Incidental Mutation 'IGL03368:Ankrd55'
| ID |
420197 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankrd55
|
| Ensembl Gene |
ENSMUSG00000049985 |
| Gene Name |
ankyrin repeat domain 55 |
| Synonyms |
C030011J08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03368
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
112424985-112520536 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 112455090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022275]
[ENSMUST00000056047]
[ENSMUST00000165593]
[ENSMUST00000168684]
[ENSMUST00000223871]
|
| AlphaFold |
Q8BLD6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022275
|
| SMART Domains |
Protein: ENSMUSP00000022275
Gene: ENSMUSG00000049985
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
25 |
54 |
1e-9 |
BLAST |
|
ANK
|
59 |
88 |
7.64e-6 |
SMART |
|
ANK
|
92 |
121 |
4.18e2 |
SMART |
|
ANK
|
125 |
156 |
4.86e1 |
SMART |
|
ANK
|
160 |
189 |
5.32e-5 |
SMART |
|
ANK
|
193 |
222 |
7.59e-1 |
SMART |
|
ANK
|
229 |
257 |
2.97e2 |
SMART |
|
ANK
|
263 |
292 |
5.71e-5 |
SMART |
|
ANK
|
296 |
326 |
1.63e0 |
SMART |
|
low complexity region
|
528 |
543 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056047
|
| SMART Domains |
Protein: ENSMUSP00000058891
Gene: ENSMUSG00000049985
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
25 |
54 |
6e-10 |
BLAST |
|
ANK
|
59 |
88 |
7.64e-6 |
SMART |
|
ANK
|
92 |
121 |
4.18e2 |
SMART |
|
ANK
|
125 |
156 |
4.86e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165593
|
| SMART Domains |
Protein: ENSMUSP00000126199
Gene: ENSMUSG00000049985
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
1 |
26 |
8e-8 |
BLAST |
|
ANK
|
31 |
60 |
7.64e-6 |
SMART |
|
ANK
|
64 |
93 |
4.18e2 |
SMART |
|
ANK
|
97 |
128 |
4.86e1 |
SMART |
|
ANK
|
132 |
161 |
5.32e-5 |
SMART |
|
ANK
|
165 |
194 |
7.59e-1 |
SMART |
|
ANK
|
201 |
229 |
2.97e2 |
SMART |
|
ANK
|
235 |
264 |
5.71e-5 |
SMART |
|
ANK
|
268 |
298 |
1.63e0 |
SMART |
|
low complexity region
|
500 |
515 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168684
|
| SMART Domains |
Protein: ENSMUSP00000129726
Gene: ENSMUSG00000049985
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
25 |
54 |
9e-10 |
BLAST |
|
ANK
|
59 |
88 |
7.64e-6 |
SMART |
|
ANK
|
92 |
121 |
4.18e2 |
SMART |
|
ANK
|
125 |
156 |
4.86e1 |
SMART |
|
ANK
|
160 |
189 |
5.32e-5 |
SMART |
|
ANK
|
193 |
222 |
7.59e-1 |
SMART |
|
ANK
|
229 |
257 |
2.97e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223871
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225329
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530053G22Rik |
T |
C |
6: 60,380,530 (GRCm39) |
|
noncoding transcript |
Het |
| Abca5 |
A |
G |
11: 110,204,348 (GRCm39) |
|
probably benign |
Het |
| Agxt2 |
T |
A |
15: 10,388,256 (GRCm39) |
C278* |
probably null |
Het |
| Ankar |
A |
G |
1: 72,714,972 (GRCm39) |
L384P |
probably damaging |
Het |
| Ap5m1 |
A |
G |
14: 49,318,593 (GRCm39) |
|
probably benign |
Het |
| Arhgap18 |
C |
T |
10: 26,648,689 (GRCm39) |
S37F |
possibly damaging |
Het |
| Btnl10 |
G |
A |
11: 58,810,212 (GRCm39) |
V118I |
possibly damaging |
Het |
| Chst11 |
C |
A |
10: 82,927,980 (GRCm39) |
P66T |
probably benign |
Het |
| Cited2 |
C |
A |
10: 17,599,944 (GRCm39) |
P84Q |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,251,857 (GRCm39) |
V1914A |
probably benign |
Het |
| Dpy19l4 |
T |
A |
4: 11,290,253 (GRCm39) |
I302F |
possibly damaging |
Het |
| Ece2 |
A |
G |
16: 20,462,908 (GRCm39) |
E640G |
possibly damaging |
Het |
| Fam184b |
T |
C |
5: 45,689,166 (GRCm39) |
D890G |
possibly damaging |
Het |
| Fam227b |
A |
T |
2: 125,960,983 (GRCm39) |
D215E |
probably damaging |
Het |
| Foxp2 |
A |
G |
6: 15,394,717 (GRCm39) |
K139R |
probably damaging |
Het |
| Gle1 |
T |
C |
2: 29,833,805 (GRCm39) |
C401R |
probably damaging |
Het |
| Gp2 |
A |
T |
7: 119,052,097 (GRCm39) |
C206S |
probably damaging |
Het |
| Hdgfl2 |
G |
T |
17: 56,386,746 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,539,623 (GRCm39) |
N2956S |
probably damaging |
Het |
| Ifi209 |
A |
G |
1: 173,470,057 (GRCm39) |
Q215R |
possibly damaging |
Het |
| Il20rb |
C |
T |
9: 100,341,174 (GRCm39) |
|
probably benign |
Het |
| Katnip |
T |
C |
7: 125,468,030 (GRCm39) |
|
probably benign |
Het |
| Kif26b |
A |
C |
1: 178,743,773 (GRCm39) |
S1290R |
probably damaging |
Het |
| Mical1 |
A |
G |
10: 41,355,625 (GRCm39) |
I156M |
probably damaging |
Het |
| Nbas |
C |
T |
12: 13,378,452 (GRCm39) |
A613V |
probably benign |
Het |
| Nbea |
C |
T |
3: 55,987,351 (GRCm39) |
V380M |
probably damaging |
Het |
| Nutf2 |
T |
C |
8: 106,602,232 (GRCm39) |
F14S |
probably damaging |
Het |
| Or4c35 |
A |
T |
2: 89,808,133 (GRCm39) |
I4L |
probably benign |
Het |
| Or52r1b |
T |
A |
7: 102,690,972 (GRCm39) |
H95Q |
possibly damaging |
Het |
| Parp1 |
A |
G |
1: 180,408,187 (GRCm39) |
E236G |
probably benign |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Ptcd2 |
T |
A |
13: 99,466,577 (GRCm39) |
|
probably benign |
Het |
| Pygl |
T |
C |
12: 70,237,926 (GRCm39) |
Q704R |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,563,311 (GRCm39) |
S492T |
possibly damaging |
Het |
| Sephs1 |
G |
A |
2: 4,894,080 (GRCm39) |
D94N |
possibly damaging |
Het |
| Slc22a29 |
A |
C |
19: 8,184,626 (GRCm39) |
|
probably null |
Het |
| Slc22a8 |
G |
T |
19: 8,586,483 (GRCm39) |
|
probably benign |
Het |
| Slfn5 |
A |
G |
11: 82,847,211 (GRCm39) |
D32G |
possibly damaging |
Het |
| Sphkap |
T |
A |
1: 83,253,397 (GRCm39) |
T1451S |
probably benign |
Het |
| Srp54a |
A |
C |
12: 55,138,051 (GRCm39) |
E63A |
probably null |
Het |
| Stap1 |
T |
A |
5: 86,238,827 (GRCm39) |
I165N |
probably damaging |
Het |
| Terf2 |
T |
C |
8: 107,797,181 (GRCm39) |
E494G |
probably damaging |
Het |
| Trak1 |
C |
A |
9: 121,196,188 (GRCm39) |
L7I |
possibly damaging |
Het |
| Twnk |
T |
C |
19: 44,998,931 (GRCm39) |
V557A |
probably damaging |
Het |
| U2af2 |
T |
A |
7: 5,070,263 (GRCm39) |
|
probably benign |
Het |
| Ube2j1 |
T |
A |
4: 33,038,317 (GRCm39) |
I75N |
probably damaging |
Het |
| Ubr5 |
A |
G |
15: 37,998,560 (GRCm39) |
V1643A |
probably damaging |
Het |
| Vsx2 |
A |
G |
12: 84,617,074 (GRCm39) |
T120A |
probably benign |
Het |
|
| Other mutations in Ankrd55 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Ankrd55
|
APN |
13 |
112,504,328 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01372:Ankrd55
|
APN |
13 |
112,459,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01554:Ankrd55
|
APN |
13 |
112,459,601 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01700:Ankrd55
|
APN |
13 |
112,517,702 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02366:Ankrd55
|
APN |
13 |
112,454,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
crescat
|
UTSW |
13 |
112,485,397 (GRCm39) |
critical splice donor site |
probably null |
|
|
Scientiam
|
UTSW |
13 |
112,492,497 (GRCm39) |
missense |
probably damaging |
0.99 |
|
I0000:Ankrd55
|
UTSW |
13 |
112,485,259 (GRCm39) |
splice site |
probably benign |
|
|
R0547:Ankrd55
|
UTSW |
13 |
112,504,757 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0781:Ankrd55
|
UTSW |
13 |
112,517,767 (GRCm39) |
splice site |
probably benign |
|
|
R0981:Ankrd55
|
UTSW |
13 |
112,459,610 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1072:Ankrd55
|
UTSW |
13 |
112,485,376 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1469:Ankrd55
|
UTSW |
13 |
112,504,460 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1469:Ankrd55
|
UTSW |
13 |
112,504,460 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2187:Ankrd55
|
UTSW |
13 |
112,520,039 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4430:Ankrd55
|
UTSW |
13 |
112,459,717 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4753:Ankrd55
|
UTSW |
13 |
112,500,009 (GRCm39) |
missense |
probably benign |
|
|
R4846:Ankrd55
|
UTSW |
13 |
112,499,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4911:Ankrd55
|
UTSW |
13 |
112,459,573 (GRCm39) |
splice site |
probably null |
|
|
R4996:Ankrd55
|
UTSW |
13 |
112,492,622 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5007:Ankrd55
|
UTSW |
13 |
112,504,466 (GRCm39) |
missense |
probably benign |
|
|
R5077:Ankrd55
|
UTSW |
13 |
112,492,522 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5118:Ankrd55
|
UTSW |
13 |
112,492,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5350:Ankrd55
|
UTSW |
13 |
112,472,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5367:Ankrd55
|
UTSW |
13 |
112,455,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5560:Ankrd55
|
UTSW |
13 |
112,520,024 (GRCm39) |
missense |
probably benign |
|
|
R5888:Ankrd55
|
UTSW |
13 |
112,492,453 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6130:Ankrd55
|
UTSW |
13 |
112,454,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6589:Ankrd55
|
UTSW |
13 |
112,485,397 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6994:Ankrd55
|
UTSW |
13 |
112,504,834 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7100:Ankrd55
|
UTSW |
13 |
112,492,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7247:Ankrd55
|
UTSW |
13 |
112,472,787 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7340:Ankrd55
|
UTSW |
13 |
112,492,497 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7694:Ankrd55
|
UTSW |
13 |
112,504,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8053:Ankrd55
|
UTSW |
13 |
112,459,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8282:Ankrd55
|
UTSW |
13 |
112,459,575 (GRCm39) |
splice site |
probably benign |
|
|
R8529:Ankrd55
|
UTSW |
13 |
112,480,670 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9059:Ankrd55
|
UTSW |
13 |
112,455,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9176:Ankrd55
|
UTSW |
13 |
112,459,610 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9189:Ankrd55
|
UTSW |
13 |
112,504,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9332:Ankrd55
|
UTSW |
13 |
112,459,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9557:Ankrd55
|
UTSW |
13 |
112,485,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation