Incidental Mutation 'IGL01700:Ankrd55'
| ID |
104421 |
| 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 # |
IGL01700
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
112424985-112520536 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112517702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 556
(I556T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022275]
[ENSMUST00000165593]
|
| AlphaFold |
Q8BLD6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022275
AA Change: I556T
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022275
Gene: ENSMUSG00000049985
AA Change: I556T
| 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: ENSMUST00000165593
AA Change: I528T
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000126199
Gene: ENSMUSG00000049985
AA Change: I528T
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,319,549 (GRCm39) |
M1778L |
probably benign |
Het |
| Aldh6a1 |
C |
T |
12: 84,486,312 (GRCm39) |
C202Y |
probably damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,582,198 (GRCm39) |
T276A |
probably benign |
Het |
| Aqp4 |
A |
G |
18: 15,532,922 (GRCm39) |
I57T |
probably benign |
Het |
| Atp1a1 |
T |
C |
3: 101,501,574 (GRCm39) |
D43G |
possibly damaging |
Het |
| Cyld |
G |
A |
8: 89,433,727 (GRCm39) |
R172H |
probably damaging |
Het |
| Ear2 |
A |
T |
14: 44,340,716 (GRCm39) |
R125* |
probably null |
Het |
| Efcab9 |
T |
C |
11: 32,477,451 (GRCm39) |
R24G |
probably damaging |
Het |
| F7 |
C |
A |
8: 13,078,685 (GRCm39) |
Q39K |
probably benign |
Het |
| Galntl6 |
A |
T |
8: 58,411,494 (GRCm39) |
|
probably benign |
Het |
| Kcnj5 |
A |
G |
9: 32,233,925 (GRCm39) |
V130A |
probably damaging |
Het |
| Magee2 |
A |
G |
X: 103,899,574 (GRCm39) |
I359T |
possibly damaging |
Het |
| Myh1 |
T |
G |
11: 67,102,238 (GRCm39) |
I843S |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,065,762 (GRCm39) |
M98K |
probably damaging |
Het |
| Nrip3 |
T |
A |
7: 109,361,074 (GRCm39) |
N200I |
possibly damaging |
Het |
| Or6c219 |
A |
T |
10: 129,781,810 (GRCm39) |
N40K |
probably damaging |
Het |
| Phkb |
A |
T |
8: 86,744,094 (GRCm39) |
Q581L |
probably benign |
Het |
| Plxdc2 |
T |
C |
2: 16,516,926 (GRCm39) |
V69A |
probably benign |
Het |
| Pou3f1 |
G |
T |
4: 124,552,650 (GRCm39) |
W384L |
probably damaging |
Het |
| Prrc2a |
G |
A |
17: 35,369,643 (GRCm39) |
S1890L |
possibly damaging |
Het |
| Psmc1 |
C |
A |
12: 100,079,337 (GRCm39) |
P27H |
probably damaging |
Het |
| Pvr |
C |
A |
7: 19,643,157 (GRCm39) |
A359S |
probably benign |
Het |
| Rasal1 |
A |
T |
5: 120,814,882 (GRCm39) |
I711F |
probably benign |
Het |
| Ror1 |
C |
T |
4: 100,266,968 (GRCm39) |
A223V |
probably damaging |
Het |
| Slc22a16 |
A |
T |
10: 40,479,904 (GRCm39) |
I638L |
unknown |
Het |
| Slfn10-ps |
C |
T |
11: 82,919,938 (GRCm39) |
|
noncoding transcript |
Het |
| Sptbn4 |
A |
G |
7: 27,103,693 (GRCm39) |
L1176P |
probably damaging |
Het |
| Usp21 |
A |
T |
1: 171,110,975 (GRCm39) |
F421I |
probably damaging |
Het |
| Utp25 |
G |
A |
1: 192,800,573 (GRCm39) |
P416S |
probably damaging |
Het |
| Vmn1r61 |
T |
A |
7: 5,614,202 (GRCm39) |
R37S |
possibly damaging |
Het |
| Vps13a |
G |
A |
19: 16,722,221 (GRCm39) |
R364* |
probably null |
Het |
| Vps29 |
A |
G |
5: 122,500,930 (GRCm39) |
Y165C |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,742,195 (GRCm39) |
|
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,044,802 (GRCm39) |
D219G |
probably damaging |
Het |
| Xpo1 |
T |
C |
11: 23,226,422 (GRCm39) |
|
probably benign |
Het |
| Zfp831 |
C |
A |
2: 174,486,711 (GRCm39) |
T462K |
possibly damaging |
Het |
| Zswim5 |
T |
C |
4: 116,843,658 (GRCm39) |
|
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 |
|
IGL02366:Ankrd55
|
APN |
13 |
112,454,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03368:Ankrd55
|
APN |
13 |
112,455,090 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2014-01-21 |
Incidental Mutation