Incidental Mutation 'R1148:Ank3'
| ID | 102530 |
|---|
| 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 |
039221-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Probably essential (E-score: 0.858)
|
|---|
| Stock # | R1148 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 10 |
|---|
| Chromosomal Location | 69398773-70027438 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
C to T
at 69882539 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Serine to Phenylalanine
at position 540
(S540F)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138770
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047061]
[ENSMUST00000054167]
[ENSMUST00000092431]
[ENSMUST00000092432]
[ENSMUST00000092434]
[ENSMUST00000182155]
[ENSMUST00000182439]
[ENSMUST00000182884]
[ENSMUST00000182992]
[ENSMUST00000183148]
[ENSMUST00000183169]
[ENSMUST00000218680]
|
|---|
| 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: S540F
|
|---|
| SMART Domains |
Protein: ENSMUSP00000061698
Gene: ENSMUSG00000069601
AA Change: S540F
| 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: S540F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000090087
Gene: ENSMUSG00000069601
AA Change: S540F
| 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 damaging
Transcript: ENSMUST00000092432
AA Change: S540F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000090088
Gene: ENSMUSG00000069601
AA Change: S540F
| 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: S540F
|
|---|
| SMART Domains |
Protein: ENSMUSP00000090090
Gene: ENSMUSG00000069601
AA Change: S540F
| 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: S540F
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138347
Gene: ENSMUSG00000069601
AA Change: S540F
| 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: S540F
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138326
Gene: ENSMUSG00000069601
AA Change: S540F
| 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: S565F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138686
Gene: ENSMUSG00000069601
AA Change: S565F
| 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: S540F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138770
Gene: ENSMUSG00000069601
AA Change: S540F
| 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 |
possibly damaging
Transcript: ENSMUST00000183169
AA Change: S540F
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138348
Gene: ENSMUSG00000069601
AA Change: S540F
| 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 damaging
Transcript: ENSMUST00000218680
AA Change: S551F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
|---|
| Meta Mutation Damage Score |
0.2699
|
|---|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 97.8%
- 10x: 90.3%
- 20x: 69.2%
|
|---|
| Validation Efficiency |
100% (35/35) |
|---|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
C |
11: 58,876,718 |
S14P |
probably damaging |
Het |
| Ablim2 |
T |
C |
5: 35,809,261 |
F178S |
probably damaging |
Het |
| Alg10b |
T |
C |
15: 90,227,865 |
F304S |
possibly damaging |
Het |
| Arhgef16 |
T |
C |
4: 154,280,889 |
N590D |
probably benign |
Het |
| Arsi |
G |
A |
18: 60,916,651 |
G202E |
probably benign |
Het |
| Cfap58 |
C |
T |
19: 47,988,504 |
H731Y |
probably damaging |
Het |
| Cilp |
T |
A |
9: 65,280,316 |
L1231Q |
possibly damaging |
Het |
| Cyp4x1 |
A |
G |
4: 115,126,555 |
|
probably benign |
Het |
| Disp2 |
G |
A |
2: 118,806,418 |
|
probably null |
Het |
| Dnah5 |
T |
C |
15: 28,421,690 |
L3896P |
probably damaging |
Het |
| Dpp8 |
T |
C |
9: 65,053,832 |
|
probably null |
Het |
| Esp4 |
A |
C |
17: 40,602,371 |
N43T |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,996,774 |
D2644G |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 91,987,631 |
K124E |
probably benign |
Het |
| Folh1 |
T |
C |
7: 86,761,730 |
D268G |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 119,160,716 |
|
probably null |
Het |
| Hexdc |
A |
G |
11: 121,221,267 |
I438V |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 86,636,540 |
E262G |
probably benign |
Het |
| Ly6h |
G |
T |
15: 75,565,172 |
S118R |
unknown |
Het |
| Mapk12 |
T |
C |
15: 89,134,623 |
Y203C |
probably damaging |
Het |
| Mapk15 |
A |
G |
15: 75,998,155 |
T375A |
probably benign |
Het |
| Morc2a |
A |
G |
11: 3,678,557 |
N337D |
probably benign |
Het |
| Nsd3 |
A |
G |
8: 25,713,380 |
D1307G |
probably benign |
Het |
| Olfr1009 |
C |
A |
2: 85,722,276 |
Y290* |
probably null |
Het |
| Osbpl11 |
T |
C |
16: 33,227,212 |
F515S |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,170,560 |
V90A |
probably damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,684,540 |
D41G |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,579,849 |
Y445H |
probably benign |
Het |
| Sez6l2 |
C |
A |
7: 126,961,812 |
P483Q |
probably damaging |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,177,419 |
|
probably benign |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,146,254 |
|
probably null |
Het |
| Sgo2b |
A |
G |
8: 63,926,855 |
L981P |
probably damaging |
Het |
| Sh3d19 |
A |
G |
3: 86,107,327 |
D475G |
possibly damaging |
Het |
| Shprh |
T |
C |
10: 11,213,482 |
S1655P |
possibly damaging |
Het |
| Slc25a12 |
G |
A |
2: 71,312,568 |
|
probably benign |
Het |
| Strc |
A |
G |
2: 121,372,077 |
|
probably benign |
Het |
| Ttc22 |
G |
A |
4: 106,623,031 |
V161M |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,112,667 |
L1504P |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,241,291 |
N514S |
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 |
|
R1165:Ank3
|
UTSW |
10 |
69898302 |
missense |
possibly damaging |
0.90 |
|
R1186:Ank3
|
UTSW |
10 |
69867460 |
missense |
probably damaging |
1.00 |
|
R1257:Ank3
|
UTSW |
10 |
69874835 |
nonsense |
probably null |
|
|
R1300:Ank3
|
UTSW |
10 |
70004665 |
missense |
probably benign |
0.03 |
|
R1391:Ank3
|
UTSW |
10 |
69534280 |
missense |
possibly damaging |
0.96 |
|
R1549:Ank3
|
UTSW |
10 |
70001982 |
missense |
probably benign |
0.18 |
|
R1586:Ank3
|
UTSW |
10 |
69877878 |
missense |
probably damaging |
0.98 |
|
R1619:Ank3
|
UTSW |
10 |
69879975 |
missense |
probably damaging |
1.00 |
|
R1643:Ank3
|
UTSW |
10 |
69884802 |
missense |
probably benign |
0.00 |
|
R1874:Ank3
|
UTSW |
10 |
69898083 |
missense |
probably damaging |
1.00 |
|
R1884:Ank3
|
UTSW |
10 |
70015592 |
missense |
possibly damaging |
0.53 |
|
R1901:Ank3
|
UTSW |
10 |
69822337 |
missense |
probably damaging |
1.00 |
|
R1986:Ank3
|
UTSW |
10 |
69867428 |
missense |
probably damaging |
1.00 |
|
R2051:Ank3
|
UTSW |
10 |
69898090 |
missense |
probably damaging |
0.97 |
|
R2273:Ank3
|
UTSW |
10 |
69950942 |
splice site |
probably null |
|
|
R2274:Ank3
|
UTSW |
10 |
69950942 |
splice site |
probably null |
|
|
R2421:Ank3
|
UTSW |
10 |
69982204 |
splice site |
probably benign |
|
|
R2434:Ank3
|
UTSW |
10 |
70002118 |
missense |
probably damaging |
1.00 |
|
R2969:Ank3
|
UTSW |
10 |
69994395 |
missense |
probably damaging |
1.00 |
|
R3426:Ank3
|
UTSW |
10 |
69706894 |
missense |
probably benign |
|
|
R3885:Ank3
|
UTSW |
10 |
69899036 |
missense |
probably damaging |
1.00 |
|
R3936:Ank3
|
UTSW |
10 |
69879989 |
nonsense |
probably null |
|
|
R4258:Ank3
|
UTSW |
10 |
70004762 |
missense |
probably benign |
0.33 |
|
R4320:Ank3
|
UTSW |
10 |
69904246 |
missense |
possibly damaging |
0.70 |
|
R4434:Ank3
|
UTSW |
10 |
69987070 |
missense |
probably damaging |
0.99 |
|
R4435:Ank3
|
UTSW |
10 |
69987070 |
missense |
probably damaging |
0.99 |
|
R4486:Ank3
|
UTSW |
10 |
70001974 |
missense |
possibly damaging |
0.86 |
|
R4489:Ank3
|
UTSW |
10 |
69898256 |
missense |
probably damaging |
1.00 |
|
R4492:Ank3
|
UTSW |
10 |
69808925 |
missense |
probably damaging |
1.00 |
|
R4508:Ank3
|
UTSW |
10 |
69892370 |
missense |
probably damaging |
1.00 |
|
R4561:Ank3
|
UTSW |
10 |
70002018 |
missense |
probably damaging |
0.99 |
|
R4724:Ank3
|
UTSW |
10 |
69706858 |
missense |
probably benign |
|
|
R4751:Ank3
|
UTSW |
10 |
69986206 |
missense |
probably benign |
0.19 |
|
R4790:Ank3
|
UTSW |
10 |
69988151 |
nonsense |
probably null |
|
|
R4795:Ank3
|
UTSW |
10 |
69858265 |
missense |
probably benign |
0.36 |
|
R4921:Ank3
|
UTSW |
10 |
70002109 |
missense |
probably damaging |
1.00 |
|
R4932:Ank3
|
UTSW |
10 |
69898223 |
splice site |
probably null |
|
|
R4935:Ank3
|
UTSW |
10 |
69976203 |
missense |
probably damaging |
0.99 |
|
R4946:Ank3
|
UTSW |
10 |
69898117 |
missense |
probably damaging |
1.00 |
|
R5174:Ank3
|
UTSW |
10 |
69892379 |
missense |
probably damaging |
0.99 |
|
R5208:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R5248:Ank3
|
UTSW |
10 |
69987108 |
missense |
probably benign |
0.00 |
|
R5255:Ank3
|
UTSW |
10 |
69885200 |
missense |
probably damaging |
1.00 |
|
R5307:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R5308:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R5373:Ank3
|
UTSW |
10 |
69953476 |
splice site |
probably null |
|
|
R5374:Ank3
|
UTSW |
10 |
69953476 |
splice site |
probably null |
|
|
R5502:Ank3
|
UTSW |
10 |
69920461 |
missense |
probably benign |
0.12 |
|
R5508:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R5509:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R5510:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R5538:Ank3
|
UTSW |
10 |
69987427 |
missense |
probably damaging |
1.00 |
|
R5664:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R5665:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R5682:Ank3
|
UTSW |
10 |
69893517 |
missense |
probably damaging |
1.00 |
|
R5834:Ank3
|
UTSW |
10 |
69822257 |
missense |
probably damaging |
1.00 |
|
R5881:Ank3
|
UTSW |
10 |
69986830 |
missense |
probably benign |
0.31 |
|
R5914:Ank3
|
UTSW |
10 |
69992944 |
intron |
probably benign |
|
|
R5940:Ank3
|
UTSW |
10 |
69920486 |
missense |
probably benign |
0.00 |
|
R5952:Ank3
|
UTSW |
10 |
69986463 |
missense |
probably benign |
0.07 |
|
R5963:Ank3
|
UTSW |
10 |
69987226 |
nonsense |
probably null |
|
|
R6075:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R6076:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R6077:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R6081:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R6092:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R6118:Ank3
|
UTSW |
10 |
69994401 |
missense |
probably damaging |
0.98 |
|
R6135:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R6175:Ank3
|
UTSW |
10 |
69927727 |
missense |
probably damaging |
1.00 |
|
R6248:Ank3
|
UTSW |
10 |
69973850 |
missense |
probably benign |
0.10 |
|
R6249:Ank3
|
UTSW |
10 |
69823076 |
critical splice acceptor site |
probably null |
|
|
R6273:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R6274:Ank3
|
UTSW |
10 |
70002565 |
missense |
possibly damaging |
0.91 |
|
R6290:Ank3
|
UTSW |
10 |
69991368 |
intron |
probably benign |
|
|
R6298:Ank3
|
UTSW |
10 |
69850176 |
missense |
probably damaging |
1.00 |
|
R6349:Ank3
|
UTSW |
10 |
69979439 |
missense |
probably damaging |
1.00 |
|
R6366:Ank3
|
UTSW |
10 |
69999358 |
missense |
probably damaging |
1.00 |
|
R6371:Ank3
|
UTSW |
10 |
69808879 |
missense |
probably damaging |
1.00 |
|
R6459:Ank3
|
UTSW |
10 |
69991747 |
intron |
probably benign |
|
|
R6489:Ank3
|
UTSW |
10 |
69991629 |
missense |
probably benign |
0.00 |
|
R6491:Ank3
|
UTSW |
10 |
69991629 |
missense |
probably benign |
0.00 |
|
R6499:Ank3
|
UTSW |
10 |
69991744 |
intron |
probably benign |
|
|
R6520:Ank3
|
UTSW |
10 |
69988387 |
missense |
probably damaging |
1.00 |
|
R6521:Ank3
|
UTSW |
10 |
69992766 |
intron |
probably benign |
|
|
R6535:Ank3
|
UTSW |
10 |
69877854 |
missense |
probably damaging |
1.00 |
|
R6548:Ank3
|
UTSW |
10 |
69892410 |
missense |
probably damaging |
1.00 |
|
R6587:Ank3
|
UTSW |
10 |
69990152 |
intron |
probably benign |
|
|
R6624:Ank3
|
UTSW |
10 |
69904468 |
missense |
possibly damaging |
0.66 |
|
R6722:Ank3
|
UTSW |
10 |
69990244 |
intron |
probably benign |
|
|
R6729:Ank3
|
UTSW |
10 |
69808925 |
missense |
probably damaging |
1.00 |
|
R6731:Ank3
|
UTSW |
10 |
70014028 |
missense |
possibly damaging |
0.70 |
|
R6742:Ank3
|
UTSW |
10 |
69991582 |
intron |
probably benign |
|
|
R6788:Ank3
|
UTSW |
10 |
70004723 |
missense |
probably damaging |
1.00 |
|
R6846:Ank3
|
UTSW |
10 |
69824349 |
missense |
probably damaging |
1.00 |
|
R6933:Ank3
|
UTSW |
10 |
69904212 |
missense |
probably damaging |
1.00 |
|
R7034:Ank3
|
UTSW |
10 |
69999379 |
missense |
probably damaging |
1.00 |
|
R7036:Ank3
|
UTSW |
10 |
69999379 |
missense |
probably damaging |
1.00 |
|
R7132:Ank3
|
UTSW |
10 |
69989914 |
missense |
|
|
|
R7171:Ank3
|
UTSW |
10 |
69992481 |
missense |
|
|
|
R7241:Ank3
|
UTSW |
10 |
69706814 |
start codon destroyed |
probably null |
0.11 |
|
R7386:Ank3
|
UTSW |
10 |
69822249 |
missense |
unknown |
|
|
R7445:Ank3
|
UTSW |
10 |
69992124 |
missense |
|
|
|
R7452:Ank3
|
UTSW |
10 |
69899051 |
missense |
possibly damaging |
0.53 |
|
R7492:Ank3
|
UTSW |
10 |
69882527 |
missense |
unknown |
|
|
R7494:Ank3
|
UTSW |
10 |
69988926 |
missense |
|
|
|
R7512:Ank3
|
UTSW |
10 |
69990861 |
missense |
|
|
|
R7543:Ank3
|
UTSW |
10 |
69951016 |
missense |
possibly damaging |
0.96 |
|
R7577:Ank3
|
UTSW |
10 |
69992572 |
missense |
|
|
|
R7610:Ank3
|
UTSW |
10 |
69986422 |
missense |
|
|
|
R7673:Ank3
|
UTSW |
10 |
69990501 |
missense |
|
|
|
R7682:Ank3
|
UTSW |
10 |
69988235 |
missense |
possibly damaging |
0.53 |
|
R7814:Ank3
|
UTSW |
10 |
69986904 |
missense |
|
|
|
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 |
|
R8109:Ank3
|
UTSW |
10 |
69990318 |
missense |
|
|
|
R8175:Ank3
|
UTSW |
10 |
69893509 |
missense |
unknown |
|
|
R8210:Ank3
|
UTSW |
10 |
69976095 |
missense |
possibly damaging |
0.72 |
|
R8211:Ank3
|
UTSW |
10 |
69867398 |
missense |
unknown |
|
|
R8299:Ank3
|
UTSW |
10 |
69976151 |
missense |
probably damaging |
0.98 |
|
R8302:Ank3
|
UTSW |
10 |
70004980 |
missense |
possibly damaging |
0.73 |
|
R8516:Ank3
|
UTSW |
10 |
69927729 |
nonsense |
probably null |
|
|
R8543:Ank3
|
UTSW |
10 |
70002436 |
missense |
probably damaging |
1.00 |
|
R8549:Ank3
|
UTSW |
10 |
69982182 |
missense |
possibly damaging |
0.74 |
|
Z1176:Ank3
|
UTSW |
10 |
69932474 |
missense |
possibly damaging |
0.96 |
|
Z1176:Ank3
|
UTSW |
10 |
69951010 |
missense |
possibly damaging |
0.85 |
|
Z1176:Ank3
|
UTSW |
10 |
69991215 |
missense |
|
|
|
|---|
| Predicted Primers |
|
|---|
| Posted On | 2014-01-15 |
|---|
