Incidental Mutation 'IGL03071:Anks1'
| ID |
417532 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Anks1
|
| Ensembl Gene |
ENSMUSG00000024219 |
| Gene Name |
ankyrin repeat and SAM domain containing 1 |
| Synonyms |
Odin |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03071
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
28128280-28281749 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28227173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 609
(A609T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025058]
[ENSMUST00000088027]
[ENSMUST00000114842]
|
| AlphaFold |
P59672 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025058
AA Change: A609T
PolyPhen 2
Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000025058
Gene: ENSMUSG00000024219
AA Change: A609T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
62 |
N/A |
INTRINSIC |
|
ANK
|
75 |
104 |
1.08e-5 |
SMART |
|
ANK
|
108 |
137 |
7.42e-4 |
SMART |
|
ANK
|
165 |
194 |
1.88e-5 |
SMART |
|
ANK
|
198 |
227 |
1.93e-2 |
SMART |
|
ANK
|
231 |
260 |
1.64e-5 |
SMART |
|
ANK
|
263 |
292 |
7.71e-2 |
SMART |
|
low complexity region
|
419 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
647 |
N/A |
INTRINSIC |
|
SAM
|
709 |
778 |
3.2e-16 |
SMART |
|
SAM
|
783 |
851 |
4.33e-13 |
SMART |
|
Blast:PTB
|
861 |
919 |
2e-22 |
BLAST |
|
PTB
|
953 |
1087 |
3.17e-43 |
SMART |
|
low complexity region
|
1126 |
1135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088027
AA Change: A588T
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000085344
Gene: ENSMUSG00000024219
AA Change: A588T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
62 |
N/A |
INTRINSIC |
|
ANK
|
75 |
104 |
1.08e-5 |
SMART |
|
ANK
|
108 |
137 |
7.42e-4 |
SMART |
|
ANK
|
144 |
173 |
1.88e-5 |
SMART |
|
ANK
|
177 |
206 |
1.93e-2 |
SMART |
|
ANK
|
210 |
239 |
1.64e-5 |
SMART |
|
ANK
|
242 |
271 |
7.71e-2 |
SMART |
|
low complexity region
|
398 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
626 |
N/A |
INTRINSIC |
|
SAM
|
688 |
757 |
3.2e-16 |
SMART |
|
SAM
|
762 |
830 |
4.33e-13 |
SMART |
|
Blast:PTB
|
840 |
898 |
2e-22 |
BLAST |
|
PTB
|
932 |
1066 |
3.17e-43 |
SMART |
|
low complexity region
|
1105 |
1114 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114842
AA Change: A609T
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000110491
Gene: ENSMUSG00000024219
AA Change: A609T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
62 |
N/A |
INTRINSIC |
|
ANK
|
75 |
104 |
1.08e-5 |
SMART |
|
ANK
|
108 |
137 |
7.42e-4 |
SMART |
|
ANK
|
165 |
194 |
1.88e-5 |
SMART |
|
ANK
|
198 |
227 |
1.93e-2 |
SMART |
|
ANK
|
231 |
260 |
1.64e-5 |
SMART |
|
ANK
|
263 |
292 |
7.71e-2 |
SMART |
|
low complexity region
|
419 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
647 |
N/A |
INTRINSIC |
|
SAM
|
709 |
778 |
3.2e-16 |
SMART |
|
SAM
|
783 |
851 |
4.33e-13 |
SMART |
|
Blast:PTB
|
861 |
919 |
2e-22 |
BLAST |
|
PTB
|
953 |
1087 |
3.17e-43 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139173
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156965
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
A |
8: 41,278,104 (GRCm39) |
L165H |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,989,282 (GRCm39) |
I3522T |
possibly damaging |
Het |
| Apaf1 |
T |
C |
10: 90,833,117 (GRCm39) |
D1138G |
possibly damaging |
Het |
| Appl2 |
T |
C |
10: 83,476,970 (GRCm39) |
|
probably null |
Het |
| Arhgef19 |
A |
T |
4: 140,976,313 (GRCm39) |
I385F |
possibly damaging |
Het |
| Cby3 |
A |
G |
11: 50,250,343 (GRCm39) |
D183G |
probably damaging |
Het |
| Ccdc134 |
G |
A |
15: 82,018,826 (GRCm39) |
V119M |
possibly damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,903,840 (GRCm39) |
|
probably benign |
Het |
| Clec2d |
T |
C |
6: 129,160,165 (GRCm39) |
S60P |
probably benign |
Het |
| Cts6 |
A |
T |
13: 61,350,064 (GRCm39) |
F6I |
probably damaging |
Het |
| Cyyr1 |
G |
A |
16: 85,262,449 (GRCm39) |
H103Y |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,371,668 (GRCm39) |
S120T |
possibly damaging |
Het |
| Dot1l |
T |
C |
10: 80,624,513 (GRCm39) |
S994P |
probably benign |
Het |
| Eya4 |
T |
G |
10: 23,198,971 (GRCm39) |
D3A |
probably benign |
Het |
| Fhip2b |
A |
G |
14: 70,823,649 (GRCm39) |
C574R |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gria1 |
A |
T |
11: 56,902,936 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
T |
C |
12: 51,815,957 (GRCm39) |
T1377A |
probably benign |
Het |
| Magi3 |
T |
G |
3: 103,923,202 (GRCm39) |
K1172Q |
possibly damaging |
Het |
| Map3k1 |
A |
C |
13: 111,892,059 (GRCm39) |
D1065E |
possibly damaging |
Het |
| Mindy4b-ps |
A |
T |
3: 58,717,158 (GRCm39) |
V242D |
probably damaging |
Het |
| Mrgpra3 |
T |
C |
7: 47,238,929 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
C |
A |
1: 162,866,766 (GRCm39) |
G657C |
probably damaging |
Het |
| Ogfod1 |
T |
C |
8: 94,784,395 (GRCm39) |
W318R |
probably damaging |
Het |
| Or10j5 |
A |
G |
1: 172,784,502 (GRCm39) |
T47A |
probably benign |
Het |
| Pacsin3 |
G |
A |
2: 91,090,837 (GRCm39) |
R48H |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,229,722 (GRCm39) |
E1114G |
probably damaging |
Het |
| Prkdc |
T |
G |
16: 15,617,848 (GRCm39) |
D3226E |
probably benign |
Het |
| Prl4a1 |
A |
T |
13: 28,204,246 (GRCm39) |
E96V |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,315,580 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
G |
A |
2: 66,530,291 (GRCm39) |
L685F |
possibly damaging |
Het |
| Spata1 |
A |
G |
3: 146,181,089 (GRCm39) |
Y290H |
possibly damaging |
Het |
| Tex10 |
T |
C |
4: 48,452,946 (GRCm39) |
D671G |
probably benign |
Het |
| Tifa |
T |
G |
3: 127,590,728 (GRCm39) |
Y166* |
probably null |
Het |
| Tnfsf10 |
G |
A |
3: 27,389,769 (GRCm39) |
D277N |
probably damaging |
Het |
| Tram1 |
A |
T |
1: 13,649,998 (GRCm39) |
Y75* |
probably null |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,368 (GRCm39) |
N244I |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,855,685 (GRCm39) |
I248T |
possibly damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,589,182 (GRCm39) |
|
probably benign |
Het |
| Zfp386 |
T |
A |
12: 116,022,760 (GRCm39) |
H124Q |
probably benign |
Het |
|
| Other mutations in Anks1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00471:Anks1
|
APN |
17 |
28,277,390 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00816:Anks1
|
APN |
17 |
28,278,367 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00940:Anks1
|
APN |
17 |
28,276,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01306:Anks1
|
APN |
17 |
28,205,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01485:Anks1
|
APN |
17 |
28,270,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02059:Anks1
|
APN |
17 |
28,227,020 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02220:Anks1
|
APN |
17 |
28,273,681 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02955:Anks1
|
APN |
17 |
28,273,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU23:Anks1
|
UTSW |
17 |
28,205,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1Funyon:Anks1
|
UTSW |
17 |
28,278,554 (GRCm39) |
intron |
probably benign |
|
|
R0389:Anks1
|
UTSW |
17 |
28,214,926 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1221:Anks1
|
UTSW |
17 |
28,269,616 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1523:Anks1
|
UTSW |
17 |
28,270,629 (GRCm39) |
splice site |
probably null |
|
|
R1639:Anks1
|
UTSW |
17 |
28,277,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1816:Anks1
|
UTSW |
17 |
28,205,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1981:Anks1
|
UTSW |
17 |
28,204,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1982:Anks1
|
UTSW |
17 |
28,204,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2041:Anks1
|
UTSW |
17 |
28,227,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2099:Anks1
|
UTSW |
17 |
28,197,465 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2897:Anks1
|
UTSW |
17 |
28,204,337 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2965:Anks1
|
UTSW |
17 |
28,272,879 (GRCm39) |
missense |
probably benign |
|
|
R3624:Anks1
|
UTSW |
17 |
28,205,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4671:Anks1
|
UTSW |
17 |
28,270,552 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4786:Anks1
|
UTSW |
17 |
28,271,704 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4871:Anks1
|
UTSW |
17 |
28,210,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4936:Anks1
|
UTSW |
17 |
28,207,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5175:Anks1
|
UTSW |
17 |
28,261,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5908:Anks1
|
UTSW |
17 |
28,214,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5975:Anks1
|
UTSW |
17 |
28,210,421 (GRCm39) |
splice site |
probably null |
|
|
R6226:Anks1
|
UTSW |
17 |
28,276,304 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6306:Anks1
|
UTSW |
17 |
28,269,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6332:Anks1
|
UTSW |
17 |
28,271,709 (GRCm39) |
missense |
probably benign |
|
|
R6891:Anks1
|
UTSW |
17 |
28,276,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Anks1
|
UTSW |
17 |
28,273,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7465:Anks1
|
UTSW |
17 |
28,273,297 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7502:Anks1
|
UTSW |
17 |
28,227,114 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7749:Anks1
|
UTSW |
17 |
28,257,115 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7943:Anks1
|
UTSW |
17 |
28,204,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8005:Anks1
|
UTSW |
17 |
28,278,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8190:Anks1
|
UTSW |
17 |
28,205,778 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8301:Anks1
|
UTSW |
17 |
28,278,554 (GRCm39) |
intron |
probably benign |
|
|
R8476:Anks1
|
UTSW |
17 |
28,273,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8754:Anks1
|
UTSW |
17 |
28,214,984 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9258:Anks1
|
UTSW |
17 |
28,277,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:Anks1
|
UTSW |
17 |
28,272,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9386:Anks1
|
UTSW |
17 |
28,272,880 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9547:Anks1
|
UTSW |
17 |
28,270,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9710:Anks1
|
UTSW |
17 |
28,128,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9801:Anks1
|
UTSW |
17 |
28,227,033 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Posted On |
2016-08-02 |
Incidental Mutation