Incidental Mutation 'R4751:Ank3'
ID |
357610 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ank3
|
Ensembl Gene |
ENSMUSG00000069601 |
Gene Name |
ankyrin 3, epithelial |
Synonyms |
AnkG, Ankyrin-3, Ank-3, Ankyrin-G, 2900054D09Rik |
MMRRC Submission |
041970-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.852)
|
Stock # |
R4751 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
69234608-69863266 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 69822036 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 1518
(A1518V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047061]
[ENSMUST00000054167]
[ENSMUST00000092431]
[ENSMUST00000092432]
[ENSMUST00000092433]
[ENSMUST00000092434]
[ENSMUST00000181974]
[ENSMUST00000182439]
[ENSMUST00000182029]
[ENSMUST00000182437]
[ENSMUST00000182884]
[ENSMUST00000182207]
[ENSMUST00000182692]
[ENSMUST00000182155]
[ENSMUST00000182795]
[ENSMUST00000182269]
[ENSMUST00000182992]
[ENSMUST00000182972]
[ENSMUST00000183169]
[ENSMUST00000183261]
[ENSMUST00000183148]
[ENSMUST00000183074]
[ENSMUST00000183023]
[ENSMUST00000218680]
|
AlphaFold |
G5E8K5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047061
|
SMART Domains |
Protein: ENSMUSP00000045834 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
ZU5
|
56 |
160 |
2.27e-58 |
SMART |
DEATH
|
541 |
635 |
5.8e-33 |
SMART |
low complexity region
|
676 |
696 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000054167
|
SMART Domains |
Protein: ENSMUSP00000061698 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
ANK
|
56 |
85 |
1.01e-5 |
SMART |
ANK
|
89 |
118 |
1.66e-6 |
SMART |
ANK
|
122 |
151 |
1.1e-6 |
SMART |
ANK
|
155 |
183 |
6.51e0 |
SMART |
ANK
|
184 |
213 |
2.6e1 |
SMART |
ANK
|
217 |
246 |
1.31e-4 |
SMART |
ANK
|
250 |
279 |
5.88e-7 |
SMART |
ANK
|
283 |
312 |
3.23e-4 |
SMART |
ANK
|
316 |
345 |
8.07e-5 |
SMART |
ANK
|
349 |
378 |
1.53e-5 |
SMART |
ANK
|
382 |
411 |
3.88e-7 |
SMART |
ANK
|
415 |
444 |
1.99e-4 |
SMART |
ANK
|
448 |
477 |
9.41e-6 |
SMART |
ANK
|
481 |
510 |
1.14e-4 |
SMART |
ANK
|
514 |
543 |
2.94e-7 |
SMART |
ANK
|
547 |
576 |
3.33e-6 |
SMART |
ANK
|
580 |
609 |
4.56e-4 |
SMART |
ANK
|
613 |
642 |
8.19e-6 |
SMART |
ANK
|
646 |
675 |
5.24e-4 |
SMART |
ANK
|
679 |
708 |
6.46e-4 |
SMART |
ANK
|
712 |
741 |
6.21e-6 |
SMART |
ANK
|
745 |
774 |
1.43e-5 |
SMART |
low complexity region
|
802 |
813 |
N/A |
INTRINSIC |
low complexity region
|
867 |
884 |
N/A |
INTRINSIC |
ZU5
|
944 |
1048 |
2.27e-58 |
SMART |
DEATH
|
1429 |
1523 |
5.8e-33 |
SMART |
low complexity region
|
1760 |
1780 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000092431
|
SMART Domains |
Protein: ENSMUSP00000090087 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
ANK
|
56 |
85 |
1.01e-5 |
SMART |
ANK
|
89 |
118 |
1.66e-6 |
SMART |
ANK
|
122 |
151 |
1.1e-6 |
SMART |
ANK
|
155 |
183 |
6.51e0 |
SMART |
ANK
|
184 |
213 |
2.6e1 |
SMART |
ANK
|
217 |
246 |
1.31e-4 |
SMART |
ANK
|
250 |
279 |
5.88e-7 |
SMART |
ANK
|
283 |
312 |
3.23e-4 |
SMART |
ANK
|
316 |
345 |
8.07e-5 |
SMART |
ANK
|
349 |
378 |
1.53e-5 |
SMART |
ANK
|
382 |
411 |
3.88e-7 |
SMART |
ANK
|
415 |
444 |
1.99e-4 |
SMART |
ANK
|
448 |
477 |
9.41e-6 |
SMART |
ANK
|
481 |
510 |
1.14e-4 |
SMART |
ANK
|
514 |
543 |
2.94e-7 |
SMART |
ANK
|
547 |
576 |
3.33e-6 |
SMART |
ANK
|
580 |
609 |
4.56e-4 |
SMART |
ANK
|
613 |
642 |
8.19e-6 |
SMART |
ANK
|
646 |
675 |
5.24e-4 |
SMART |
ANK
|
679 |
708 |
6.46e-4 |
SMART |
ANK
|
712 |
741 |
6.21e-6 |
SMART |
ANK
|
745 |
774 |
1.43e-5 |
SMART |
low complexity region
|
802 |
813 |
N/A |
INTRINSIC |
low complexity region
|
885 |
902 |
N/A |
INTRINSIC |
ZU5
|
962 |
1066 |
2.27e-58 |
SMART |
DEATH
|
1447 |
1541 |
5.8e-33 |
SMART |
low complexity region
|
1778 |
1798 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000092432
|
SMART Domains |
Protein: ENSMUSP00000090088 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
ANK
|
56 |
85 |
1.01e-5 |
SMART |
ANK
|
89 |
118 |
1.66e-6 |
SMART |
ANK
|
122 |
151 |
1.1e-6 |
SMART |
ANK
|
155 |
183 |
6.51e0 |
SMART |
ANK
|
184 |
213 |
2.6e1 |
SMART |
ANK
|
217 |
246 |
1.31e-4 |
SMART |
ANK
|
250 |
279 |
5.88e-7 |
SMART |
ANK
|
283 |
312 |
3.23e-4 |
SMART |
ANK
|
316 |
345 |
8.07e-5 |
SMART |
ANK
|
349 |
378 |
1.53e-5 |
SMART |
ANK
|
382 |
411 |
3.88e-7 |
SMART |
ANK
|
415 |
444 |
1.99e-4 |
SMART |
ANK
|
448 |
477 |
9.41e-6 |
SMART |
ANK
|
481 |
510 |
1.14e-4 |
SMART |
ANK
|
514 |
543 |
2.94e-7 |
SMART |
ANK
|
547 |
576 |
3.33e-6 |
SMART |
ANK
|
580 |
609 |
4.56e-4 |
SMART |
ANK
|
613 |
642 |
8.19e-6 |
SMART |
ANK
|
646 |
675 |
5.24e-4 |
SMART |
ANK
|
679 |
708 |
6.46e-4 |
SMART |
ANK
|
712 |
741 |
6.21e-6 |
SMART |
ANK
|
745 |
774 |
1.43e-5 |
SMART |
low complexity region
|
802 |
813 |
N/A |
INTRINSIC |
low complexity region
|
888 |
905 |
N/A |
INTRINSIC |
ZU5
|
965 |
1069 |
2.27e-58 |
SMART |
DEATH
|
1450 |
1544 |
5.8e-33 |
SMART |
low complexity region
|
1781 |
1801 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000092433
|
SMART Domains |
Protein: ENSMUSP00000090089 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
56 |
N/A |
INTRINSIC |
ZU5
|
116 |
220 |
2.27e-58 |
SMART |
DEATH
|
601 |
695 |
5.8e-33 |
SMART |
low complexity region
|
932 |
