSMUST00000117606]
[ENSMUST00000118369]
[ENSMUST00000120967]
[ENSMUST00000122285]
[ENSMUST00000123866]
[ENSMUST00000129227]
[ENSMUST00000148062]
[ENSMUST00000138487]
|
| AlphaFold |
Q3URR7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095595
AA Change: H372L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093255
Gene: ENSMUSG00000023902
AA Change: H372L
| 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: H262L
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000111171
Gene: ENSMUSG00000023902
AA Change: H262L
| 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: H340L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113386
Gene: ENSMUSG00000023902
AA Change: H340L
| 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 damaging
Transcript: ENSMUST00000123866
AA Change: H296L
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116748
Gene: ENSMUSG00000023902
AA Change: H296L
| 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: H136L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118987
Gene: ENSMUSG00000023902
AA Change: H136L
| 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 damaging
Transcript: ENSMUST00000148062
AA Change: H295L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120876
Gene: ENSMUSG00000023902
AA Change: H295L
| 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: ENSMUST00000138487
AA Change: H230L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114341
Gene: ENSMUSG00000023902
AA Change: H230L
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
39 |
148 |
3.37e-34 |
SMART |
|
ZnF_C2H2
|
236 |
258 |
5.59e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125912
|
| Coding Region Coverage |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
T |
11: 94,242,934 (GRCm39) |
V1304E |
possibly damaging |
Het |
| Acr |
T |
C |
15: 89,453,695 (GRCm39) |
L78P |
probably damaging |
Het |
| Adamts12 |
T |
C |
15: 11,292,091 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,906,093 (GRCm39) |
S872P |
probably damaging |
Het |
| Adhfe1 |
T |
A |
1: 9,637,088 (GRCm39) |
N413K |
probably benign |
Het |
| Apoh |
T |
A |
11: 108,288,211 (GRCm39) |
C110S |
probably damaging |
Het |
| Arhgap11a |
A |
G |
2: 113,663,869 (GRCm39) |
F805L |
probably damaging |
Het |
| Bin3 |
C |
T |
14: 70,372,275 (GRCm39) |
L191F |
possibly damaging |
Het |
| Col3a1 |
A |
G |
1: 45,372,798 (GRCm39) |
|
probably benign |
Het |
| Dapp1 |
T |
C |
3: 137,667,241 (GRCm39) |
K107R |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,233,418 (GRCm39) |
V259A |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,150,439 (GRCm39) |
M775V |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,971,397 (GRCm39) |
L1597P |
probably damaging |
Het |
| Elfn2 |
G |
A |
15: 78,556,618 (GRCm39) |
A643V |
possibly damaging |
Het |
| Epha6 |
T |
C |
16: 60,245,258 (GRCm39) |
T314A |
probably damaging |
Het |
| Fn1 |
C |
A |
1: 71,626,098 (GRCm39) |
W2237L |
probably damaging |
Het |
| Foxp4 |
T |
A |
17: 48,199,078 (GRCm39) |
D97V |
probably damaging |
Het |
| Kcnb2 |
C |
A |
1: 15,781,048 (GRCm39) |
T640K |
probably benign |
Het |
| Lypd10 |
G |
T |
7: 24,413,662 (GRCm39) |
S226I |
probably damaging |
Het |
| Miga2 |
G |
A |
2: 30,261,245 (GRCm39) |
|
probably null |
Het |
| Nacad |
T |
A |
11: 6,550,530 (GRCm39) |
Q887L |
possibly damaging |
Het |
| Or2m13 |
C |
T |
16: 19,226,333 (GRCm39) |
M145I |
probably benign |
Het |
| Or4d1 |
T |
C |
11: 87,804,998 (GRCm39) |
I245V |
probably benign |
Het |
| Or7e173 |
T |
C |
9: 19,938,343 (GRCm39) |
N297S |
probably damaging |
Het |
| Or8k24 |
A |
T |
2: 86,216,365 (GRCm39) |
Y132* |
probably null |
Het |
| Otub2 |
A |
T |
12: 103,370,581 (GRCm39) |
M288L |
probably benign |
Het |
| Otud4 |
A |
G |
8: 80,391,650 (GRCm39) |
S432G |
probably benign |
Het |
| Pcca |
G |
A |
14: 122,820,029 (GRCm39) |
V58I |
probably damaging |
Het |
| Pdpr |
T |
A |
8: 111,847,910 (GRCm39) |
|
probably null |
Het |
| Pinx1 |
C |
A |
14: 64,103,564 (GRCm39) |
Q48K |
probably benign |
Het |
| Pkd1l2 |
G |
T |
8: 117,784,182 (GRCm39) |
S698R |
probably benign |
Het |
| Psg29 |
A |
G |
7: 16,938,938 (GRCm39) |
R71G |
possibly damaging |
Het |
| Psmd3 |
T |
A |
11: 98,581,426 (GRCm39) |
V271E |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 109,964,734 (GRCm39) |
N97S |
probably benign |
Het |
| Sulf2 |
C |
T |
2: 165,929,015 (GRCm39) |
G319S |
probably damaging |
Het |
| Tmem67 |
C |
A |
4: 12,079,895 (GRCm39) |
C132F |
probably damaging |
Het |
| Ttll7 |
T |
C |
3: 146,667,474 (GRCm39) |
L780P |
probably damaging |
Het |
| Vmn1r223 |
A |
G |
13: 23,433,426 (GRCm39) |
T7A |
unknown |
Het |
| Vmn1r76 |
T |
G |
7: 11,664,737 (GRCm39) |
H159P |
probably damaging |
Het |
| Vnn1 |
G |
A |
10: 23,776,738 (GRCm39) |
C363Y |
probably damaging |
Het |
| Wdr64 |
T |
G |
1: 175,559,151 (GRCm39) |
L305V |
probably damaging |
Het |
| Zkscan4 |
T |
C |
13: 21,668,518 (GRCm39) |
L323P |
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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation