Incidental Mutation 'R6135:Ank3'
| ID | 488293 |
|---|
| 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 |
044282-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Probably essential (E-score: 0.854)
|
|---|
| Stock # | R6135 (G1)
|
|---|
| Quality Score | 225.009 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 10 |
|---|
| Chromosomal Location | 69398773-70027438 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
G to A
at 70002565 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Arginine to Lysine
at position 1566
(R1566K)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138347
(fasta)
|
|---|
| 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]
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047061
AA Change: R678K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000045834
Gene: ENSMUSG00000069601
AA Change: R678K
| 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
AA Change: R1762K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000061698
Gene: ENSMUSG00000069601
AA Change: R1762K
| 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
AA Change: R1780K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000090087
Gene: ENSMUSG00000069601
AA Change: R1780K
| 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
AA Change: R1783K
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000090088
Gene: ENSMUSG00000069601
AA Change: R1783K
| 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
AA Change: R934K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000090089
Gene: ENSMUSG00000069601
AA Change: R934K
| 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
AA Change: R1801K
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000090090
Gene: ENSMUSG00000069601
AA Change: R1801K
| 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 |
unknown
Transcript: ENSMUST00000181974
AA Change: R738K
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138285
Gene: ENSMUSG00000069601
AA Change: R738K
| 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
AA Change: R934K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138337
Gene: ENSMUSG00000069601
AA Change: R934K
| 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 |
possibly damaging
Transcript: ENSMUST00000182155
AA Change: R1566K
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138347
Gene: ENSMUSG00000069601
AA Change: R1566K
| 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
AA Change: R299K
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138531
Gene: ENSMUSG00000069601
AA Change: R299K
| 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
AA Change: R725K
PolyPhen 2
Score 0.309 (Sensitivity: 0.90; Specificity: 0.89)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138123
Gene: ENSMUSG00000069601
AA Change: R725K
| 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
AA Change: R725K
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138586
Gene: ENSMUSG00000069601
AA Change: R725K
| 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
AA Change: R678K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138356
Gene: ENSMUSG00000069601
AA Change: R678K
| 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 |
noncoding transcript
Transcript: ENSMUST00000182606
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182665
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182692
AA Change: R841K
PolyPhen 2
Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138623
Gene: ENSMUSG00000069601
AA Change: R841K
| 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
AA Change: R721K
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138413
Gene: ENSMUSG00000069601
AA Change: R721K
| 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
AA Change: R1801K
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138326
Gene: ENSMUSG00000069601
AA Change: R1801K
| 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
AA Change: R1021K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138481
Gene: ENSMUSG00000069601
AA Change: R1021K
| 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 |
unknown
Transcript: ENSMUST00000182992
AA Change: R2462K
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138686
Gene: ENSMUSG00000069601
AA Change: R2462K
| 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 |
noncoding transcript
Transcript: ENSMUST00000183001
|
|---|
| Predicted Effect |
unknown
Transcript: ENSMUST00000183023
AA Change: R397K
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138450
Gene: ENSMUSG00000069601
AA Change: R397K
| 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
AA Change: R921K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138671
Gene: ENSMUSG00000069601
AA Change: R921K
| 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: ENSMUST00000183148
AA Change: R1749K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138770
Gene: ENSMUSG00000069601
AA Change: R1749K
| 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
AA Change: R1553K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138348
Gene: ENSMUSG00000069601
AA Change: R1553K
| 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
AA Change: R921K
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138095
Gene: ENSMUSG00000069601
AA Change: R921K
| 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: ENSMUST00000186247
|
|---|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218680
AA Change: R1598K
|
|---|
| Meta Mutation Damage Score |
0.0654
|
|---|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
|---|
| Validation Efficiency |
100% (55/55) |
|---|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,254,216 |
E95G |
probably damaging |
Het |
| Abca4 |
C |
T |
3: 122,138,447 |
T250I |
possibly damaging |
Het |
| Ahi1 |
G |
A |
10: 20,969,121 |
R375H |
probably benign |
Het |
| Aimp1 |
T |
C |
3: 132,672,083 |
K174E |
probably benign |
Het |
| Aire |
A |
G |
10: 78,042,967 |
L82P |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,609,908 |
V760D |
possibly damaging |
Het |
| Carf |
C |
T |
1: 60,147,963 |
S540F |
probably damaging |
Het |
| Ccdc171 |
T |
A |
4: 83,554,850 |
M172K |
probably benign |
Het |
| Chpt1 |
A |
T |
10: 88,482,283 |
V199E |
possibly damaging |
Het |
| Cldn16 |
G |
A |
16: 26,474,268 |
D65N |
possibly damaging |
Het |
| Cnga3 |
G |
A |
1: 37,232,237 |
|
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,380,850 |
T440A |
unknown |
Het |
| Creb3l3 |
A |
G |
10: 81,085,718 |
I331T |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,521,453 |
T1410A |
probably benign |
Het |
| Dnm1 |
T |
A |
2: 32,333,063 |
|
probably null |
Het |
| Fhl5 |
A |
T |
4: 25,214,716 |
Y20* |
probably null |
Het |
| Fignl1 |
T |
C |
11: 11,802,557 |
D166G |
probably benign |
Het |
| Ghr |
T |
C |
15: 3,325,965 |
I279V |
probably benign |
Het |
| Gm1979 |
T |
G |
5: 26,000,300 |
S180R |
probably damaging |
Het |
| Hydin |
T |
C |
8: 110,462,660 |
V1232A |
possibly damaging |
Het |
| Ifnar1 |
A |
G |
16: 91,501,620 |
|
probably null |
Het |
| Inpp5d |
A |
G |
1: 87,620,397 |
|
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,984,157 |
R447W |
probably benign |
Het |
| Kcnh2 |
T |
A |
5: 24,321,793 |
S1002C |
probably damaging |
Het |
| Krt83 |
T |
A |
15: 101,487,534 |
E319V |
probably damaging |
Het |
| Lbp |
A |
G |
2: 158,317,549 |
I201V |
probably benign |
Het |
| Man1a2 |
G |
A |
3: 100,684,932 |
|
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,297,500 |
T996A |
possibly damaging |
Het |
| Nat10 |
A |
G |
2: 103,743,316 |
L319P |
probably damaging |
Het |
| Nelfa |
A |
G |
5: 33,899,276 |
|
probably null |
Het |
| Olfr1447 |
A |
C |
19: 12,901,439 |
Y114D |
probably damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,005,817 |
N166K |
probably damaging |
Het |
| Pcdha6 |
C |
A |
18: 36,969,216 |
N487K |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,573,540 |
D91G |
possibly damaging |
Het |
| Pigp |
A |
G |
16: 94,370,206 |
F22L |
probably benign |
Het |
| Pnpla8 |
A |
C |
12: 44,282,887 |
N74T |
probably benign |
Het |
| Ppargc1b |
T |
C |
18: 61,315,909 |
K114R |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,857,569 |
D645G |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,442,028 |
V2688I |
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,732,125 |
H557R |
probably damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,030,096 |
P1044S |
probably damaging |
Het |
| Rrp9 |
G |
A |
9: 106,483,022 |
D210N |
probably damaging |
Het |
| Scin |
G |
T |
12: 40,079,808 |
Q329K |
possibly damaging |
Het |
| Scn7a |
T |
A |
2: 66,703,900 |
H477L |
probably benign |
Het |
| Slc26a8 |
A |
T |
17: 28,669,940 |
M195K |
probably benign |
Het |
| Spata13 |
A |
G |
14: 60,756,428 |
K1110E |
probably damaging |
Het |
| Spata24 |
T |
A |
18: 35,660,450 |
E103V |
probably damaging |
Het |
| Srek1 |
T |
C |
13: 103,774,386 |
N25S |
probably damaging |
Het |
| Strada |
T |
C |
11: 106,173,314 |
Y59C |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,736,005 |
W1143R |
probably damaging |
Het |
| Trip12 |
A |
T |
1: 84,760,838 |
D765E |
probably benign |
Het |
| Ttbk2 |
G |
A |
2: 120,750,317 |
R444C |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,912,106 |
I4555N |
possibly damaging |
Het |
| Vcan |
C |
T |
13: 89,689,926 |
E2500K |
probably benign |
Het |
| Vps16 |
A |
G |
2: 130,438,653 |
Y200C |
possibly damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,971,711 |
H2719L |
probably damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,074,196 |
D347G |
possibly damaging |
Het |
| Zfp653 |
G |
A |
9: 22,058,262 |
T236I |
probably damaging |
Het |
| Zscan4-ps1 |
A |
T |
7: 11,065,986 |
H325Q |
probably benign |
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 |
|
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 |
|
|
|
R7835:Ank3
|
UTSW |
10 |
69987727 |
missense |
|
|
|
R7843:Ank3
|
UTSW |
10 |
69986958 |
missense |
probably benign |
0.01 |
|
R7891:Ank3
|
UTSW |
10 |
69988309 |
missense |
probably damaging |
1.00 |
|
R7918:Ank3
|
UTSW |
10 |
69987727 |
missense |
|
|
|
R7926:Ank3
|
UTSW |
10 |
69986958 |
missense |
probably benign |
0.01 |
|
R7974:Ank3
|
UTSW |
10 |
69988309 |
missense |
probably damaging |
1.00 |
|
Z1176:Ank3
|
UTSW |
10 |
69932474 |
missense |
not run |
|
|
Z1176:Ank3
|
UTSW |
10 |
69951010 |
missense |
not run |
|
|
Z1176:Ank3
|
UTSW |
10 |
69991215 |
missense |
not run |
|
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- AGGAAAATCTGGTCCTGATGAG -3'
(R):5'- TCTAGGGATTATAGCACACATAACC -3'
Sequencing Primer
(F):5'- CAAGGTCAAATCTCTGTTTGAGGAC -3'
(R):5'- CATAACCAATCTTTATAGAGAGGGC -3'
|
|---|
| Posted On | 2017-10-10 |
|---|