952 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000092434
|
SMART Domains |
Protein: ENSMUSP00000090090 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
ANK
|
56 |
85 |
6.5e-8 |
SMART |
ANK
|
89 |
118 |
1.1e-8 |
SMART |
ANK
|
122 |
151 |
7.1e-9 |
SMART |
ANK
|
155 |
183 |
4.2e-2 |
SMART |
ANK
|
184 |
213 |
1.7e-1 |
SMART |
ANK
|
217 |
246 |
8.4e-7 |
SMART |
ANK
|
250 |
279 |
3.8e-9 |
SMART |
ANK
|
283 |
312 |
2.1e-6 |
SMART |
ANK
|
316 |
345 |
5.3e-7 |
SMART |
ANK
|
349 |
378 |
9.9e-8 |
SMART |
ANK
|
382 |
411 |
2.5e-9 |
SMART |
ANK
|
415 |
444 |
1.3e-6 |
SMART |
ANK
|
448 |
477 |
6e-8 |
SMART |
ANK
|
481 |
510 |
7.4e-7 |
SMART |
ANK
|
514 |
543 |
1.9e-9 |
SMART |
ANK
|
547 |
576 |
2.2e-8 |
SMART |
ANK
|
580 |
609 |
3e-6 |
SMART |
ANK
|
613 |
642 |
5.4e-8 |
SMART |
ANK
|
646 |
675 |
3.3e-6 |
SMART |
ANK
|
679 |
708 |
4.3e-6 |
SMART |
ANK
|
712 |
741 |
3.9e-8 |
SMART |
ANK
|
745 |
774 |
9.1e-8 |
SMART |
low complexity region
|
802 |
813 |
N/A |
INTRINSIC |
low complexity region
|
906 |
923 |
N/A |
INTRINSIC |
ZU5
|
983 |
1087 |
1.1e-60 |
SMART |
DEATH
|
1468 |
1562 |
3.8e-35 |
SMART |
low complexity region
|
1799 |
1819 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181974
|
SMART Domains |
Protein: ENSMUSP00000138285 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
56 |
N/A |
INTRINSIC |
ZU5
|
116 |
220 |
2.27e-58 |
SMART |
DEATH
|
601 |
695 |
5.8e-33 |
SMART |
low complexity region
|
736 |
756 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182762
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182474
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182606
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182687
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182439
|
SMART Domains |
Protein: ENSMUSP00000138356 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
ZU5
|
56 |
160 |
2.27e-58 |
SMART |
DEATH
|
541 |
635 |
5.8e-33 |
SMART |
low complexity region
|
676 |
696 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182029
|
SMART Domains |
Protein: ENSMUSP00000138337 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
56 |
N/A |
INTRINSIC |
ZU5
|
116 |
220 |
2.27e-58 |
SMART |
DEATH
|
601 |
695 |
5.8e-33 |
SMART |
low complexity region
|
932 |
952 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182437
|
SMART Domains |
Protein: ENSMUSP00000138586 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
ZU5
|
115 |
219 |
2.27e-58 |
SMART |
DEATH
|
588 |
682 |
7.66e-33 |
SMART |
low complexity region
|
723 |
743 |
N/A |
INTRINSIC |
low complexity region
|
869 |
878 |
N/A |
INTRINSIC |
low complexity region
|
880 |
892 |
N/A |
INTRINSIC |
low complexity region
|
918 |
930 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182884
|
SMART Domains |
Protein: ENSMUSP00000138326 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
ANK
|
56 |
85 |
6.4e-8 |
SMART |
ANK
|
89 |
118 |
1.1e-8 |
SMART |
ANK
|
122 |
151 |
7e-9 |
SMART |
ANK
|
155 |
183 |
4.1e-2 |
SMART |
ANK
|
184 |
213 |
1.7e-1 |
SMART |
ANK
|
217 |
246 |
8.2e-7 |
SMART |
ANK
|
250 |
279 |
3.7e-9 |
SMART |
ANK
|
283 |
312 |
2.1e-6 |
SMART |
ANK
|
316 |
345 |
5.2e-7 |
SMART |
ANK
|
349 |
378 |
9.7e-8 |
SMART |
ANK
|
382 |
411 |
2.4e-9 |
SMART |
ANK
|
415 |
444 |
1.3e-6 |
SMART |
ANK
|
448 |
477 |
5.9e-8 |
SMART |
ANK
|
481 |
510 |
7.3e-7 |
SMART |
ANK
|
514 |
543 |
1.9e-9 |
SMART |
ANK
|
547 |
576 |
2.1e-8 |
SMART |
ANK
|
580 |
609 |
2.9e-6 |
SMART |
ANK
|
613 |
642 |
5.3e-8 |
SMART |
ANK
|
646 |
675 |
3.2e-6 |
SMART |
ANK
|
679 |
708 |
4.2e-6 |
SMART |
ANK
|
712 |
741 |
3.9e-8 |
SMART |
ANK
|
745 |
774 |
8.9e-8 |
SMART |
low complexity region
|
802 |
813 |
N/A |
INTRINSIC |
low complexity region
|
906 |
923 |
N/A |
INTRINSIC |
ZU5
|
983 |
1087 |
1.1e-60 |
SMART |
DEATH
|
1468 |
1562 |
3.7e-35 |
SMART |
low complexity region
|
1799 |
1819 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182665
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182207
|
SMART Domains |
Protein: ENSMUSP00000138531 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
DEATH
|
59 |
153 |
5.8e-33 |
SMART |
low complexity region
|
297 |
317 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182692
|
SMART Domains |
Protein: ENSMUSP00000138623 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
56 |
N/A |
INTRINSIC |
ZU5
|
116 |
220 |
2.27e-58 |
SMART |
DEATH
|
601 |
695 |
5.8e-33 |
SMART |
low complexity region
|
839 |
859 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182155
|
SMART Domains |
Protein: ENSMUSP00000138347 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
ANK
|
56 |
85 |
1.01e-5 |
SMART |
ANK
|
89 |
118 |
1.66e-6 |
SMART |
ANK
|
122 |
151 |
1.1e-6 |
SMART |
ANK
|
155 |
183 |
6.51e0 |
SMART |
ANK
|
184 |
213 |
2.6e1 |
SMART |
ANK
|
217 |
246 |
1.31e-4 |
SMART |
ANK
|
250 |
279 |
5.88e-7 |
SMART |
ANK
|
283 |
312 |
3.23e-4 |
SMART |
ANK
|
316 |
345 |
8.07e-5 |
SMART |
ANK
|
349 |
378 |
1.53e-5 |
SMART |
ANK
|
382 |
411 |
3.88e-7 |
SMART |
ANK
|
415 |
444 |
1.99e-4 |
SMART |
ANK
|
448 |
477 |
9.41e-6 |
SMART |
ANK
|
481 |
510 |
1.14e-4 |
SMART |
ANK
|
514 |
543 |
2.94e-7 |
SMART |
ANK
|
547 |
576 |
3.33e-6 |
SMART |
ANK
|
580 |
609 |
4.56e-4 |
SMART |
ANK
|
613 |
642 |
8.19e-6 |
SMART |
ANK
|
646 |
675 |
5.24e-4 |
SMART |
ANK
|
679 |
708 |
6.46e-4 |
SMART |
ANK
|
712 |
741 |
6.21e-6 |
SMART |
ANK
|
745 |
774 |
1.43e-5 |
SMART |
low complexity region
|
802 |
813 |
N/A |
INTRINSIC |
low complexity region
|
867 |
884 |
N/A |
INTRINSIC |
ZU5
|
944 |
1048 |
2.27e-58 |
SMART |
DEATH
|
1429 |
1523 |
5.8e-33 |
SMART |
low complexity region
|
1564 |
1584 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182795
|
SMART Domains |
Protein: ENSMUSP00000138413 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
ZU5
|
111 |
215 |
2.27e-58 |
SMART |
DEATH
|
584 |
678 |
7.66e-33 |
SMART |
low complexity region
|
719 |
739 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182269
|
SMART Domains |
Protein: ENSMUSP00000138123 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
ZU5
|
115 |
219 |
2.27e-58 |
SMART |
DEATH
|
588 |
682 |
7.66e-33 |
SMART |
low complexity region
|
723 |
743 |
N/A |
INTRINSIC |
low complexity region
|
886 |
895 |
N/A |
INTRINSIC |
low complexity region
|
897 |
909 |
N/A |
INTRINSIC |
low complexity region
|
935 |
947 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000186247
AA Change: A235V
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182992
AA Change: A1518V
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000138686 Gene: ENSMUSG00000069601 AA Change: A1518V
Domain | Start | End | E-Value | Type |
coiled coil region
|
4 |
38 |
N/A |
INTRINSIC |
ANK
|
73 |
102 |
1.01e-5 |
SMART |
ANK
|
106 |
135 |
1.66e-6 |
SMART |
ANK
|
139 |
168 |
1.1e-6 |
SMART |
ANK
|
172 |
200 |
6.51e0 |
SMART |
ANK
|
201 |
230 |
2.6e1 |
SMART |
ANK
|
242 |
271 |
1.31e-4 |
SMART |
ANK
|
275 |
304 |
5.88e-7 |
SMART |
ANK
|
308 |
337 |
3.23e-4 |
SMART |
ANK
|
341 |
370 |
8.07e-5 |
SMART |
ANK
|
374 |
403 |
1.53e-5 |
SMART |
ANK
|
407 |
436 |
3.88e-7 |
SMART |
ANK
|
440 |
469 |
1.99e-4 |
SMART |
ANK
|
473 |
502 |
9.41e-6 |
SMART |
ANK
|
506 |
535 |
1.14e-4 |
SMART |
ANK
|
539 |
568 |
2.94e-7 |
SMART |
ANK
|
572 |
601 |
3.33e-6 |
SMART |
ANK
|
605 |
634 |
4.56e-4 |
SMART |
ANK
|
638 |
667 |
8.19e-6 |
SMART |
ANK
|
671 |
700 |
5.24e-4 |
SMART |
ANK
|
704 |
733 |
6.46e-4 |
SMART |
ANK
|
737 |
766 |
6.21e-6 |
SMART |
ANK
|
770 |
799 |
1.43e-5 |
SMART |
low complexity region
|
827 |
838 |
N/A |
INTRINSIC |
low complexity region
|
913 |
930 |
N/A |
INTRINSIC |
ZU5
|
990 |
1094 |
2.27e-58 |
SMART |
low complexity region
|
1515 |
1536 |
N/A |
INTRINSIC |
low complexity region
|
1745 |
1762 |
N/A |
INTRINSIC |
low complexity region
|
1805 |
1827 |
N/A |
INTRINSIC |
low complexity region
|
1876 |
1897 |
N/A |
INTRINSIC |
low complexity region
|
1969 |
1984 |
N/A |
INTRINSIC |
DEATH
|
2325 |
2419 |
7.66e-33 |
SMART |
low complexity region
|
2460 |
2480 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183082
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182972
|
SMART Domains |
Protein: ENSMUSP00000138481 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
ANK
|
4 |
33 |
1.43e-5 |
SMART |
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
low complexity region
|
126 |
143 |
N/A |
INTRINSIC |
ZU5
|
203 |
307 |
2.27e-58 |
SMART |
DEATH
|
688 |
782 |
5.8e-33 |
SMART |
low complexity region
|
1019 |
1039 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183169
|
SMART Domains |
Protein: ENSMUSP00000138348 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
ANK
|
56 |
85 |
1.01e-5 |
SMART |
ANK
|
89 |
118 |
1.66e-6 |
SMART |
ANK
|
122 |
151 |
1.1e-6 |
SMART |
ANK
|
155 |
183 |
6.51e0 |
SMART |
ANK
|
184 |
213 |
2.6e1 |
SMART |
ANK
|
217 |
246 |
1.31e-4 |
SMART |
ANK
|
250 |
279 |
5.88e-7 |
SMART |
ANK
|
283 |
312 |
3.23e-4 |
SMART |
ANK
|
316 |
345 |
8.07e-5 |
SMART |
ANK
|
349 |
378 |
1.53e-5 |
SMART |
ANK
|
382 |
411 |
3.88e-7 |
SMART |
ANK
|
415 |
444 |
1.99e-4 |
SMART |
ANK
|
448 |
477 |
9.41e-6 |
SMART |
ANK
|
481 |
510 |
1.14e-4 |
SMART |
ANK
|
514 |
543 |
2.94e-7 |
SMART |
ANK
|
547 |
576 |
3.33e-6 |
SMART |
ANK
|
580 |
609 |
4.56e-4 |
SMART |
ANK
|
613 |
642 |
8.19e-6 |
SMART |
ANK
|
646 |
675 |
5.24e-4 |
SMART |
ANK
|
679 |
708 |
6.46e-4 |
SMART |
ANK
|
712 |
741 |
6.21e-6 |
SMART |
ANK
|
745 |
774 |
1.43e-5 |
SMART |
low complexity region
|
802 |
813 |
N/A |
INTRINSIC |
ZU5
|
943 |
1047 |
2.27e-58 |
SMART |
DEATH
|
1416 |
1510 |
7.66e-33 |
SMART |
low complexity region
|
1551 |
1571 |
N/A |
INTRINSIC |
low complexity region
|
1715 |
1724 |
N/A |
INTRINSIC |
low complexity region
|
1726 |
1738 |
N/A |
INTRINSIC |
low complexity region
|
1764 |
1776 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183261
|
SMART Domains |
Protein: ENSMUSP00000138095 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
ZU5
|
115 |
219 |
2.27e-58 |
SMART |
DEATH
|
588 |
682 |
7.66e-33 |
SMART |
low complexity region
|
919 |
939 |
N/A |
INTRINSIC |
low complexity region
|
1082 |
1091 |
N/A |
INTRINSIC |
low complexity region
|
1093 |
1105 |
N/A |
INTRINSIC |
low complexity region
|
1131 |
1143 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183148
|
SMART Domains |
Protein: ENSMUSP00000138770 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
ANK
|
56 |
85 |
1.01e-5 |
SMART |
ANK
|
89 |
118 |
1.66e-6 |
SMART |
ANK
|
122 |
151 |
1.1e-6 |
SMART |
ANK
|
155 |
183 |
6.51e0 |
SMART |
ANK
|
184 |
213 |
2.6e1 |
SMART |
ANK
|
217 |
246 |
1.31e-4 |
SMART |
ANK
|
250 |
279 |
5.88e-7 |
SMART |
ANK
|
283 |
312 |
3.23e-4 |
SMART |
ANK
|
316 |
345 |
8.07e-5 |
SMART |
ANK
|
349 |
378 |
1.53e-5 |
SMART |
ANK
|
382 |
411 |
3.88e-7 |
SMART |
ANK
|
415 |
444 |
1.99e-4 |
SMART |
ANK
|
448 |
477 |
9.41e-6 |
SMART |
ANK
|
481 |
510 |
1.14e-4 |
SMART |
ANK
|
514 |
543 |
2.94e-7 |
SMART |
ANK
|
547 |
576 |
3.33e-6 |
SMART |
ANK
|
580 |
609 |
4.56e-4 |
SMART |
ANK
|
613 |
642 |
8.19e-6 |
SMART |
ANK
|
646 |
675 |
5.24e-4 |
SMART |
ANK
|
679 |
708 |
6.46e-4 |
SMART |
ANK
|
712 |
741 |
6.21e-6 |
SMART |
ANK
|
745 |
774 |
1.43e-5 |
SMART |
low complexity region
|
802 |
813 |
N/A |
INTRINSIC |
ZU5
|
943 |
1047 |
2.27e-58 |
SMART |
DEATH
|
1416 |
1510 |
7.66e-33 |
SMART |
low complexity region
|
1747 |
1767 |
N/A |
INTRINSIC |
low complexity region
|
1893 |
1902 |
N/A |
INTRINSIC |
low complexity region
|
1904 |
1916 |
N/A |
INTRINSIC |
low complexity region
|
1942 |
1954 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183074
|
SMART Domains |
Protein: ENSMUSP00000138671 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
ZU5
|
115 |
219 |
2.27e-58 |
SMART |
DEATH
|
588 |
682 |
7.66e-33 |
SMART |
low complexity region
|
919 |
939 |
N/A |
INTRINSIC |
low complexity region
|
1065 |
1074 |
N/A |
INTRINSIC |
low complexity region
|
1076 |
1088 |
N/A |
INTRINSIC |
low complexity region
|
1114 |
1126 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183023
|
SMART Domains |
Protein: ENSMUSP00000138450 Gene: ENSMUSG00000069601
Domain | Start | End | E-Value | Type |
DEATH
|
260 |
354 |
7.66e-33 |
SMART |
low complexity region
|
395 |
415 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218680
|
Meta Mutation Damage Score |
0.0611 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
95% (124/131) |
MGI Phenotype |
FUNCTION: This gene encodes a member of the ankyrin protein family. Ankyrins link integral membrane proteins to the spectrin-based cytoskeleton. Ankyrin family members share a protein structure which includes three independently folded domains: the N-terminal ankyrin repeat domain, the central spectrin-binding domain, and the C-terminal rod domain. This ankyrin functions as the major ankyrin in the kidney and may play a role in the polarized distribution of many integral membrane proteins to specific subcellular sites. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for a mutation that selectively ablates gene expression in brain exhibit progressive ataxia, tremors, and a substantially reduced cerebellum deficient in Purkinje cells. Mutants are poor breeders and die by 4-6 months. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 115 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
A |
T |
7: 127,836,258 (GRCm39) |
C112S |
probably benign |
Het |
Abca13 |
G |
A |
11: 9,227,973 (GRCm39) |
|
probably null |
Het |
Abca14 |
A |
G |
7: 119,911,400 (GRCm39) |
E1328G |
probably benign |
Het |
Abca9 |
T |
A |
11: 110,021,396 (GRCm39) |
I1105F |
probably benign |
Het |
Abr |
T |
C |
11: 76,347,434 (GRCm39) |
N396D |
possibly damaging |
Het |
Aftph |
A |
C |
11: 20,677,074 (GRCm39) |
C178W |
probably damaging |
Het |
Akr1c14 |
T |
C |
13: 4,115,338 (GRCm39) |
F89S |
possibly damaging |
Het |
Arfgap2 |
T |
G |
2: 91,097,713 (GRCm39) |
S143R |
probably benign |
Het |
Aspdh |
T |
A |
7: 44,116,629 (GRCm39) |
C107* |
probably null |
Het |
Asphd2 |
C |
A |
5: 112,539,612 (GRCm39) |
G74W |
probably damaging |
Het |
AU040320 |
G |
A |
4: 126,748,259 (GRCm39) |
|
probably null |
Het |
B3glct |
T |
A |
5: 149,648,867 (GRCm39) |
|
probably null |
Het |
Bcl9l |
A |
G |
9: 44,418,100 (GRCm39) |
K646R |
probably damaging |
Het |
Brat1 |
T |
G |
5: 140,704,051 (GRCm39) |
L768R |
probably damaging |
Het |
Btbd18 |
T |
A |
2: 84,498,265 (GRCm39) |
Y634* |
probably null |
Het |
Bub1 |
T |
A |
2: 127,665,858 (GRCm39) |
|
probably benign |
Het |
Carns1 |
A |
T |
19: 4,216,417 (GRCm39) |
D588E |
probably damaging |
Het |
Cast |
T |
C |
13: 74,894,166 (GRCm39) |
K141E |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Chsy3 |
T |
C |
18: 59,308,872 (GRCm39) |
S42P |
possibly damaging |
Het |
Clca3a1 |
A |
T |
3: 144,710,609 (GRCm39) |
F865I |
possibly damaging |
Het |
Clec4f |
T |
A |
6: 83,622,264 (GRCm39) |
M526L |
possibly damaging |
Het |
Clnk |
T |
C |
5: 38,878,256 (GRCm39) |
E301G |
probably benign |
Het |
Colgalt2 |
T |
A |
1: 152,365,627 (GRCm39) |
I309N |
probably benign |
Het |
Cyp2e1 |
A |
T |
7: 140,354,629 (GRCm39) |
K326* |
probably null |
Het |
Dagla |
T |
A |
19: 10,227,758 (GRCm39) |
T717S |
probably benign |
Het |
Dnajc11 |
G |
A |
4: 152,052,999 (GRCm39) |
R141H |
probably benign |
Het |
Dst |
A |
G |
1: 34,230,965 (GRCm39) |
K2853E |
probably benign |
Het |
Eif4g1 |
A |
G |
16: 20,505,265 (GRCm39) |
K1208E |
possibly damaging |
Het |
Elane |
A |
G |
10: 79,722,625 (GRCm39) |
R48G |
probably benign |
Het |
Fbxo30 |
T |
A |
10: 11,165,939 (GRCm39) |
N220K |
probably benign |
Het |
Fbxo33 |
A |
T |
12: 59,247,714 (GRCm39) |
|
probably benign |
Het |
Fetub |
G |
A |
16: 22,756,645 (GRCm39) |
V169I |
probably benign |
Het |
Gpx6 |
A |
C |
13: 21,501,234 (GRCm39) |
Q107H |
probably damaging |
Het |
H2bc18 |
A |
T |
3: 96,176,467 (GRCm39) |
|
probably benign |
Het |
Homer3 |
A |
T |
8: 70,738,084 (GRCm39) |
I19F |
probably damaging |
Het |
Hspa4 |
C |
T |
11: 53,175,026 (GRCm39) |
V144I |
probably benign |
Het |
Icos |
C |
T |
1: 61,032,876 (GRCm39) |
S25L |
probably benign |
Het |
Ifna4 |
A |
G |
4: 88,760,185 (GRCm39) |
T30A |
probably benign |
Het |
Ino80b |
C |
T |
6: 83,101,731 (GRCm39) |
G46D |
probably damaging |
Het |
Kpna2 |
T |
G |
11: 106,883,490 (GRCm39) |
I100L |
possibly damaging |
Het |
Krt71 |
C |
T |
15: 101,643,901 (GRCm39) |
G446R |
probably damaging |
Het |
Krtap31-2 |
A |
G |
11: 99,827,402 (GRCm39) |
N78S |
possibly damaging |
Het |
Lman1 |
A |
G |
18: 66,131,505 (GRCm39) |
S132P |
probably benign |
Het |
Lmna |
T |
C |
3: 88,393,840 (GRCm39) |
Q246R |
possibly damaging |
Het |
Lrp10 |
T |
A |
14: 54,706,049 (GRCm39) |
V413E |
probably damaging |
Het |
Macf1 |
A |
C |
4: 123,365,443 (GRCm39) |
I1541S |
probably benign |
Het |
Med24 |
A |
G |
11: 98,597,258 (GRCm39) |
L874P |
probably damaging |
Het |
Mgll |
T |
A |
6: 88,702,093 (GRCm39) |
|
probably benign |
Het |
Mrpl37 |
A |
T |
4: 106,914,672 (GRCm39) |
L364Q |
probably damaging |
Het |
Mrpl47 |
C |
T |
3: 32,782,590 (GRCm39) |
R209H |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,371,338 (GRCm39) |
F3285L |
probably benign |
Het |
Mylk |
A |
G |
16: 34,699,539 (GRCm39) |
R301G |
probably benign |
Het |
Nacad |
A |
G |
11: 6,555,726 (GRCm39) |
L8P |
unknown |
Het |
Ncf1 |
T |
A |
5: 134,258,399 (GRCm39) |
H8L |
probably damaging |
Het |
Ncoa3 |
T |
A |
2: 165,911,823 (GRCm39) |
M1383K |
possibly damaging |
Het |
Necab2 |
C |
T |
8: 120,194,337 (GRCm39) |
S271L |
probably benign |
Het |
Nme8 |
A |
T |
13: 19,859,808 (GRCm39) |
|
probably null |
Het |
Nsrp1 |
T |
G |
11: 76,967,545 (GRCm39) |
T16P |
possibly damaging |
Het |
Obox3 |
A |
T |
7: 15,359,617 (GRCm39) |
|
probably null |
Het |
Or1l8 |
T |
C |
2: 36,817,595 (GRCm39) |
H177R |
probably damaging |
Het |
Or4c108 |
A |
G |
2: 88,803,477 (GRCm39) |
C253R |
probably damaging |
Het |
Or4c15 |
T |
A |
2: 88,760,258 (GRCm39) |
I134F |
probably damaging |
Het |
Or4d6 |
T |
A |
19: 12,086,541 (GRCm39) |
Y123F |
probably damaging |
Het |
Or52n2b |
A |
T |
7: 104,565,617 (GRCm39) |
Y295* |
probably null |
Het |
Or6b2 |
C |
A |
1: 92,407,705 (GRCm39) |
A213S |
probably benign |
Het |
Osbpl3 |
C |
G |
6: 50,277,977 (GRCm39) |
E790Q |
possibly damaging |
Het |
Osmr |
A |
T |
15: 6,872,333 (GRCm39) |
W254R |
probably damaging |
Het |
Otoa |
T |
C |
7: 120,732,147 (GRCm39) |
|
probably benign |
Het |
Pagr1a |
A |
T |
7: 126,614,551 (GRCm39) |
L218H |
probably damaging |
Het |
Pcdha11 |
G |
A |
18: 37,139,997 (GRCm39) |
G542D |
probably damaging |
Het |
Pck2 |
T |
A |
14: 55,780,018 (GRCm39) |
I54N |
probably damaging |
Het |
Ppif |
T |
C |
14: 25,699,923 (GRCm39) |
V173A |
probably damaging |
Het |
Ptgs2 |
T |
A |
1: 149,979,771 (GRCm39) |
L292H |
probably damaging |
Het |
Ptpru |
A |
G |
4: 131,529,897 (GRCm39) |
S604P |
probably damaging |
Het |
Qrfpr |
T |
C |
3: 36,236,771 (GRCm39) |
H210R |
possibly damaging |
Het |
Rasgrf1 |
A |
G |
9: 89,792,171 (GRCm39) |
T41A |
probably damaging |
Het |
Rasgrf1 |
A |
G |
9: 89,894,919 (GRCm39) |
H1113R |
probably damaging |
Het |
Rhoc |
T |
A |
3: 104,699,963 (GRCm39) |
I80N |
probably damaging |
Het |
Riok3 |
A |
G |
18: 12,287,040 (GRCm39) |
N472S |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,336,571 (GRCm39) |
Y3314C |
probably benign |
Het |
Shank2 |
C |
T |
7: 143,963,205 (GRCm39) |
T264I |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Sipa1l1 |
A |
G |
12: 82,387,968 (GRCm39) |
I65V |
probably benign |
Het |
Slc22a19 |
T |
C |
19: 7,668,510 (GRCm39) |
K291R |
possibly damaging |
Het |
Slc22a20 |
T |
C |
19: 6,030,488 (GRCm39) |
I315V |
probably benign |
Het |
Slc44a1 |
A |
T |
4: 53,560,973 (GRCm39) |
D563V |
probably damaging |
Het |
Smchd1 |
A |
T |
17: 71,698,463 (GRCm39) |
H1104Q |
probably benign |
Het |
Spcs2 |
A |
T |
7: 99,493,976 (GRCm39) |
|
probably null |
Het |
Speer1e |
T |
A |
5: 11,236,458 (GRCm39) |
Y138N |
probably damaging |
Het |
Sptb |
T |
C |
12: 76,673,884 (GRCm39) |
E301G |
probably benign |
Het |
Stum |
T |
C |
1: 180,270,234 (GRCm39) |
D86G |
probably damaging |
Het |
Sufu |
A |
T |
19: 46,472,088 (GRCm39) |
D449V |
probably benign |
Het |
Sun5 |
T |
C |
2: 153,707,936 (GRCm39) |
|
probably null |
Het |
Tbc1d15 |
T |
A |
10: 115,038,492 (GRCm39) |
I574F |
probably damaging |
Het |
Tert |
G |
A |
13: 73,776,182 (GRCm39) |
S311N |
possibly damaging |
Het |
Tiparp |
T |
C |
3: 65,460,225 (GRCm39) |
Y507H |
probably damaging |
Het |
Tnk2 |
T |
C |
16: 32,498,675 (GRCm39) |
C158R |
probably damaging |
Het |
Tpgs1 |
T |
C |
10: 79,511,454 (GRCm39) |
S199P |
possibly damaging |
Het |
Trdmt1 |
G |
T |
2: 13,549,464 (GRCm39) |
|
probably benign |
Het |
Trp53bp1 |
T |
A |
2: 121,058,290 (GRCm39) |
D944V |
probably damaging |
Het |
Tsc1 |
T |
A |
2: 28,569,093 (GRCm39) |
I720N |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,539,949 (GRCm39) |
T34346A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,727,925 (GRCm39) |
|
probably benign |
Het |
Uba7 |
T |
A |
9: 107,857,004 (GRCm39) |
C686S |
possibly damaging |
Het |
Ush2a |
T |
A |
1: 188,582,284 (GRCm39) |
F3782L |
probably damaging |
Het |
Vars2 |
A |
T |
17: 35,970,235 (GRCm39) |
H745Q |
possibly damaging |
Het |
Vgf |
T |
A |
5: 137,061,255 (GRCm39) |
D472E |
probably damaging |
Het |
Vmn2r15 |
T |
C |
5: 109,434,620 (GRCm39) |
M695V |
probably benign |
Het |
Vps41 |
A |
T |
13: 18,995,792 (GRCm39) |
D208V |
probably damaging |
Het |
Vta1 |
C |
T |
10: 14,531,560 (GRCm39) |
A272T |
probably benign |
Het |
Wnk4 |
G |
A |
11: 101,167,188 (GRCm39) |
|
probably benign |
Het |
Zfp507 |
T |
C |
7: 35,493,807 (GRCm39) |
K412R |
probably damaging |
Het |
Zfp768 |
A |
G |
7: 126,943,934 (GRCm39) |
F65L |
possibly damaging |
Het |
Zfp956 |
T |
C |
6: 47,940,510 (GRCm39) |
S290P |
probably benign |
Het |
|
Other mutations in Ank3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00514:Ank3
|
APN |
10 |
69,818,035 (GRCm39) |
splice site |
probably benign |
|
IGL00578:Ank3
|
APN |
10 |
69,838,224 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL00851:Ank3
|
APN |
10 |
69,710,663 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01067:Ank3
|
APN |
10 |
69,686,026 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01483:Ank3
|
APN |
10 |
69,710,639 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01549:Ank3
|
APN |
10 |
69,768,250 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01576:Ank3
|
APN |
10 |
69,816,121 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01601:Ank3
|
APN |
10 |
69,840,555 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02047:Ank3
|
APN |
10 |
69,728,324 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02088:Ank3
|
APN |
10 |
69,835,203 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02159:Ank3
|
APN |
10 |
69,644,722 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02249:Ank3
|
APN |
10 |
69,718,200 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02942:Ank3
|
APN |
10 |
69,809,707 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02979:Ank3
|
APN |
10 |
69,837,929 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03379:Ank3
|
APN |
10 |
69,809,602 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4495001:Ank3
|
UTSW |
10 |
69,828,902 (GRCm39) |
missense |
|
|
R0011:Ank3
|
UTSW |
10 |
69,815,281 (GRCm39) |
splice site |
probably benign |
|
R0011:Ank3
|
UTSW |
10 |
69,815,281 (GRCm39) |
splice site |
probably benign |
|
R0172:Ank3
|
UTSW |
10 |
69,811,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R0315:Ank3
|
UTSW |
10 |
69,838,347 (GRCm39) |
missense |
probably damaging |
0.98 |
R0480:Ank3
|
UTSW |
10 |
69,715,756 (GRCm39) |
missense |
probably damaging |
0.96 |
R0485:Ank3
|
UTSW |
10 |
69,718,374 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0511:Ank3
|
UTSW |
10 |
69,718,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R1148:Ank3
|
UTSW |
10 |
69,718,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R1148:Ank3
|
UTSW |
10 |
69,718,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R1165:Ank3
|
UTSW |
10 |
69,734,132 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1186:Ank3
|
UTSW |
10 |
69,703,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R1257:Ank3
|
UTSW |
10 |
69,710,665 (GRCm39) |
nonsense |
probably null |
|
R1300:Ank3
|
UTSW |
10 |
69,840,495 (GRCm39) |
missense |
probably benign |
0.03 |
R1391:Ank3
|
UTSW |
10 |
69,370,110 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1549:Ank3
|
UTSW |
10 |
69,837,812 (GRCm39) |
missense |
probably benign |
0.18 |
R1586:Ank3
|
UTSW |
10 |
69,713,708 (GRCm39) |
missense |
probably damaging |
0.98 |
R1619:Ank3
|
UTSW |
10 |
69,715,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R1643:Ank3
|
UTSW |
10 |
69,720,632 (GRCm39) |
missense |
probably benign |
0.00 |
R1874:Ank3
|
UTSW |
10 |
69,733,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R1884:Ank3
|
UTSW |
10 |
69,851,422 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1901:Ank3
|
UTSW |
10 |
69,658,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R1986:Ank3
|
UTSW |
10 |
69,703,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R2051:Ank3
|
UTSW |
10 |
69,733,920 (GRCm39) |
missense |
probably damaging |
0.97 |
R2273:Ank3
|
UTSW |
10 |
69,786,772 (GRCm39) |
splice site |
probably null |
|
R2274:Ank3
|
UTSW |
10 |
69,786,772 (GRCm39) |
splice site |
probably null |
|
R2421:Ank3
|
UTSW |
10 |
69,818,034 (GRCm39) |
splice site |
probably benign |
|
R2434:Ank3
|
UTSW |
10 |
69,837,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R2969:Ank3
|
UTSW |
10 |
69,830,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R3426:Ank3
|
UTSW |
10 |
69,542,724 (GRCm39) |
missense |
probably benign |
|
R3885:Ank3
|
UTSW |
10 |
69,734,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R3936:Ank3
|
UTSW |
10 |
69,715,819 (GRCm39) |
nonsense |
probably null |
|
R4258:Ank3
|
UTSW |
10 |
69,840,592 (GRCm39) |
missense |
probably benign |
0.33 |
R4320:Ank3
|
UTSW |
10 |
69,740,076 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4434:Ank3
|
UTSW |
10 |
69,822,900 (GRCm39) |
missense |
probably damaging |
0.99 |
R4435:Ank3
|
UTSW |
10 |
69,822,900 (GRCm39) |
missense |
probably damaging |
0.99 |
R4486:Ank3
|
UTSW |
10 |
69,837,804 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4489:Ank3
|
UTSW |
10 |
69,734,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R4492:Ank3
|
UTSW |
10 |
69,644,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R4508:Ank3
|
UTSW |
10 |
69,728,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R4561:Ank3
|
UTSW |
10 |
69,837,848 (GRCm39) |
missense |
probably damaging |
0.99 |
R4724:Ank3
|
UTSW |
10 |
69,542,688 (GRCm39) |
missense |
probably benign |
|
R4790:Ank3
|
UTSW |
10 |
69,823,981 (GRCm39) |
nonsense |
probably null |
|
R4795:Ank3
|
UTSW |
10 |
69,694,095 (GRCm39) |
missense |
probably benign |
0.36 |
R4921:Ank3
|
UTSW |
10 |
69,837,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R4932:Ank3
|
UTSW |
10 |
69,734,053 (GRCm39) |
splice site |
probably null |
|
R4935:Ank3
|
UTSW |
10 |
69,812,033 (GRCm39) |
missense |
probably damaging |
0.99 |
R4946:Ank3
|
UTSW |
10 |
69,733,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R5174:Ank3
|
UTSW |
10 |
69,728,209 (GRCm39) |
missense |
probably damaging |
0.99 |
R5208:Ank3
|
UTSW |
10 |
69,838,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5248:Ank3
|
UTSW |
10 |
69,822,938 (GRCm39) |
missense |
probably benign |
0.00 |
R5255:Ank3
|
UTSW |
10 |
69,721,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R5307:Ank3
|
UTSW |
10 |
69,838,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5308:Ank3
|
UTSW |
10 |
69,838,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5373:Ank3
|
UTSW |
10 |
69,789,306 (GRCm39) |
splice site |
probably null |
|
R5374:Ank3
|
UTSW |
10 |
69,789,306 (GRCm39) |
splice site |
probably null |
|
R5502:Ank3
|
UTSW |
10 |
69,756,291 (GRCm39) |
missense |
probably benign |
0.12 |
R5508:Ank3
|
UTSW |
10 |
69,838,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5509:Ank3
|
UTSW |
10 |
69,838,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5510:Ank3
|
UTSW |
10 |
69,838,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5538:Ank3
|
UTSW |
10 |
69,823,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R5664:Ank3
|
UTSW |
10 |
69,838,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5665:Ank3
|
UTSW |
10 |
69,838,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5682:Ank3
|
UTSW |
10 |
69,729,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R5834:Ank3
|
UTSW |
10 |
69,658,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R5881:Ank3
|
UTSW |
10 |
69,822,660 (GRCm39) |
missense |
probably benign |
0.31 |
R5914:Ank3
|
UTSW |
10 |
69,828,774 (GRCm39) |
intron |
probably benign |
|
R5940:Ank3
|
UTSW |
10 |
69,756,316 (GRCm39) |
missense |
probably benign |
0.00 |
R5952:Ank3
|
UTSW |
10 |
69,822,293 (GRCm39) |
missense |
probably benign |
0.07 |
R5963:Ank3
|
UTSW |
10 |
69,823,056 (GRCm39) |
nonsense |
probably null |
|
R6075:Ank3
|
UTSW |
10 |
69,838,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6076:Ank3
|
UTSW |
10 |
69,838,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6077:Ank3
|
UTSW |
10 |
69,838,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6081:Ank3
|
UTSW |
10 |
69,838,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6092:Ank3
|
UTSW |
10 |
69,838,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6118:Ank3
|
UTSW |
10 |
69,830,231 (GRCm39) |
missense |
probably damaging |
0.98 |
R6135:Ank3
|
UTSW |
10 |
69,838,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6175:Ank3
|
UTSW |
10 |
69,763,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R6248:Ank3
|
UTSW |
10 |
69,809,680 (GRCm39) |
missense |
probably benign |
0.10 |
R6249:Ank3
|
UTSW |
10 |
69,658,906 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6273:Ank3
|
UTSW |
10 |
69,838,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6274:Ank3
|
UTSW |
10 |
69,838,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6290:Ank3
|
UTSW |
10 |
69,827,198 (GRCm39) |
intron |
probably benign |
|
R6298:Ank3
|
UTSW |
10 |
69,686,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R6349:Ank3
|
UTSW |
10 |
69,815,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R6366:Ank3
|
UTSW |
10 |
69,835,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R6371:Ank3
|
UTSW |
10 |
69,644,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R6459:Ank3
|
UTSW |
10 |
69,827,577 (GRCm39) |
intron |
probably benign |
|
R6489:Ank3
|
UTSW |
10 |
69,827,459 (GRCm39) |
missense |
probably benign |
0.00 |
R6491:Ank3
|
UTSW |
10 |
69,827,459 (GRCm39) |
missense |
probably benign |
0.00 |
R6499:Ank3
|
UTSW |
10 |
69,827,574 (GRCm39) |
intron |
probably benign |
|
R6520:Ank3
|
UTSW |
10 |
69,824,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R6521:Ank3
|
UTSW |
10 |
69,828,596 (GRCm39) |
intron |
probably benign |
|
R6535:Ank3
|
UTSW |
10 |
69,713,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R6548:Ank3
|
UTSW |
10 |
69,728,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R6587:Ank3
|
UTSW |
10 |
69,825,982 (GRCm39) |
intron |
probably benign |
|
R6624:Ank3
|
UTSW |
10 |
69,740,298 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6722:Ank3
|
UTSW |
10 |
69,826,074 (GRCm39) |
intron |
probably benign |
|
R6729:Ank3
|
UTSW |
10 |
69,644,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R6731:Ank3
|
UTSW |
10 |
69,849,858 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6742:Ank3
|
UTSW |
10 |
69,827,412 (GRCm39) |
intron |
probably benign |
|
R6788:Ank3
|
UTSW |
10 |
69,840,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R6846:Ank3
|
UTSW |
10 |
69,660,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R6933:Ank3
|
UTSW |
10 |
69,740,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R7034:Ank3
|
UTSW |
10 |
69,835,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R7036:Ank3
|
UTSW |
10 |
69,835,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R7132:Ank3
|
UTSW |
10 |
69,825,744 (GRCm39) |
missense |
|
|
R7171:Ank3
|
UTSW |
10 |
69,828,311 (GRCm39) |
missense |
|
|
R7241:Ank3
|
UTSW |
10 |
69,542,644 (GRCm39) |
start codon destroyed |
probably null |
0.11 |
R7386:Ank3
|
UTSW |
10 |
69,658,079 (GRCm39) |
missense |
unknown |
|
R7445:Ank3
|
UTSW |
10 |
69,827,954 (GRCm39) |
missense |
|
|
R7452:Ank3
|
UTSW |
10 |
69,734,881 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7492:Ank3
|
UTSW |
10 |
69,718,357 (GRCm39) |
missense |
unknown |
|
R7494:Ank3
|
UTSW |
10 |
69,824,756 (GRCm39) |
missense |
|
|
R7512:Ank3
|
UTSW |
10 |
69,826,691 (GRCm39) |
missense |
|
|
R7543:Ank3
|
UTSW |
10 |
69,786,846 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7577:Ank3
|
UTSW |
10 |
69,828,402 (GRCm39) |
missense |
|
|
R7610:Ank3
|
UTSW |
10 |
69,822,252 (GRCm39) |
missense |
|
|
R7673:Ank3
|
UTSW |
10 |
69,826,331 (GRCm39) |
missense |
|
|
R7682:Ank3
|
UTSW |
10 |
69,824,065 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7814:Ank3
|
UTSW |
10 |
69,822,734 (GRCm39) |
missense |
|
|
R7835:Ank3
|
UTSW |
10 |
69,823,557 (GRCm39) |
missense |
|
|
R7843:Ank3
|
UTSW |
10 |
69,822,788 (GRCm39) |
missense |
probably benign |
0.01 |
R7891:Ank3
|
UTSW |
10 |
69,824,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R8109:Ank3
|
UTSW |
10 |
69,826,148 (GRCm39) |
missense |
|
|
R8175:Ank3
|
UTSW |
10 |
69,729,339 (GRCm39) |
missense |
unknown |
|
R8210:Ank3
|
UTSW |
10 |
69,811,925 (GRCm39) |
missense |
possibly damaging |
0.72 |
R8211:Ank3
|
UTSW |
10 |
69,703,228 (GRCm39) |
missense |
unknown |
|
R8299:Ank3
|
UTSW |
10 |
69,811,981 (GRCm39) |
missense |
probably damaging |
0.98 |
R8302:Ank3
|
UTSW |
10 |
69,840,810 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8516:Ank3
|
UTSW |
10 |
69,763,559 (GRCm39) |
nonsense |
probably null |
|
R8543:Ank3
|
UTSW |
10 |
69,838,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R8549:Ank3
|
UTSW |
10 |
69,818,012 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8726:Ank3
|
UTSW |
10 |
69,823,084 (GRCm39) |
missense |
|
|
R8729:Ank3
|
UTSW |
10 |
69,838,428 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8735:Ank3
|
UTSW |
10 |
69,822,785 (GRCm39) |
missense |
probably benign |
0.24 |
R8751:Ank3
|
UTSW |
10 |
69,761,849 (GRCm39) |
intron |
probably benign |
|
R8788:Ank3
|
UTSW |
10 |
69,718,256 (GRCm39) |
missense |
unknown |
|
R8875:Ank3
|
UTSW |
10 |
69,660,233 (GRCm39) |
missense |
unknown |
|
R8919:Ank3
|
UTSW |
10 |
69,840,671 (GRCm39) |
missense |
possibly damaging |
0.72 |
R8932:Ank3
|
UTSW |
10 |
69,660,292 (GRCm39) |
missense |
probably benign |
0.00 |
R9053:Ank3
|
UTSW |
10 |
69,822,389 (GRCm39) |
missense |
|
|
R9064:Ank3
|
UTSW |
10 |
69,822,185 (GRCm39) |
missense |
|
|
R9084:Ank3
|
UTSW |
10 |
69,786,879 (GRCm39) |
missense |
probably benign |
0.12 |
R9160:Ank3
|
UTSW |
10 |
69,838,304 (GRCm39) |
missense |
unknown |
|
R9275:Ank3
|
UTSW |
10 |
69,822,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R9280:Ank3
|
UTSW |
10 |
69,818,021 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9300:Ank3
|
UTSW |
10 |
69,706,872 (GRCm39) |
missense |
unknown |
|
R9302:Ank3
|
UTSW |
10 |
69,761,849 (GRCm39) |
intron |
probably benign |
|
R9327:Ank3
|
UTSW |
10 |
69,812,086 (GRCm39) |
critical splice donor site |
probably null |
|
R9336:Ank3
|
UTSW |
10 |
69,809,578 (GRCm39) |
missense |
probably benign |
0.00 |
R9345:Ank3
|
UTSW |
10 |
69,761,899 (GRCm39) |
intron |
probably benign |
|
R9368:Ank3
|
UTSW |
10 |
69,823,329 (GRCm39) |
missense |
|
|
R9406:Ank3
|
UTSW |
10 |
69,645,011 (GRCm39) |
missense |
unknown |
|
R9491:Ank3
|
UTSW |
10 |
69,838,339 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9573:Ank3
|
UTSW |
10 |
69,791,977 (GRCm39) |
nonsense |
probably null |
|
R9674:Ank3
|
UTSW |
10 |
69,824,549 (GRCm39) |
missense |
|
|
R9710:Ank3
|
UTSW |
10 |
69,829,070 (GRCm39) |
missense |
|
|
R9720:Ank3
|
UTSW |
10 |
69,825,335 (GRCm39) |
missense |
|
|
R9767:Ank3
|
UTSW |
10 |
69,823,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R9800:Ank3
|
UTSW |
10 |
69,733,957 (GRCm39) |
missense |
unknown |
|
Z1176:Ank3
|
UTSW |
10 |
69,827,045 (GRCm39) |
missense |
|
|
Z1176:Ank3
|
UTSW |
10 |
69,786,840 (GRCm39) |
missense |
possibly damaging |
0.85 |
Z1176:Ank3
|
UTSW |
10 |
69,768,304 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAACTGTACTTGCTTCTGCG -3'
(R):5'- TTGGCGAAGAAACTGTCCG -3'
Sequencing Primer
(F):5'- GTACTTGCTTCTGCGATATTTCAAAG -3'
(R):5'- ACTGTCCGGAAAGATCTAATAGG -3'
|
Posted On |
2015-11-11 |