Incidental Mutation 'R4846:Ankrd55'
| ID |
372188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd55
|
| Ensembl Gene |
ENSMUSG00000049985 |
| Gene Name |
ankyrin repeat domain 55 |
| Synonyms |
C030011J08Rik |
| MMRRC Submission |
042459-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4846 (G1)
|
| Quality Score |
181 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
112424985-112520536 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 112499988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 278
(E278D)
|
| 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: E278D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022275
Gene: ENSMUSG00000049985
AA Change: E278D
| 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: E250D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126199
Gene: ENSMUSG00000049985
AA Change: E250D
| 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 |
noncoding transcript
Transcript: ENSMUST00000224393
|
| Meta Mutation Damage Score |
0.0893 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
T |
A |
14: 70,393,392 (GRCm39) |
H299L |
probably damaging |
Het |
| Abcb4 |
C |
T |
5: 8,985,180 (GRCm39) |
A687V |
probably benign |
Het |
| Abtb3 |
A |
G |
10: 85,465,130 (GRCm39) |
T657A |
probably damaging |
Het |
| Adam20 |
A |
G |
8: 41,248,048 (GRCm39) |
T53A |
probably benign |
Het |
| Afg1l |
G |
A |
10: 42,330,490 (GRCm39) |
T59I |
probably benign |
Het |
| AI837181 |
A |
G |
19: 5,476,329 (GRCm39) |
Q164R |
probably benign |
Het |
| Anapc15 |
T |
A |
7: 101,546,974 (GRCm39) |
I12N |
probably benign |
Het |
| Axin2 |
A |
G |
11: 108,833,125 (GRCm39) |
T437A |
probably benign |
Het |
| BC051665 |
T |
C |
13: 60,931,895 (GRCm39) |
D168G |
probably damaging |
Het |
| Cd200 |
C |
T |
16: 45,212,664 (GRCm39) |
R261H |
probably benign |
Het |
| Clk1 |
G |
A |
1: 58,460,261 (GRCm39) |
S123L |
probably benign |
Het |
| Csrnp2 |
A |
T |
15: 100,382,571 (GRCm39) |
D156E |
probably damaging |
Het |
| Ctss |
C |
T |
3: 95,452,695 (GRCm39) |
Q159* |
probably null |
Het |
| Dennd2b |
C |
A |
7: 109,156,043 (GRCm39) |
E236* |
probably null |
Het |
| Dip2a |
A |
G |
10: 76,157,327 (GRCm39) |
S93P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Ephb6 |
G |
A |
6: 41,593,743 (GRCm39) |
R542Q |
probably benign |
Het |
| Fmo3 |
T |
C |
1: 162,781,880 (GRCm39) |
D491G |
possibly damaging |
Het |
| Galnt14 |
A |
T |
17: 73,843,888 (GRCm39) |
M140K |
probably benign |
Het |
| Ghsr |
T |
C |
3: 27,425,986 (GRCm39) |
V14A |
probably benign |
Het |
| Gm17546 |
C |
A |
15: 95,727,843 (GRCm39) |
|
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hc |
A |
G |
2: 34,909,682 (GRCm39) |
V866A |
probably benign |
Het |
| Hoxb6 |
G |
A |
11: 96,190,348 (GRCm39) |
G116R |
probably damaging |
Het |
| Hykk |
A |
G |
9: 54,827,890 (GRCm39) |
Y43C |
probably damaging |
Het |
| Jade2 |
T |
C |
11: 51,711,975 (GRCm39) |
T495A |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,233,798 (GRCm39) |
V755E |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,309,457 (GRCm39) |
D2814V |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,147,009 (GRCm39) |
N406K |
probably damaging |
Het |
| Met |
A |
T |
6: 17,491,928 (GRCm39) |
D230V |
probably damaging |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,584 (GRCm39) |
V78D |
probably damaging |
Het |
| Mrpl20 |
A |
G |
4: 155,892,993 (GRCm39) |
T112A |
possibly damaging |
Het |
| Nek11 |
T |
A |
9: 105,040,362 (GRCm39) |
E566D |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,005,923 (GRCm39) |
S235P |
probably damaging |
Het |
| Npas4 |
C |
A |
19: 5,036,805 (GRCm39) |
S453I |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Psg18 |
A |
T |
7: 18,084,711 (GRCm39) |
Y128* |
probably null |
Het |
| Ptges3l |
A |
T |
11: 101,310,010 (GRCm39) |
|
probably benign |
Het |
| Pus1 |
T |
C |
5: 110,927,796 (GRCm39) |
|
probably benign |
Het |
| Raf1 |
T |
A |
6: 115,621,544 (GRCm39) |
S12C |
possibly damaging |
Het |
| Rps6-ps2 |
T |
G |
8: 89,533,206 (GRCm39) |
|
noncoding transcript |
Het |
| Slc5a4b |
A |
G |
10: 75,898,073 (GRCm39) |
L547P |
probably damaging |
Het |
| Socs3 |
A |
G |
11: 117,858,654 (GRCm39) |
S135P |
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,890,047 (GRCm39) |
D591G |
probably benign |
Het |
| Stra6l |
G |
A |
4: 45,873,682 (GRCm39) |
V281M |
possibly damaging |
Het |
| Suco |
G |
A |
1: 161,661,977 (GRCm39) |
T818I |
possibly damaging |
Het |
| Syde1 |
A |
T |
10: 78,424,731 (GRCm39) |
V367D |
probably damaging |
Het |
| Tet3 |
A |
T |
6: 83,353,865 (GRCm39) |
L932* |
probably null |
Het |
| Trpm7 |
G |
A |
2: 126,655,105 (GRCm39) |
L1278F |
possibly damaging |
Het |
| Vmn1r168 |
A |
T |
7: 23,240,490 (GRCm39) |
T116S |
probably damaging |
Het |
| Wfdc6b |
A |
G |
2: 164,459,214 (GRCm39) |
Q92R |
possibly 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 |
|
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 |
|
|
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'- ATGCTGGGTCCATGTGCC -3'
(R):5'- GTATGCTAGATGACAGCAAGTGTAC -3'
Sequencing Primer
(F):5'- CCTGTTTCACACTGTGGATCTAAGG -3'
(R):5'- GCTTTGGAACTCACACTGAAAG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation