Incidental Mutation 'I0000:Ankrd55'
| ID |
7842 |
| Institutional Source |
Beutler Lab
|
| 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 # |
I0000 (G3)
of strain
635
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
112424985-112520536 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 112485259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022275]
[ENSMUST00000056047]
[ENSMUST00000165593]
[ENSMUST00000168684]
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000225329
|
| Coding Region Coverage |
|
| Validation Efficiency |
67% (62/92) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,376,716 (GRCm39) |
V1933A |
probably damaging |
Het |
| Acsm4 |
T |
A |
7: 119,310,415 (GRCm39) |
F467I |
probably damaging |
Het |
| Bfsp1 |
T |
C |
2: 143,687,888 (GRCm39) |
Y179C |
probably damaging |
Het |
| Ccdc61 |
A |
G |
7: 18,637,474 (GRCm39) |
I51T |
probably damaging |
Het |
| Ccdc81 |
A |
G |
7: 89,547,259 (GRCm39) |
L43P |
probably damaging |
Het |
| Ddias |
A |
G |
7: 92,515,848 (GRCm39) |
V15A |
possibly damaging |
Het |
| Dpp6 |
A |
T |
5: 27,603,920 (GRCm39) |
T62S |
probably benign |
Het |
| Ereg |
G |
A |
5: 91,237,068 (GRCm39) |
C129Y |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,888,688 (GRCm39) |
G2745S |
probably damaging |
Het |
| Gzf1 |
C |
T |
2: 148,528,540 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,786,477 (GRCm39) |
|
probably benign |
Het |
| Hsd17b4 |
A |
G |
18: 50,293,295 (GRCm39) |
D278G |
probably benign |
Homo |
| Ifitm3 |
A |
G |
7: 140,590,441 (GRCm39) |
S40P |
possibly damaging |
Het |
| Klf5 |
C |
T |
14: 99,540,911 (GRCm39) |
T307M |
probably damaging |
Homo |
| Lnpep |
A |
T |
17: 17,799,233 (GRCm39) |
C141S |
probably damaging |
Homo |
| Mmp19 |
A |
T |
10: 128,634,329 (GRCm39) |
D362V |
probably benign |
Het |
| Or4a72 |
T |
C |
2: 89,405,497 (GRCm39) |
Y191C |
probably damaging |
Het |
| Pnpla6 |
G |
A |
8: 3,592,322 (GRCm39) |
A1222T |
probably benign |
Het |
| Rbm26 |
C |
A |
14: 105,391,003 (GRCm39) |
R161L |
unknown |
Homo |
| Selenon |
G |
A |
4: 134,270,012 (GRCm39) |
|
probably benign |
Het |
| Septin11 |
A |
G |
5: 93,313,118 (GRCm39) |
T322A |
probably benign |
Het |
| Sh3bp4 |
T |
A |
1: 89,065,518 (GRCm39) |
D37E |
probably benign |
Het |
| Tango2 |
G |
A |
16: 18,130,530 (GRCm39) |
R80W |
possibly damaging |
Homo |
| Tjap1 |
C |
T |
17: 46,569,955 (GRCm39) |
C345Y |
probably damaging |
Homo |
| Wdr62 |
T |
C |
7: 29,944,752 (GRCm39) |
D455G |
probably benign |
Het |
| Zbtb48 |
A |
G |
4: 152,104,315 (GRCm39) |
I671T |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,710,485 (GRCm39) |
L736P |
probably damaging |
Homo |
|
| 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 |
|
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 |
|
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 |
2012-11-05 |
Incidental Mutation