Incidental Mutation 'R9423:Poc5'
ID |
712453 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Poc5
|
Ensembl Gene |
ENSMUSG00000021671 |
Gene Name |
POC5 centriolar protein |
Synonyms |
1200014M14Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9423 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
96524767-96553719 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96547114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 459
(V459A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099295]
|
AlphaFold |
Q9DBS8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099295
AA Change: V459A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096898 Gene: ENSMUSG00000021671 AA Change: V459A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (23/23) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
G |
11: 119,901,520 (GRCm39) |
S959P |
probably damaging |
Het |
Abca13 |
T |
C |
11: 9,240,395 (GRCm39) |
S753P |
probably damaging |
Het |
Abcb10 |
A |
G |
8: 124,688,819 (GRCm39) |
S486P |
|
Het |
Adamts19 |
G |
T |
18: 59,023,427 (GRCm39) |
R274L |
possibly damaging |
Het |
Ahcyl1 |
C |
T |
3: 107,578,476 (GRCm39) |
E254K |
probably damaging |
Het |
Ccdc177 |
T |
G |
12: 80,804,162 (GRCm39) |
D704A |
unknown |
Het |
Cd200r3 |
T |
C |
16: 44,771,895 (GRCm39) |
V53A |
probably benign |
Het |
Cdc42bpg |
T |
C |
19: 6,363,329 (GRCm39) |
L429P |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,148,387 (GRCm39) |
D2660G |
probably damaging |
Het |
Cfap61 |
G |
T |
2: 145,985,155 (GRCm39) |
A1000S |
probably damaging |
Het |
Col28a1 |
T |
C |
6: 7,999,601 (GRCm39) |
T1039A |
probably benign |
Het |
Ctsd |
A |
G |
7: 141,939,212 (GRCm39) |
L71P |
probably damaging |
Het |
Dab2ip |
C |
T |
2: 35,599,966 (GRCm39) |
T251M |
probably damaging |
Het |
Dcaf8 |
T |
A |
1: 172,007,524 (GRCm39) |
I331N |
probably damaging |
Het |
Dcp2 |
C |
T |
18: 44,538,361 (GRCm39) |
R173C |
probably damaging |
Het |
Dgka |
C |
T |
10: 128,557,055 (GRCm39) |
C640Y |
probably damaging |
Het |
Entrep3 |
T |
A |
3: 89,092,007 (GRCm39) |
L155Q |
probably damaging |
Het |
Gm10801 |
AAGT |
AAGTAGT |
2: 98,494,148 (GRCm39) |
|
probably null |
Het |
Gpr141 |
T |
C |
13: 19,935,995 (GRCm39) |
N260S |
probably benign |
Het |
Htr2a |
T |
A |
14: 74,943,516 (GRCm39) |
F365L |
probably damaging |
Het |
Kdm5b |
T |
C |
1: 134,515,705 (GRCm39) |
Y110H |
possibly damaging |
Het |
Ktn1 |
A |
G |
14: 47,912,318 (GRCm39) |
T362A |
probably benign |
Het |
Ltbp1 |
G |
A |
17: 75,597,112 (GRCm39) |
S581N |
probably benign |
Het |
Nr1h4 |
C |
A |
10: 89,309,688 (GRCm39) |
R347L |
possibly damaging |
Het |
Or4f60 |
A |
T |
2: 111,902,808 (GRCm39) |
M40K |
possibly damaging |
Het |
Or8g26 |
G |
T |
9: 39,095,838 (GRCm39) |
M118I |
probably damaging |
Het |
Parg |
T |
G |
14: 31,939,662 (GRCm39) |
F563V |
probably damaging |
Het |
Pfkfb3 |
T |
C |
2: 11,487,276 (GRCm39) |
Y378C |
probably damaging |
Het |
Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
Pitpnm2 |
A |
C |
5: 124,271,469 (GRCm39) |
L368R |
probably benign |
Het |
Pkd1l3 |
A |
G |
8: 110,350,312 (GRCm39) |
T386A |
possibly damaging |
Het |
Plch2 |
C |
A |
4: 155,071,049 (GRCm39) |
C1110F |
|
Het |
Pou4f3 |
T |
C |
18: 42,528,959 (GRCm39) |
S301P |
probably damaging |
Het |
Rpf2 |
T |
C |
10: 40,101,336 (GRCm39) |
D233G |
possibly damaging |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Samd4b |
A |
G |
7: 28,113,633 (GRCm39) |
Y111H |
probably benign |
Het |
Serpinb10 |
C |
T |
1: 107,466,179 (GRCm39) |
T55M |
probably benign |
Het |
Serpinb1a |
C |
T |
13: 33,026,910 (GRCm39) |
C344Y |
probably benign |
Het |
Shprh |
T |
C |
10: 11,081,007 (GRCm39) |
V1524A |
probably damaging |
Het |
Sirt1 |
T |
C |
10: 63,158,025 (GRCm39) |
H463R |
probably damaging |
Het |
Skor2 |
T |
A |
18: 76,948,300 (GRCm39) |
L674Q |
probably damaging |
Het |
Slc3a2 |
T |
A |
19: 8,690,189 (GRCm39) |
K201M |
possibly damaging |
Het |
Spata31h1 |
C |
A |
10: 82,123,459 (GRCm39) |
V3184L |
possibly damaging |
Het |
Stam |
C |
A |
2: 14,146,564 (GRCm39) |
Q421K |
possibly damaging |
Het |
Steap4 |
G |
A |
5: 8,026,720 (GRCm39) |
V228M |
probably damaging |
Het |
Tacr3 |
A |
G |
3: 134,638,043 (GRCm39) |
Y400C |
probably benign |
Het |
Tecpr1 |
A |
G |
5: 144,155,396 (GRCm39) |
V54A |
probably damaging |
Het |
Tgm3 |
A |
T |
2: 129,880,527 (GRCm39) |
E444D |
probably benign |
Het |
Trim30a |
A |
T |
7: 104,078,410 (GRCm39) |
L222Q |
probably damaging |
Het |
Trmt1l |
T |
C |
1: 151,325,817 (GRCm39) |
Y421H |
possibly damaging |
Het |
Usp24 |
T |
C |
4: 106,288,867 (GRCm39) |
F2500L |
probably damaging |
Het |
Vmn2r54 |
T |
A |
7: 12,349,441 (GRCm39) |
S714C |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,227,735 (GRCm39) |
I409T |
probably benign |
Het |
Zfta |
T |
C |
19: 7,397,624 (GRCm39) |
L57P |
probably damaging |
Het |
|
Other mutations in Poc5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00985:Poc5
|
APN |
13 |
96,547,254 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCATGCCCAGGTTAAAG -3'
(R):5'- ACAATGACCGACCATGACTGTC -3'
Sequencing Primer
(F):5'- GCCCAGGTTAAAGAAATATTTTGGAG -3'
(R):5'- TTGACAAGTGGCAGACTTCC -3'
|
Posted On |
2022-05-16 |