Incidental Mutation 'R5295:Ank2'
ID |
405347 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ank2
|
Ensembl Gene |
ENSMUSG00000032826 |
Gene Name |
ankyrin 2, brain |
Synonyms |
Ankyrin-B, Ank-2, Ankyrin-2, Gm4392, ankyrin B |
MMRRC Submission |
042878-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5295 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
126921612-127499350 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127032183 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 378
(H378R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138730
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182008]
[ENSMUST00000182064]
[ENSMUST00000182078]
[ENSMUST00000182547]
[ENSMUST00000182610]
[ENSMUST00000182711]
[ENSMUST00000182959]
[ENSMUST00000182994]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182008
AA Change: H378R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138730 Gene: ENSMUSG00000032826 AA Change: H378R
Domain | Start | End | E-Value | Type |
ANK
|
42 |
71 |
1.63e3 |
SMART |
ANK
|
75 |
104 |
1.4e-4 |
SMART |
ANK
|
108 |
137 |
6.76e-7 |
SMART |
ANK
|
141 |
170 |
4.46e-7 |
SMART |
ANK
|
174 |
202 |
8.36e1 |
SMART |
ANK
|
203 |
232 |
1.17e2 |
SMART |
ANK
|
236 |
265 |
1.76e-5 |
SMART |
ANK
|
269 |
298 |
6.76e-7 |
SMART |
ANK
|
302 |
331 |
1.43e-5 |
SMART |
ANK
|
335 |
364 |
3.33e-6 |
SMART |
ANK
|
368 |
397 |
2.02e-5 |
SMART |
ANK
|
401 |
430 |
9.55e-7 |
SMART |
ANK
|
434 |
463 |
1.76e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182064
AA Change: H374R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138620 Gene: ENSMUSG00000032826 AA Change: H374R
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 |
probably benign
Transcript: ENSMUST00000182078
AA Change: H353R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138753 Gene: ENSMUSG00000032826 AA Change: H353R
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: ENSMUST00000182547
AA Change: H386R
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000138602 Gene: ENSMUSG00000032826 AA Change: H386R
Domain | Start | End | E-Value | Type |
ANK
|
42 |
71 |
1.63e3 |
SMART |
ANK
|
75 |
104 |
1.4e-4 |
SMART |
ANK
|
108 |
137 |
6.76e-7 |
SMART |
ANK
|
141 |
170 |
4.46e-7 |
SMART |
ANK
|
174 |
202 |
8.36e1 |
SMART |
ANK
|
203 |
232 |
1.17e2 |
SMART |
ANK
|
244 |
273 |
1.76e-5 |
SMART |
ANK
|
277 |
306 |
6.76e-7 |
SMART |
ANK
|
310 |
339 |
1.43e-5 |
SMART |
ANK
|
343 |
372 |
3.33e-6 |
SMART |
ANK
|
376 |
405 |
2.02e-5 |
SMART |
ANK
|
409 |
438 |
9.55e-7 |
SMART |
ANK
|
442 |
471 |
1.76e-5 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182610
AA Change: H353R
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138231 Gene: ENSMUSG00000032826 AA Change: H353R
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182711
AA Change: H370R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000138781 Gene: ENSMUSG00000032826 AA Change: H370R
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 damaging
Transcript: ENSMUST00000182959
AA Change: H353R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000138251 Gene: ENSMUSG00000032826 AA Change: H353R
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 |
probably benign
Transcript: ENSMUST00000182994
AA Change: H389R
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000138089 Gene: ENSMUSG00000032826 AA Change: H389R
Domain | Start | End | E-Value | Type |
ANK
|
45 |
74 |
1.63e3 |
SMART |
ANK
|
78 |
107 |
1.4e-4 |
SMART |
ANK
|
111 |
140 |
6.76e-7 |
SMART |
ANK
|
144 |
173 |
4.46e-7 |
SMART |
ANK
|
177 |
205 |
8.36e1 |
SMART |
ANK
|
206 |
235 |
1.17e2 |
SMART |
ANK
|
247 |
276 |
1.76e-5 |
SMART |
ANK
|
280 |
309 |
6.76e-7 |
SMART |
ANK
|
313 |
342 |
1.43e-5 |
SMART |
ANK
|
346 |
375 |
3.33e-6 |
SMART |
ANK
|
379 |
408 |
2.02e-5 |
SMART |
|
Meta Mutation Damage Score |
0.2935  |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk2 |
C |
T |
18: 65,305,038 |
E1095K |
probably damaging |
Het |
Alpl |
T |
C |
4: 137,749,608 |
T245A |
probably benign |
Het |
Arhgef1 |
G |
A |
7: 24,919,352 |
|
probably null |
Het |
Atp5c1 |
T |
C |
2: 10,068,733 |
R10G |
possibly damaging |
Het |
Cbln3 |
T |
C |
14: 55,883,463 |
|
probably null |
Het |
Ccr10 |
C |
T |
11: 101,174,285 |
V140M |
possibly damaging |
Het |
Cep135 |
T |
A |
5: 76,593,204 |
H42Q |
possibly damaging |
Het |
Commd5 |
C |
A |
15: 76,900,952 |
T183K |
possibly damaging |
Het |
Dnajc16 |
T |
C |
4: 141,767,928 |
E493G |
possibly damaging |
Het |
Ears2 |
T |
C |
7: 122,048,198 |
R288G |
probably damaging |
Het |
Elovl4 |
G |
A |
9: 83,780,661 |
P273L |
possibly damaging |
Het |
Fam186b |
T |
A |
15: 99,283,874 |
I148F |
probably damaging |
Het |
Fryl |
T |
C |
5: 73,112,791 |
Y79C |
probably damaging |
Het |
Gad1-ps |
A |
G |
10: 99,444,889 |
|
noncoding transcript |
Het |
Gm14325 |
G |
A |
2: 177,832,984 |
H102Y |
possibly damaging |
Het |
Gm8882 |
T |
G |
6: 132,361,877 |
Q126P |
unknown |
Het |
Ighv1-77 |
T |
A |
12: 115,861,908 |
S104C |
probably damaging |
Het |
Kcnv1 |
T |
C |
15: 45,114,591 |
D17G |
unknown |
Het |
Lmtk3 |
G |
A |
7: 45,791,298 |
D243N |
probably damaging |
Het |
Lrrc7 |
T |
A |
3: 158,170,739 |
K571N |
probably damaging |
Het |
Lsm7 |
T |
C |
10: 80,854,620 |
E32G |
probably damaging |
Het |
Ly6f |
A |
G |
15: 75,271,639 |
Q65R |
probably benign |
Het |
Perm1 |
T |
C |
4: 156,217,518 |
L173P |
probably benign |
Het |
Plvap |
T |
C |
8: 71,511,670 |
Q16R |
probably benign |
Het |
Prl7d1 |
A |
T |
13: 27,709,247 |
V227D |
probably damaging |
Het |
Prss54 |
T |
C |
8: 95,564,478 |
T165A |
probably damaging |
Het |
Psrc1 |
A |
G |
3: 108,386,359 |
I195V |
probably benign |
Het |
Rnf123 |
AT |
ATT |
9: 108,064,003 |
|
probably null |
Het |
Rnf213 |
A |
T |
11: 119,440,816 |
T2284S |
probably benign |
Het |
Serpina3c |
T |
C |
12: 104,148,378 |
E333G |
probably damaging |
Het |
Serpinb6c |
A |
G |
13: 33,893,817 |
F190S |
probably damaging |
Het |
Sfmbt1 |
G |
A |
14: 30,774,029 |
D90N |
probably damaging |
Het |
Tdh |
T |
C |
14: 63,496,109 |
Y110C |
probably damaging |
Het |
Tdrd9 |
T |
A |
12: 112,051,912 |
L1255* |
probably null |
Het |
Trim41 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCCTCCTCC |
11: 48,816,257 |
|
probably benign |
Het |
Vps51 |
T |
G |
19: 6,071,033 |
E283D |
probably benign |
Het |
Zbtb2 |
T |
C |
10: 4,368,508 |
K506R |
probably damaging |
Het |
Zmiz1 |
T |
C |
14: 25,656,347 |
L800P |
probably damaging |
Het |
Znhit6 |
A |
G |
3: 145,600,493 |
D251G |
probably benign |
Het |
|
Other mutations in Ank2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01298:Ank2
|
APN |
3 |
126959720 |
missense |
possibly damaging |
0.80 |
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 |
126955870 |
missense |
probably damaging |
1.00 |
IGL02981:Ank2
|
APN |
3 |
126934562 |
missense |
possibly damaging |
0.58 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCATCAATTTGGCTAGTGG -3'
(R):5'- TCAGGTCTCCAAACATGAGAGTC -3'
Sequencing Primer
(F):5'- GGAAAAGCTTGGCAGTTATTAACC -3'
(R):5'- TCATAAAAACGAATCACCGAGTTGG -3'
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Posted On |
2016-07-22 |