Incidental Mutation 'R7345:Poc5'
| ID |
570160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Poc5
|
| Ensembl Gene |
ENSMUSG00000021671 |
| Gene Name |
POC5 centriolar protein |
| Synonyms |
1200014M14Rik |
| MMRRC Submission |
045379-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7345 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
96524767-96553719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96533304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 144
(E144G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099295]
|
| AlphaFold |
Q9DBS8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099295
AA Change: E144G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096898
Gene: ENSMUSG00000021671
AA Change: E144G
| 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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks3 |
A |
G |
16: 4,773,774 (GRCm39) |
M174T |
possibly damaging |
Het |
| Arhgap23 |
G |
A |
11: 97,357,304 (GRCm39) |
R934Q |
possibly damaging |
Het |
| Atad5 |
T |
C |
11: 79,986,832 (GRCm39) |
S640P |
probably damaging |
Het |
| B3galnt2 |
C |
T |
13: 14,155,065 (GRCm39) |
|
probably null |
Het |
| B430305J03Rik |
T |
C |
3: 61,271,539 (GRCm39) |
S69G |
unknown |
Het |
| Cd163 |
A |
T |
6: 124,295,897 (GRCm39) |
N747I |
possibly damaging |
Het |
| Cep126 |
A |
G |
9: 8,099,817 (GRCm39) |
S906P |
probably damaging |
Het |
| Cimip2b |
T |
C |
4: 43,428,022 (GRCm39) |
D145G |
possibly damaging |
Het |
| Cyp4f39 |
G |
A |
17: 32,705,753 (GRCm39) |
G318R |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,059,129 (GRCm39) |
G257D |
probably damaging |
Het |
| Dcaf10 |
T |
C |
4: 45,342,583 (GRCm39) |
L139P |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,511,895 (GRCm39) |
V840A |
probably benign |
Het |
| Dnhd1 |
A |
T |
7: 105,353,174 (GRCm39) |
I2776L |
probably benign |
Het |
| Fbxo24 |
G |
T |
5: 137,619,523 (GRCm39) |
F234L |
probably damaging |
Het |
| Gm21190 |
T |
C |
5: 15,732,902 (GRCm39) |
|
probably null |
Het |
| Grhl3 |
C |
T |
4: 135,273,557 (GRCm39) |
R565Q |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,244,842 (GRCm39) |
Y1731N |
probably damaging |
Het |
| Il1a |
C |
A |
2: 129,146,693 (GRCm39) |
R133S |
probably benign |
Het |
| Ipo4 |
C |
T |
14: 55,872,988 (GRCm39) |
R23Q |
probably benign |
Het |
| Klc3 |
G |
A |
7: 19,128,814 (GRCm39) |
T481M |
probably benign |
Het |
| Map2k6 |
A |
T |
11: 110,383,734 (GRCm39) |
I127F |
|
Het |
| Mapk8 |
A |
T |
14: 33,130,068 (GRCm39) |
N63K |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,880,825 (GRCm39) |
W1306R |
probably damaging |
Het |
| Megf6 |
C |
A |
4: 154,351,772 (GRCm39) |
Q1162K |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,841,095 (GRCm39) |
E992G |
possibly damaging |
Het |
| Ndst4 |
C |
T |
3: 125,508,308 (GRCm39) |
T291M |
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,955,503 (GRCm38) |
F838L |
probably benign |
Het |
| Nrm |
A |
G |
17: 36,175,476 (GRCm39) |
H194R |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,230,613 (GRCm39) |
S1384P |
probably benign |
Het |
| Olfml2a |
C |
A |
2: 38,850,139 (GRCm39) |
D618E |
probably damaging |
Het |
| Or5p78 |
C |
T |
7: 108,212,270 (GRCm39) |
T252I |
probably benign |
Het |
| Or8g23 |
A |
G |
9: 38,971,875 (GRCm39) |
L29P |
probably damaging |
Het |
| Or8g24 |
G |
A |
9: 38,989,630 (GRCm39) |
S137F |
probably damaging |
Het |
| Or9s18 |
A |
C |
13: 65,300,557 (GRCm39) |
N173T |
possibly damaging |
Het |
| P2ry1 |
T |
C |
3: 60,911,095 (GRCm39) |
F78S |
possibly damaging |
Het |
| Pcdhb18 |
T |
C |
18: 37,624,976 (GRCm39) |
F769L |
probably benign |
Het |
| Pole |
T |
A |
5: 110,451,769 (GRCm39) |
N870K |
possibly damaging |
Het |
| Polr2b |
T |
C |
5: 77,496,966 (GRCm39) |
F1159L |
possibly damaging |
Het |
| Pramel32 |
T |
C |
4: 88,546,416 (GRCm39) |
K309E |
possibly damaging |
Het |
| Rubcnl |
A |
G |
14: 75,279,793 (GRCm39) |
Y392C |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,533,129 (GRCm39) |
T539A |
probably damaging |
Het |
| Serpinh1 |
A |
C |
7: 98,995,563 (GRCm39) |
S340A |
probably damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,530,085 (GRCm39) |
|
probably null |
Het |
| Soat2 |
A |
G |
15: 102,071,013 (GRCm39) |
D469G |
probably benign |
Het |
| Speg |
T |
C |
1: 75,361,479 (GRCm39) |
L70P |
probably damaging |
Het |
| Spred2 |
T |
C |
11: 19,874,958 (GRCm39) |
|
probably null |
Het |
| Stac2 |
A |
C |
11: 97,933,439 (GRCm39) |
S168A |
probably damaging |
Het |
| Stx1a |
T |
A |
5: 135,066,042 (GRCm39) |
D31E |
probably benign |
Het |
| Timeless |
C |
T |
10: 128,085,623 (GRCm39) |
T885M |
probably damaging |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Tsen34 |
T |
C |
7: 3,698,614 (GRCm39) |
Y253H |
probably damaging |
Het |
| Unc13b |
T |
C |
4: 43,173,966 (GRCm39) |
V1598A |
unknown |
Het |
| Zfat |
A |
T |
15: 67,976,892 (GRCm39) |
Y1086N |
probably damaging |
Het |
| Zfp551 |
G |
A |
7: 12,150,522 (GRCm39) |
H296Y |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACGCCTATTTGATTGCTGTGC -3'
(R):5'- TCCCAGGAATCCAAAGGTTTAGG -3'
Sequencing Primer
(F):5'- GTGCTTTTCTTGTAGGGTCACCC -3'
(R):5'- GGGTTGTTGTTGTTTAGGTTTTTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation