Incidental Mutation 'R5031:Ank1'
| ID |
391696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ank1
|
| Ensembl Gene |
ENSMUSG00000031543 |
| Gene Name |
ankyrin 1, erythroid |
| Synonyms |
Ank-1, pale |
| MMRRC Submission |
042622-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.427)
|
| Stock # |
R5031 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
22974844-23150497 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 23099680 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 599
(P599L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084038]
[ENSMUST00000110688]
[ENSMUST00000117270]
[ENSMUST00000117296]
[ENSMUST00000117662]
[ENSMUST00000118733]
[ENSMUST00000121802]
[ENSMUST00000123418]
[ENSMUST00000141784]
[ENSMUST00000152511]
[ENSMUST00000173248]
[ENSMUST00000173573]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084038
AA Change: P599L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081051
Gene: ENSMUSG00000031543
AA Change: P599L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
15 |
44 |
2.5e3 |
SMART |
|
ANK
|
48 |
77 |
3.26e0 |
SMART |
|
ANK
|
81 |
110 |
3.15e-7 |
SMART |
|
ANK
|
114 |
143 |
9.05e-8 |
SMART |
|
ANK
|
147 |
175 |
4.67e-1 |
SMART |
|
ANK
|
176 |
205 |
1.42e0 |
SMART |
|
ANK
|
209 |
238 |
4.39e-6 |
SMART |
|
ANK
|
242 |
271 |
1.33e-5 |
SMART |
|
ANK
|
275 |
304 |
7.53e-5 |
SMART |
|
ANK
|
308 |
337 |
2.35e-6 |
SMART |
|
ANK
|
341 |
370 |
6.65e-6 |
SMART |
|
ANK
|
374 |
403 |
5.2e-8 |
SMART |
|
ANK
|
407 |
436 |
8.78e-6 |
SMART |
|
ANK
|
440 |
469 |
7.53e-5 |
SMART |
|
ANK
|
473 |
502 |
5.49e-7 |
SMART |
|
ANK
|
506 |
535 |
2.58e-3 |
SMART |
|
ANK
|
539 |
568 |
1.88e-5 |
SMART |
|
ANK
|
572 |
601 |
1.02e-6 |
SMART |
|
ANK
|
605 |
634 |
7.64e-6 |
SMART |
|
ANK
|
638 |
669 |
3.23e-4 |
SMART |
|
ANK
|
671 |
700 |
1.38e-3 |
SMART |
|
ANK
|
704 |
733 |
1.58e-7 |
SMART |
|
ANK
|
737 |
766 |
2.85e-5 |
SMART |
|
ZU5
|
923 |
1027 |
1.9e-60 |
SMART |
|
low complexity region
|
1050 |
1059 |
N/A |
INTRINSIC |
|
low complexity region
|
1387 |
1397 |
N/A |
INTRINSIC |
|
DEATH
|
1405 |
1499 |
3.21e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110688
AA Change: P628L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106316
Gene: ENSMUSG00000031543
AA Change: P628L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
39 |
N/A |
INTRINSIC |
|
ANK
|
44 |
73 |
2.5e3 |
SMART |
|
ANK
|
77 |
106 |
3.26e0 |
SMART |
|
ANK
|
110 |
139 |
3.15e-7 |
SMART |
|
ANK
|
143 |
172 |
9.05e-8 |
SMART |
|
ANK
|
176 |
204 |
4.67e-1 |
SMART |
|
ANK
|
205 |
234 |
1.42e0 |
SMART |
|
ANK
|
238 |
267 |
4.39e-6 |
SMART |
|
ANK
|
271 |
300 |
1.33e-5 |
SMART |
|
ANK
|
304 |
333 |
7.53e-5 |
SMART |
|
ANK
|
337 |
366 |
2.35e-6 |
SMART |
|
ANK
|
370 |
399 |
6.65e-6 |
SMART |
|
ANK
|
403 |
432 |
5.2e-8 |
SMART |
|
ANK
|
436 |
465 |
8.78e-6 |
SMART |
|
ANK
|
469 |
498 |
7.53e-5 |
SMART |
|
ANK
|
502 |
531 |
5.49e-7 |
SMART |
|
ANK
|
535 |
564 |
2.58e-3 |
SMART |
|
ANK
|
568 |
597 |
1.88e-5 |
SMART |
|
ANK
|
601 |
630 |
1.02e-6 |
SMART |
|
ANK
|
634 |
663 |
7.64e-6 |
SMART |
|
ANK
|
667 |
698 |
3.23e-4 |
SMART |
|
ANK
|
700 |
729 |
1.38e-3 |
SMART |
|
ANK
|
733 |
762 |
1.58e-7 |
SMART |
|
ANK
|
766 |
795 |
2.85e-5 |
SMART |
|
ZU5
|
944 |
1048 |
1.9e-60 |
SMART |
|
low complexity region
|
1071 |
1080 |
N/A |
INTRINSIC |
|
low complexity region
|
1408 |
1418 |
N/A |
INTRINSIC |
|
DEATH
|
1426 |
1520 |
3.21e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117270
AA Change: P628L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113495
Gene: ENSMUSG00000031543
AA Change: P628L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
39 |
N/A |
INTRINSIC |
|
ANK
|
44 |
73 |
2.5e3 |
SMART |
|
ANK
|
77 |
106 |
3.26e0 |
SMART |
|
ANK
|
110 |
139 |
3.15e-7 |
SMART |
|
ANK
|
143 |
172 |
9.05e-8 |
SMART |
|
ANK
|
176 |
204 |
4.67e-1 |
SMART |
|
ANK
|
205 |
234 |
1.42e0 |
SMART |
|
ANK
|
238 |
267 |
4.39e-6 |
SMART |
|
ANK
|
271 |
300 |
1.33e-5 |
SMART |
|
ANK
|
304 |
333 |
7.53e-5 |
SMART |
|
ANK
|
337 |
366 |
2.35e-6 |
SMART |
|
ANK
|
370 |
399 |
6.65e-6 |
SMART |
|
ANK
|
403 |
432 |
5.2e-8 |
SMART |
|
ANK
|
436 |
465 |
8.78e-6 |
SMART |
|
ANK
|
469 |
498 |
7.53e-5 |
SMART |
|
ANK
|
502 |
531 |
5.49e-7 |
SMART |
|
ANK
|
535 |
564 |
2.58e-3 |
SMART |
|
ANK
|
568 |
597 |
1.88e-5 |
SMART |
|
ANK
|
601 |
630 |
1.02e-6 |
SMART |
|
ANK
|
634 |
663 |
7.64e-6 |
SMART |
|
ANK
|
667 |
698 |
3.23e-4 |
SMART |
|
ANK
|
700 |
729 |
1.38e-3 |
SMART |
|
ANK
|
733 |
762 |
1.58e-7 |
SMART |
|
ANK
|
766 |
795 |
2.85e-5 |
SMART |
|
ZU5
|
952 |
1056 |
1.9e-60 |
SMART |
|
low complexity region
|
1079 |
1088 |
N/A |
INTRINSIC |
|
low complexity region
|
1416 |
1426 |
N/A |
INTRINSIC |
|
DEATH
|
1434 |
1528 |
3.21e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117296
AA Change: P591L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113656
Gene: ENSMUSG00000031543
AA Change: P591L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
7 |
36 |
2.5e3 |
SMART |
|
ANK
|
40 |
69 |
3.26e0 |
SMART |
|
ANK
|
73 |
102 |
3.15e-7 |
SMART |
|
ANK
|
106 |
135 |
9.05e-8 |
SMART |
|
ANK
|
139 |
167 |
4.67e-1 |
SMART |
|
ANK
|
168 |
197 |
1.42e0 |
SMART |
|
ANK
|
201 |
230 |
4.39e-6 |
SMART |
|
ANK
|
234 |
263 |
1.33e-5 |
SMART |
|
ANK
|
267 |
296 |
7.53e-5 |
SMART |
|
ANK
|
300 |
329 |
2.35e-6 |
SMART |
|
ANK
|
333 |
362 |
6.65e-6 |
SMART |
|
ANK
|
366 |
395 |
5.2e-8 |
SMART |
|
ANK
|
399 |
428 |
8.78e-6 |
SMART |
|
ANK
|
432 |
461 |
7.53e-5 |
SMART |
|
ANK
|
465 |
494 |
5.49e-7 |
SMART |
|
ANK
|
498 |
527 |
2.58e-3 |
SMART |
|
ANK
|
531 |
560 |
1.88e-5 |
SMART |
|
ANK
|
564 |
593 |
1.02e-6 |
SMART |
|
ANK
|
597 |
626 |
7.64e-6 |
SMART |
|
ANK
|
630 |
661 |
3.23e-4 |
SMART |
|
ANK
|
663 |
692 |
1.38e-3 |
SMART |
|
ANK
|
696 |
725 |
1.58e-7 |
SMART |
|
ANK
|
729 |
758 |
2.85e-5 |
SMART |
|
ZU5
|
907 |
1011 |
1.9e-60 |
SMART |
|
low complexity region
|
1034 |
1043 |
N/A |
INTRINSIC |
|
low complexity region
|
1371 |
1381 |
N/A |
INTRINSIC |
|
DEATH
|
1389 |
1483 |
3.21e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117662
AA Change: P591L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113531
Gene: ENSMUSG00000031543
AA Change: P591L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
7 |
36 |
2.5e3 |
SMART |
|
ANK
|
40 |
69 |
3.26e0 |
SMART |
|
ANK
|
73 |
102 |
3.15e-7 |
SMART |
|
ANK
|
106 |
135 |
9.05e-8 |
SMART |
|
ANK
|
139 |
167 |
4.67e-1 |
SMART |
|
ANK
|
168 |
197 |
1.42e0 |
SMART |
|
ANK
|
201 |
230 |
4.39e-6 |
SMART |
|
ANK
|
234 |
263 |
1.33e-5 |
SMART |
|
ANK
|
267 |
296 |
7.53e-5 |
SMART |
|
ANK
|
300 |
329 |
2.35e-6 |
SMART |
|
ANK
|
333 |
362 |
6.65e-6 |
SMART |
|
ANK
|
366 |
395 |
5.2e-8 |
SMART |
|
ANK
|
399 |
428 |
8.78e-6 |
SMART |
|
ANK
|
432 |
461 |
7.53e-5 |
SMART |
|
ANK
|
465 |
494 |
5.49e-7 |
SMART |
|
ANK
|
498 |
527 |
2.58e-3 |
SMART |
|
ANK
|
531 |
560 |
1.88e-5 |
SMART |
|
ANK
|
564 |
593 |
1.02e-6 |
SMART |
|
ANK
|
597 |
626 |
7.64e-6 |
SMART |
|
ANK
|
630 |
661 |
3.23e-4 |
SMART |
|
ANK
|
663 |
692 |
1.38e-3 |
SMART |
|
ANK
|
696 |
725 |
1.58e-7 |
SMART |
|
ANK
|
729 |
758 |
2.85e-5 |
SMART |
|
ZU5
|
907 |
1011 |
1.9e-60 |
SMART |
|
low complexity region
|
1034 |
1043 |
N/A |
INTRINSIC |
|
low complexity region
|
1371 |
1381 |
N/A |
INTRINSIC |
|
DEATH
|
1389 |
1483 |
3.21e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118733
AA Change: P599L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112850
Gene: ENSMUSG00000031543
AA Change: P599L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
15 |
44 |
2.5e3 |
SMART |
|
ANK
|
48 |
77 |
3.26e0 |
SMART |
|
ANK
|
81 |
110 |
3.15e-7 |
SMART |
|
ANK
|
114 |
143 |
9.05e-8 |
SMART |
|
ANK
|
147 |
175 |
4.67e-1 |
SMART |
|
ANK
|
176 |
205 |
1.42e0 |
SMART |
|
ANK
|
209 |
238 |
4.39e-6 |
SMART |
|
ANK
|
242 |
271 |
1.33e-5 |
SMART |
|
ANK
|
275 |
304 |
7.53e-5 |
SMART |
|
ANK
|
308 |
337 |
2.35e-6 |
SMART |
|
ANK
|
341 |
370 |
6.65e-6 |
SMART |
|
ANK
|
374 |
403 |
5.2e-8 |
SMART |
|
ANK
|
407 |
436 |
8.78e-6 |
SMART |
|
ANK
|
440 |
469 |
7.53e-5 |
SMART |
|
ANK
|
473 |
502 |
5.49e-7 |
SMART |
|
ANK
|
506 |
535 |
2.58e-3 |
SMART |
|
ANK
|
539 |
568 |
1.88e-5 |
SMART |
|
ANK
|
572 |
601 |
1.02e-6 |
SMART |
|
ANK
|
605 |
634 |
7.64e-6 |
SMART |
|
ANK
|
638 |
669 |
3.23e-4 |
SMART |
|
ANK
|
671 |
700 |
1.38e-3 |
SMART |
|
ANK
|
704 |
733 |
1.58e-7 |
SMART |
|
ANK
|
737 |
766 |
2.85e-5 |
SMART |
|
ZU5
|
923 |
1027 |
1.9e-60 |
SMART |
|
low complexity region
|
1050 |
1059 |
N/A |
INTRINSIC |
|
low complexity region
|
1387 |
1397 |
N/A |
INTRINSIC |
|
DEATH
|
1405 |
1499 |
3.21e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121802
AA Change: P628L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113571
Gene: ENSMUSG00000031543
AA Change: P628L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
39 |
N/A |
INTRINSIC |
|
ANK
|
44 |
73 |
2.5e3 |
SMART |
|
ANK
|
77 |
106 |
3.26e0 |
SMART |
|
ANK
|
110 |
139 |
3.15e-7 |
SMART |
|
ANK
|
143 |
172 |
9.05e-8 |
SMART |
|
ANK
|
176 |
204 |
4.67e-1 |
SMART |
|
ANK
|
205 |
234 |
1.42e0 |
SMART |
|
ANK
|
238 |
267 |
4.39e-6 |
SMART |
|
ANK
|
271 |
300 |
1.33e-5 |
SMART |
|
ANK
|
304 |
333 |
7.53e-5 |
SMART |
|
ANK
|
337 |
366 |
2.35e-6 |
SMART |
|
ANK
|
370 |
399 |
6.65e-6 |
SMART |
|
ANK
|
403 |
432 |
5.2e-8 |
SMART |
|
ANK
|
436 |
465 |
8.78e-6 |
SMART |
|
ANK
|
469 |
498 |
7.53e-5 |
SMART |
|
ANK
|
502 |
531 |
5.49e-7 |
SMART |
|
ANK
|
535 |
564 |
2.58e-3 |
SMART |
|
ANK
|
568 |
597 |
1.88e-5 |
SMART |
|
ANK
|
601 |
630 |
1.02e-6 |
SMART |
|
ANK
|
634 |
663 |
7.64e-6 |
SMART |
|
ANK
|
667 |
698 |
3.23e-4 |
SMART |
|
ANK
|
700 |
729 |
1.38e-3 |
SMART |
|
ANK
|
733 |
762 |
1.58e-7 |
SMART |
|
ANK
|
766 |
795 |
2.85e-5 |
SMART |
|
ZU5
|
952 |
1056 |
1.9e-60 |
SMART |
|
low complexity region
|
1079 |
1088 |
N/A |
INTRINSIC |
|
low complexity region
|
1416 |
1426 |
N/A |
INTRINSIC |
|
DEATH
|
1434 |
1528 |
3.21e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123418
|
| SMART Domains |
Protein: ENSMUSP00000121785
Gene: ENSMUSG00000031543
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
15 |
44 |
2.5e3 |
SMART |
|
ANK
|
48 |
77 |
3.26e0 |
SMART |
|
ANK
|
81 |
110 |
3.15e-7 |
SMART |
|
ANK
|
114 |
143 |
9.05e-8 |
SMART |
|
ANK
|
147 |
175 |
4.67e-1 |
SMART |
|
ANK
|
176 |
205 |
1.42e0 |
SMART |
|
ANK
|
209 |
238 |
4.39e-6 |
SMART |
|
ANK
|
242 |
271 |
1.33e-5 |
SMART |
|
ANK
|
275 |
304 |
7.53e-5 |
SMART |
|
ANK
|
308 |
337 |
2.35e-6 |
SMART |
|
ANK
|
341 |
370 |
6.65e-6 |
SMART |
|
ANK
|
374 |
403 |
5.2e-8 |
SMART |
|
ANK
|
407 |
436 |
8.78e-6 |
SMART |
|
ANK
|
440 |
469 |
7.53e-5 |
SMART |
|
ANK
|
473 |
502 |
5.49e-7 |
SMART |
|
ANK
|
506 |
535 |
2.58e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141784
AA Change: P591L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117966
Gene: ENSMUSG00000031543
AA Change: P591L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
7 |
36 |
2.5e3 |
SMART |
|
ANK
|
40 |
69 |
3.26e0 |
SMART |
|
ANK
|
73 |
102 |
3.15e-7 |
SMART |
|
ANK
|
106 |
135 |
9.05e-8 |
SMART |
|
ANK
|
139 |
167 |
4.67e-1 |
SMART |
|
ANK
|
168 |
197 |
1.42e0 |
SMART |
|
ANK
|
201 |
230 |
4.39e-6 |
SMART |
|
ANK
|
234 |
263 |
1.33e-5 |
SMART |
|
ANK
|
267 |
296 |
7.53e-5 |
SMART |
|
ANK
|
300 |
329 |
2.35e-6 |
SMART |
|
ANK
|
333 |
362 |
6.65e-6 |
SMART |
|
ANK
|
366 |
395 |
5.2e-8 |
SMART |
|
ANK
|
399 |
428 |
8.78e-6 |
SMART |
|
ANK
|
432 |
461 |
7.53e-5 |
SMART |
|
ANK
|
465 |
494 |
5.49e-7 |
SMART |
|
ANK
|
498 |
527 |
2.58e-3 |
SMART |
|
ANK
|
531 |
560 |
1.88e-5 |
SMART |
|
ANK
|
564 |
593 |
1.02e-6 |
SMART |
|
ANK
|
597 |
626 |
7.64e-6 |
SMART |
|
ANK
|
630 |
661 |
3.23e-4 |
SMART |
|
ANK
|
663 |
692 |
1.38e-3 |
SMART |
|
ANK
|
696 |
725 |
1.58e-7 |
SMART |
|
ANK
|
729 |
758 |
2.85e-5 |
SMART |
|
ZU5
|
907 |
1011 |
1.9e-60 |
SMART |
|
low complexity region
|
1034 |
1043 |
N/A |
INTRINSIC |
|
low complexity region
|
1371 |
1381 |
N/A |
INTRINSIC |
|
DEATH
|
1389 |
1483 |
3.21e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152511
AA Change: P192L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116533
Gene: ENSMUSG00000031543
AA Change: P192L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
1 |
29 |
4.82e-3 |
SMART |
|
ANK
|
33 |
62 |
7.53e-5 |
SMART |
|
ANK
|
66 |
95 |
5.49e-7 |
SMART |
|
ANK
|
99 |
128 |
2.58e-3 |
SMART |
|
ANK
|
132 |
161 |
1.88e-5 |
SMART |
|
ANK
|
165 |
194 |
1.02e-6 |
SMART |
|
ANK
|
198 |
227 |
7.64e-6 |
SMART |
|
ANK
|
231 |
262 |
3.23e-4 |
SMART |
|
ANK
|
264 |
293 |
1.38e-3 |
SMART |
|
ANK
|
297 |
326 |
1.58e-7 |
SMART |
|
ANK
|
330 |
359 |
2.85e-5 |
SMART |
|
ZU5
|
508 |
612 |
1.9e-60 |
SMART |
|
low complexity region
|
635 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
972 |
982 |
N/A |
INTRINSIC |
|
DEATH
|
990 |
1090 |
4.31e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173248
AA Change: P599L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133322
Gene: ENSMUSG00000031543
AA Change: P599L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
15 |
44 |
2.5e3 |
SMART |
|
ANK
|
48 |
77 |
3.26e0 |
SMART |
|
ANK
|
81 |
110 |
3.15e-7 |
SMART |
|
ANK
|
114 |
143 |
9.05e-8 |
SMART |
|
ANK
|
147 |
175 |
4.67e-1 |
SMART |
|
ANK
|
176 |
205 |
1.42e0 |
SMART |
|
ANK
|
209 |
238 |
4.39e-6 |
SMART |
|
ANK
|
242 |
271 |
1.33e-5 |
SMART |
|
ANK
|
275 |
304 |
7.53e-5 |
SMART |
|
ANK
|
308 |
337 |
2.35e-6 |
SMART |
|
ANK
|
341 |
370 |
6.65e-6 |
SMART |
|
ANK
|
374 |
403 |
5.2e-8 |
SMART |
|
ANK
|
407 |
436 |
8.78e-6 |
SMART |
|
ANK
|
440 |
469 |
7.53e-5 |
SMART |
|
ANK
|
473 |
502 |
5.49e-7 |
SMART |
|
ANK
|
506 |
535 |
2.58e-3 |
SMART |
|
ANK
|
539 |
568 |
1.88e-5 |
SMART |
|
ANK
|
572 |
601 |
1.02e-6 |
SMART |
|
ANK
|
605 |
634 |
7.64e-6 |
SMART |
|
ANK
|
638 |
669 |
3.23e-4 |
SMART |
|
ANK
|
671 |
700 |
1.38e-3 |
SMART |
|
ANK
|
704 |
733 |
1.58e-7 |
SMART |
|
ANK
|
737 |
766 |
2.85e-5 |
SMART |
|
ZU5
|
923 |
1027 |
1.9e-60 |
SMART |
|
low complexity region
|
1050 |
1059 |
N/A |
INTRINSIC |
|
low complexity region
|
1387 |
1397 |
N/A |
INTRINSIC |
|
DEATH
|
1405 |
1499 |
3.21e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173573
AA Change: P599L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133901
Gene: ENSMUSG00000031543
AA Change: P599L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
15 |
44 |
2.5e3 |
SMART |
|
ANK
|
48 |
77 |
3.26e0 |
SMART |
|
ANK
|
81 |
110 |
3.15e-7 |
SMART |
|
ANK
|
114 |
143 |
9.05e-8 |
SMART |
|
ANK
|
147 |
175 |
4.67e-1 |
SMART |
|
ANK
|
176 |
205 |
1.42e0 |
SMART |
|
ANK
|
209 |
238 |
4.39e-6 |
SMART |
|
ANK
|
242 |
271 |
1.33e-5 |
SMART |
|
ANK
|
275 |
304 |
7.53e-5 |
SMART |
|
ANK
|
308 |
337 |
2.35e-6 |
SMART |
|
ANK
|
341 |
370 |
6.65e-6 |
SMART |
|
ANK
|
374 |
403 |
5.2e-8 |
SMART |
|
ANK
|
407 |
436 |
8.78e-6 |
SMART |
|
ANK
|
440 |
469 |
7.53e-5 |
SMART |
|
ANK
|
473 |
502 |
5.49e-7 |
SMART |
|
ANK
|
506 |
535 |
2.58e-3 |
SMART |
|
ANK
|
539 |
568 |
1.88e-5 |
SMART |
|
ANK
|
572 |
601 |
1.02e-6 |
SMART |
|
ANK
|
605 |
634 |
7.64e-6 |
SMART |
|
ANK
|
638 |
669 |
3.23e-4 |
SMART |
|
ANK
|
671 |
700 |
1.38e-3 |
SMART |
|
ANK
|
704 |
733 |
1.58e-7 |
SMART |
|
ANK
|
737 |
766 |
2.85e-5 |
SMART |
|
ZU5
|
923 |
1027 |
1.9e-60 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197671
|
| Meta Mutation Damage Score |
0.4338 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 89.9%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous mutant animals are anemic, infertile, and have reduced body size. Mutant animals also exhibit jaundice, bone marrow hyperplasia, splenomegaly, hepatomegaly, enlarged lymph nodes, increased white blood cell count, and cardiac hypertrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310035C23Rik |
A |
G |
1: 105,664,514 |
N136S |
probably damaging |
Het |
| Abca13 |
A |
T |
11: 9,297,678 |
N2475I |
probably damaging |
Het |
| Acnat2 |
T |
C |
4: 49,380,631 |
K231R |
probably damaging |
Het |
| Arhgef19 |
A |
G |
4: 141,250,810 |
E580G |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,865,702 |
K346E |
probably damaging |
Het |
| AU021092 |
T |
C |
16: 5,212,604 |
K309E |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,912,807 |
R1607G |
probably benign |
Het |
| Cct8 |
C |
T |
16: 87,487,538 |
V254M |
probably damaging |
Het |
| Cdca2 |
T |
A |
14: 67,713,153 |
I110F |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,659,192 |
C2694S |
probably damaging |
Het |
| Dmkn |
A |
G |
7: 30,764,236 |
I105V |
probably benign |
Het |
| Dock1 |
A |
G |
7: 135,152,246 |
D1584G |
probably benign |
Het |
| Epg5 |
G |
A |
18: 78,028,948 |
V2392I |
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,377,830 |
T518S |
probably benign |
Het |
| Gsap |
G |
A |
5: 21,242,826 |
S294N |
possibly damaging |
Het |
| Hectd2 |
A |
G |
19: 36,599,604 |
N142D |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,588,257 |
C5091R |
probably damaging |
Het |
| Ifitm5 |
G |
A |
7: 140,950,104 |
R36* |
probably null |
Het |
| Ints2 |
G |
A |
11: 86,256,200 |
P40L |
probably damaging |
Het |
| Irs1 |
A |
T |
1: 82,286,967 |
L1176* |
probably null |
Het |
| Klhl29 |
C |
T |
12: 5,091,334 |
R550Q |
probably benign |
Het |
| Kyat1 |
A |
G |
2: 30,188,090 |
M134T |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,700,619 |
N384Y |
possibly damaging |
Het |
| Magel2 |
T |
C |
7: 62,380,104 |
S919P |
unknown |
Het |
| Mettl16 |
A |
T |
11: 74,802,999 |
I279F |
probably benign |
Het |
| Mrgpra1 |
A |
T |
7: 47,335,237 |
Y231* |
probably null |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,232,257 |
|
probably null |
Het |
| Mut |
T |
C |
17: 40,938,827 |
F231S |
possibly damaging |
Het |
| Mvp |
A |
C |
7: 126,993,616 |
Y374* |
probably null |
Het |
| Nabp2 |
G |
A |
10: 128,409,628 |
|
probably benign |
Het |
| Nos1 |
C |
T |
5: 117,879,313 |
P247L |
probably benign |
Het |
| Olfr1015 |
T |
A |
2: 85,785,718 |
L69* |
probably null |
Het |
| Olfr1115 |
C |
A |
2: 87,252,082 |
F48L |
probably benign |
Het |
| Pik3cb |
C |
T |
9: 99,071,408 |
D441N |
probably damaging |
Het |
| Qrich1 |
C |
T |
9: 108,541,736 |
P464S |
possibly damaging |
Het |
| Rab17 |
A |
T |
1: 90,960,138 |
|
probably null |
Het |
| Rspo3 |
A |
T |
10: 29,506,447 |
L77H |
probably damaging |
Het |
| Spn |
G |
T |
7: 127,137,230 |
T35K |
probably benign |
Het |
| Sult1d1 |
T |
A |
5: 87,559,844 |
Y139F |
possibly damaging |
Het |
| Tbc1d32 |
C |
A |
10: 56,123,531 |
Q848H |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,596,933 |
V115A |
probably benign |
Het |
| Tram1l1 |
T |
A |
3: 124,321,644 |
L151* |
probably null |
Het |
| Trappc12 |
T |
A |
12: 28,692,513 |
I682L |
possibly damaging |
Het |
| Trav6d-4 |
A |
C |
14: 52,753,599 |
T31P |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,348,188 |
T503A |
probably benign |
Het |
| Virma |
T |
A |
4: 11,542,116 |
Y1567* |
probably null |
Het |
| Vmn1r228 |
T |
A |
17: 20,776,681 |
K192* |
probably null |
Het |
| Zfp521 |
T |
A |
18: 13,844,273 |
T1028S |
possibly damaging |
Het |
| Zfp583 |
T |
A |
7: 6,317,398 |
Q205L |
probably benign |
Het |
|
| Other mutations in Ank1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00972:Ank1
|
APN |
8 |
23141644 |
missense |
probably damaging |
1.00 |
|
IGL01099:Ank1
|
APN |
8 |
23108249 |
missense |
probably damaging |
0.97 |
|
IGL01586:Ank1
|
APN |
8 |
23120912 |
missense |
probably benign |
|
|
IGL01866:Ank1
|
APN |
8 |
23093855 |
missense |
possibly damaging |
0.88 |
|
IGL01977:Ank1
|
APN |
8 |
23115433 |
missense |
probably benign |
0.01 |
|
IGL02109:Ank1
|
APN |
8 |
23096184 |
missense |
probably damaging |
1.00 |
|
IGL02182:Ank1
|
APN |
8 |
23113852 |
missense |
possibly damaging |
0.89 |
|
IGL02261:Ank1
|
APN |
8 |
23087999 |
missense |
probably damaging |
1.00 |
|
IGL02283:Ank1
|
APN |
8 |
23119434 |
critical splice donor site |
probably null |
|
|
IGL02335:Ank1
|
APN |
8 |
23135638 |
missense |
possibly damaging |
0.86 |
|
IGL02933:Ank1
|
APN |
8 |
23122865 |
missense |
possibly damaging |
0.52 |
|
IGL03056:Ank1
|
APN |
8 |
23141179 |
missense |
probably damaging |
1.00 |
|
IGL03089:Ank1
|
APN |
8 |
23104832 |
missense |
probably benign |
0.00 |
|
IGL03257:Ank1
|
APN |
8 |
23122898 |
missense |
probably damaging |
1.00 |
|
IGL03389:Ank1
|
APN |
8 |
23088060 |
critical splice donor site |
probably null |
|
|
Hema6
|
UTSW |
8 |
23097637 |
intron |
probably benign |
|
|
BB006:Ank1
|
UTSW |
8 |
23116107 |
missense |
probably damaging |
1.00 |
|
BB016:Ank1
|
UTSW |
8 |
23116107 |
missense |
probably damaging |
1.00 |
|
R0030:Ank1
|
UTSW |
8 |
23093893 |
missense |
probably damaging |
1.00 |
|
R0077:Ank1
|
UTSW |
8 |
23140167 |
missense |
probably damaging |
1.00 |
|
R0081:Ank1
|
UTSW |
8 |
23116242 |
missense |
possibly damaging |
0.95 |
|
R0147:Ank1
|
UTSW |
8 |
23123977 |
missense |
probably damaging |
1.00 |
|
R0148:Ank1
|
UTSW |
8 |
23123977 |
missense |
probably damaging |
1.00 |
|
R0200:Ank1
|
UTSW |
8 |
23096812 |
missense |
probably damaging |
1.00 |
|
R0270:Ank1
|
UTSW |
8 |
23088925 |
splice site |
probably benign |
|
|
R0309:Ank1
|
UTSW |
8 |
23104809 |
missense |
probably damaging |
1.00 |
|
R0490:Ank1
|
UTSW |
8 |
23107874 |
splice site |
probably benign |
|
|
R0675:Ank1
|
UTSW |
8 |
23110384 |
splice site |
probably benign |
|
|
R0738:Ank1
|
UTSW |
8 |
23114114 |
missense |
probably damaging |
0.98 |
|
R1051:Ank1
|
UTSW |
8 |
23093940 |
missense |
probably damaging |
1.00 |
|
R1239:Ank1
|
UTSW |
8 |
23096155 |
missense |
probably damaging |
1.00 |
|
R1265:Ank1
|
UTSW |
8 |
23117037 |
missense |
possibly damaging |
0.64 |
|
R1367:Ank1
|
UTSW |
8 |
23111803 |
splice site |
probably benign |
|
|
R1413:Ank1
|
UTSW |
8 |
23119377 |
missense |
probably damaging |
1.00 |
|
R1539:Ank1
|
UTSW |
8 |
23093919 |
missense |
probably damaging |
1.00 |
|
R1682:Ank1
|
UTSW |
8 |
23109327 |
missense |
probably damaging |
1.00 |
|
R1732:Ank1
|
UTSW |
8 |
23111463 |
splice site |
probably benign |
|
|
R1911:Ank1
|
UTSW |
8 |
23099650 |
missense |
probably damaging |
1.00 |
|
R2087:Ank1
|
UTSW |
8 |
23093811 |
missense |
probably damaging |
1.00 |
|
R2184:Ank1
|
UTSW |
8 |
23109254 |
missense |
probably damaging |
0.98 |
|
R2302:Ank1
|
UTSW |
8 |
23119399 |
missense |
probably damaging |
1.00 |
|
R2356:Ank1
|
UTSW |
8 |
23085672 |
missense |
probably damaging |
1.00 |
|
R2495:Ank1
|
UTSW |
8 |
23132264 |
missense |
probably damaging |
1.00 |
|
R3000:Ank1
|
UTSW |
8 |
23119431 |
missense |
probably damaging |
1.00 |
|
R3113:Ank1
|
UTSW |
8 |
23084797 |
missense |
probably damaging |
1.00 |
|
R3710:Ank1
|
UTSW |
8 |
23087079 |
missense |
probably damaging |
1.00 |
|
R3768:Ank1
|
UTSW |
8 |
23116186 |
missense |
possibly damaging |
0.92 |
|
R3771:Ank1
|
UTSW |
8 |
23123897 |
missense |
probably benign |
0.03 |
|
R4002:Ank1
|
UTSW |
8 |
23139463 |
missense |
probably damaging |
0.98 |
|
R4478:Ank1
|
UTSW |
8 |
23120578 |
missense |
probably benign |
0.30 |
|
R4755:Ank1
|
UTSW |
8 |
23104974 |
missense |
probably damaging |
1.00 |
|
R4756:Ank1
|
UTSW |
8 |
23122877 |
missense |
probably benign |
|
|
R4979:Ank1
|
UTSW |
8 |
23132196 |
missense |
probably damaging |
0.98 |
|
R4989:Ank1
|
UTSW |
8 |
23141118 |
intron |
probably benign |
|
|
R5011:Ank1
|
UTSW |
8 |
23082284 |
missense |
probably damaging |
1.00 |
|
R5013:Ank1
|
UTSW |
8 |
23082284 |
missense |
probably damaging |
1.00 |
|
R5051:Ank1
|
UTSW |
8 |
23119381 |
missense |
probably damaging |
1.00 |
|
R5059:Ank1
|
UTSW |
8 |
23096188 |
missense |
probably damaging |
0.99 |
|
R5086:Ank1
|
UTSW |
8 |
23088618 |
missense |
probably damaging |
1.00 |
|
R5108:Ank1
|
UTSW |
8 |
23132555 |
missense |
probably benign |
0.11 |
|
R5235:Ank1
|
UTSW |
8 |
23082196 |
missense |
probably damaging |
1.00 |
|
R5300:Ank1
|
UTSW |
8 |
23132501 |
missense |
probably benign |
0.00 |
|
R5408:Ank1
|
UTSW |
8 |
23082193 |
missense |
probably damaging |
1.00 |
|
R5537:Ank1
|
UTSW |
8 |
23114876 |
missense |
probably damaging |
1.00 |
|
R5728:Ank1
|
UTSW |
8 |
23122767 |
critical splice acceptor site |
probably null |
|
|
R5746:Ank1
|
UTSW |
8 |
23116596 |
missense |
probably damaging |
1.00 |
|
R5837:Ank1
|
UTSW |
8 |
23104790 |
missense |
probably damaging |
0.99 |
|
R5907:Ank1
|
UTSW |
8 |
23140204 |
missense |
probably damaging |
1.00 |
|
R5997:Ank1
|
UTSW |
8 |
23099662 |
missense |
probably damaging |
1.00 |
|
R6005:Ank1
|
UTSW |
8 |
23132202 |
missense |
probably damaging |
1.00 |
|
R6046:Ank1
|
UTSW |
8 |
23116098 |
missense |
probably damaging |
1.00 |
|
R6103:Ank1
|
UTSW |
8 |
23113983 |
missense |
probably damaging |
1.00 |
|
R6268:Ank1
|
UTSW |
8 |
23109671 |
missense |
probably damaging |
1.00 |
|
R6430:Ank1
|
UTSW |
8 |
23132109 |
missense |
probably damaging |
1.00 |
|
R6457:Ank1
|
UTSW |
8 |
23087967 |
missense |
probably damaging |
1.00 |
|
R6626:Ank1
|
UTSW |
8 |
22975191 |
missense |
probably damaging |
0.98 |
|
R6935:Ank1
|
UTSW |
8 |
23108231 |
missense |
probably damaging |
1.00 |
|
R7091:Ank1
|
UTSW |
8 |
23058663 |
missense |
probably benign |
|
|
R7162:Ank1
|
UTSW |
8 |
23132354 |
missense |
possibly damaging |
0.94 |
|
R7475:Ank1
|
UTSW |
8 |
23132630 |
missense |
probably benign |
|
|
R7546:Ank1
|
UTSW |
8 |
23064995 |
missense |
probably damaging |
1.00 |
|
R7678:Ank1
|
UTSW |
8 |
23117058 |
missense |
probably damaging |
0.98 |
|
R7768:Ank1
|
UTSW |
8 |
23097997 |
missense |
probably benign |
0.01 |
|
R7779:Ank1
|
UTSW |
8 |
23096747 |
critical splice acceptor site |
probably null |
|
|
R7864:Ank1
|
UTSW |
8 |
23087960 |
missense |
probably damaging |
1.00 |
|
R7929:Ank1
|
UTSW |
8 |
23116107 |
missense |
probably damaging |
1.00 |
|
R7982:Ank1
|
UTSW |
8 |
23119381 |
missense |
probably damaging |
1.00 |
|
R7984:Ank1
|
UTSW |
8 |
23088966 |
missense |
probably damaging |
1.00 |
|
R8273:Ank1
|
UTSW |
8 |
23085652 |
missense |
probably damaging |
1.00 |
|
R8318:Ank1
|
UTSW |
8 |
23115551 |
missense |
probably damaging |
0.99 |
|
R8349:Ank1
|
UTSW |
8 |
23139286 |
missense |
possibly damaging |
0.66 |
|
R8449:Ank1
|
UTSW |
8 |
23139286 |
missense |
possibly damaging |
0.66 |
|
R8459:Ank1
|
UTSW |
8 |
23115512 |
missense |
probably damaging |
1.00 |
|
R8506:Ank1
|
UTSW |
8 |
23096835 |
missense |
probably damaging |
1.00 |
|
R8889:Ank1
|
UTSW |
8 |
23116974 |
missense |
probably damaging |
1.00 |
|
R8893:Ank1
|
UTSW |
8 |
23108225 |
missense |
probably damaging |
1.00 |
|
R8924:Ank1
|
UTSW |
8 |
23098995 |
missense |
probably benign |
0.00 |
|
R8993:Ank1
|
UTSW |
8 |
23098939 |
missense |
probably damaging |
1.00 |
|
R9016:Ank1
|
UTSW |
8 |
23116248 |
missense |
probably null |
0.99 |
|
R9017:Ank1
|
UTSW |
8 |
23116248 |
missense |
probably null |
0.99 |
|
R9018:Ank1
|
UTSW |
8 |
23116248 |
missense |
probably null |
0.99 |
|
R9086:Ank1
|
UTSW |
8 |
23099620 |
missense |
probably damaging |
0.96 |
|
R9154:Ank1
|
UTSW |
8 |
23115371 |
missense |
probably damaging |
0.96 |
|
R9194:Ank1
|
UTSW |
8 |
23116239 |
missense |
possibly damaging |
0.64 |
|
R9347:Ank1
|
UTSW |
8 |
23117060 |
missense |
possibly damaging |
0.65 |
|
R9419:Ank1
|
UTSW |
8 |
23084809 |
missense |
probably damaging |
1.00 |
|
R9452:Ank1
|
UTSW |
8 |
23132413 |
missense |
probably benign |
0.00 |
|
R9568:Ank1
|
UTSW |
8 |
23119365 |
missense |
probably benign |
|
|
R9689:Ank1
|
UTSW |
8 |
23141237 |
missense |
probably benign |
|
|
R9747:Ank1
|
UTSW |
8 |
23086977 |
missense |
probably damaging |
0.97 |
|
RF024:Ank1
|
UTSW |
8 |
23119344 |
missense |
probably benign |
0.37 |
|
X0066:Ank1
|
UTSW |
8 |
23141584 |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCGTGTTGTAGGGTGAC -3'
(R):5'- CAAAACCTCTGAAGTTGCCTAAGAC -3'
Sequencing Primer
(F):5'- ACGAGTGGATCCGGGTTC -3'
(R):5'- GACCTTTTCACAGGGGTAGCATATC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation