Incidental Mutation 'R7835:Ank3'
| ID |
605927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ank3
|
| Ensembl Gene |
ENSMUSG00000069601 |
| Gene Name |
ankyrin 3, epithelial |
| Synonyms |
Ankyrin-3, Ankyrin-G, AnkG, Ank-3, 2900054D09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Is this an essential gene? |
Probably essential
(E-score: 0.824)
|
| Stock # |
R7835 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
69398773-70027438 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69987727 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 742
(D742G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047061]
[ENSMUST00000054167]
[ENSMUST00000092431]
[ENSMUST00000092432]
[ENSMUST00000092433]
[ENSMUST00000092434]
[ENSMUST00000181974]
[ENSMUST00000182029]
[ENSMUST00000182155]
[ENSMUST00000182207]
[ENSMUST00000182269]
[ENSMUST00000182437]
[ENSMUST00000182439]
[ENSMUST00000182692]
[ENSMUST00000182795]
[ENSMUST00000182884]
[ENSMUST00000182972]
[ENSMUST00000182992]
[ENSMUST00000183023]
[ENSMUST00000183074]
[ENSMUST00000183148]
[ENSMUST00000183169]
[ENSMUST00000183261]
[ENSMUST00000185582]
[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 |
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: 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: 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: 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 |
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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182665
|
| 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: 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: 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: 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 damaging
Transcript: ENSMUST00000182992
AA Change: D2025G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138686
Gene: ENSMUSG00000069601
AA Change: D2025G
| 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: 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: 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: ENSMUST00000183082
|
| 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: 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: ENSMUST00000185582
|
| SMART Domains |
Protein: ENSMUSP00000140724
Gene: ENSMUSG00000069601
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
94 |
N/A |
INTRINSIC |
|
Pfam:Death
|
138 |
178 |
7.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218680
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (48/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
A |
7: 79,099,875 |
S1465T |
probably benign |
Het |
| Accsl |
T |
A |
2: 93,865,984 |
K90* |
probably null |
Het |
| Adamts3 |
A |
T |
5: 89,700,440 |
D674E |
possibly damaging |
Het |
| Adap2 |
T |
A |
11: 80,160,231 |
V129D |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,517,725 |
E316K |
probably benign |
Het |
| C330021F23Rik |
A |
G |
8: 3,580,452 |
|
probably benign |
Het |
| Cachd1 |
G |
T |
4: 100,974,153 |
|
probably null |
Het |
| Ccne1 |
G |
T |
7: 38,102,845 |
Q133K |
probably benign |
Het |
| Cers3 |
C |
T |
7: 66,773,639 |
H111Y |
possibly damaging |
Het |
| Chst5 |
A |
T |
8: 111,890,602 |
L129M |
probably damaging |
Het |
| Depdc7 |
A |
G |
2: 104,728,185 |
S164P |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,777,234 |
A1966T |
probably damaging |
Het |
| Fam208a |
G |
T |
14: 27,476,643 |
G1311C |
probably damaging |
Het |
| Fcgbp |
T |
G |
7: 28,117,207 |
S2365A |
possibly damaging |
Het |
| Ihh |
A |
G |
1: 74,946,366 |
V320A |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 900,558 |
V201A |
possibly damaging |
Het |
| Kif13b |
T |
A |
14: 64,767,452 |
H1117Q |
probably benign |
Het |
| Lcn8 |
C |
A |
2: 25,655,296 |
|
probably null |
Het |
| Lrp4 |
T |
C |
2: 91,495,042 |
V1404A |
possibly damaging |
Het |
| Lrrc61 |
A |
T |
6: 48,568,572 |
T110S |
probably benign |
Het |
| Mrpl19 |
G |
A |
6: 81,962,126 |
R232C |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,809,303 |
G2117A |
unknown |
Het |
| Mzt1 |
T |
C |
14: 99,046,003 |
T21A |
probably benign |
Het |
| Naip6 |
G |
T |
13: 100,316,004 |
A183E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,150,577 |
D6624G |
probably benign |
Het |
| Nup85 |
A |
G |
11: 115,570,071 |
D183G |
probably benign |
Het |
| Olfm5 |
A |
T |
7: 104,154,445 |
Y195* |
probably null |
Het |
| Olfr828 |
T |
A |
9: 18,815,809 |
M162L |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,082,945 |
F1216I |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 109,624,195 |
|
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,915,142 |
V135A |
probably benign |
Het |
| Ppcdc |
A |
G |
9: 57,420,276 |
S83P |
probably benign |
Het |
| Prss21 |
A |
T |
17: 23,869,451 |
Q130L |
possibly damaging |
Het |
| Rdx |
T |
A |
9: 52,065,788 |
N112K |
probably damaging |
Het |
| Rgs22 |
A |
G |
15: 36,081,911 |
|
probably null |
Het |
| Rps26 |
C |
T |
10: 128,626,126 |
V40I |
probably benign |
Het |
| Runx2 |
A |
T |
17: 44,608,236 |
M405K |
probably damaging |
Het |
| Serinc2 |
A |
C |
4: 130,275,487 |
C4G |
unknown |
Het |
| Sh3rf2 |
C |
A |
18: 42,111,170 |
R266S |
probably benign |
Het |
| Slc38a10 |
A |
G |
11: 120,116,996 |
I386T |
possibly damaging |
Het |
| Stab2 |
G |
A |
10: 86,872,619 |
P1694L |
probably benign |
Het |
| Taf4 |
G |
A |
2: 179,932,029 |
T682M |
probably damaging |
Het |
| Tmem102 |
A |
G |
11: 69,804,345 |
V267A |
probably damaging |
Het |
| Trim65 |
A |
G |
11: 116,130,929 |
L26P |
probably damaging |
Het |
| Vmn1r160 |
T |
A |
7: 22,871,954 |
M244K |
possibly damaging |
Het |
| Vmn1r57 |
A |
T |
7: 5,221,139 |
H221L |
probably benign |
Het |
| Wdr89 |
C |
A |
12: 75,632,899 |
V194F |
probably damaging |
Het |
| Wee1 |
C |
A |
7: 110,130,878 |
Y396* |
probably null |
Het |
| Zfp451 |
A |
T |
1: 33,772,979 |
V885D |
probably damaging |
Het |
| Zfp981 |
A |
T |
4: 146,537,876 |
Q419H |
probably benign |
Het |
| Znfx1 |
A |
G |
2: 167,039,827 |
Y1081H |
probably damaging |
Het |
|
| Other mutations in Ank3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Ank3
|
APN |
10 |
69982205 |
splice site |
probably benign |
|
|
IGL00578:Ank3
|
APN |
10 |
70002394 |
missense |
possibly damaging |
0.95 |
|
IGL00851:Ank3
|
APN |
10 |
69874833 |
missense |
probably damaging |
0.99 |
|
IGL01067:Ank3
|
APN |
10 |
69850196 |
missense |
probably damaging |
1.00 |
|
IGL01483:Ank3
|
APN |
10 |
69874809 |
missense |
probably damaging |
1.00 |
|
IGL01549:Ank3
|
APN |
10 |
69932420 |
missense |
probably damaging |
1.00 |
|
IGL01576:Ank3
|
APN |
10 |
69980291 |
missense |
probably damaging |
1.00 |
|
IGL01601:Ank3
|
APN |
10 |
70004725 |
missense |
possibly damaging |
0.87 |
|
IGL02047:Ank3
|
APN |
10 |
69892494 |
missense |
possibly damaging |
0.94 |
|
IGL02088:Ank3
|
APN |
10 |
69999373 |
missense |
probably damaging |
1.00 |
|
IGL02159:Ank3
|
APN |
10 |
69808892 |
missense |
probably damaging |
1.00 |
|
IGL02249:Ank3
|
APN |
10 |
69882370 |
missense |
probably damaging |
1.00 |
|
IGL02942:Ank3
|
APN |
10 |
69973877 |
missense |
probably damaging |
1.00 |
|
IGL02979:Ank3
|
APN |
10 |
70002099 |
missense |
probably benign |
0.01 |
|
IGL03379:Ank3
|
APN |
10 |
69973772 |
missense |
probably damaging |
1.00 |
|
PIT4495001:Ank3
|
UTSW |
10 |
69993072 |
missense |
|
|
|
R0011:Ank3
|
UTSW |
10 |
69979451 |
splice site |
probably benign |
|
|
R0011:Ank3
|
UTSW |
10 |
69979451 |
splice site |
probably benign |
|
|
R0172:Ank3
|
UTSW |
10 |
69976058 |
missense |
probably damaging |
1.00 |
|
R0315:Ank3
|
UTSW |
10 |
70002517 |
missense |
probably damaging |
0.98 |
|
R0480:Ank3
|
UTSW |
10 |
69879926 |
missense |
probably damaging |
0.96 |
|
R0485:Ank3
|
UTSW |
10 |
69882544 |
missense |
possibly damaging |
0.89 |
|
R0511:Ank3
|
UTSW |
10 |
69882368 |
missense |
probably damaging |
1.00 |
|
R1148:Ank3
|
UTSW |
10 |
69882539 |
missense |
probably damaging |
1.00 |
|
R1148:Ank3
|
UTSW |
10 |
69882539 |
missense |
probably damaging |
1.00 |
|
R1165:Ank3
|
UTSW |
10 |
69898302 |
missense |
possibly damaging |
0.90 |
|
R1186:Ank3
|
UTSW |
10 |
69867460 |
missense |
probably damaging |
1.00 |
|
R1257:Ank3
|
UTSW |
10 |
69874835 |
nonsense |
probably null |
|
|
R1300:Ank3
|
UTSW |
10 |
70004665 |
missense |
probably benign |
0.03 |
|
R1391:Ank3
|
UTSW |
10 |
69534280 |
missense |
possibly damaging |
0.96 |
|
R1549:Ank3
|
UTSW |
10 |
70001982 |
missense |
probably benign |
0.18 |
|
R1586:Ank3
|
UTSW |
10 |
69877878 |
missense |
probably damaging |
0.98 |
|
R1619:Ank3
|
UTSW |
10 |
69879975 |
missense |
probably damaging |
1.00 |
|
R1643:Ank3
|
UTSW |
10 |
69884802 |
missense |
probably benign |
0.00 |
|
R1874:Ank3
|
UTSW |
10 |
69898083 |
missense |
probably damaging |
1.00 |
|
R1884:Ank3
|
UTSW |
10 |
70015592 |
missense |
possibly damaging |
0.53 |
|
R1901:Ank3
|
UTSW |
10 |
69822337 |
missense |
probably damaging |
1.00 |
|
R1986:Ank3
|
UTSW |
10 |
69867428 |
missense |
probably damaging |
1.00 |
|
R2051:Ank3
|
UTSW |
10 |
69898090 |
missense |
probably damaging |
0.97 |
|
R2273:Ank3
|
UTSW |
10 |
69950942 |
splice site |
probably null |
|
|
R2274:Ank3
|
UTSW |
10 |
69950942 |
splice site |
probably null |
|
|
R2421:Ank3
|
UTSW |
10 |
69982204 |
splice site |
probably benign |
|
|
R2434:Ank3
|
UTSW |
10 |
70002118 |
missense |
probably damaging |
1.00 |
|
R2969:Ank3
|
UTSW |
10 |
69994395 |
missense |
probably damaging |
1.00 |
|
R3426:Ank3
|
UTSW |
10 |
69706894 |
missense |
probably benign |
|
|
R3885:Ank3
|
UTSW |
10 |
69899036 |
missense |
probably damaging |
1.00 |
|
R3936:Ank3
|
UTSW |
10 |
69879989 |
nonsense |
probably null |
|
|
R4258:Ank3
|
UTSW |
10 |
70004762 |
missense |
probably benign |
0.33 |
|
R4320:Ank3
|
UTSW |
10 |
69904246 |
missense |
possibly damaging |
0.70 |
|
R4434:Ank3
|
UTSW |
10 |
69987070 |
missense |
probably damaging |
0.99 |
|
R4435:Ank3
|
UTSW |
10 |
69987070 |
missense |
probably damaging |
0.99 |
|
R4486:Ank3
|
UTSW |
10 |
70001974 |
missense |
possibly damaging |
0.86 |
|
R4489:Ank3
|
UTSW |
10 |
69898256 |
missense |
probably damaging |
1.00 |
|
R4492:Ank3
|
UTSW |
10 |
69808925 |
missense |
probably damaging |
1.00 |
|
R4508:Ank3
|
UTSW |
10 |
69892370 |
missense |
probably damaging |
1.00 |
|
R4561:Ank3
|
UTSW |
10 |
70002018 |
missense |
probably damaging |
0.99 |
|
R4724:Ank3
|
UTSW |
10 |
69706858 |
missense |
probably benign |
|
|
R4751:Ank3
|
UTSW |
10 |
69986206 |
missense |
probably benign |
0.19 |
|
R4790:Ank3
|
UTSW |
10 |
69988151 |
nonsense |
probably null |
|
|
R4795:Ank3
|
UTSW |
10 |
69858265 |
missense |
probably benign |
0.36 |
|
R4921:Ank3
|
UTSW |
10 |
70002109 |
missense |
probably damaging |
1.00 |
|
R4932:Ank3
|
UTSW |
10 |
69898223 |
splice site |
probably null |
|
|
R4935:Ank3
|
UTSW |
10 |
69976203 |
missense |
probably damaging |
0.99 |
|
R4946:Ank3
|
UTSW |
10 |
69898117 |
missense |
probably damaging |
1.00 |
|
R5174:Ank3
|
UTSW |
10 |
69892379 |
missense |
probably damaging |
0.99 |
|
R5208:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R5248:Ank3
|
UTSW |
10 |
69987108 |
missense |
probably benign |
0.00 |
|
R5255:Ank3
|
UTSW |
10 |
69885200 |
missense |
probably damaging |
1.00 |
|
R5307:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R5308:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R5373:Ank3
|
UTSW |
10 |
69953476 |
splice site |
probably null |
|
|
R5374:Ank3
|
UTSW |
10 |
69953476 |
splice site |
probably null |
|
|
R5502:Ank3
|
UTSW |
10 |
69920461 |
missense |
probably benign |
0.12 |
|
R5508:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R5509:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R5510:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R5538:Ank3
|
UTSW |
10 |
69987427 |
missense |
probably damaging |
1.00 |
|
R5664:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R5665:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R5682:Ank3
|
UTSW |
10 |
69893517 |
missense |
probably damaging |
1.00 |
|
R5834:Ank3
|
UTSW |
10 |
69822257 |
missense |
probably damaging |
1.00 |
|
R5881:Ank3
|
UTSW |
10 |
69986830 |
missense |
probably benign |
0.31 |
|
R5914:Ank3
|
UTSW |
10 |
69992944 |
intron |
probably benign |
|
|
R5940:Ank3
|
UTSW |
10 |
69920486 |
missense |
probably benign |
0.00 |
|
R5952:Ank3
|
UTSW |
10 |
69986463 |
missense |
probably benign |
0.07 |
|
R5963:Ank3
|
UTSW |
10 |
69987226 |
nonsense |
probably null |
|
|
R6075:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R6076:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R6077:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R6081:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R6092:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R6118:Ank3
|
UTSW |
10 |
69994401 |
missense |
probably damaging |
0.98 |
|
R6135:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R6175:Ank3
|
UTSW |
10 |
69927727 |
missense |
probably damaging |
1.00 |
|
R6248:Ank3
|
UTSW |
10 |
69973850 |
missense |
probably benign |
0.10 |
|
R6249:Ank3
|
UTSW |
10 |
69823076 |
critical splice acceptor site |
probably null |
|
|
R6273:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R6274:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R6290:Ank3
|
UTSW |
10 |
69991368 |
intron |
probably benign |
|
|
R6298:Ank3
|
UTSW |
10 |
69850176 |
missense |
probably damaging |
1.00 |
|
R6349:Ank3
|
UTSW |
10 |
69979439 |
missense |
probably damaging |
1.00 |
|
R6366:Ank3
|
UTSW |
10 |
69999358 |
missense |
probably damaging |
1.00 |
|
R6371:Ank3
|
UTSW |
10 |
69808879 |
missense |
probably damaging |
1.00 |
|
R6459:Ank3
|
UTSW |
10 |
69991747 |
intron |
probably benign |
|
|
R6489:Ank3
|
UTSW |
10 |
69991629 |
missense |
probably benign |
0.00 |
|
R6491:Ank3
|
UTSW |
10 |
69991629 |
missense |
probably benign |
0.00 |
|
R6499:Ank3
|
UTSW |
10 |
69991744 |
intron |
probably benign |
|
|
R6520:Ank3
|
UTSW |
10 |
69988387 |
missense |
probably damaging |
1.00 |
|
R6521:Ank3
|
UTSW |
10 |
69992766 |
intron |
probably benign |
|
|
R6535:Ank3
|
UTSW |
10 |
69877854 |
missense |
probably damaging |
1.00 |
|
R6548:Ank3
|
UTSW |
10 |
69892410 |
missense |
probably damaging |
1.00 |
|
R6587:Ank3
|
UTSW |
10 |
69990152 |
intron |
probably benign |
|
|
R6624:Ank3
|
UTSW |
10 |
69904468 |
missense |
possibly damaging |
0.66 |
|
R6722:Ank3
|
UTSW |
10 |
69990244 |
intron |
probably benign |
|
|
R6729:Ank3
|
UTSW |
10 |
69808925 |
missense |
probably damaging |
1.00 |
|
R6731:Ank3
|
UTSW |
10 |
70014028 |
missense |
possibly damaging |
0.70 |
|
R6742:Ank3
|
UTSW |
10 |
69991582 |
intron |
probably benign |
|
|
R6788:Ank3
|
UTSW |
10 |
70004723 |
missense |
probably damaging |
1.00 |
|
R6846:Ank3
|
UTSW |
10 |
69824349 |
missense |
probably damaging |
1.00 |
|
R6933:Ank3
|
UTSW |
10 |
69904212 |
missense |
probably damaging |
1.00 |
|
R7034:Ank3
|
UTSW |
10 |
69999379 |
missense |
probably damaging |
1.00 |
|
R7036:Ank3
|
UTSW |
10 |
69999379 |
missense |
probably damaging |
1.00 |
|
R7132:Ank3
|
UTSW |
10 |
69989914 |
missense |
|
|
|
R7171:Ank3
|
UTSW |
10 |
69992481 |
missense |
|
|
|
R7241:Ank3
|
UTSW |
10 |
69706814 |
start codon destroyed |
probably null |
0.11 |
|
R7386:Ank3
|
UTSW |
10 |
69822249 |
missense |
unknown |
|
|
R7445:Ank3
|
UTSW |
10 |
69992124 |
missense |
|
|
|
R7452:Ank3
|
UTSW |
10 |
69899051 |
missense |
possibly damaging |
0.53 |
|
R7492:Ank3
|
UTSW |
10 |
69882527 |
missense |
unknown |
|
|
R7494:Ank3
|
UTSW |
10 |
69988926 |
missense |
|
|
|
R7512:Ank3
|
UTSW |
10 |
69990861 |
missense |
|
|
|
R7543:Ank3
|
UTSW |
10 |
69951016 |
missense |
possibly damaging |
0.96 |
|
R7577:Ank3
|
UTSW |
10 |
69992572 |
missense |
|
|
|
R7610:Ank3
|
UTSW |
10 |
69986422 |
missense |
|
|
|
R7673:Ank3
|
UTSW |
10 |
69990501 |
missense |
|
|
|
R7682:Ank3
|
UTSW |
10 |
69988235 |
missense |
possibly damaging |
0.53 |
|
R7814:Ank3
|
UTSW |
10 |
69986904 |
missense |
|
|
|
R7843:Ank3
|
UTSW |
10 |
69986958 |
missense |
probably benign |
0.01 |
|
R7891:Ank3
|
UTSW |
10 |
69988309 |
missense |
probably damaging |
1.00 |
|
R8109:Ank3
|
UTSW |
10 |
69990318 |
missense |
|
|
|
R8175:Ank3
|
UTSW |
10 |
69893509 |
missense |
unknown |
|
|
R8210:Ank3
|
UTSW |
10 |
69976095 |
missense |
possibly damaging |
0.72 |
|
R8211:Ank3
|
UTSW |
10 |
69867398 |
missense |
unknown |
|
|
R8299:Ank3
|
UTSW |
10 |
69976151 |
missense |
probably damaging |
0.98 |
|
R8302:Ank3
|
UTSW |
10 |
70004980 |
missense |
possibly damaging |
0.73 |
|
R8516:Ank3
|
UTSW |
10 |
69927729 |
nonsense |
probably null |
|
|
R8543:Ank3
|
UTSW |
10 |
70002436 |
missense |
probably damaging |
1.00 |
|
R8549:Ank3
|
UTSW |
10 |
69982182 |
missense |
possibly damaging |
0.74 |
|
R8726:Ank3
|
UTSW |
10 |
69987254 |
missense |
|
|
|
R8729:Ank3
|
UTSW |
10 |
70002598 |
missense |
possibly damaging |
0.85 |
|
R8735:Ank3
|
UTSW |
10 |
69986955 |
missense |
probably benign |
0.24 |
|
R8751:Ank3
|
UTSW |
10 |
69926019 |
intron |
probably benign |
|
|
R8788:Ank3
|
UTSW |
10 |
69882426 |
missense |
unknown |
|
|
R8875:Ank3
|
UTSW |
10 |
69824403 |
missense |
unknown |
|
|
R8919:Ank3
|
UTSW |
10 |
70004841 |
missense |
possibly damaging |
0.72 |
|
R8932:Ank3
|
UTSW |
10 |
69824462 |
missense |
probably benign |
0.00 |
|
R9053:Ank3
|
UTSW |
10 |
69986559 |
missense |
|
|
|
R9064:Ank3
|
UTSW |
10 |
69986355 |
missense |
|
|
|
R9084:Ank3
|
UTSW |
10 |
69951049 |
missense |
probably benign |
0.12 |
|
R9160:Ank3
|
UTSW |
10 |
70002474 |
missense |
unknown |
|
|
R9275:Ank3
|
UTSW |
10 |
69986832 |
missense |
probably damaging |
1.00 |
|
R9280:Ank3
|
UTSW |
10 |
69982191 |
missense |
possibly damaging |
0.83 |
|
R9300:Ank3
|
UTSW |
10 |
69871042 |
missense |
unknown |
|
|
R9302:Ank3
|
UTSW |
10 |
69926019 |
intron |
probably benign |
|
|
R9327:Ank3
|
UTSW |
10 |
69976256 |
critical splice donor site |
probably null |
|
|
R9336:Ank3
|
UTSW |
10 |
69973748 |
missense |
probably benign |
0.00 |
|
R9345:Ank3
|
UTSW |
10 |
69926069 |
intron |
probably benign |
|
|
R9368:Ank3
|
UTSW |
10 |
69987499 |
missense |
|
|
|
R9406:Ank3
|
UTSW |
10 |
69809181 |
missense |
unknown |
|
|
R9491:Ank3
|
UTSW |
10 |
70002509 |
critical splice acceptor site |
probably null |
|
|
R9573:Ank3
|
UTSW |
10 |
69956147 |
nonsense |
probably null |
|
|
Z1176:Ank3
|
UTSW |
10 |
69932474 |
missense |
possibly damaging |
0.96 |
|
Z1176:Ank3
|
UTSW |
10 |
69951010 |
missense |
possibly damaging |
0.85 |
|
Z1176:Ank3
|
UTSW |
10 |
69991215 |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGAGGAGAAGCCATTC -3'
(R):5'- TGCACAGTTCCTTCTCAGAGG -3'
Sequencing Primer
(F):5'- TACTCAAAAAGGACGTGTGTGTC -3'
(R):5'- CACAGTTCCTTCTCAGAGGTGGAAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation