Incidental Mutation 'R7953:Poc5'
ID |
649684 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Poc5
|
Ensembl Gene |
ENSMUSG00000021671 |
Gene Name |
POC5 centriolar protein |
Synonyms |
1200014M14Rik |
MMRRC Submission |
045997-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7953 (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 A
at 96539408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 316
(N316K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099295]
|
AlphaFold |
Q9DBS8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099295
AA Change: N316K
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000096898 Gene: ENSMUSG00000021671 AA Change: N316K
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: 99.0%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
A |
G |
4: 62,450,896 (GRCm39) |
R120G |
probably null |
Het |
Abcb9 |
T |
C |
5: 124,211,665 (GRCm39) |
Y628C |
probably damaging |
Het |
Adrm1b |
A |
T |
3: 92,336,637 (GRCm39) |
Y22N |
probably benign |
Het |
Alpk2 |
C |
T |
18: 65,482,901 (GRCm39) |
C369Y |
probably damaging |
Het |
Caskin1 |
T |
G |
17: 24,723,195 (GRCm39) |
L661R |
probably damaging |
Het |
Cep83 |
A |
C |
10: 94,573,804 (GRCm39) |
N231T |
probably damaging |
Het |
Cfap44 |
G |
A |
16: 44,234,054 (GRCm39) |
G338D |
probably benign |
Het |
Chrna7 |
T |
G |
7: 62,753,541 (GRCm39) |
K326T |
possibly damaging |
Het |
Col4a4 |
A |
G |
1: 82,431,689 (GRCm39) |
S1532P |
unknown |
Het |
Cplx4 |
A |
T |
18: 66,090,190 (GRCm39) |
|
probably null |
Het |
Csf1r |
G |
C |
18: 61,257,947 (GRCm39) |
G639R |
probably damaging |
Het |
Dnajc27 |
T |
C |
12: 4,147,270 (GRCm39) |
L151P |
possibly damaging |
Het |
Epha5 |
A |
G |
5: 84,381,513 (GRCm39) |
V446A |
probably benign |
Het |
Esam |
T |
C |
9: 37,448,317 (GRCm39) |
V252A |
probably damaging |
Het |
Flnc |
C |
A |
6: 29,447,828 (GRCm39) |
D1210E |
probably damaging |
Het |
Fmn1 |
G |
A |
2: 113,426,689 (GRCm39) |
M1233I |
probably benign |
Het |
Fstl4 |
T |
C |
11: 52,891,050 (GRCm39) |
S63P |
probably benign |
Het |
Gas2l2 |
A |
G |
11: 83,314,070 (GRCm39) |
V414A |
possibly damaging |
Het |
Glra1 |
G |
A |
11: 55,424,688 (GRCm39) |
P174L |
probably damaging |
Het |
Gm16485 |
A |
T |
9: 8,972,196 (GRCm39) |
N21Y |
unknown |
Het |
Golga7 |
A |
T |
8: 23,746,731 (GRCm39) |
C24S |
possibly damaging |
Het |
Ints8 |
T |
C |
4: 11,227,128 (GRCm39) |
T582A |
probably benign |
Het |
Irx2 |
A |
T |
13: 72,777,343 (GRCm39) |
T55S |
probably benign |
Het |
Lce1j |
A |
T |
3: 92,696,390 (GRCm39) |
C129* |
probably null |
Het |
Mettl25b |
T |
C |
3: 87,834,955 (GRCm39) |
N115S |
possibly damaging |
Het |
Mocs1 |
G |
A |
17: 49,761,799 (GRCm39) |
G631E |
possibly damaging |
Het |
Mpi |
A |
T |
9: 57,457,881 (GRCm39) |
L107Q |
probably damaging |
Het |
Msrb2 |
A |
G |
2: 19,399,166 (GRCm39) |
*176W |
probably null |
Het |
Myh13 |
T |
A |
11: 67,231,206 (GRCm39) |
L401Q |
probably damaging |
Het |
Npffr2 |
G |
A |
5: 89,730,513 (GRCm39) |
V148I |
probably benign |
Het |
Oas1a |
T |
C |
5: 121,035,080 (GRCm39) |
E360G |
probably benign |
Het |
Or4k15c |
A |
T |
14: 50,321,367 (GRCm39) |
I257N |
possibly damaging |
Het |
Or5b96 |
A |
C |
19: 12,867,095 (GRCm39) |
V282G |
probably damaging |
Het |
Or9g20 |
A |
T |
2: 85,630,239 (GRCm39) |
I125N |
probably damaging |
Het |
Pcdha2 |
A |
G |
18: 37,072,579 (GRCm39) |
D70G |
probably benign |
Het |
Phf11b |
T |
C |
14: 59,568,722 (GRCm39) |
S64G |
probably benign |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Plpp2 |
A |
C |
10: 79,366,374 (GRCm39) |
L146R |
possibly damaging |
Het |
Rad51ap2 |
A |
T |
12: 11,512,593 (GRCm39) |
R947* |
probably null |
Het |
Ralgapb |
A |
G |
2: 158,307,803 (GRCm39) |
H1037R |
probably benign |
Het |
Rpl21 |
T |
C |
5: 146,772,702 (GRCm39) |
V141A |
probably benign |
Het |
Rufy3 |
C |
A |
5: 88,790,851 (GRCm39) |
D517E |
probably benign |
Het |
Scn7a |
A |
G |
2: 66,587,670 (GRCm39) |
V11A |
possibly damaging |
Het |
Sipa1l1 |
A |
C |
12: 82,496,700 (GRCm39) |
Q1744P |
probably damaging |
Het |
Smc2 |
T |
C |
4: 52,470,911 (GRCm39) |
|
probably null |
Het |
Sorcs3 |
T |
A |
19: 48,752,734 (GRCm39) |
L843Q |
possibly damaging |
Het |
Strc |
A |
T |
2: 121,207,844 (GRCm39) |
F509Y |
probably damaging |
Het |
Tas2r117 |
A |
C |
6: 132,780,281 (GRCm39) |
T140P |
probably damaging |
Het |
Tnxb |
T |
A |
17: 34,928,509 (GRCm39) |
I2641N |
possibly damaging |
Het |
Tnxb |
C |
A |
17: 34,929,077 (GRCm39) |
P2707T |
probably benign |
Het |
Vmn1r4 |
T |
A |
6: 56,933,515 (GRCm39) |
N6K |
probably benign |
Het |
Vmn1r91 |
T |
A |
7: 19,835,218 (GRCm39) |
S46T |
possibly damaging |
Het |
Zfp750 |
T |
C |
11: 121,402,706 (GRCm39) |
T681A |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCTCAAAGGAATGTGGCTTG -3'
(R):5'- TTCTTAGCAGTATAGACCCAACC -3'
Sequencing Primer
(F):5'- ATCTATAATCTGAGCACTTGGGAGGC -3'
(R):5'- TCACTGATAGCCCCTCAAATTC -3'
|
Posted On |
2020-09-15 |