Incidental Mutation 'R0511:Ank3'
| ID |
46930 |
| 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 |
038705-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.883)
|
| Stock # |
R0511 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
69398773-70027438 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69882368 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 483
(Q483L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138348
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047061]
[ENSMUST00000054167]
[ENSMUST00000092431]
[ENSMUST00000092432]
[ENSMUST00000092434]
[ENSMUST00000182155]
[ENSMUST00000182439]
[ENSMUST00000182884]
[ENSMUST00000182992]
[ENSMUST00000183148]
[ENSMUST00000183169]
[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 |
unknown
Transcript: ENSMUST00000054167
AA Change: Q483L
|
| SMART Domains |
Protein: ENSMUSP00000061698
Gene: ENSMUSG00000069601
AA Change: Q483L
| 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 damaging
Transcript: ENSMUST00000092431
AA Change: Q483L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000090087
Gene: ENSMUSG00000069601
AA Change: Q483L
| 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 |
possibly damaging
Transcript: ENSMUST00000092432
AA Change: Q483L
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000090088
Gene: ENSMUSG00000069601
AA Change: Q483L
| 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 |
unknown
Transcript: ENSMUST00000092434
AA Change: Q483L
|
| SMART Domains |
Protein: ENSMUSP00000090090
Gene: ENSMUSG00000069601
AA Change: Q483L
| 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: ENSMUST00000182155
AA Change: Q483L
|
| SMART Domains |
Protein: ENSMUSP00000138347
Gene: ENSMUSG00000069601
AA Change: Q483L
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000182474
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000182884
AA Change: Q483L
|
| SMART Domains |
Protein: ENSMUSP00000138326
Gene: ENSMUSG00000069601
AA Change: Q483L
| 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 damaging
Transcript: ENSMUST00000182992
AA Change: Q508L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138686
Gene: ENSMUSG00000069601
AA Change: Q508L
| 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 damaging
Transcript: ENSMUST00000183148
AA Change: Q483L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138770
Gene: ENSMUSG00000069601
AA Change: Q483L
| 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 damaging
Transcript: ENSMUST00000183169
AA Change: Q483L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138348
Gene: ENSMUSG00000069601
AA Change: Q483L
| 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 |
possibly damaging
Transcript: ENSMUST00000218680
AA Change: Q494L
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.2496 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
100% (116/116) |
| 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: 118 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610009O20Rik |
T |
C |
18: 38,254,071 (GRCm38) |
|
probably null |
Het |
| A630095E13Rik |
A |
T |
9: 36,638,577 (GRCm38) |
|
probably null |
Het |
| Abca13 |
G |
T |
11: 9,294,559 (GRCm38) |
V2141L |
probably benign |
Het |
| Adam17 |
T |
C |
12: 21,340,458 (GRCm38) |
|
probably benign |
Het |
| Adam3 |
A |
T |
8: 24,695,315 (GRCm38) |
C456S |
probably damaging |
Het |
| AI464131 |
A |
G |
4: 41,498,538 (GRCm38) |
F364S |
probably damaging |
Het |
| Aldh4a1 |
G |
T |
4: 139,642,571 (GRCm38) |
|
probably benign |
Het |
| Anapc4 |
A |
G |
5: 52,842,017 (GRCm38) |
|
probably benign |
Het |
| Ankle2 |
A |
G |
5: 110,242,059 (GRCm38) |
|
probably benign |
Het |
| Ankrd13b |
T |
A |
11: 77,473,288 (GRCm38) |
T150S |
possibly damaging |
Het |
| Apeh |
A |
G |
9: 108,087,055 (GRCm38) |
M524T |
probably benign |
Het |
| Arl14epl |
T |
A |
18: 46,926,417 (GRCm38) |
|
probably null |
Het |
| Atg2a |
T |
C |
19: 6,252,539 (GRCm38) |
F964S |
possibly damaging |
Het |
| Atg2b |
C |
T |
12: 105,617,153 (GRCm38) |
V2050M |
probably damaging |
Het |
| Atp2b4 |
A |
T |
1: 133,732,218 (GRCm38) |
|
probably benign |
Het |
| Bbof1 |
T |
A |
12: 84,430,271 (GRCm38) |
S512T |
probably benign |
Het |
| BC055324 |
T |
C |
1: 163,971,843 (GRCm38) |
|
probably null |
Het |
| C130079G13Rik |
A |
G |
3: 59,936,350 (GRCm38) |
H155R |
possibly damaging |
Het |
| Camta1 |
C |
A |
4: 151,075,140 (GRCm38) |
R1614L |
probably damaging |
Het |
| Car10 |
T |
C |
11: 93,490,582 (GRCm38) |
Y100H |
probably damaging |
Het |
| Ccdc81 |
T |
A |
7: 89,893,296 (GRCm38) |
E124V |
probably damaging |
Het |
| Cd84 |
A |
G |
1: 171,872,927 (GRCm38) |
T204A |
probably benign |
Het |
| Celf2 |
A |
G |
2: 6,604,176 (GRCm38) |
S178P |
probably damaging |
Het |
| Chat |
G |
A |
14: 32,409,019 (GRCm38) |
T555M |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,992,191 (GRCm38) |
F917S |
probably damaging |
Het |
| Chrna2 |
C |
A |
14: 66,149,104 (GRCm38) |
T233N |
probably damaging |
Het |
| Cnpy2 |
T |
C |
10: 128,326,185 (GRCm38) |
V109A |
probably benign |
Het |
| Col4a1 |
T |
C |
8: 11,208,333 (GRCm38) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,932,529 (GRCm38) |
V2713M |
possibly damaging |
Het |
| Cuedc1 |
G |
A |
11: 88,183,405 (GRCm38) |
R255Q |
probably damaging |
Het |
| Cxcl15 |
A |
T |
5: 90,798,038 (GRCm38) |
|
probably benign |
Het |
| Dach1 |
A |
T |
14: 97,901,329 (GRCm38) |
H559Q |
possibly damaging |
Het |
| Dennd4c |
C |
T |
4: 86,826,022 (GRCm38) |
T1367M |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 32,945,028 (GRCm38) |
Y365* |
probably null |
Het |
| Dicer1 |
T |
C |
12: 104,702,841 (GRCm38) |
Y1194C |
possibly damaging |
Het |
| Dmxl1 |
C |
G |
18: 49,891,467 (GRCm38) |
S1736* |
probably null |
Het |
| Dnah7a |
C |
T |
1: 53,497,126 (GRCm38) |
R2586K |
probably benign |
Het |
| Dnajb8 |
T |
C |
6: 88,222,485 (GRCm38) |
M1T |
probably null |
Het |
| Dync2h1 |
G |
A |
9: 7,122,692 (GRCm38) |
P2088L |
probably benign |
Het |
| Eftud2 |
T |
G |
11: 102,844,222 (GRCm38) |
H617P |
probably damaging |
Het |
| Ephb1 |
A |
G |
9: 101,995,980 (GRCm38) |
|
probably benign |
Het |
| Fam184a |
G |
T |
10: 53,698,879 (GRCm38) |
H155Q |
probably benign |
Het |
| Ganc |
G |
T |
2: 120,448,401 (GRCm38) |
E700* |
probably null |
Het |
| Gm10912 |
A |
G |
2: 104,066,945 (GRCm38) |
|
probably benign |
Het |
| Gm9047 |
G |
T |
6: 29,478,170 (GRCm38) |
|
probably benign |
Het |
| Haus5 |
A |
T |
7: 30,659,067 (GRCm38) |
I294N |
probably damaging |
Het |
| Hmgcr |
G |
T |
13: 96,660,143 (GRCm38) |
|
probably null |
Het |
| Hr |
T |
A |
14: 70,561,912 (GRCm38) |
C641* |
probably null |
Het |
| Itga10 |
A |
G |
3: 96,658,174 (GRCm38) |
N1038S |
probably damaging |
Het |
| Itgb1bp1 |
T |
G |
12: 21,271,435 (GRCm38) |
Y172S |
probably damaging |
Het |
| Kprp |
T |
C |
3: 92,824,723 (GRCm38) |
N340S |
probably damaging |
Het |
| Kremen1 |
A |
G |
11: 5,215,447 (GRCm38) |
I41T |
probably damaging |
Het |
| Krt6b |
A |
G |
15: 101,677,607 (GRCm38) |
|
probably benign |
Het |
| Krt81 |
C |
A |
15: 101,463,627 (GRCm38) |
R24L |
possibly damaging |
Het |
| Ldhd |
A |
G |
8: 111,629,677 (GRCm38) |
Y86H |
probably benign |
Het |
| Lilra6 |
A |
T |
7: 3,912,785 (GRCm38) |
I76N |
possibly damaging |
Het |
| Mak |
T |
C |
13: 41,046,267 (GRCm38) |
T299A |
probably benign |
Het |
| Med25 |
A |
G |
7: 44,885,078 (GRCm38) |
|
probably null |
Het |
| Mpg |
A |
T |
11: 32,230,039 (GRCm38) |
N189I |
probably damaging |
Het |
| Mroh8 |
A |
G |
2: 157,229,918 (GRCm38) |
Y556H |
probably damaging |
Het |
| Myh8 |
T |
A |
11: 67,284,507 (GRCm38) |
S294T |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,084,317 (GRCm38) |
D842E |
probably benign |
Het |
| Nat2 |
C |
T |
8: 67,501,330 (GRCm38) |
Q31* |
probably null |
Het |
| Nf1 |
T |
A |
11: 79,438,769 (GRCm38) |
M653K |
probably benign |
Het |
| Nhs |
C |
A |
X: 161,837,359 (GRCm38) |
R1467I |
probably damaging |
Het |
| Npr2 |
A |
G |
4: 43,632,801 (GRCm38) |
E206G |
probably benign |
Het |
| Nsd3 |
G |
A |
8: 25,678,716 (GRCm38) |
G629D |
possibly damaging |
Het |
| Nwd1 |
G |
A |
8: 72,682,005 (GRCm38) |
C831Y |
probably damaging |
Het |
| Olfr1094 |
A |
G |
2: 86,829,606 (GRCm38) |
I285V |
probably benign |
Het |
| Olfr584 |
T |
C |
7: 103,085,851 (GRCm38) |
I111T |
probably damaging |
Het |
| P2ry14 |
A |
G |
3: 59,116,028 (GRCm38) |
S4P |
possibly damaging |
Het |
| Parp4 |
A |
G |
14: 56,635,715 (GRCm38) |
|
probably benign |
Het |
| Pclo |
A |
G |
5: 14,678,285 (GRCm38) |
|
probably benign |
Het |
| Pclo |
T |
C |
5: 14,679,398 (GRCm38) |
|
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,404,595 (GRCm38) |
S1202T |
possibly damaging |
Het |
| Pfkfb4 |
A |
G |
9: 109,027,757 (GRCm38) |
Y412C |
probably damaging |
Het |
| Pgm1 |
T |
A |
5: 64,110,555 (GRCm38) |
V449D |
probably damaging |
Het |
| Poldip3 |
T |
A |
15: 83,138,235 (GRCm38) |
D116V |
probably damaging |
Het |
| Pom121 |
G |
T |
5: 135,381,832 (GRCm38) |
Q824K |
unknown |
Het |
| Prkdc |
G |
T |
16: 15,831,282 (GRCm38) |
G3707* |
probably null |
Het |
| Prr14l |
T |
C |
5: 32,844,216 (GRCm38) |
|
probably benign |
Het |
| Ptbp2 |
T |
G |
3: 119,720,964 (GRCm38) |
I405L |
probably benign |
Het |
| Rad21l |
A |
T |
2: 151,649,069 (GRCm38) |
|
probably benign |
Het |
| Rbm6 |
G |
A |
9: 107,847,289 (GRCm38) |
Q488* |
probably null |
Het |
| Rdh1 |
T |
A |
10: 127,764,783 (GRCm38) |
M225K |
probably benign |
Het |
| Recql5 |
T |
C |
11: 115,928,383 (GRCm38) |
D119G |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,110,324 (GRCm38) |
|
probably benign |
Het |
| Robo1 |
T |
C |
16: 73,013,125 (GRCm38) |
|
probably null |
Het |
| Samd12 |
G |
A |
15: 53,860,171 (GRCm38) |
T42I |
probably benign |
Het |
| Scn10a |
A |
T |
9: 119,613,700 (GRCm38) |
M1494K |
probably damaging |
Het |
| Sec31a |
G |
A |
5: 100,375,240 (GRCm38) |
P864L |
probably benign |
Het |
| Senp2 |
T |
C |
16: 22,036,570 (GRCm38) |
V344A |
probably benign |
Het |
| Serpina5 |
G |
A |
12: 104,103,362 (GRCm38) |
D278N |
probably benign |
Het |
| Sh3tc1 |
A |
T |
5: 35,703,462 (GRCm38) |
V1017D |
probably damaging |
Het |
| Sin3a |
T |
A |
9: 57,096,895 (GRCm38) |
Y310* |
probably null |
Het |
| Slc25a32 |
T |
C |
15: 39,097,545 (GRCm38) |
T248A |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 72,492,571 (GRCm38) |
|
probably benign |
Het |
| Slc4a10 |
G |
A |
2: 62,286,862 (GRCm38) |
V722M |
probably damaging |
Het |
| Slco1a4 |
A |
G |
6: 141,830,860 (GRCm38) |
|
probably benign |
Het |
| Smg6 |
T |
A |
11: 74,929,058 (GRCm38) |
Y52N |
probably damaging |
Het |
| Sncb |
T |
G |
13: 54,765,587 (GRCm38) |
T33P |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,583,984 (GRCm38) |
|
probably null |
Het |
| Sugp1 |
A |
G |
8: 70,059,363 (GRCm38) |
E203G |
probably damaging |
Het |
| Suv39h2 |
A |
T |
2: 3,472,579 (GRCm38) |
C105S |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 64,926,620 (GRCm38) |
F205I |
probably damaging |
Het |
| Tnip1 |
A |
T |
11: 54,917,873 (GRCm38) |
M496K |
probably damaging |
Het |
| Tnxb |
G |
A |
17: 34,718,245 (GRCm38) |
E2889K |
probably damaging |
Het |
| Trim30b |
T |
A |
7: 104,365,803 (GRCm38) |
H126L |
possibly damaging |
Het |
| Trpm7 |
A |
T |
2: 126,826,718 (GRCm38) |
Y759* |
probably null |
Het |
| Ttc17 |
A |
G |
2: 94,323,120 (GRCm38) |
I1000T |
possibly damaging |
Het |
| Ttc27 |
A |
T |
17: 74,718,715 (GRCm38) |
N61I |
probably benign |
Het |
| Uba6 |
T |
C |
5: 86,112,750 (GRCm38) |
Y990C |
probably damaging |
Het |
| Vav3 |
A |
G |
3: 109,664,440 (GRCm38) |
|
probably benign |
Het |
| Vmn2r55 |
C |
T |
7: 12,671,018 (GRCm38) |
A153T |
possibly damaging |
Het |
| Wars2 |
A |
G |
3: 99,216,549 (GRCm38) |
D242G |
probably damaging |
Het |
| Xylt2 |
G |
A |
11: 94,669,936 (GRCm38) |
Q259* |
probably null |
Het |
| Zfp27 |
G |
A |
7: 29,894,522 (GRCm38) |
P673S |
probably damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,584,660 (GRCm38) |
I1023T |
possibly damaging |
Het |
|
| Other mutations in Ank3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Ank3
|
APN |
10 |
69,982,205 (GRCm38) |
splice site |
probably benign |
|
|
IGL00578:Ank3
|
APN |
10 |
70,002,394 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL00851:Ank3
|
APN |
10 |
69,874,833 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01067:Ank3
|
APN |
10 |
69,850,196 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01483:Ank3
|
APN |
10 |
69,874,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01549:Ank3
|
APN |
10 |
69,932,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01576:Ank3
|
APN |
10 |
69,980,291 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01601:Ank3
|
APN |
10 |
70,004,725 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL02047:Ank3
|
APN |
10 |
69,892,494 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02088:Ank3
|
APN |
10 |
69,999,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02159:Ank3
|
APN |
10 |
69,808,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02249:Ank3
|
APN |
10 |
69,882,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02942:Ank3
|
APN |
10 |
69,973,877 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02979:Ank3
|
APN |
10 |
70,002,099 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03379:Ank3
|
APN |
10 |
69,973,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4495001:Ank3
|
UTSW |
10 |
69,993,072 (GRCm38) |
missense |
|
|
|
R0011:Ank3
|
UTSW |
10 |
69,979,451 (GRCm38) |
splice site |
probably benign |
|
|
R0011:Ank3
|
UTSW |
10 |
69,979,451 (GRCm38) |
splice site |
probably benign |
|
|
R0172:Ank3
|
UTSW |
10 |
69,976,058 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0315:Ank3
|
UTSW |
10 |
70,002,517 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0480:Ank3
|
UTSW |
10 |
69,879,926 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0485:Ank3
|
UTSW |
10 |
69,882,544 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1148:Ank3
|
UTSW |
10 |
69,882,539 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1148:Ank3
|
UTSW |
10 |
69,882,539 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1165:Ank3
|
UTSW |
10 |
69,898,302 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1186:Ank3
|
UTSW |
10 |
69,867,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1257:Ank3
|
UTSW |
10 |
69,874,835 (GRCm38) |
nonsense |
probably null |
|
|
R1300:Ank3
|
UTSW |
10 |
70,004,665 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1391:Ank3
|
UTSW |
10 |
69,534,280 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R1549:Ank3
|
UTSW |
10 |
70,001,982 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1586:Ank3
|
UTSW |
10 |
69,877,878 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1619:Ank3
|
UTSW |
10 |
69,879,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1643:Ank3
|
UTSW |
10 |
69,884,802 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1874:Ank3
|
UTSW |
10 |
69,898,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1884:Ank3
|
UTSW |
10 |
70,015,592 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1901:Ank3
|
UTSW |
10 |
69,822,337 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1986:Ank3
|
UTSW |
10 |
69,867,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2051:Ank3
|
UTSW |
10 |
69,898,090 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2273:Ank3
|
UTSW |
10 |
69,950,942 (GRCm38) |
splice site |
probably null |
|
|
R2274:Ank3
|
UTSW |
10 |
69,950,942 (GRCm38) |
splice site |
probably null |
|
|
R2421:Ank3
|
UTSW |
10 |
69,982,204 (GRCm38) |
splice site |
probably benign |
|
|
R2434:Ank3
|
UTSW |
10 |
70,002,118 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2969:Ank3
|
UTSW |
10 |
69,994,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3426:Ank3
|
UTSW |
10 |
69,706,894 (GRCm38) |
missense |
probably benign |
|
|
R3885:Ank3
|
UTSW |
10 |
69,899,036 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3936:Ank3
|
UTSW |
10 |
69,879,989 (GRCm38) |
nonsense |
probably null |
|
|
R4258:Ank3
|
UTSW |
10 |
70,004,762 (GRCm38) |
missense |
probably benign |
0.33 |
|
R4320:Ank3
|
UTSW |
10 |
69,904,246 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R4434:Ank3
|
UTSW |
10 |
69,987,070 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4435:Ank3
|
UTSW |
10 |
69,987,070 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4486:Ank3
|
UTSW |
10 |
70,001,974 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4489:Ank3
|
UTSW |
10 |
69,898,256 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4492:Ank3
|
UTSW |
10 |
69,808,925 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4508:Ank3
|
UTSW |
10 |
69,892,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4561:Ank3
|
UTSW |
10 |
70,002,018 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4724:Ank3
|
UTSW |
10 |
69,706,858 (GRCm38) |
missense |
probably benign |
|
|
R4751:Ank3
|
UTSW |
10 |
69,986,206 (GRCm38) |
missense |
probably benign |
0.19 |
|
R4790:Ank3
|
UTSW |
10 |
69,988,151 (GRCm38) |
nonsense |
probably null |
|
|
R4795:Ank3
|
UTSW |
10 |
69,858,265 (GRCm38) |
missense |
probably benign |
0.36 |
|
R4921:Ank3
|
UTSW |
10 |
70,002,109 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4932:Ank3
|
UTSW |
10 |
69,898,223 (GRCm38) |
splice site |
probably null |
|
|
R4935:Ank3
|
UTSW |
10 |
69,976,203 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4946:Ank3
|
UTSW |
10 |
69,898,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5174:Ank3
|
UTSW |
10 |
69,892,379 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5208:Ank3
|
UTSW |
10 |
70,002,565 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5248:Ank3
|
UTSW |
10 |
69,987,108 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5255:Ank3
|
UTSW |
10 |
69,885,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5307:Ank3
|
UTSW |
10 |
70,002,565 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5308:Ank3
|
UTSW |
10 |
70,002,565 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5373:Ank3
|
UTSW |
10 |
69,953,476 (GRCm38) |
splice site |
probably null |
|
|
R5374:Ank3
|
UTSW |
10 |
69,953,476 (GRCm38) |
splice site |
probably null |
|
|
R5502:Ank3
|
UTSW |
10 |
69,920,461 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5508:Ank3
|
UTSW |
10 |
70,002,565 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5509:Ank3
|
UTSW |
10 |
70,002,565 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5510:Ank3
|
UTSW |
10 |
70,002,565 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5538:Ank3
|
UTSW |
10 |
69,987,427 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5664:Ank3
|
UTSW |
10 |
70,002,565 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5665:Ank3
|
UTSW |
10 |
70,002,565 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5682:Ank3
|
UTSW |
10 |
69,893,517 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5834:Ank3
|
UTSW |
10 |
69,822,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5881:Ank3
|
UTSW |
10 |
69,986,830 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5914:Ank3
|
UTSW |
10 |
69,992,944 (GRCm38) |
intron |
probably benign |
|
|
R5940:Ank3
|
UTSW |
10 |
69,920,486 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5952:Ank3
|
UTSW |
10 |
69,986,463 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5963:Ank3
|
UTSW |
10 |
69,987,226 (GRCm38) |
nonsense |
probably null |
|
|
R6075:Ank3
|
UTSW |
10 |
70,002,565 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6076:Ank3
|
UTSW |
10 |
70,002,565 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6077:Ank3
|
UTSW |
10 |
70,002,565 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6081:Ank3
|
UTSW |
10 |
70,002,565 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6092:Ank3
|
UTSW |
10 |
70,002,565 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6118:Ank3
|
UTSW |
10 |
69,994,401 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6135:Ank3
|
UTSW |
10 |
70,002,565 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6175:Ank3
|
UTSW |
10 |
69,927,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6248:Ank3
|
UTSW |
10 |
69,973,850 (GRCm38) |
missense |
probably benign |
0.10 |
|
R6249:Ank3
|
UTSW |
10 |
69,823,076 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6273:Ank3
|
UTSW |
10 |
70,002,565 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6274:Ank3
|
UTSW |
10 |
70,002,565 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6290:Ank3
|
UTSW |
10 |
69,991,368 (GRCm38) |
intron |
probably benign |
|
|
R6298:Ank3
|
UTSW |
10 |
69,850,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6349:Ank3
|
UTSW |
10 |
69,979,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6366:Ank3
|
UTSW |
10 |
69,999,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6371:Ank3
|
UTSW |
10 |
69,808,879 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6459:Ank3
|
UTSW |
10 |
69,991,747 (GRCm38) |
intron |
probably benign |
|
|
R6489:Ank3
|
UTSW |
10 |
69,991,629 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6491:Ank3
|
UTSW |
10 |
69,991,629 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6499:Ank3
|
UTSW |
10 |
69,991,744 (GRCm38) |
intron |
probably benign |
|
|
R6520:Ank3
|
UTSW |
10 |
69,988,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6521:Ank3
|
UTSW |
10 |
69,992,766 (GRCm38) |
intron |
probably benign |
|
|
R6535:Ank3
|
UTSW |
10 |
69,877,854 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6548:Ank3
|
UTSW |
10 |
69,892,410 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6587:Ank3
|
UTSW |
10 |
69,990,152 (GRCm38) |
intron |
probably benign |
|
|
R6624:Ank3
|
UTSW |
10 |
69,904,468 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R6722:Ank3
|
UTSW |
10 |
69,990,244 (GRCm38) |
intron |
probably benign |
|
|
R6729:Ank3
|
UTSW |
10 |
69,808,925 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6731:Ank3
|
UTSW |
10 |
70,014,028 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R6742:Ank3
|
UTSW |
10 |
69,991,582 (GRCm38) |
intron |
probably benign |
|
|
R6788:Ank3
|
UTSW |
10 |
70,004,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6846:Ank3
|
UTSW |
10 |
69,824,349 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6933:Ank3
|
UTSW |
10 |
69,904,212 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7034:Ank3
|
UTSW |
10 |
69,999,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7036:Ank3
|
UTSW |
10 |
69,999,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7132:Ank3
|
UTSW |
10 |
69,989,914 (GRCm38) |
missense |
|
|
|
R7171:Ank3
|
UTSW |
10 |
69,992,481 (GRCm38) |
missense |
|
|
|
R7241:Ank3
|
UTSW |
10 |
69,706,814 (GRCm38) |
start codon destroyed |
probably null |
0.11 |
|
R7386:Ank3
|
UTSW |
10 |
69,822,249 (GRCm38) |
missense |
unknown |
|
|
R7445:Ank3
|
UTSW |
10 |
69,992,124 (GRCm38) |
missense |
|
|
|
R7452:Ank3
|
UTSW |
10 |
69,899,051 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7492:Ank3
|
UTSW |
10 |
69,882,527 (GRCm38) |
missense |
unknown |
|
|
R7494:Ank3
|
UTSW |
10 |
69,988,926 (GRCm38) |
missense |
|
|
|
R7512:Ank3
|
UTSW |
10 |
69,990,861 (GRCm38) |
missense |
|
|
|
R7543:Ank3
|
UTSW |
10 |
69,951,016 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R7577:Ank3
|
UTSW |
10 |
69,992,572 (GRCm38) |
missense |
|
|
|
R7610:Ank3
|
UTSW |
10 |
69,986,422 (GRCm38) |
missense |
|
|
|
R7673:Ank3
|
UTSW |
10 |
69,990,501 (GRCm38) |
missense |
|
|
|
R7682:Ank3
|
UTSW |
10 |
69,988,235 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7814:Ank3
|
UTSW |
10 |
69,986,904 (GRCm38) |
missense |
|
|
|
R7835:Ank3
|
UTSW |
10 |
69,987,727 (GRCm38) |
missense |
|
|
|
R7843:Ank3
|
UTSW |
10 |
69,986,958 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7891:Ank3
|
UTSW |
10 |
69,988,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8109:Ank3
|
UTSW |
10 |
69,990,318 (GRCm38) |
missense |
|
|
|
R8175:Ank3
|
UTSW |
10 |
69,893,509 (GRCm38) |
missense |
unknown |
|
|
R8210:Ank3
|
UTSW |
10 |
69,976,095 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R8211:Ank3
|
UTSW |
10 |
69,867,398 (GRCm38) |
missense |
unknown |
|
|
R8299:Ank3
|
UTSW |
10 |
69,976,151 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8302:Ank3
|
UTSW |
10 |
70,004,980 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R8516:Ank3
|
UTSW |
10 |
69,927,729 (GRCm38) |
nonsense |
probably null |
|
|
R8543:Ank3
|
UTSW |
10 |
70,002,436 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8549:Ank3
|
UTSW |
10 |
69,982,182 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R8726:Ank3
|
UTSW |
10 |
69,987,254 (GRCm38) |
missense |
|
|
|
R8729:Ank3
|
UTSW |
10 |
70,002,598 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R8735:Ank3
|
UTSW |
10 |
69,986,955 (GRCm38) |
missense |
probably benign |
0.24 |
|
R8751:Ank3
|
UTSW |
10 |
69,926,019 (GRCm38) |
intron |
probably benign |
|
|
R8788:Ank3
|
UTSW |
10 |
69,882,426 (GRCm38) |
missense |
unknown |
|
|
R8875:Ank3
|
UTSW |
10 |
69,824,403 (GRCm38) |
missense |
unknown |
|
|
R8919:Ank3
|
UTSW |
10 |
70,004,841 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R8932:Ank3
|
UTSW |
10 |
69,824,462 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9053:Ank3
|
UTSW |
10 |
69,986,559 (GRCm38) |
missense |
|
|
|
R9064:Ank3
|
UTSW |
10 |
69,986,355 (GRCm38) |
missense |
|
|
|
R9084:Ank3
|
UTSW |
10 |
69,951,049 (GRCm38) |
missense |
probably benign |
0.12 |
|
R9160:Ank3
|
UTSW |
10 |
70,002,474 (GRCm38) |
missense |
unknown |
|
|
R9275:Ank3
|
UTSW |
10 |
69,986,832 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9280:Ank3
|
UTSW |
10 |
69,982,191 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R9300:Ank3
|
UTSW |
10 |
69,871,042 (GRCm38) |
missense |
unknown |
|
|
R9302:Ank3
|
UTSW |
10 |
69,926,019 (GRCm38) |
intron |
probably benign |
|
|
R9327:Ank3
|
UTSW |
10 |
69,976,256 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9336:Ank3
|
UTSW |
10 |
69,973,748 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9345:Ank3
|
UTSW |
10 |
69,926,069 (GRCm38) |
intron |
probably benign |
|
|
R9368:Ank3
|
UTSW |
10 |
69,987,499 (GRCm38) |
missense |
|
|
|
R9406:Ank3
|
UTSW |
10 |
69,809,181 (GRCm38) |
missense |
unknown |
|
|
R9491:Ank3
|
UTSW |
10 |
70,002,509 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9573:Ank3
|
UTSW |
10 |
69,956,147 (GRCm38) |
nonsense |
probably null |
|
|
R9674:Ank3
|
UTSW |
10 |
69,988,719 (GRCm38) |
missense |
|
|
|
R9710:Ank3
|
UTSW |
10 |
69,993,240 (GRCm38) |
missense |
|
|
|
R9720:Ank3
|
UTSW |
10 |
69,989,505 (GRCm38) |
missense |
|
|
|
R9767:Ank3
|
UTSW |
10 |
69,987,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9800:Ank3
|
UTSW |
10 |
69,898,127 (GRCm38) |
missense |
unknown |
|
|
Z1176:Ank3
|
UTSW |
10 |
69,991,215 (GRCm38) |
missense |
|
|
|
Z1176:Ank3
|
UTSW |
10 |
69,951,010 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
Z1176:Ank3
|
UTSW |
10 |
69,932,474 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGATGCACAGCTTGACAAATTC -3'
(R):5'- ATGATCCAGGAGGAACGCAGCTAC -3'
Sequencing Primer
(F):5'- TTCAGAAGGCATGACCTCTGC -3'
(R):5'- GCAGCTACATCCTCATGCC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation