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 |
112288451-112384002 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 112363454 bp (GRCm38)
|
| 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: 70,155,943 (GRCm38) |
H299L |
probably damaging |
Het |
| Abcb4 |
C |
T |
5: 8,935,180 (GRCm38) |
A687V |
probably benign |
Het |
| Abtb3 |
A |
G |
10: 85,629,266 (GRCm38) |
T657A |
probably damaging |
Het |
| Adam20 |
A |
G |
8: 40,795,011 (GRCm38) |
T53A |
probably benign |
Het |
| Afg1l |
G |
A |
10: 42,454,494 (GRCm38) |
T59I |
probably benign |
Het |
| AI837181 |
A |
G |
19: 5,426,301 (GRCm38) |
Q164R |
probably benign |
Het |
| Anapc15 |
T |
A |
7: 101,897,767 (GRCm38) |
I12N |
probably benign |
Het |
| Axin2 |
A |
G |
11: 108,942,299 (GRCm38) |
T437A |
probably benign |
Het |
| BC051665 |
T |
C |
13: 60,784,081 (GRCm38) |
D168G |
probably damaging |
Het |
| Cd200 |
C |
T |
16: 45,392,301 (GRCm38) |
R261H |
probably benign |
Het |
| Clk1 |
G |
A |
1: 58,421,102 (GRCm38) |
S123L |
probably benign |
Het |
| Csrnp2 |
A |
T |
15: 100,484,690 (GRCm38) |
D156E |
probably damaging |
Het |
| Ctss |
C |
T |
3: 95,545,384 (GRCm38) |
Q159* |
probably null |
Het |
| Dip2a |
A |
G |
10: 76,321,493 (GRCm38) |
S93P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 74,277,038 (GRCm38) |
|
probably null |
Het |
| Dync1h1 |
C |
A |
12: 110,658,126 (GRCm38) |
T3700N |
probably damaging |
Het |
| Ephb6 |
G |
A |
6: 41,616,809 (GRCm38) |
R542Q |
probably benign |
Het |
| Fmo3 |
T |
C |
1: 162,954,311 (GRCm38) |
D491G |
possibly damaging |
Het |
| Galnt14 |
A |
T |
17: 73,536,893 (GRCm38) |
M140K |
probably benign |
Het |
| Ghsr |
T |
C |
3: 27,371,837 (GRCm38) |
V14A |
probably benign |
Het |
| Gm17546 |
C |
A |
15: 95,829,962 (GRCm38) |
|
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,864,267 (GRCm38) |
V257L |
possibly damaging |
Het |
| Hc |
A |
G |
2: 35,019,670 (GRCm38) |
V866A |
probably benign |
Het |
| Hoxb6 |
G |
A |
11: 96,299,522 (GRCm38) |
G116R |
probably damaging |
Het |
| Hykk |
A |
G |
9: 54,920,606 (GRCm38) |
Y43C |
probably damaging |
Het |
| Jade2 |
T |
C |
11: 51,821,148 (GRCm38) |
T495A |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,342,972 (GRCm38) |
V755E |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,479,113 (GRCm38) |
D2814V |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,256,997 (GRCm38) |
N406K |
probably damaging |
Het |
| Met |
A |
T |
6: 17,491,929 (GRCm38) |
D230V |
probably damaging |
Het |
| Mrgprx2 |
A |
T |
7: 48,482,836 (GRCm38) |
V78D |
probably damaging |
Het |
| Mrpl20 |
A |
G |
4: 155,808,536 (GRCm38) |
T112A |
possibly damaging |
Het |
| Nek11 |
T |
A |
9: 105,163,163 (GRCm38) |
E566D |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,175,579 (GRCm38) |
S235P |
probably damaging |
Het |
| Npas4 |
C |
A |
19: 4,986,777 (GRCm38) |
S453I |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,862,403 (GRCm38) |
S113L |
probably damaging |
Het |
| Psg18 |
A |
T |
7: 18,350,786 (GRCm38) |
Y128* |
probably null |
Het |
| Ptges3l |
A |
T |
11: 101,419,184 (GRCm38) |
|
probably benign |
Het |
| Pus1 |
T |
C |
5: 110,779,930 (GRCm38) |
|
probably benign |
Het |
| Raf1 |
T |
A |
6: 115,644,583 (GRCm38) |
S12C |
possibly damaging |
Het |
| Rps6-ps2 |
T |
G |
8: 88,806,578 (GRCm38) |
|
noncoding transcript |
Het |
| Slc5a4b |
A |
G |
10: 76,062,239 (GRCm38) |
L547P |
probably damaging |
Het |
| Socs3 |
A |
G |
11: 117,967,828 (GRCm38) |
S135P |
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,742,233 (GRCm38) |
D591G |
probably benign |
Het |
| St5 |
C |
A |
7: 109,556,836 (GRCm38) |
E236* |
probably null |
Het |
| Stra6l |
G |
A |
4: 45,873,682 (GRCm38) |
V281M |
possibly damaging |
Het |
| Suco |
G |
A |
1: 161,834,408 (GRCm38) |
T818I |
possibly damaging |
Het |
| Syde1 |
A |
T |
10: 78,588,897 (GRCm38) |
V367D |
probably damaging |
Het |
| Tet3 |
A |
T |
6: 83,376,883 (GRCm38) |
L932* |
probably null |
Het |
| Trpm7 |
G |
A |
2: 126,813,185 (GRCm38) |
L1278F |
possibly damaging |
Het |
| Vmn1r168 |
A |
T |
7: 23,541,065 (GRCm38) |
T116S |
probably damaging |
Het |
| Wfdc6b |
A |
G |
2: 164,617,294 (GRCm38) |
Q92R |
possibly damaging |
Het |
|
| Other mutations in Ankrd55 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Ankrd55
|
APN |
13 |
112,367,794 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01372:Ankrd55
|
APN |
13 |
112,323,143 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01554:Ankrd55
|
APN |
13 |
112,323,067 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL01700:Ankrd55
|
APN |
13 |
112,381,168 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL02366:Ankrd55
|
APN |
13 |
112,318,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03368:Ankrd55
|
APN |
13 |
112,318,556 (GRCm38) |
splice site |
probably benign |
|
|
crescat
|
UTSW |
13 |
112,348,863 (GRCm38) |
critical splice donor site |
probably null |
|
|
Scientiam
|
UTSW |
13 |
112,355,963 (GRCm38) |
missense |
probably damaging |
0.99 |
|
I0000:Ankrd55
|
UTSW |
13 |
112,348,725 (GRCm38) |
splice site |
probably benign |
|
|
R0547:Ankrd55
|
UTSW |
13 |
112,368,223 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0781:Ankrd55
|
UTSW |
13 |
112,381,233 (GRCm38) |
splice site |
probably benign |
|
|
R0981:Ankrd55
|
UTSW |
13 |
112,323,076 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R1072:Ankrd55
|
UTSW |
13 |
112,348,842 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1469:Ankrd55
|
UTSW |
13 |
112,367,926 (GRCm38) |
missense |
probably benign |
0.39 |
|
R1469:Ankrd55
|
UTSW |
13 |
112,367,926 (GRCm38) |
missense |
probably benign |
0.39 |
|
R2187:Ankrd55
|
UTSW |
13 |
112,383,505 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4430:Ankrd55
|
UTSW |
13 |
112,323,183 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4753:Ankrd55
|
UTSW |
13 |
112,363,475 (GRCm38) |
missense |
probably benign |
|
|
R4911:Ankrd55
|
UTSW |
13 |
112,323,039 (GRCm38) |
splice site |
probably null |
|
|
R4996:Ankrd55
|
UTSW |
13 |
112,356,088 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5007:Ankrd55
|
UTSW |
13 |
112,367,932 (GRCm38) |
missense |
probably benign |
|
|
R5077:Ankrd55
|
UTSW |
13 |
112,355,988 (GRCm38) |
missense |
probably benign |
0.19 |
|
R5118:Ankrd55
|
UTSW |
13 |
112,355,939 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5350:Ankrd55
|
UTSW |
13 |
112,336,226 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5367:Ankrd55
|
UTSW |
13 |
112,318,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5560:Ankrd55
|
UTSW |
13 |
112,383,490 (GRCm38) |
missense |
probably benign |
|
|
R5888:Ankrd55
|
UTSW |
13 |
112,355,919 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R6130:Ankrd55
|
UTSW |
13 |
112,318,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6589:Ankrd55
|
UTSW |
13 |
112,348,863 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6994:Ankrd55
|
UTSW |
13 |
112,368,300 (GRCm38) |
missense |
probably benign |
0.42 |
|
R7100:Ankrd55
|
UTSW |
13 |
112,356,110 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7247:Ankrd55
|
UTSW |
13 |
112,336,253 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7340:Ankrd55
|
UTSW |
13 |
112,355,963 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7694:Ankrd55
|
UTSW |
13 |
112,367,964 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8053:Ankrd55
|
UTSW |
13 |
112,323,153 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8282:Ankrd55
|
UTSW |
13 |
112,323,041 (GRCm38) |
splice site |
probably benign |
|
|
R8529:Ankrd55
|
UTSW |
13 |
112,344,136 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9059:Ankrd55
|
UTSW |
13 |
112,318,539 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9176:Ankrd55
|
UTSW |
13 |
112,323,076 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R9189:Ankrd55
|
UTSW |
13 |
112,368,036 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9332:Ankrd55
|
UTSW |
13 |
112,323,143 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9557:Ankrd55
|
UTSW |
13 |
112,348,813 (GRCm38) |
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