Incidental Mutation 'IGL01377:Poc5'
ID |
78770 |
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 # |
IGL01377
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
96524767-96553719 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96538139 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 268
(V268A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099295]
|
AlphaFold |
Q9DBS8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099295
AA Change: V268A
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000096898 Gene: ENSMUSG00000021671 AA Change: V268A
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: ENSMUST00000221039
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222640
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223478
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
A |
T |
17: 48,460,108 (GRCm39) |
V196D |
probably damaging |
Het |
Ago1 |
C |
T |
4: 126,353,610 (GRCm39) |
V279M |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 37,027,601 (GRCm39) |
|
probably null |
Het |
Ccdc170 |
A |
G |
10: 4,510,966 (GRCm39) |
D675G |
probably damaging |
Het |
Cdc42bpa |
T |
A |
1: 179,892,708 (GRCm39) |
Y291N |
probably damaging |
Het |
Cdca5 |
T |
C |
19: 6,140,312 (GRCm39) |
S158P |
probably damaging |
Het |
Cdh8 |
A |
G |
8: 99,760,021 (GRCm39) |
I576T |
probably damaging |
Het |
Cpsf2 |
T |
A |
12: 101,953,640 (GRCm39) |
|
probably null |
Het |
Cyc1 |
C |
T |
15: 76,229,162 (GRCm39) |
R143* |
probably null |
Het |
Dcaf6 |
A |
T |
1: 165,216,293 (GRCm39) |
S437T |
probably benign |
Het |
Eif5b |
A |
G |
1: 38,075,179 (GRCm39) |
D552G |
probably benign |
Het |
Epor |
T |
C |
9: 21,870,593 (GRCm39) |
D429G |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,531,181 (GRCm39) |
I560V |
possibly damaging |
Het |
Fbxw21 |
T |
A |
9: 108,975,713 (GRCm39) |
R228* |
probably null |
Het |
Fyb1 |
T |
C |
15: 6,609,801 (GRCm39) |
S125P |
probably benign |
Het |
Gfm1 |
A |
T |
3: 67,382,086 (GRCm39) |
Y720F |
probably damaging |
Het |
Hspbap1 |
T |
A |
16: 35,645,681 (GRCm39) |
D455E |
possibly damaging |
Het |
Katnal2 |
T |
C |
18: 77,090,153 (GRCm39) |
R285G |
probably damaging |
Het |
Kif12 |
G |
A |
4: 63,088,962 (GRCm39) |
T153I |
probably damaging |
Het |
Klhl31 |
T |
C |
9: 77,558,013 (GRCm39) |
F243S |
probably benign |
Het |
Large2 |
A |
G |
2: 92,199,676 (GRCm39) |
Y208H |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,491,550 (GRCm39) |
V239A |
probably damaging |
Het |
Mblac2 |
G |
A |
13: 81,898,266 (GRCm39) |
R214H |
probably damaging |
Het |
Mlf2 |
A |
G |
6: 124,911,654 (GRCm39) |
N168D |
probably damaging |
Het |
Mtmr6 |
T |
A |
14: 60,519,483 (GRCm39) |
Y134* |
probably null |
Het |
Mtus1 |
T |
C |
8: 41,536,172 (GRCm39) |
K515E |
possibly damaging |
Het |
Nek1 |
A |
G |
8: 61,542,490 (GRCm39) |
T718A |
probably benign |
Het |
Nfx1 |
A |
G |
4: 40,977,241 (GRCm39) |
N305S |
probably benign |
Het |
Nrxn3 |
T |
A |
12: 89,499,782 (GRCm39) |
|
probably null |
Het |
Nsf |
T |
C |
11: 103,763,473 (GRCm39) |
D377G |
probably damaging |
Het |
Pde4b |
A |
G |
4: 102,344,599 (GRCm39) |
E102G |
probably damaging |
Het |
Pdlim4 |
G |
T |
11: 53,947,130 (GRCm39) |
S56R |
probably benign |
Het |
Sec23b |
A |
C |
2: 144,401,157 (GRCm39) |
E6A |
probably damaging |
Het |
Sgsm1 |
A |
T |
5: 113,424,048 (GRCm39) |
|
probably benign |
Het |
Slc16a12 |
T |
A |
19: 34,650,084 (GRCm39) |
N317I |
possibly damaging |
Het |
Slc1a7 |
A |
T |
4: 107,850,162 (GRCm39) |
D91V |
probably damaging |
Het |
Slc30a9 |
T |
G |
5: 67,473,173 (GRCm39) |
S86A |
probably benign |
Het |
Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
Tacr1 |
T |
C |
6: 82,380,636 (GRCm39) |
S16P |
probably benign |
Het |
Tmtc1 |
A |
C |
6: 148,147,285 (GRCm39) |
V804G |
possibly damaging |
Het |
Ttc7b |
A |
G |
12: 100,321,371 (GRCm39) |
F587L |
probably benign |
Het |
Vmn2r86 |
A |
T |
10: 130,288,855 (GRCm39) |
D215E |
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 |
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 |
2013-11-05 |