Incidental Mutation 'IGL00985:Poc5'
ID |
28906 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Poc5
|
Ensembl Gene |
ENSMUSG00000021671 |
Gene Name |
POC5 centriolar protein |
Synonyms |
1200014M14Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00985
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
96524767-96553719 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96547254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 506
(K506E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099295]
|
AlphaFold |
Q9DBS8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099295
AA Change: K506E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096898 Gene: ENSMUSG00000021671 AA Change: K506E
Domain | Start | End | E-Value | Type |
coiled coil region
|
175 |
206 |
N/A |
INTRINSIC |
coiled coil region
|
300 |
341 |
N/A |
INTRINSIC |
low complexity region
|
370 |
382 |
N/A |
INTRINSIC |
low complexity region
|
418 |
433 |
N/A |
INTRINSIC |
low complexity region
|
436 |
456 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222792
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223478
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630091E08Rik |
G |
T |
7: 98,193,125 (GRCm39) |
|
noncoding transcript |
Het |
Abca15 |
G |
A |
7: 119,996,241 (GRCm39) |
G1389E |
probably damaging |
Het |
Adcy3 |
T |
C |
12: 4,184,600 (GRCm39) |
V92A |
probably damaging |
Het |
Aoc1l1 |
A |
G |
6: 48,954,481 (GRCm39) |
S540G |
probably benign |
Het |
Aplnr |
A |
T |
2: 84,968,007 (GRCm39) |
Y344F |
probably benign |
Het |
Atm |
A |
T |
9: 53,371,116 (GRCm39) |
V2241E |
probably damaging |
Het |
Cep290 |
T |
C |
10: 100,403,023 (GRCm39) |
|
probably benign |
Het |
Cnpy1 |
A |
T |
5: 28,414,152 (GRCm39) |
Y91* |
probably null |
Het |
Cobl |
C |
A |
11: 12,204,843 (GRCm39) |
G613W |
probably damaging |
Het |
Csn1s2a |
T |
C |
5: 87,932,439 (GRCm39) |
S121P |
possibly damaging |
Het |
Flg2 |
A |
T |
3: 93,110,585 (GRCm39) |
Y871F |
unknown |
Het |
Gapvd1 |
T |
A |
2: 34,585,575 (GRCm39) |
D1008V |
probably damaging |
Het |
Gask1a |
T |
C |
9: 121,807,401 (GRCm39) |
L515P |
probably damaging |
Het |
Igfl3 |
T |
C |
7: 17,914,000 (GRCm39) |
|
probably null |
Het |
Kmt2b |
A |
T |
7: 30,279,352 (GRCm39) |
V1470E |
probably damaging |
Het |
Mcc |
A |
T |
18: 44,624,306 (GRCm39) |
L413Q |
probably damaging |
Het |
Mia2 |
G |
A |
12: 59,235,146 (GRCm39) |
G610D |
probably damaging |
Het |
Mlst8 |
A |
T |
17: 24,696,287 (GRCm39) |
D147E |
probably damaging |
Het |
Muc19 |
G |
T |
15: 91,770,943 (GRCm39) |
|
noncoding transcript |
Het |
Mybpc3 |
A |
G |
2: 90,965,704 (GRCm39) |
E1172G |
probably benign |
Het |
Niban3 |
T |
C |
8: 72,057,507 (GRCm39) |
|
probably benign |
Het |
Nop14 |
A |
T |
5: 34,802,133 (GRCm39) |
L557Q |
probably damaging |
Het |
P3h3 |
T |
C |
6: 124,822,552 (GRCm39) |
T540A |
probably benign |
Het |
Phc3 |
T |
A |
3: 30,968,346 (GRCm39) |
I897F |
probably benign |
Het |
Plekhh2 |
G |
A |
17: 84,871,356 (GRCm39) |
V205I |
probably benign |
Het |
Pum1 |
C |
A |
4: 130,471,100 (GRCm39) |
T450K |
probably damaging |
Het |
Retnlg |
G |
A |
16: 48,694,688 (GRCm39) |
R112H |
possibly damaging |
Het |
Rgl2 |
T |
C |
17: 34,151,075 (GRCm39) |
V101A |
probably damaging |
Het |
Serinc5 |
A |
G |
13: 92,842,779 (GRCm39) |
T410A |
probably damaging |
Het |
Shroom1 |
T |
C |
11: 53,356,796 (GRCm39) |
V553A |
probably benign |
Het |
Slco4c1 |
A |
T |
1: 96,768,912 (GRCm39) |
W317R |
probably damaging |
Het |
Snap91 |
T |
C |
9: 86,703,790 (GRCm39) |
T268A |
probably benign |
Het |
Supt16 |
T |
C |
14: 52,399,148 (GRCm39) |
K1044E |
possibly damaging |
Het |
Tarbp1 |
A |
T |
8: 127,185,900 (GRCm39) |
L431I |
probably damaging |
Het |
Tas2r124 |
C |
T |
6: 132,732,492 (GRCm39) |
T267I |
probably benign |
Het |
Tm7sf3 |
C |
T |
6: 146,507,692 (GRCm39) |
V457I |
possibly damaging |
Het |
Tmem132c |
A |
T |
5: 127,581,930 (GRCm39) |
S382C |
probably damaging |
Het |
Tmprss7 |
C |
A |
16: 45,482,685 (GRCm39) |
C582F |
probably damaging |
Het |
Tsc2 |
T |
C |
17: 24,816,105 (GRCm39) |
E1694G |
probably damaging |
Het |
Txndc2 |
G |
T |
17: 65,945,544 (GRCm39) |
S211Y |
possibly damaging |
Het |
Ubr3 |
A |
C |
2: 69,833,775 (GRCm39) |
T205P |
probably damaging |
Het |
Vmn2r116 |
G |
A |
17: 23,620,489 (GRCm39) |
G741D |
probably damaging |
Het |
Vps8 |
G |
A |
16: 21,296,334 (GRCm39) |
|
probably benign |
Het |
Wdr19 |
G |
A |
5: 65,409,642 (GRCm39) |
D1127N |
probably benign |
Het |
Zim1 |
T |
A |
7: 6,685,759 (GRCm39) |
Y83F |
possibly damaging |
Het |
|
Other mutations in Poc5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01377:Poc5
|
APN |
13 |
96,538,139 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02981:Poc5
|
APN |
13 |
96,538,265 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03031:Poc5
|
APN |
13 |
96,538,123 (GRCm39) |
missense |
probably benign |
0.00 |
R0348:Poc5
|
UTSW |
13 |
96,535,374 (GRCm39) |
missense |
probably null |
1.00 |
R1533:Poc5
|
UTSW |
13 |
96,528,152 (GRCm39) |
missense |
probably damaging |
0.96 |
R1881:Poc5
|
UTSW |
13 |
96,535,239 (GRCm39) |
missense |
probably benign |
0.21 |
R2171:Poc5
|
UTSW |
13 |
96,547,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R2337:Poc5
|
UTSW |
13 |
96,547,111 (GRCm39) |
missense |
probably damaging |
0.98 |
R3419:Poc5
|
UTSW |
13 |
96,540,925 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3736:Poc5
|
UTSW |
13 |
96,533,324 (GRCm39) |
missense |
probably damaging |
1.00 |
R4554:Poc5
|
UTSW |
13 |
96,539,529 (GRCm39) |
missense |
probably benign |
0.40 |
R5223:Poc5
|
UTSW |
13 |
96,539,463 (GRCm39) |
missense |
probably benign |
0.20 |
R5436:Poc5
|
UTSW |
13 |
96,533,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R6089:Poc5
|
UTSW |
13 |
96,533,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R6700:Poc5
|
UTSW |
13 |
96,531,003 (GRCm39) |
missense |
probably benign |
0.00 |
R7345:Poc5
|
UTSW |
13 |
96,533,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R7354:Poc5
|
UTSW |
13 |
96,531,033 (GRCm39) |
missense |
probably benign |
0.02 |
R7363:Poc5
|
UTSW |
13 |
96,540,925 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7454:Poc5
|
UTSW |
13 |
96,537,340 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7773:Poc5
|
UTSW |
13 |
96,547,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R7786:Poc5
|
UTSW |
13 |
96,541,027 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7953:Poc5
|
UTSW |
13 |
96,539,408 (GRCm39) |
missense |
probably benign |
0.27 |
R8850:Poc5
|
UTSW |
13 |
96,535,228 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9423:Poc5
|
UTSW |
13 |
96,547,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R9723:Poc5
|
UTSW |
13 |
96,551,026 (GRCm39) |
missense |
probably benign |
0.00 |
X0019:Poc5
|
UTSW |
13 |
96,531,056 (GRCm39) |
frame shift |
probably null |
|
X0024:Poc5
|
UTSW |
13 |
96,531,056 (GRCm39) |
frame shift |
probably null |
|
X0034:Poc5
|
UTSW |
13 |
96,531,056 (GRCm39) |
frame shift |
probably null |
|
X0035:Poc5
|
UTSW |
13 |
96,531,056 (GRCm39) |
frame shift |
probably null |
|
X0036:Poc5
|
UTSW |
13 |
96,531,056 (GRCm39) |
frame shift |
probably null |
|
X0037:Poc5
|
UTSW |
13 |
96,531,056 (GRCm39) |
frame shift |
probably null |
|
X0038:Poc5
|
UTSW |
13 |
96,531,056 (GRCm39) |
frame shift |
probably null |
|
X0039:Poc5
|
UTSW |
13 |
96,531,056 (GRCm39) |
frame shift |
probably null |
|
X0040:Poc5
|
UTSW |
13 |
96,531,056 (GRCm39) |
frame shift |
probably null |
|
X0052:Poc5
|
UTSW |
13 |
96,531,056 (GRCm39) |
frame shift |
probably null |
|
X0053:Poc5
|
UTSW |
13 |
96,531,056 (GRCm39) |
frame shift |
probably null |
|
X0054:Poc5
|
UTSW |
13 |
96,531,056 (GRCm39) |
frame shift |
probably null |
|
X0058:Poc5
|
UTSW |
13 |
96,531,056 (GRCm39) |
frame shift |
probably null |
|
X0060:Poc5
|
UTSW |
13 |
96,531,056 (GRCm39) |
frame shift |
probably null |
|
X0061:Poc5
|
UTSW |
13 |
96,531,056 (GRCm39) |
frame shift |
probably null |
|
X0062:Poc5
|
UTSW |
13 |
96,531,056 (GRCm39) |
frame shift |
probably null |
|
X0063:Poc5
|
UTSW |
13 |
96,531,056 (GRCm39) |
frame shift |
probably null |
|
Z1176:Poc5
|
UTSW |
13 |
96,538,230 (GRCm39) |
missense |
probably benign |
0.25 |
|
Posted On |
2013-04-17 |