Incidental Mutation 'R4430:Ankrd55'
ID |
328579 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd55
|
Ensembl Gene |
ENSMUSG00000049985 |
Gene Name |
ankyrin repeat domain 55 |
Synonyms |
C030011J08Rik |
MMRRC Submission |
041700-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4430 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
112424985-112520536 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 112459717 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 null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000223871
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225329
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
Aak1 |
A |
G |
6: 86,963,348 (GRCm39) |
N926S |
unknown |
Het |
Ahi1 |
T |
A |
10: 20,847,977 (GRCm39) |
C462S |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,980,404 (GRCm39) |
I563V |
probably benign |
Het |
Bag3 |
A |
G |
7: 128,125,647 (GRCm39) |
D22G |
probably damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Col15a1 |
T |
C |
4: 47,245,705 (GRCm39) |
F152S |
probably damaging |
Het |
Cxcr2 |
T |
C |
1: 74,198,004 (GRCm39) |
I166T |
probably benign |
Het |
Dnah11 |
T |
C |
12: 117,946,746 (GRCm39) |
I3113V |
probably benign |
Het |
Gli2 |
T |
C |
1: 118,764,974 (GRCm39) |
H1059R |
probably benign |
Het |
Gm14412 |
C |
A |
2: 177,007,625 (GRCm39) |
S90I |
probably benign |
Het |
L1td1 |
A |
G |
4: 98,625,388 (GRCm39) |
R528G |
probably benign |
Het |
Mcm3 |
A |
T |
1: 20,882,217 (GRCm39) |
L449* |
probably null |
Het |
Mif4gd |
T |
C |
11: 115,499,328 (GRCm39) |
T185A |
probably benign |
Het |
Mphosph9 |
T |
C |
5: 124,403,509 (GRCm39) |
S840G |
possibly damaging |
Het |
Nherf4 |
C |
T |
9: 44,161,041 (GRCm39) |
S175N |
probably benign |
Het |
Nim1k |
C |
A |
13: 120,174,078 (GRCm39) |
R272L |
possibly damaging |
Het |
Or5b104 |
C |
T |
19: 13,072,452 (GRCm39) |
V187I |
probably benign |
Het |
Or6c213 |
T |
A |
10: 129,574,130 (GRCm39) |
I219F |
probably damaging |
Het |
Or8k32 |
A |
G |
2: 86,368,731 (GRCm39) |
I176T |
probably damaging |
Het |
Pax3 |
A |
G |
1: 78,171,961 (GRCm39) |
V83A |
probably damaging |
Het |
Pde3b |
C |
T |
7: 114,133,905 (GRCm39) |
P974S |
probably damaging |
Het |
Pglyrp3 |
T |
A |
3: 91,938,798 (GRCm39) |
D324E |
probably damaging |
Het |
Pus7 |
A |
G |
5: 23,951,487 (GRCm39) |
Y521H |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,750,413 (GRCm39) |
S1953P |
probably damaging |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
Sox5 |
A |
G |
6: 143,987,000 (GRCm39) |
I188T |
possibly damaging |
Het |
Spata4 |
T |
C |
8: 55,054,878 (GRCm39) |
I86T |
probably benign |
Het |
Ssc5d |
T |
C |
7: 4,946,663 (GRCm39) |
S1006P |
probably benign |
Het |
Stk10 |
T |
C |
11: 32,483,552 (GRCm39) |
V50A |
possibly damaging |
Het |
Sytl4 |
A |
G,T |
X: 132,849,972 (GRCm39) |
S338R |
probably damaging |
Homo |
Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmem201 |
A |
C |
4: 149,815,596 (GRCm39) |
V118G |
probably benign |
Het |
Tmem67 |
T |
A |
4: 12,051,473 (GRCm39) |
N785I |
possibly damaging |
Het |
Trhde |
A |
T |
10: 114,339,028 (GRCm39) |
L594Q |
probably damaging |
Het |
Ugt2b37 |
T |
C |
5: 87,401,951 (GRCm39) |
M227V |
probably benign |
Het |
Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,519,449 (GRCm39) |
M503K |
probably benign |
Het |
Zfp54 |
T |
G |
17: 21,655,222 (GRCm39) |
V572G |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCAACGGTTTGCTCATAAATC -3'
(R):5'- TTACAGAGTGAGTTCCAGGGC -3'
Sequencing Primer
(F):5'- GGTTTGCTCATAAATCCCAAAAGC -3'
(R):5'- TGAGTTCCAGGGCAGCCAG -3'
|
Posted On |
2015-07-21 |