Incidental Mutation 'R9336:Ank3'
ID |
707169 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.829)
|
Stock # |
R9336 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
69234608-69863266 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 69809578 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 1120
(T1120S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138326
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047061]
[ENSMUST00000054167]
[ENSMUST00000092431]
[ENSMUST00000092432]
[ENSMUST00000092433]
[ENSMUST00000092434]
[ENSMUST00000181974]
[ENSMUST00000182884]
[ENSMUST00000182029]
[ENSMUST00000182155]
[ENSMUST00000182269]
[ENSMUST00000182437]
[ENSMUST00000182439]
[ENSMUST00000182683]
[ENSMUST00000182692]
[ENSMUST00000182795]
[ENSMUST00000182972]
[ENSMUST00000182992]
[ENSMUST00000183074]
[ENSMUST00000183148]
[ENSMUST00000183169]
[ENSMUST00000183261]
[ENSMUST00000218680]
|
AlphaFold |
G5E8K5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047061
AA Change: T193S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000045834 Gene: ENSMUSG00000069601 AA Change: T193S
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: T1081S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000061698 Gene: ENSMUSG00000069601 AA Change: T1081S
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: T1099S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000090087 Gene: ENSMUSG00000069601 AA Change: T1099S
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: T1102S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000090088 Gene: ENSMUSG00000069601 AA Change: T1102S
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: T253S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000090089 Gene: ENSMUSG00000069601 AA Change: T253S
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 |
|
SMART Domains |
Protein: ENSMUSP00000090090 Gene: ENSMUSG00000069601 AA Change: T1120S
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
AA Change: T253S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000138285 Gene: ENSMUSG00000069601 AA Change: T253S
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: ENSMUST00000182884
AA Change: T1120S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000138326 Gene: ENSMUSG00000069601 AA Change: T1120S
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: ENSMUST00000182029
AA Change: T253S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138337 Gene: ENSMUSG00000069601 AA Change: T253S
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
AA Change: T1081S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138347 Gene: ENSMUSG00000069601 AA Change: T1081S
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: ENSMUST00000182269
AA Change: T252S
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000138123 Gene: ENSMUSG00000069601 AA Change: T252S
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: T252S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138586 Gene: ENSMUSG00000069601 AA Change: T252S
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: T193S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138356 Gene: ENSMUSG00000069601 AA Change: T193S
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: ENSMUST00000182683
AA Change: T290S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000138375 Gene: ENSMUSG00000069601 AA Change: T290S
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
11 |
N/A |
INTRINSIC |
low complexity region
|
65 |
82 |
N/A |
INTRINSIC |
ZU5
|
153 |
257 |
2.75e-57 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182692
AA Change: T253S
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000138623 Gene: ENSMUSG00000069601 AA Change: T253S
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: T248S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138413 Gene: ENSMUSG00000069601 AA Change: T248S
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: ENSMUST00000182972
AA Change: T340S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138481 Gene: ENSMUSG00000069601 AA Change: T340S
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: ENSMUST00000182992
AA Change: T1127S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000138686 Gene: ENSMUSG00000069601 AA Change: T1127S
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: ENSMUST00000183074
AA Change: T252S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138671 Gene: ENSMUSG00000069601 AA Change: T252S
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: T1080S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000138770 Gene: ENSMUSG00000069601 AA Change: T1080S
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: T1080S
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000138348 Gene: ENSMUSG00000069601 AA Change: T1080S
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: T252S
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000138095 Gene: ENSMUSG00000069601 AA Change: T252S
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: ENSMUST00000186247
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218680
AA Change: T1113S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
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: 94 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
C |
T |
4: 148,029,490 (GRCm39) |
R487C |
probably benign |
Het |
2900026A02Rik |
A |
T |
5: 113,240,966 (GRCm39) |
|
probably null |
Het |
Adamts15 |
T |
A |
9: 30,816,085 (GRCm39) |
T625S |
probably damaging |
Het |
Adamtsl1 |
T |
C |
4: 86,240,264 (GRCm39) |
V675A |
probably benign |
Het |
Armh3 |
A |
T |
19: 45,945,120 (GRCm39) |
M277K |
probably damaging |
Het |
Babam2 |
A |
T |
5: 31,859,194 (GRCm39) |
M1L |
possibly damaging |
Het |
Cadm3 |
G |
A |
1: 173,168,786 (GRCm39) |
Q261* |
probably null |
Het |
Cdc27 |
A |
T |
11: 104,396,496 (GRCm39) |
D802E |
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,716,494 (GRCm39) |
V324I |
probably benign |
Het |
Cfap44 |
T |
C |
16: 44,242,807 (GRCm39) |
I737T |
probably damaging |
Het |
Chrm3 |
A |
T |
13: 9,928,652 (GRCm39) |
I128N |
probably damaging |
Het |
Cyfip1 |
T |
A |
7: 55,554,189 (GRCm39) |
S743T |
probably benign |
Het |
Ddias |
A |
G |
7: 92,507,314 (GRCm39) |
V867A |
possibly damaging |
Het |
Ddx20 |
G |
C |
3: 105,585,903 (GRCm39) |
T814R |
possibly damaging |
Het |
Dgka |
A |
T |
10: 128,566,935 (GRCm39) |
|
probably null |
Het |
Dnah9 |
A |
T |
11: 65,761,775 (GRCm39) |
V3905E |
probably damaging |
Het |
Dsg3 |
C |
A |
18: 20,657,742 (GRCm39) |
Q271K |
probably benign |
Het |
Dvl2 |
T |
A |
11: 69,897,180 (GRCm39) |
I294N |
probably damaging |
Het |
E2f3 |
G |
A |
13: 30,095,239 (GRCm39) |
H350Y |
possibly damaging |
Het |
Eif2b5 |
G |
A |
16: 20,324,027 (GRCm39) |
D457N |
probably damaging |
Het |
Erbb3 |
T |
C |
10: 128,420,929 (GRCm39) |
T125A |
probably benign |
Het |
Etv5 |
A |
C |
16: 22,254,627 (GRCm39) |
C78G |
probably benign |
Het |
Frrs1 |
G |
A |
3: 116,684,582 (GRCm39) |
R263H |
probably benign |
Het |
Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
Hivep3 |
A |
T |
4: 119,952,400 (GRCm39) |
I239F |
possibly damaging |
Het |
Ifi208 |
C |
T |
1: 173,510,394 (GRCm39) |
T183I |
probably damaging |
Het |
Ifitm2 |
AG |
A |
7: 140,535,814 (GRCm39) |
|
probably null |
Het |
Igkv1-88 |
T |
A |
6: 68,839,313 (GRCm39) |
I100F |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,614,165 (GRCm39) |
N185S |
probably benign |
Het |
Kmt2d |
A |
C |
15: 98,743,697 (GRCm39) |
L3821R |
unknown |
Het |
Krtap22-2 |
T |
G |
16: 88,807,478 (GRCm39) |
Y40S |
unknown |
Het |
Lrrc1 |
A |
G |
9: 77,349,480 (GRCm39) |
V362A |
probably damaging |
Het |
Malsu1 |
T |
A |
6: 49,061,449 (GRCm39) |
I171N |
probably damaging |
Het |
Mark1 |
C |
T |
1: 184,648,345 (GRCm39) |
G314S |
possibly damaging |
Het |
Mib2 |
T |
C |
4: 155,743,394 (GRCm39) |
N135S |
probably benign |
Het |
Mos |
A |
T |
4: 3,870,886 (GRCm39) |
L310Q |
probably damaging |
Het |
Muc4 |
C |
T |
16: 32,569,756 (GRCm39) |
T272I |
possibly damaging |
Het |
Myo15b |
A |
G |
11: 115,771,064 (GRCm39) |
T1654A |
|
Het |
Napsa |
G |
T |
7: 44,231,769 (GRCm39) |
G153W |
probably damaging |
Het |
Nos3 |
A |
C |
5: 24,584,761 (GRCm39) |
I722L |
probably benign |
Het |
Or10z1 |
A |
T |
1: 174,077,679 (GRCm39) |
D271E |
probably damaging |
Het |
Or1p1c |
A |
T |
11: 74,160,743 (GRCm39) |
D176V |
probably damaging |
Het |
Or51h1 |
A |
T |
7: 102,308,199 (GRCm39) |
H57L |
probably damaging |
Het |
Or5b104 |
A |
T |
19: 13,072,513 (GRCm39) |
S166R |
probably benign |
Het |
P4ha2 |
T |
A |
11: 54,002,390 (GRCm39) |
D109E |
possibly damaging |
Het |
Pappa |
G |
T |
4: 65,042,918 (GRCm39) |
C47F |
unknown |
Het |
Pbx3 |
T |
A |
2: 34,261,832 (GRCm39) |
H34L |
probably benign |
Het |
Pcca |
A |
G |
14: 122,887,738 (GRCm39) |
T234A |
probably benign |
Het |
Pcdha11 |
C |
T |
18: 37,144,514 (GRCm39) |
R202W |
probably damaging |
Het |
Pcdhga1 |
T |
G |
18: 37,795,251 (GRCm39) |
V85G |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,726,562 (GRCm39) |
I1807V |
unknown |
Het |
Pgm3 |
A |
T |
9: 86,437,413 (GRCm39) |
F528Y |
probably benign |
Het |
Pigz |
T |
C |
16: 31,763,694 (GRCm39) |
Y251H |
probably damaging |
Het |
Pik3c2g |
G |
T |
6: 139,821,161 (GRCm39) |
Q687H |
|
Het |
Pja2 |
A |
T |
17: 64,590,432 (GRCm39) |
N700K |
unknown |
Het |
Pkd2l2 |
T |
C |
18: 34,561,158 (GRCm39) |
F389L |
probably damaging |
Het |
Plcz1 |
T |
A |
6: 139,985,446 (GRCm39) |
T32S |
possibly damaging |
Het |
Pola2 |
A |
G |
19: 5,991,029 (GRCm39) |
V555A |
possibly damaging |
Het |
Ppp4r3a |
A |
C |
12: 101,015,919 (GRCm39) |
C541G |
probably benign |
Het |
Prr15l |
A |
T |
11: 96,825,599 (GRCm39) |
K76N |
probably damaging |
Het |
Psg28 |
C |
A |
7: 18,156,905 (GRCm39) |
K443N |
possibly damaging |
Het |
Ptch2 |
G |
T |
4: 116,954,197 (GRCm39) |
A76S |
probably damaging |
Het |
Ptch2 |
A |
G |
4: 116,966,776 (GRCm39) |
D553G |
possibly damaging |
Het |
Ptprz1 |
T |
C |
6: 23,000,855 (GRCm39) |
S982P |
probably benign |
Het |
Rnd3 |
T |
C |
2: 51,038,844 (GRCm39) |
I15V |
probably benign |
Het |
Rtn3 |
T |
C |
19: 7,460,328 (GRCm39) |
K41E |
unknown |
Het |
Sap25 |
T |
C |
5: 137,639,985 (GRCm39) |
S30P |
probably benign |
Het |
Scfd2 |
A |
T |
5: 74,692,006 (GRCm39) |
I92N |
probably damaging |
Het |
Sdr16c5 |
T |
C |
4: 4,016,108 (GRCm39) |
Y106C |
probably damaging |
Het |
Sell |
T |
C |
1: 163,893,177 (GRCm39) |
I131T |
probably damaging |
Het |
Sesn3 |
T |
A |
9: 14,225,850 (GRCm39) |
V195D |
probably damaging |
Het |
Setdb2 |
A |
G |
14: 59,660,816 (GRCm39) |
V109A |
unknown |
Het |
Skint2 |
T |
C |
4: 112,483,054 (GRCm39) |
I153T |
probably benign |
Het |
Slc22a1 |
A |
G |
17: 12,886,142 (GRCm39) |
S164P |
probably damaging |
Het |
Sowahc |
G |
A |
10: 59,058,305 (GRCm39) |
G147D |
probably benign |
Het |
Strip2 |
G |
C |
6: 29,931,824 (GRCm39) |
G456R |
probably benign |
Het |
Synpo |
G |
T |
18: 60,735,472 (GRCm39) |
R825S |
probably damaging |
Het |
Tango6 |
A |
G |
8: 107,415,701 (GRCm39) |
D174G |
probably benign |
Het |
Tas1r2 |
T |
C |
4: 139,389,316 (GRCm39) |
F433S |
probably damaging |
Het |
Tas2r126 |
T |
C |
6: 42,411,877 (GRCm39) |
S137P |
probably benign |
Het |
Tbc1d15 |
A |
G |
10: 115,044,866 (GRCm39) |
F512S |
probably damaging |
Het |
Tenm3 |
A |
T |
8: 48,870,115 (GRCm39) |
L226Q |
probably damaging |
Het |
Tmod1 |
A |
G |
4: 46,078,368 (GRCm39) |
T59A |
probably damaging |
Het |
Tmprss9 |
T |
A |
10: 80,730,787 (GRCm39) |
M771K |
probably benign |
Het |
Trim29 |
T |
C |
9: 43,238,350 (GRCm39) |
Y485H |
possibly damaging |
Het |
Ttc17 |
T |
C |
2: 94,189,198 (GRCm39) |
K144E |
probably benign |
Het |
Ttc21b |
A |
G |
2: 66,057,287 (GRCm39) |
Y562H |
probably benign |
Het |
Ugt2b5 |
T |
C |
5: 87,285,130 (GRCm39) |
H269R |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,649,798 (GRCm39) |
F471L |
probably damaging |
Het |
Vmn2r120 |
T |
A |
17: 57,832,201 (GRCm39) |
D196V |
possibly damaging |
Het |
Wdr72 |
T |
C |
9: 74,117,292 (GRCm39) |
V680A |
probably damaging |
Het |
Wee1 |
G |
A |
7: 109,721,689 (GRCm39) |
G45S |
probably damaging |
Het |
Zfp1006 |
A |
T |
8: 129,944,149 (GRCm39) |
D91E |
unknown |
Het |
Zfp518a |
G |
A |
19: 40,901,225 (GRCm39) |
V385I |
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 |
|
R4751:Ank3
|
UTSW |
10 |
69,822,036 (GRCm39) |
missense |
probably benign |
0.19 |
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 |
|
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'- CTCATGGTACTTCAAAGGTATGTTC -3'
(R):5'- ATCCTCTTGGTTAAGGCGCC -3'
Sequencing Primer
(F):5'- GTCTGGAATTGAACTCAGGACCTC -3'
(R):5'- CTTGGTTAAGGCGCCCTCTG -3'
|
Posted On |
2022-04-18 |