Incidental Mutation 'IGL01298:Ank2'
ID |
73201 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ank2
|
Ensembl Gene |
ENSMUSG00000032826 |
Gene Name |
ankyrin 2, brain |
Synonyms |
Ankyrin-B, Ank-2, Ankyrin-2, Gm4392, ankyrin B |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01298
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
126921612-127499350 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 126959720 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 304
(V304A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043765
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044443]
[ENSMUST00000182064]
[ENSMUST00000182078]
[ENSMUST00000182711]
[ENSMUST00000182959]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044443
AA Change: V304A
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000043765 Gene: ENSMUSG00000032826 AA Change: V304A
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
22 |
N/A |
INTRINSIC |
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
ZU5
|
128 |
232 |
4.13e-61 |
SMART |
Pfam:ZU5
|
289 |
374 |
2.8e-8 |
PFAM |
low complexity region
|
587 |
597 |
N/A |
INTRINSIC |
DEATH
|
603 |
697 |
1.52e-27 |
SMART |
low complexity region
|
732 |
748 |
N/A |
INTRINSIC |
low complexity region
|
860 |
873 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182025
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182062
|
Predicted Effect |
unknown
Transcript: ENSMUST00000182064
AA Change: V1175A
|
SMART Domains |
Protein: ENSMUSP00000138620 Gene: ENSMUSG00000032826 AA Change: V1175A
Domain | Start | End | E-Value | Type |
ANK
|
9 |
38 |
1e1 |
SMART |
ANK
|
42 |
71 |
8.9e-7 |
SMART |
ANK
|
75 |
104 |
4.4e-9 |
SMART |
ANK
|
108 |
137 |
2.8e-9 |
SMART |
ANK
|
141 |
169 |
5.3e-1 |
SMART |
ANK
|
170 |
199 |
7.3e-1 |
SMART |
ANK
|
211 |
240 |
1.1e-7 |
SMART |
ANK
|
244 |
273 |
4.4e-9 |
SMART |
ANK
|
277 |
306 |
9.3e-8 |
SMART |
ANK
|
310 |
339 |
2.1e-8 |
SMART |
ANK
|
343 |
372 |
1.3e-7 |
SMART |
ANK
|
376 |
405 |
6.2e-9 |
SMART |
ANK
|
409 |
438 |
1.1e-7 |
SMART |
ANK
|
442 |
471 |
2.9e-8 |
SMART |
ANK
|
475 |
504 |
1.1e-5 |
SMART |
ANK
|
508 |
537 |
6.5e-6 |
SMART |
ANK
|
541 |
570 |
2.3e-7 |
SMART |
ANK
|
574 |
603 |
2.4e-7 |
SMART |
ANK
|
607 |
636 |
3.2e-9 |
SMART |
ANK
|
640 |
669 |
5.5e-5 |
SMART |
ANK
|
673 |
702 |
1.9e-8 |
SMART |
ANK
|
706 |
735 |
3.3e-9 |
SMART |
low complexity region
|
755 |
775 |
N/A |
INTRINSIC |
low complexity region
|
793 |
806 |
N/A |
INTRINSIC |
low complexity region
|
841 |
853 |
N/A |
INTRINSIC |
ZU5
|
912 |
1016 |
2e-63 |
SMART |
low complexity region
|
1371 |
1381 |
N/A |
INTRINSIC |
low complexity region
|
1448 |
1463 |
N/A |
INTRINSIC |
low complexity region
|
1490 |
1503 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000182078
AA Change: V1088A
|
SMART Domains |
Protein: ENSMUSP00000138753 Gene: ENSMUSG00000032826 AA Change: V1088A
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
low complexity region
|
114 |
125 |
N/A |
INTRINSIC |
low complexity region
|
191 |
209 |
N/A |
INTRINSIC |
low complexity region
|
304 |
312 |
N/A |
INTRINSIC |
low complexity region
|
478 |
493 |
N/A |
INTRINSIC |
low complexity region
|
527 |
544 |
N/A |
INTRINSIC |
DEATH
|
591 |
685 |
1e-29 |
SMART |
low complexity region
|
720 |
736 |
N/A |
INTRINSIC |
low complexity region
|
848 |
861 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182711
AA Change: V1170A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138781 Gene: ENSMUSG00000032826 AA Change: V1170A
Domain | Start | End | E-Value | Type |
ANK
|
26 |
55 |
1e1 |
SMART |
ANK
|
59 |
88 |
8.9e-7 |
SMART |
ANK
|
92 |
121 |
4.4e-9 |
SMART |
ANK
|
125 |
154 |
2.8e-9 |
SMART |
ANK
|
158 |
186 |
5.3e-1 |
SMART |
ANK
|
187 |
216 |
7.3e-1 |
SMART |
ANK
|
228 |
257 |
1.1e-7 |
SMART |
ANK
|
261 |
290 |
4.4e-9 |
SMART |
ANK
|
294 |
323 |
9.3e-8 |
SMART |
ANK
|
327 |
356 |
2.1e-8 |
SMART |
ANK
|
360 |
389 |
1.3e-7 |
SMART |
ANK
|
393 |
422 |
6.2e-9 |
SMART |
ANK
|
426 |
455 |
1.1e-7 |
SMART |
ANK
|
459 |
488 |
2.9e-8 |
SMART |
ANK
|
492 |
521 |
1.1e-5 |
SMART |
ANK
|
525 |
554 |
6.5e-6 |
SMART |
ANK
|
558 |
587 |
2.3e-7 |
SMART |
ANK
|
591 |
620 |
5.3e-7 |
SMART |
ANK
|
624 |
653 |
2.4e-7 |
SMART |
ANK
|
657 |
686 |
3.2e-9 |
SMART |
ANK
|
690 |
719 |
5.5e-5 |
SMART |
ANK
|
723 |
752 |
1.9e-8 |
SMART |
ANK
|
756 |
785 |
3.3e-9 |
SMART |
low complexity region
|
805 |
825 |
N/A |
INTRINSIC |
low complexity region
|
843 |
856 |
N/A |
INTRINSIC |
ZU5
|
961 |
1098 |
1.1e-50 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182959
|
SMART Domains |
Protein: ENSMUSP00000138251 Gene: ENSMUSG00000032826
Domain | Start | End | E-Value | Type |
ANK
|
9 |
38 |
1.63e3 |
SMART |
ANK
|
42 |
71 |
1.4e-4 |
SMART |
ANK
|
75 |
104 |
6.76e-7 |
SMART |
ANK
|
108 |
137 |
4.46e-7 |
SMART |
ANK
|
141 |
169 |
8.36e1 |
SMART |
ANK
|
170 |
199 |
1.17e2 |
SMART |
ANK
|
211 |
240 |
1.76e-5 |
SMART |
ANK
|
244 |
273 |
6.76e-7 |
SMART |
ANK
|
277 |
306 |
1.43e-5 |
SMART |
ANK
|
310 |
339 |
3.33e-6 |
SMART |
ANK
|
343 |
372 |
2.02e-5 |
SMART |
ANK
|
376 |
405 |
9.55e-7 |
SMART |
ANK
|
409 |
438 |
1.76e-5 |
SMART |
ANK
|
442 |
471 |
4.71e-6 |
SMART |
ANK
|
475 |
504 |
1.7e-3 |
SMART |
ANK
|
508 |
537 |
1.05e-3 |
SMART |
ANK
|
541 |
570 |
3.51e-5 |
SMART |
ANK
|
574 |
603 |
8.65e-5 |
SMART |
ANK
|
607 |
636 |
3.76e-5 |
SMART |
ANK
|
640 |
669 |
5.12e-7 |
SMART |
ANK
|
673 |
702 |
8.39e-3 |
SMART |
ANK
|
706 |
735 |
2.9e-6 |
SMART |
ANK
|
739 |
768 |
5.12e-7 |
SMART |
low complexity region
|
788 |
808 |
N/A |
INTRINSIC |
low complexity region
|
826 |
839 |
N/A |
INTRINSIC |
low complexity region
|
874 |
886 |
N/A |
INTRINSIC |
Pfam:ZU5
|
945 |
1028 |
1.5e-30 |
PFAM |
Pfam:ZU5
|
1021 |
1082 |
4.4e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183075
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in death by postnatal day 8, although some animals survive to P20. Mutant animals display reduced body size, impaired balance and locomotion, brain structure dysmorphologies, abnormal lens, and optic nerve degeneration. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adora2a |
G |
T |
10: 75,333,492 |
W263C |
probably damaging |
Het |
Agtpbp1 |
G |
A |
13: 59,504,226 |
H424Y |
possibly damaging |
Het |
Angpt2 |
T |
G |
8: 18,710,528 |
N186T |
probably benign |
Het |
Atg3 |
T |
C |
16: 45,171,673 |
M88T |
possibly damaging |
Het |
Baz1a |
G |
T |
12: 54,954,809 |
P142Q |
probably damaging |
Het |
Btbd1 |
G |
T |
7: 81,794,307 |
|
probably null |
Het |
Cacnb3 |
T |
C |
15: 98,639,853 |
Y70H |
probably damaging |
Het |
Cd4 |
G |
A |
6: 124,879,378 |
T50I |
probably benign |
Het |
Cyp7a1 |
A |
T |
4: 6,275,517 |
W19R |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,531,245 |
I1610F |
probably damaging |
Het |
Gm11444 |
C |
A |
11: 85,848,094 |
D58Y |
unknown |
Het |
Gm7168 |
A |
T |
17: 13,949,858 |
T496S |
probably benign |
Het |
Gpc5 |
A |
G |
14: 115,399,188 |
S428G |
probably benign |
Het |
Haus8 |
T |
C |
8: 71,253,113 |
E309G |
probably damaging |
Het |
Ice1 |
A |
G |
13: 70,604,904 |
L1021P |
possibly damaging |
Het |
Krtap14 |
A |
T |
16: 88,825,727 |
H121Q |
probably benign |
Het |
Nwd1 |
T |
C |
8: 72,662,331 |
V170A |
probably benign |
Het |
Olfr338 |
T |
A |
2: 36,377,448 |
M224K |
probably benign |
Het |
Olfr803 |
T |
C |
10: 129,692,029 |
Y4C |
probably damaging |
Het |
Olfr938 |
G |
A |
9: 39,078,724 |
T7I |
possibly damaging |
Het |
Pfpl |
T |
C |
19: 12,428,673 |
M96T |
possibly damaging |
Het |
Pramel5 |
A |
G |
4: 144,271,162 |
|
probably benign |
Het |
Proc |
T |
C |
18: 32,123,552 |
N354S |
probably benign |
Het |
Prss40 |
T |
G |
1: 34,560,766 |
I47L |
probably benign |
Het |
Tmprss7 |
T |
C |
16: 45,664,175 |
R541G |
probably benign |
Het |
Togaram2 |
T |
C |
17: 71,716,513 |
V788A |
possibly damaging |
Het |
Trbv19 |
T |
C |
6: 41,178,904 |
Y70H |
probably damaging |
Het |
Ttk |
C |
T |
9: 83,865,142 |
S678L |
probably benign |
Het |
Vmn2r85 |
T |
C |
10: 130,418,821 |
T665A |
probably benign |
Het |
|
Other mutations in Ank2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01652:Ank2
|
APN |
3 |
126933041 |
missense |
probably benign |
0.00 |
IGL01969:Ank2
|
APN |
3 |
126953223 |
missense |
possibly damaging |
0.47 |
IGL02122:Ank2
|
APN |
3 |
126937874 |
splice site |
probably benign |
|
IGL02537:Ank2
|
APN |
3 |
126955916 |
missense |
probably damaging |
1.00 |
IGL02858:Ank2
|
APN |
3 |
126955870 |
missense |
probably damaging |
1.00 |
IGL02981:Ank2
|
APN |
3 |
126934562 |
missense |
possibly damaging |
0.58 |
IGL02981:Ank2
|
APN |
3 |
126955870 |
missense |
probably damaging |
1.00 |
IGL03024:Ank2
|
APN |
3 |
126955870 |
missense |
probably damaging |
1.00 |
IGL03074:Ank2
|
APN |
3 |
126955870 |
missense |
probably damaging |
1.00 |
IGL03111:Ank2
|
APN |
3 |
126955870 |
missense |
probably damaging |
1.00 |
IGL03129:Ank2
|
APN |
3 |
126955870 |
missense |
probably damaging |
1.00 |
IGL03174:Ank2
|
APN |
3 |
126940095 |
missense |
probably damaging |
0.98 |
IGL03177:Ank2
|
APN |
3 |
126955870 |
missense |
probably damaging |
1.00 |
IGL03185:Ank2
|
APN |
3 |
126955870 |
missense |
probably damaging |
1.00 |
IGL03188:Ank2
|
APN |
3 |
126955870 |
missense |
probably damaging |
1.00 |
IGL03242:Ank2
|
APN |
3 |
126928805 |
missense |
possibly damaging |
0.90 |
IGL03244:Ank2
|
APN |
3 |
126955870 |
missense |
probably damaging |
1.00 |
IGL03248:Ank2
|
APN |
3 |
126955870 |
missense |
probably damaging |
1.00 |
IGL03285:Ank2
|
APN |
3 |
126955870 |
missense |
probably damaging |
1.00 |
IGL03304:Ank2
|
APN |
3 |
126955870 |
missense |
probably damaging |
1.00 |
IGL03358:Ank2
|
APN |
3 |
126955870 |
missense |
probably damaging |
1.00 |
IGL03380:Ank2
|
APN |
3 |
126955870 |
missense |
probably damaging |
1.00 |
IGL03389:Ank2
|
APN |
3 |
126955870 |
missense |
probably damaging |
1.00 |
IGL03400:Ank2
|
APN |
3 |
126955870 |
missense |
probably damaging |
1.00 |
IGL03409:Ank2
|
APN |
3 |
126955870 |
missense |
probably damaging |
1.00 |
ballast
|
UTSW |
3 |
126943133 |
missense |
unknown |
|
Chain
|
UTSW |
3 |
126946938 |
intron |
probably benign |
|
Deadman
|
UTSW |
3 |
126929822 |
missense |
probably benign |
0.19 |
drag
|
UTSW |
3 |
127003982 |
missense |
probably damaging |
1.00 |
mooring
|
UTSW |
3 |
126934577 |
missense |
possibly damaging |
0.73 |
Treasure
|
UTSW |
3 |
126946749 |
missense |
unknown |
|
Windlass
|
UTSW |
3 |
126946149 |
missense |
probably benign |
|
R0033:Ank2
|
UTSW |
3 |
127104748 |
splice site |
probably benign |
|
R0042:Ank2
|
UTSW |
3 |
126936631 |
missense |
probably damaging |
0.99 |
R0042:Ank2
|
UTSW |
3 |
126936631 |
missense |
probably damaging |
0.99 |
R0079:Ank2
|
UTSW |
3 |
126934615 |
missense |
probably benign |
0.01 |
R0423:Ank2
|
UTSW |
3 |
126929860 |
nonsense |
probably null |
|
R0699:Ank2
|
UTSW |
3 |
126929829 |
missense |
probably benign |
0.00 |
R0724:Ank2
|
UTSW |
3 |
126962337 |
missense |
probably damaging |
1.00 |
R0990:Ank2
|
UTSW |
3 |
126934666 |
missense |
possibly damaging |
0.64 |
R1450:Ank2
|
UTSW |
3 |
126957302 |
missense |
possibly damaging |
0.94 |
R1500:Ank2
|
UTSW |
3 |
126932982 |
missense |
probably benign |
|
R1702:Ank2
|
UTSW |
3 |
126955899 |
missense |
probably benign |
0.00 |
R1703:Ank2
|
UTSW |
3 |
126929766 |
missense |
probably damaging |
1.00 |
R1710:Ank2
|
UTSW |
3 |
126933060 |
nonsense |
probably null |
|
R1743:Ank2
|
UTSW |
3 |
126928675 |
missense |
probably damaging |
0.99 |
R1775:Ank2
|
UTSW |
3 |
126934547 |
missense |
probably benign |
0.00 |
R1852:Ank2
|
UTSW |
3 |
126997851 |
critical splice donor site |
probably null |
|
R2198:Ank2
|
UTSW |
3 |
126934577 |
missense |
possibly damaging |
0.73 |
R2892:Ank2
|
UTSW |
3 |
127248243 |
splice site |
probably null |
|
R2893:Ank2
|
UTSW |
3 |
127248243 |
splice site |
probably null |
|
R2894:Ank2
|
UTSW |
3 |
127248243 |
splice site |
probably null |
|
R3148:Ank2
|
UTSW |
3 |
126933075 |
missense |
probably benign |
0.00 |
R3776:Ank2
|
UTSW |
3 |
126942262 |
intron |
probably benign |
|
R3784:Ank2
|
UTSW |
3 |
126953193 |
missense |
probably damaging |
1.00 |
R3856:Ank2
|
UTSW |
3 |
126929844 |
missense |
probably benign |
0.00 |
R3906:Ank2
|
UTSW |
3 |
127016898 |
missense |
probably damaging |
1.00 |
R3907:Ank2
|
UTSW |
3 |
127016898 |
missense |
probably damaging |
1.00 |
R3953:Ank2
|
UTSW |
3 |
126988160 |
missense |
probably damaging |
1.00 |
R3963:Ank2
|
UTSW |
3 |
126934596 |
missense |
probably benign |
|
R4367:Ank2
|
UTSW |
3 |
126946149 |
missense |
probably benign |
|
R4414:Ank2
|
UTSW |
3 |
127225762 |
critical splice donor site |
probably null |
|
R4432:Ank2
|
UTSW |
3 |
126947806 |
intron |
probably benign |
|
R4433:Ank2
|
UTSW |
3 |
126947806 |
intron |
probably benign |
|
R4579:Ank2
|
UTSW |
3 |
126958963 |
missense |
probably damaging |
1.00 |
R4597:Ank2
|
UTSW |
3 |
126988151 |
missense |
probably damaging |
1.00 |
R4603:Ank2
|
UTSW |
3 |
127032016 |
missense |
probably benign |
0.00 |
R4729:Ank2
|
UTSW |
3 |
126976896 |
nonsense |
probably null |
|
R4815:Ank2
|
UTSW |
3 |
126936761 |
missense |
probably benign |
|
R4826:Ank2
|
UTSW |
3 |
126956001 |
missense |
probably benign |
0.35 |
R4871:Ank2
|
UTSW |
3 |
126959795 |
missense |
probably damaging |
1.00 |
R4880:Ank2
|
UTSW |
3 |
127046826 |
splice site |
probably null |
|
R4915:Ank2
|
UTSW |
3 |
126942671 |
intron |
probably benign |
|
R4935:Ank2
|
UTSW |
3 |
126956064 |
missense |
probably damaging |
1.00 |
R4936:Ank2
|
UTSW |
3 |
126955039 |
missense |
possibly damaging |
0.94 |
R4937:Ank2
|
UTSW |
3 |
126962401 |
missense |
probably damaging |
1.00 |
R4946:Ank2
|
UTSW |
3 |
126941940 |
intron |
probably benign |
|
R4963:Ank2
|
UTSW |
3 |
127032096 |
missense |
probably benign |
0.01 |
R4989:Ank2
|
UTSW |
3 |
126963445 |
missense |
possibly damaging |
0.94 |
R5023:Ank2
|
UTSW |
3 |
126941871 |
intron |
probably benign |
|
R5060:Ank2
|
UTSW |
3 |
126945921 |
intron |
probably benign |
|
R5078:Ank2
|
UTSW |
3 |
126942353 |
intron |
probably benign |
|
R5086:Ank2
|
UTSW |
3 |
126947348 |
intron |
probably benign |
|
R5134:Ank2
|
UTSW |
3 |
126963445 |
missense |
possibly damaging |
0.94 |
R5148:Ank2
|
UTSW |
3 |
127025636 |
splice site |
probably null |
|
R5175:Ank2
|
UTSW |
3 |
127004024 |
missense |
probably damaging |
1.00 |
R5275:Ank2
|
UTSW |
3 |
127032183 |
missense |
probably damaging |
1.00 |
R5295:Ank2
|
UTSW |
3 |
127032183 |
missense |
probably damaging |
1.00 |
R5303:Ank2
|
UTSW |
3 |
126945804 |
intron |
probably benign |
|
R5309:Ank2
|
UTSW |
3 |
126959768 |
missense |
probably damaging |
0.99 |
R5312:Ank2
|
UTSW |
3 |
126959768 |
missense |
probably damaging |
0.99 |
R5352:Ank2
|
UTSW |
3 |
127498991 |
utr 5 prime |
probably benign |
|
R5355:Ank2
|
UTSW |
3 |
126944049 |
intron |
probably benign |
|
R5386:Ank2
|
UTSW |
3 |
126981933 |
missense |
probably benign |
0.01 |
R5396:Ank2
|
UTSW |
3 |
126953226 |
missense |
probably damaging |
1.00 |
R5518:Ank2
|
UTSW |
3 |
126959699 |
missense |
probably damaging |
0.98 |
R5534:Ank2
|
UTSW |
3 |
126947298 |
intron |
probably benign |
|
R5554:Ank2
|
UTSW |
3 |
126998973 |
missense |
possibly damaging |
0.78 |
R5582:Ank2
|
UTSW |
3 |
126946305 |
intron |
probably benign |
|
R5747:Ank2
|
UTSW |
3 |
126941751 |
intron |
probably benign |
|
R5794:Ank2
|
UTSW |
3 |
126930020 |
missense |
probably benign |
0.00 |
R5831:Ank2
|
UTSW |
3 |
127339159 |
start gained |
probably benign |
|
R5925:Ank2
|
UTSW |
3 |
126932963 |
missense |
probably benign |
0.18 |
R5954:Ank2
|
UTSW |
3 |
126997861 |
missense |
probably benign |
0.34 |
R5956:Ank2
|
UTSW |
3 |
126942688 |
intron |
probably benign |
|
R5986:Ank2
|
UTSW |
3 |
127012686 |
missense |
possibly damaging |
0.94 |
R5992:Ank2
|
UTSW |
3 |
126959651 |
critical splice donor site |
probably null |
|
R6020:Ank2
|
UTSW |
3 |
126946821 |
intron |
probably benign |
|
R6027:Ank2
|
UTSW |
3 |
126997879 |
missense |
possibly damaging |
0.92 |
R6049:Ank2
|
UTSW |
3 |
126943020 |
missense |
possibly damaging |
0.95 |
R6060:Ank2
|
UTSW |
3 |
126955952 |
missense |
probably damaging |
1.00 |
R6114:Ank2
|
UTSW |
3 |
127011051 |
missense |
probably damaging |
1.00 |
R6124:Ank2
|
UTSW |
3 |
127248151 |
missense |
probably benign |
0.31 |
R6156:Ank2
|
UTSW |
3 |
126944237 |
missense |
probably damaging |
1.00 |
R6173:Ank2
|
UTSW |
3 |
127052746 |
missense |
probably damaging |
1.00 |
R6176:Ank2
|
UTSW |
3 |
126945471 |
missense |
probably benign |
0.05 |
R6184:Ank2
|
UTSW |
3 |
126962398 |
missense |
probably damaging |
1.00 |
R6199:Ank2
|
UTSW |
3 |
127004006 |
missense |
probably damaging |
1.00 |
R6241:Ank2
|
UTSW |
3 |
127052748 |
missense |
probably damaging |
1.00 |
R6254:Ank2
|
UTSW |
3 |
126941804 |
intron |
probably benign |
|
R6259:Ank2
|
UTSW |
3 |
127016986 |
missense |
probably benign |
0.28 |
R6260:Ank2
|
UTSW |
3 |
126943557 |
missense |
probably benign |
|
R6321:Ank2
|
UTSW |
3 |
126946938 |
intron |
probably benign |
|
R6393:Ank2
|
UTSW |
3 |
126929757 |
missense |
probably damaging |
1.00 |
R6406:Ank2
|
UTSW |
3 |
127032225 |
missense |
probably damaging |
1.00 |
R6544:Ank2
|
UTSW |
3 |
126933222 |
missense |
probably damaging |
0.99 |
R6583:Ank2
|
UTSW |
3 |
127016964 |
missense |
probably damaging |
1.00 |
R6739:Ank2
|
UTSW |
3 |
127079994 |
missense |
probably damaging |
1.00 |
R6754:Ank2
|
UTSW |
3 |
127096839 |
intron |
probably benign |
|
R6786:Ank2
|
UTSW |
3 |
126958932 |
missense |
probably damaging |
0.99 |
R6798:Ank2
|
UTSW |
3 |
126944264 |
intron |
probably benign |
|
R6882:Ank2
|
UTSW |
3 |
126945757 |
intron |
probably benign |
|
R6940:Ank2
|
UTSW |
3 |
126941972 |
intron |
probably benign |
|
R6949:Ank2
|
UTSW |
3 |
127010884 |
missense |
probably benign |
0.00 |
R7001:Ank2
|
UTSW |
3 |
127077581 |
missense |
probably damaging |
1.00 |
R7033:Ank2
|
UTSW |
3 |
126944850 |
nonsense |
probably null |
|
R7036:Ank2
|
UTSW |
3 |
126946392 |
intron |
probably benign |
|
R7045:Ank2
|
UTSW |
3 |
127012744 |
missense |
probably damaging |
1.00 |
R7048:Ank2
|
UTSW |
3 |
127025618 |
missense |
probably benign |
0.03 |
R7054:Ank2
|
UTSW |
3 |
126943303 |
intron |
probably benign |
|
R7069:Ank2
|
UTSW |
3 |
126946298 |
intron |
probably benign |
|
R7091:Ank2
|
UTSW |
3 |
127023351 |
missense |
probably damaging |
0.98 |
R7107:Ank2
|
UTSW |
3 |
127003982 |
missense |
probably damaging |
1.00 |
R7175:Ank2
|
UTSW |
3 |
126946941 |
missense |
unknown |
|
R7191:Ank2
|
UTSW |
3 |
126946392 |
missense |
unknown |
|
R7272:Ank2
|
UTSW |
3 |
126943133 |
missense |
unknown |
|
R7381:Ank2
|
UTSW |
3 |
126936628 |
missense |
possibly damaging |
0.46 |
R7394:Ank2
|
UTSW |
3 |
126936653 |
missense |
possibly damaging |
0.77 |
R7462:Ank2
|
UTSW |
3 |
126943034 |
missense |
unknown |
|
R7490:Ank2
|
UTSW |
3 |
126958889 |
missense |
probably damaging |
0.99 |
R7514:Ank2
|
UTSW |
3 |
127025603 |
missense |
probably benign |
0.06 |
R7534:Ank2
|
UTSW |
3 |
126934333 |
splice site |
probably null |
|
R7540:Ank2
|
UTSW |
3 |
126988159 |
missense |
possibly damaging |
0.94 |
R7547:Ank2
|
UTSW |
3 |
126945203 |
missense |
unknown |
|
R7579:Ank2
|
UTSW |
3 |
126946398 |
missense |
unknown |
|
R7584:Ank2
|
UTSW |
3 |
126946128 |
nonsense |
probably null |
|
R7625:Ank2
|
UTSW |
3 |
127052800 |
missense |
probably damaging |
1.00 |
R7698:Ank2
|
UTSW |
3 |
127032211 |
missense |
probably benign |
0.35 |
R7716:Ank2
|
UTSW |
3 |
126943166 |
missense |
unknown |
|
R7718:Ank2
|
UTSW |
3 |
126965013 |
missense |
possibly damaging |
0.88 |
R7722:Ank2
|
UTSW |
3 |
127029302 |
missense |
probably benign |
0.01 |
R7738:Ank2
|
UTSW |
3 |
126947622 |
missense |
|
|
R7977:Ank2
|
UTSW |
3 |
126945707 |
missense |
unknown |
|
R7987:Ank2
|
UTSW |
3 |
126945707 |
missense |
unknown |
|
R8007:Ank2
|
UTSW |
3 |
126936447 |
intron |
probably benign |
|
R8150:Ank2
|
UTSW |
3 |
126947513 |
missense |
|
|
R8161:Ank2
|
UTSW |
3 |
127032129 |
missense |
|
|
R8196:Ank2
|
UTSW |
3 |
126929883 |
missense |
probably damaging |
0.99 |
R8248:Ank2
|
UTSW |
3 |
126937785 |
missense |
possibly damaging |
0.78 |
R8255:Ank2
|
UTSW |
3 |
126946749 |
missense |
unknown |
|
R8279:Ank2
|
UTSW |
3 |
126933171 |
missense |
probably benign |
0.04 |
R8300:Ank2
|
UTSW |
3 |
127010906 |
missense |
|
|
R8716:Ank2
|
UTSW |
3 |
126942839 |
nonsense |
probably null |
|
R8724:Ank2
|
UTSW |
3 |
126943756 |
missense |
unknown |
|
R8765:Ank2
|
UTSW |
3 |
127057082 |
missense |
possibly damaging |
0.94 |
R8779:Ank2
|
UTSW |
3 |
126965102 |
missense |
probably damaging |
0.99 |
R8783:Ank2
|
UTSW |
3 |
127052806 |
missense |
probably damaging |
1.00 |
R8785:Ank2
|
UTSW |
3 |
126997921 |
missense |
probably damaging |
1.00 |
R8826:Ank2
|
UTSW |
3 |
126947302 |
missense |
unknown |
|
R8872:Ank2
|
UTSW |
3 |
126997876 |
missense |
possibly damaging |
0.88 |
R8903:Ank2
|
UTSW |
3 |
127046782 |
missense |
probably damaging |
1.00 |
R8906:Ank2
|
UTSW |
3 |
126933071 |
missense |
probably benign |
0.00 |
R8918:Ank2
|
UTSW |
3 |
126943731 |
missense |
unknown |
|
R8947:Ank2
|
UTSW |
3 |
126942747 |
intron |
probably benign |
|
R8977:Ank2
|
UTSW |
3 |
126944926 |
missense |
unknown |
|
R8990:Ank2
|
UTSW |
3 |
127048180 |
critical splice donor site |
probably null |
|
R8994:Ank2
|
UTSW |
3 |
126929822 |
missense |
probably benign |
0.19 |
R9009:Ank2
|
UTSW |
3 |
126934376 |
unclassified |
probably benign |
|
R9123:Ank2
|
UTSW |
3 |
126940095 |
missense |
probably damaging |
1.00 |
R9125:Ank2
|
UTSW |
3 |
126940095 |
missense |
probably damaging |
1.00 |
R9130:Ank2
|
UTSW |
3 |
127016916 |
missense |
|
|
R9175:Ank2
|
UTSW |
3 |
126928753 |
missense |
possibly damaging |
0.52 |
R9220:Ank2
|
UTSW |
3 |
126943437 |
missense |
unknown |
|
R9225:Ank2
|
UTSW |
3 |
126942462 |
missense |
unknown |
|
R9286:Ank2
|
UTSW |
3 |
127052732 |
missense |
probably damaging |
0.99 |
R9325:Ank2
|
UTSW |
3 |
126981855 |
missense |
probably damaging |
0.98 |
R9367:Ank2
|
UTSW |
3 |
126945029 |
missense |
unknown |
|
R9385:Ank2
|
UTSW |
3 |
126959717 |
missense |
probably benign |
0.00 |
R9391:Ank2
|
UTSW |
3 |
126937745 |
missense |
probably damaging |
0.99 |
R9422:Ank2
|
UTSW |
3 |
127096856 |
missense |
unknown |
|
R9536:Ank2
|
UTSW |
3 |
126942382 |
missense |
unknown |
|
R9647:Ank2
|
UTSW |
3 |
126998974 |
missense |
possibly damaging |
0.93 |
R9650:Ank2
|
UTSW |
3 |
126942180 |
missense |
unknown |
|
R9666:Ank2
|
UTSW |
3 |
126933189 |
nonsense |
probably null |
|
R9686:Ank2
|
UTSW |
3 |
126946901 |
missense |
unknown |
|
R9730:Ank2
|
UTSW |
3 |
127225844 |
missense |
|
|
R9738:Ank2
|
UTSW |
3 |
126943472 |
missense |
unknown |
|
R9743:Ank2
|
UTSW |
3 |
126940145 |
missense |
possibly damaging |
0.81 |
R9747:Ank2
|
UTSW |
3 |
126959018 |
missense |
probably damaging |
1.00 |
R9800:Ank2
|
UTSW |
3 |
126946500 |
missense |
unknown |
|
R9803:Ank2
|
UTSW |
3 |
126959077 |
missense |
possibly damaging |
0.64 |
RF020:Ank2
|
UTSW |
3 |
126945476 |
missense |
unknown |
|
Z1088:Ank2
|
UTSW |
3 |
127029509 |
missense |
possibly damaging |
0.45 |
Z1177:Ank2
|
UTSW |
3 |
126944357 |
missense |
unknown |
|
Z1187:Ank2
|
UTSW |
3 |
126955952 |
missense |
probably damaging |
1.00 |
Z1190:Ank2
|
UTSW |
3 |
126955952 |
missense |
probably damaging |
1.00 |
Z1192:Ank2
|
UTSW |
3 |
126955952 |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |