Incidental Mutation 'R4921:Ank3'
| ID |
378609 |
| 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 |
042523-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.829)
|
| Stock # |
R4921 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
69234608-69863266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 69837939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 240
(P240L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138531
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047061]
[ENSMUST00000054167]
[ENSMUST00000092431]
[ENSMUST00000092432]
[ENSMUST00000092433]
[ENSMUST00000092434]
[ENSMUST00000181974]
[ENSMUST00000182207]
[ENSMUST00000182884]
[ENSMUST00000182692]
[ENSMUST00000182972]
[ENSMUST00000182029]
[ENSMUST00000182992]
[ENSMUST00000182439]
[ENSMUST00000182155]
[ENSMUST00000182795]
[ENSMUST00000182269]
[ENSMUST00000182437]
[ENSMUST00000183261]
[ENSMUST00000183148]
[ENSMUST00000183074]
[ENSMUST00000218680]
[ENSMUST00000183169]
[ENSMUST00000183023]
[ENSMUST00000185582]
|
| AlphaFold |
G5E8K5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047061
|
| SMART Domains |
Protein: ENSMUSP00000045834
Gene: ENSMUSG00000069601
| Domain | Start | End | E-Value | Type |
|---|
|
ZU5
|
56 |
160 |
2.27e-58 |
SMART |
|
DEATH
|
541 |
635 |
5.8e-33 |
SMART |
|
low complexity region
|
676 |
696 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054167
AA Change: P1610L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000061698
Gene: ENSMUSG00000069601
AA Change: P1610L
| 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: P1628L
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000090087
Gene: ENSMUSG00000069601
AA Change: P1628L
| 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: P1631L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000090088
Gene: ENSMUSG00000069601
AA Change: P1631L
| 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 damaging
Transcript: ENSMUST00000092433
AA Change: P782L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090089
Gene: ENSMUSG00000069601
AA Change: P782L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
56 |
N/A |
INTRINSIC |
|
ZU5
|
116 |
220 |
2.27e-58 |
SMART |
|
DEATH
|
601 |
695 |
5.8e-33 |
SMART |
|
low complexity region
|
932 |
952 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092434
AA Change: P1649L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090090
Gene: ENSMUSG00000069601
AA Change: P1649L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
56 |
85 |
6.5e-8 |
SMART |
|
ANK
|
89 |
118 |
1.1e-8 |
SMART |
|
ANK
|
122 |
151 |
7.1e-9 |
SMART |
|
ANK
|
155 |
183 |
4.2e-2 |
SMART |
|
ANK
|
184 |
213 |
1.7e-1 |
SMART |
|
ANK
|
217 |
246 |
8.4e-7 |
SMART |
|
ANK
|
250 |
279 |
3.8e-9 |
SMART |
|
ANK
|
283 |
312 |
2.1e-6 |
SMART |
|
ANK
|
316 |
345 |
5.3e-7 |
SMART |
|
ANK
|
349 |
378 |
9.9e-8 |
SMART |
|
ANK
|
382 |
411 |
2.5e-9 |
SMART |
|
ANK
|
415 |
444 |
1.3e-6 |
SMART |
|
ANK
|
448 |
477 |
6e-8 |
SMART |
|
ANK
|
481 |
510 |
7.4e-7 |
SMART |
|
ANK
|
514 |
543 |
1.9e-9 |
SMART |
|
ANK
|
547 |
576 |
2.2e-8 |
SMART |
|
ANK
|
580 |
609 |
3e-6 |
SMART |
|
ANK
|
613 |
642 |
5.4e-8 |
SMART |
|
ANK
|
646 |
675 |
3.3e-6 |
SMART |
|
ANK
|
679 |
708 |
4.3e-6 |
SMART |
|
ANK
|
712 |
741 |
3.9e-8 |
SMART |
|
ANK
|
745 |
774 |
9.1e-8 |
SMART |
|
low complexity region
|
802 |
813 |
N/A |
INTRINSIC |
|
low complexity region
|
906 |
923 |
N/A |
INTRINSIC |
|
ZU5
|
983 |
1087 |
1.1e-60 |
SMART |
|
DEATH
|
1468 |
1562 |
3.8e-35 |
SMART |
|
low complexity region
|
1799 |
1819 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181974
|
| SMART Domains |
Protein: ENSMUSP00000138285
Gene: ENSMUSG00000069601
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
56 |
N/A |
INTRINSIC |
|
ZU5
|
116 |
220 |
2.27e-58 |
SMART |
|
DEATH
|
601 |
695 |
5.8e-33 |
SMART |
|
low complexity region
|
736 |
756 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182207
AA Change: P240L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138531
Gene: ENSMUSG00000069601
AA Change: P240L
| Domain | Start | End | E-Value | Type |
|---|
|
DEATH
|
59 |
153 |
5.8e-33 |
SMART |
|
low complexity region
|
297 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182884
AA Change: P1649L
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138326
Gene: ENSMUSG00000069601
AA Change: P1649L
| 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: ENSMUST00000182692
AA Change: P782L
PolyPhen 2
Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138623
Gene: ENSMUSG00000069601
AA Change: P782L
| 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: ENSMUST00000182972
AA Change: P869L
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000138481
Gene: ENSMUSG00000069601
AA Change: P869L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
4 |
33 |
1.43e-5 |
SMART |
|
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
143 |
N/A |
INTRINSIC |
|
ZU5
|
203 |
307 |
2.27e-58 |
SMART |
|
DEATH
|
688 |
782 |
5.8e-33 |
SMART |
|
low complexity region
|
1019 |
1039 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182029
AA Change: P782L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138337
Gene: ENSMUSG00000069601
AA Change: P782L
| 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 |
noncoding transcript
Transcript: ENSMUST00000183001
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182606
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182665
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182992
|
| SMART Domains |
Protein: ENSMUSP00000138686
Gene: ENSMUSG00000069601
| 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: 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 |
probably benign
Transcript: ENSMUST00000182155
|
| SMART Domains |
Protein: ENSMUSP00000138347
Gene: ENSMUSG00000069601
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
56 |
85 |
1.01e-5 |
SMART |
|
ANK
|
89 |
118 |
1.66e-6 |
SMART |
|
ANK
|
122 |
151 |
1.1e-6 |
SMART |
|
ANK
|
155 |
183 |
6.51e0 |
SMART |
|
ANK
|
184 |
213 |
2.6e1 |
SMART |
|
ANK
|
217 |
246 |
1.31e-4 |
SMART |
|
ANK
|
250 |
279 |
5.88e-7 |
SMART |
|
ANK
|
283 |
312 |
3.23e-4 |
SMART |
|
ANK
|
316 |
345 |
8.07e-5 |
SMART |
|
ANK
|
349 |
378 |
1.53e-5 |
SMART |
|
ANK
|
382 |
411 |
3.88e-7 |
SMART |
|
ANK
|
415 |
444 |
1.99e-4 |
SMART |
|
ANK
|
448 |
477 |
9.41e-6 |
SMART |
|
ANK
|
481 |
510 |
1.14e-4 |
SMART |
|
ANK
|
514 |
543 |
2.94e-7 |
SMART |
|
ANK
|
547 |
576 |
3.33e-6 |
SMART |
|
ANK
|
580 |
609 |
4.56e-4 |
SMART |
|
ANK
|
613 |
642 |
8.19e-6 |
SMART |
|
ANK
|
646 |
675 |
5.24e-4 |
SMART |
|
ANK
|
679 |
708 |
6.46e-4 |
SMART |
|
ANK
|
712 |
741 |
6.21e-6 |
SMART |
|
ANK
|
745 |
774 |
1.43e-5 |
SMART |
|
low complexity region
|
802 |
813 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
884 |
N/A |
INTRINSIC |
|
ZU5
|
944 |
1048 |
2.27e-58 |
SMART |
|
DEATH
|
1429 |
1523 |
5.8e-33 |
SMART |
|
low complexity region
|
1564 |
1584 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182795
|
| SMART Domains |
Protein: ENSMUSP00000138413
Gene: ENSMUSG00000069601
| Domain | Start | End | E-Value | Type |
|---|
|
ZU5
|
111 |
215 |
2.27e-58 |
SMART |
|
DEATH
|
584 |
678 |
7.66e-33 |
SMART |
|
low complexity region
|
719 |
739 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182269
|
| SMART Domains |
Protein: ENSMUSP00000138123
Gene: ENSMUSG00000069601
| Domain | Start | End | E-Value | Type |
|---|
|
ZU5
|
115 |
219 |
2.27e-58 |
SMART |
|
DEATH
|
588 |
682 |
7.66e-33 |
SMART |
|
low complexity region
|
723 |
743 |
N/A |
INTRINSIC |
|
low complexity region
|
886 |
895 |
N/A |
INTRINSIC |
|
low complexity region
|
897 |
909 |
N/A |
INTRINSIC |
|
low complexity region
|
935 |
947 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182437
|
| SMART Domains |
Protein: ENSMUSP00000138586
Gene: ENSMUSG00000069601
| Domain | Start | End | E-Value | Type |
|---|
|
ZU5
|
115 |
219 |
2.27e-58 |
SMART |
|
DEATH
|
588 |
682 |
7.66e-33 |
SMART |
|
low complexity region
|
723 |
743 |
N/A |
INTRINSIC |
|
low complexity region
|
869 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
880 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
918 |
930 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183261
AA Change: P769L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000138095
Gene: ENSMUSG00000069601
AA Change: P769L
| 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: ENSMUST00000183148
AA Change: P1597L
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000138770
Gene: ENSMUSG00000069601
AA Change: P1597L
| 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: ENSMUST00000183074
AA Change: P769L
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000138671
Gene: ENSMUSG00000069601
AA Change: P769L
| 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: ENSMUST00000218680
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183169
|
| SMART Domains |
Protein: ENSMUSP00000138348
Gene: ENSMUSG00000069601
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
56 |
85 |
1.01e-5 |
SMART |
|
ANK
|
89 |
118 |
1.66e-6 |
SMART |
|
ANK
|
122 |
151 |
1.1e-6 |
SMART |
|
ANK
|
155 |
183 |
6.51e0 |
SMART |
|
ANK
|
184 |
213 |
2.6e1 |
SMART |
|
ANK
|
217 |
246 |
1.31e-4 |
SMART |
|
ANK
|
250 |
279 |
5.88e-7 |
SMART |
|
ANK
|
283 |
312 |
3.23e-4 |
SMART |
|
ANK
|
316 |
345 |
8.07e-5 |
SMART |
|
ANK
|
349 |
378 |
1.53e-5 |
SMART |
|
ANK
|
382 |
411 |
3.88e-7 |
SMART |
|
ANK
|
415 |
444 |
1.99e-4 |
SMART |
|
ANK
|
448 |
477 |
9.41e-6 |
SMART |
|
ANK
|
481 |
510 |
1.14e-4 |
SMART |
|
ANK
|
514 |
543 |
2.94e-7 |
SMART |
|
ANK
|
547 |
576 |
3.33e-6 |
SMART |
|
ANK
|
580 |
609 |
4.56e-4 |
SMART |
|
ANK
|
613 |
642 |
8.19e-6 |
SMART |
|
ANK
|
646 |
675 |
5.24e-4 |
SMART |
|
ANK
|
679 |
708 |
6.46e-4 |
SMART |
|
ANK
|
712 |
741 |
6.21e-6 |
SMART |
|
ANK
|
745 |
774 |
1.43e-5 |
SMART |
|
low complexity region
|
802 |
813 |
N/A |
INTRINSIC |
|
ZU5
|
943 |
1047 |
2.27e-58 |
SMART |
|
DEATH
|
1416 |
1510 |
7.66e-33 |
SMART |
|
low complexity region
|
1551 |
1571 |
N/A |
INTRINSIC |
|
low complexity region
|
1715 |
1724 |
N/A |
INTRINSIC |
|
low complexity region
|
1726 |
1738 |
N/A |
INTRINSIC |
|
low complexity region
|
1764 |
1776 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183023
|
| SMART Domains |
Protein: ENSMUSP00000138450
Gene: ENSMUSG00000069601
| Domain | Start | End | E-Value | Type |
|---|
|
DEATH
|
260 |
354 |
7.66e-33 |
SMART |
|
low complexity region
|
395 |
415 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186247
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185582
|
| SMART Domains |
Protein: ENSMUSP00000140724
Gene: ENSMUSG00000069601
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
94 |
N/A |
INTRINSIC |
|
Pfam:Death
|
138 |
178 |
7.4e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.3%
|
| 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: 98 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,885,662 (GRCm39) |
N65K |
probably benign |
Het |
| Abcc9 |
T |
C |
6: 142,536,162 (GRCm39) |
Y1524C |
probably benign |
Het |
| Acap1 |
A |
G |
11: 69,778,019 (GRCm39) |
I102T |
probably damaging |
Het |
| Acvr2a |
T |
C |
2: 48,783,553 (GRCm39) |
V284A |
possibly damaging |
Het |
| Adam3 |
T |
C |
8: 25,174,630 (GRCm39) |
M712V |
probably benign |
Het |
| Adck1 |
T |
C |
12: 88,407,908 (GRCm39) |
V213A |
probably benign |
Het |
| Adgrl3 |
G |
T |
5: 81,659,957 (GRCm39) |
W242L |
probably damaging |
Het |
| Alk |
T |
C |
17: 72,211,310 (GRCm39) |
T857A |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,605,528 (GRCm39) |
T2393A |
probably benign |
Het |
| Ankrd35 |
C |
A |
3: 96,592,140 (GRCm39) |
L809M |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,957,094 (GRCm39) |
L3690Q |
probably damaging |
Het |
| Bmp3 |
C |
A |
5: 99,019,920 (GRCm39) |
F114L |
probably damaging |
Het |
| Cage1 |
G |
A |
13: 38,203,184 (GRCm39) |
H627Y |
probably benign |
Het |
| Cars1 |
T |
C |
7: 143,123,212 (GRCm39) |
D468G |
probably damaging |
Het |
| Ccdc148 |
T |
C |
2: 58,719,814 (GRCm39) |
E487G |
probably damaging |
Het |
| Ccdc80 |
A |
T |
16: 44,938,530 (GRCm39) |
I746F |
probably damaging |
Het |
| Ccl25 |
A |
G |
8: 4,403,913 (GRCm39) |
Q119R |
possibly damaging |
Het |
| Cdh24 |
C |
T |
14: 54,870,672 (GRCm39) |
D178N |
probably damaging |
Het |
| Cdk12 |
A |
T |
11: 98,113,513 (GRCm39) |
T766S |
unknown |
Het |
| Chst15 |
T |
A |
7: 131,849,613 (GRCm39) |
T443S |
probably benign |
Het |
| Cnbp |
T |
C |
6: 87,822,128 (GRCm39) |
D125G |
possibly damaging |
Het |
| Cntn2 |
A |
T |
1: 132,443,770 (GRCm39) |
V1003E |
possibly damaging |
Het |
| Crct1 |
A |
G |
3: 92,922,132 (GRCm39) |
|
probably benign |
Het |
| Dand5 |
C |
T |
8: 85,543,113 (GRCm39) |
C121Y |
probably damaging |
Het |
| Dmkn |
A |
T |
7: 30,470,658 (GRCm39) |
D382V |
probably damaging |
Het |
| Dnase2b |
T |
A |
3: 146,299,196 (GRCm39) |
T86S |
probably damaging |
Het |
| Dusp8 |
GCCACCACCACCACCACCACCACC |
GCCACCACCACCACCACCACC |
7: 141,635,891 (GRCm39) |
|
probably benign |
Het |
| Eef1akmt1 |
C |
T |
14: 57,788,089 (GRCm39) |
V90M |
probably damaging |
Het |
| Egfl7 |
G |
T |
2: 26,480,992 (GRCm39) |
W168L |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,813,676 (GRCm39) |
C2908R |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,223,676 (GRCm39) |
K1076E |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,887,452 (GRCm39) |
N747D |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,123,915 (GRCm39) |
V191A |
probably benign |
Het |
| Fbxo17 |
A |
G |
7: 28,432,214 (GRCm39) |
D97G |
probably benign |
Het |
| Fer1l6 |
G |
T |
15: 58,472,160 (GRCm39) |
|
probably null |
Het |
| Flt4 |
T |
C |
11: 49,517,970 (GRCm39) |
W337R |
probably damaging |
Het |
| Fpr-rs7 |
T |
C |
17: 20,334,082 (GRCm39) |
H136R |
possibly damaging |
Het |
| Frem3 |
T |
A |
8: 81,339,765 (GRCm39) |
I686N |
possibly damaging |
Het |
| Galnt9 |
A |
G |
5: 110,725,315 (GRCm39) |
K84R |
probably damaging |
Het |
| Gfm2 |
T |
A |
13: 97,312,184 (GRCm39) |
M760K |
probably damaging |
Het |
| Glis3 |
T |
C |
19: 28,643,504 (GRCm39) |
T13A |
probably damaging |
Het |
| H2-K2 |
A |
G |
17: 34,216,050 (GRCm39) |
V323A |
possibly damaging |
Het |
| Hbb-bs |
G |
A |
7: 103,475,927 (GRCm39) |
A130V |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,879,438 (GRCm39) |
H4685Q |
probably benign |
Het |
| Ighv5-9-1 |
C |
T |
12: 113,699,914 (GRCm39) |
R56H |
possibly damaging |
Het |
| Itgb4 |
A |
G |
11: 115,897,431 (GRCm39) |
N1548S |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,316,979 (GRCm39) |
Y745H |
probably damaging |
Het |
| Kank3 |
G |
T |
17: 34,036,174 (GRCm39) |
G14V |
probably damaging |
Het |
| Kif24 |
G |
T |
4: 41,394,329 (GRCm39) |
S982Y |
probably damaging |
Het |
| Kifc5b |
C |
T |
17: 27,139,997 (GRCm39) |
R53W |
probably damaging |
Het |
| Krt39 |
A |
G |
11: 99,405,575 (GRCm39) |
S442P |
possibly damaging |
Het |
| Lcat |
G |
A |
8: 106,669,074 (GRCm39) |
P67L |
possibly damaging |
Het |
| Maml2 |
T |
C |
9: 13,532,471 (GRCm39) |
S562P |
probably damaging |
Het |
| Map3k8 |
G |
A |
18: 4,349,124 (GRCm39) |
R65W |
possibly damaging |
Het |
| Mbd3 |
G |
T |
10: 80,231,410 (GRCm39) |
R12S |
probably damaging |
Het |
| Msr1 |
T |
C |
8: 40,077,292 (GRCm39) |
E106G |
possibly damaging |
Het |
| Myh4 |
T |
A |
11: 67,144,854 (GRCm39) |
L1256Q |
probably damaging |
Het |
| Mypn |
G |
A |
10: 62,983,715 (GRCm39) |
T511M |
possibly damaging |
Het |
| Nub1 |
A |
T |
5: 24,906,467 (GRCm39) |
N331I |
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,606,416 (GRCm39) |
V440A |
possibly damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,367,993 (GRCm39) |
F174L |
probably benign |
Het |
| Or10d5 |
A |
C |
9: 39,861,521 (GRCm39) |
V182G |
probably damaging |
Het |
| Or52ab2 |
A |
T |
7: 102,969,750 (GRCm39) |
N44I |
probably damaging |
Het |
| Or9q2 |
T |
C |
19: 13,772,829 (GRCm39) |
I49V |
probably benign |
Het |
| Parp2 |
C |
A |
14: 51,056,725 (GRCm39) |
L310I |
probably damaging |
Het |
| Pcdh20 |
A |
G |
14: 88,707,162 (GRCm39) |
V46A |
probably benign |
Het |
| Pcdhgb6 |
A |
G |
18: 37,876,525 (GRCm39) |
D411G |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,781,624 (GRCm39) |
E807G |
probably benign |
Het |
| Pkd1l2 |
A |
T |
8: 117,799,288 (GRCm39) |
N267K |
probably damaging |
Het |
| Pramel24 |
A |
T |
4: 143,454,896 (GRCm39) |
K398M |
possibly damaging |
Het |
| Rell1 |
C |
A |
5: 64,093,376 (GRCm39) |
M126I |
probably damaging |
Het |
| Robo4 |
G |
A |
9: 37,313,856 (GRCm39) |
E36K |
probably benign |
Het |
| Rpgrip1l |
T |
C |
8: 91,987,637 (GRCm39) |
S807G |
probably benign |
Het |
| Rpl10a |
T |
C |
17: 28,549,826 (GRCm39) |
V169A |
probably benign |
Het |
| Rubcn |
C |
T |
16: 32,667,664 (GRCm39) |
V166I |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,552,850 (GRCm39) |
E113G |
possibly damaging |
Het |
| Sars2 |
T |
C |
7: 28,451,863 (GRCm39) |
S423P |
possibly damaging |
Het |
| Scaper |
A |
G |
9: 55,799,519 (GRCm39) |
I182T |
probably benign |
Het |
| Selp |
A |
G |
1: 163,968,966 (GRCm39) |
D522G |
possibly damaging |
Het |
| Sema4b |
T |
A |
7: 79,848,504 (GRCm39) |
I35N |
possibly damaging |
Het |
| Sgce |
A |
T |
6: 4,694,153 (GRCm39) |
F268I |
probably damaging |
Het |
| Slc14a2 |
G |
T |
18: 78,235,403 (GRCm39) |
A258E |
probably damaging |
Het |
| Slc17a9 |
T |
C |
2: 180,377,742 (GRCm39) |
Y213H |
probably benign |
Het |
| Slc22a7 |
T |
G |
17: 46,747,859 (GRCm39) |
I233L |
probably benign |
Het |
| Slc35f1 |
A |
G |
10: 52,938,698 (GRCm39) |
Q210R |
probably damaging |
Het |
| Slc6a21 |
A |
G |
7: 44,937,734 (GRCm39) |
E350G |
possibly damaging |
Het |
| Spata21 |
A |
T |
4: 140,839,402 (GRCm39) |
D639V |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,108,631 (GRCm39) |
D1519G |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,660,649 (GRCm39) |
T56A |
probably benign |
Het |
| Tigit |
A |
T |
16: 43,482,380 (GRCm39) |
I118N |
probably damaging |
Het |
| Tlr11 |
A |
T |
14: 50,600,342 (GRCm39) |
Q776L |
possibly damaging |
Het |
| Tspan12 |
A |
C |
6: 21,835,448 (GRCm39) |
I9S |
possibly damaging |
Het |
| Unc5c |
T |
A |
3: 141,494,727 (GRCm39) |
Y347N |
probably damaging |
Het |
| Unk |
A |
G |
11: 115,945,771 (GRCm39) |
T481A |
probably benign |
Het |
| Vmn1r192 |
A |
C |
13: 22,371,650 (GRCm39) |
V190G |
probably damaging |
Het |
| Vnn3 |
A |
T |
10: 23,740,473 (GRCm39) |
M259L |
probably benign |
Het |
| Zan |
T |
C |
5: 137,406,632 (GRCm39) |
|
probably benign |
Het |
| Zdhhc6 |
T |
C |
19: 55,301,642 (GRCm39) |
H113R |
probably damaging |
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 |
|
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 |
|
|
R9336:Ank3
|
UTSW |
10 |
69,809,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TTCAAGTGGAGCTGGAGACC -3'
(R):5'- TCAGAGCTCATGCCTACTTTTCTAG -3'
Sequencing Primer
(F):5'- AGCTGGAGACCCCCATG -3'
(R):5'- CTAGTCTGCGGTCTCAGTGGC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation