Incidental Mutation 'R4427:Poc1b'
| ID |
328236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Poc1b
|
| Ensembl Gene |
ENSMUSG00000019952 |
| Gene Name |
POC1 centriolar protein B |
| Synonyms |
Wdr51b, 4933430F16Rik |
| MMRRC Submission |
041145-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4427 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
98942918-99033936 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 98991001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020113]
[ENSMUST00000159043]
[ENSMUST00000159228]
[ENSMUST00000159990]
[ENSMUST00000219884]
|
| AlphaFold |
Q8BHD1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020113
|
| SMART Domains |
Protein: ENSMUSP00000020113
Gene: ENSMUSG00000019952
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
7 |
46 |
1.71e-7 |
SMART |
|
WD40
|
49 |
88 |
8.68e-9 |
SMART |
|
WD40
|
91 |
130 |
2.71e-10 |
SMART |
|
WD40
|
133 |
172 |
2.43e-12 |
SMART |
|
WD40
|
175 |
214 |
2.07e-6 |
SMART |
|
WD40
|
217 |
256 |
1.71e-7 |
SMART |
|
WD40
|
259 |
298 |
7.55e-9 |
SMART |
|
coiled coil region
|
428 |
468 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159043
|
| SMART Domains |
Protein: ENSMUSP00000123719
Gene: ENSMUSG00000019952
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
38 |
5.95e-7 |
SMART |
|
Blast:WD40
|
41 |
75 |
9e-9 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159228
|
| SMART Domains |
Protein: ENSMUSP00000124144
Gene: ENSMUSG00000019952
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
7 |
46 |
1.71e-7 |
SMART |
|
WD40
|
49 |
88 |
8.68e-9 |
SMART |
|
WD40
|
91 |
130 |
2.71e-10 |
SMART |
|
WD40
|
133 |
172 |
2.43e-12 |
SMART |
|
WD40
|
175 |
214 |
2.07e-6 |
SMART |
|
WD40
|
217 |
256 |
1.71e-7 |
SMART |
|
WD40
|
259 |
298 |
7.55e-9 |
SMART |
|
coiled coil region
|
401 |
441 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159990
|
| SMART Domains |
Protein: ENSMUSP00000125423
Gene: ENSMUSG00000019952
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
7 |
46 |
8.68e-9 |
SMART |
|
WD40
|
49 |
88 |
2.71e-10 |
SMART |
|
WD40
|
91 |
130 |
2.43e-12 |
SMART |
|
WD40
|
133 |
172 |
2.07e-6 |
SMART |
|
WD40
|
175 |
214 |
1.71e-7 |
SMART |
|
WD40
|
217 |
256 |
7.55e-9 |
SMART |
|
coiled coil region
|
386 |
426 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219884
|
| Meta Mutation Damage Score |
0.9485 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
96% (48/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,278,678 (GRCm39) |
|
noncoding transcript |
Het |
| A2ml1 |
T |
C |
6: 128,522,009 (GRCm39) |
E1271G |
probably benign |
Het |
| Ccdc88b |
C |
T |
19: 6,827,940 (GRCm39) |
E878K |
probably damaging |
Het |
| Cfap119 |
A |
G |
7: 127,187,288 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,363,562 (GRCm39) |
K2441E |
probably damaging |
Het |
| Cryga |
A |
T |
1: 65,139,775 (GRCm39) |
I121N |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,220,541 (GRCm39) |
Q2115L |
probably benign |
Het |
| Evi2 |
T |
A |
11: 79,407,182 (GRCm39) |
Q131L |
possibly damaging |
Het |
| Exoc1 |
A |
G |
5: 76,711,110 (GRCm39) |
I61V |
probably benign |
Het |
| Firrm |
A |
G |
1: 163,781,853 (GRCm39) |
V858A |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,446,583 (GRCm39) |
|
probably null |
Het |
| Gas2l1 |
A |
G |
11: 5,013,908 (GRCm39) |
V184A |
probably benign |
Het |
| Gsto2 |
T |
C |
19: 47,860,212 (GRCm39) |
S2P |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,403,287 (GRCm39) |
L4402P |
probably damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,896 (GRCm39) |
I200N |
probably damaging |
Het |
| Klhl30 |
A |
G |
1: 91,281,426 (GRCm39) |
D9G |
probably damaging |
Het |
| Ltf |
C |
A |
9: 110,852,672 (GRCm39) |
T178K |
probably damaging |
Het |
| Memo1 |
T |
A |
17: 74,509,302 (GRCm39) |
Y239F |
probably benign |
Het |
| Ogdh |
C |
T |
11: 6,305,421 (GRCm39) |
T972I |
probably benign |
Het |
| Phactr4 |
T |
C |
4: 132,114,352 (GRCm39) |
D24G |
possibly damaging |
Het |
| Pi4ka |
C |
T |
16: 17,098,908 (GRCm39) |
R1992H |
probably damaging |
Het |
| Ppp1r9b |
A |
T |
11: 94,892,150 (GRCm39) |
R188S |
possibly damaging |
Het |
| Pwwp2a |
T |
C |
11: 43,573,344 (GRCm39) |
V142A |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rcsd1 |
C |
A |
1: 165,483,464 (GRCm39) |
V206L |
probably damaging |
Het |
| Rps6ka2 |
T |
A |
17: 7,566,804 (GRCm39) |
D687E |
possibly damaging |
Het |
| Sgce |
G |
A |
6: 4,691,459 (GRCm39) |
A295V |
probably damaging |
Het |
| Siglec15 |
T |
G |
18: 78,086,836 (GRCm39) |
E341A |
possibly damaging |
Het |
| Tcaim |
T |
C |
9: 122,643,561 (GRCm39) |
F87S |
probably benign |
Het |
| Thbs2 |
C |
A |
17: 14,900,597 (GRCm39) |
V537L |
probably benign |
Het |
| Timd6 |
T |
A |
11: 46,475,247 (GRCm39) |
F147L |
probably benign |
Het |
| Tmx3 |
T |
A |
18: 90,541,725 (GRCm39) |
V158D |
probably damaging |
Het |
| Tpm1 |
A |
G |
9: 66,939,847 (GRCm39) |
|
probably benign |
Het |
| Trmt2a |
A |
G |
16: 18,067,093 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,219,555 (GRCm39) |
F297L |
probably benign |
Het |
| Utp18 |
T |
C |
11: 93,757,264 (GRCm39) |
N467D |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,506,981 (GRCm39) |
F777S |
probably damaging |
Het |
| Vwc2 |
A |
G |
11: 11,104,235 (GRCm39) |
T256A |
probably damaging |
Het |
| Zfp300 |
C |
T |
X: 20,949,405 (GRCm39) |
V120I |
possibly damaging |
Het |
| Zfp982 |
A |
T |
4: 147,597,080 (GRCm39) |
R146* |
probably null |
Het |
|
| Other mutations in Poc1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00861:Poc1b
|
APN |
10 |
98,965,514 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01314:Poc1b
|
APN |
10 |
98,965,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02503:Poc1b
|
APN |
10 |
98,980,210 (GRCm39) |
splice site |
probably benign |
|
|
IGL02839:Poc1b
|
APN |
10 |
98,980,460 (GRCm39) |
splice site |
probably benign |
|
|
IGL02966:Poc1b
|
APN |
10 |
98,980,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0708:Poc1b
|
UTSW |
10 |
98,990,992 (GRCm39) |
missense |
probably null |
0.99 |
|
R0723:Poc1b
|
UTSW |
10 |
98,965,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1423:Poc1b
|
UTSW |
10 |
98,988,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4383:Poc1b
|
UTSW |
10 |
98,992,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4426:Poc1b
|
UTSW |
10 |
98,991,001 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5076:Poc1b
|
UTSW |
10 |
98,943,703 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6355:Poc1b
|
UTSW |
10 |
98,965,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6731:Poc1b
|
UTSW |
10 |
98,988,733 (GRCm39) |
missense |
probably null |
1.00 |
|
R6833:Poc1b
|
UTSW |
10 |
99,028,666 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6834:Poc1b
|
UTSW |
10 |
99,028,666 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7184:Poc1b
|
UTSW |
10 |
98,970,199 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7794:Poc1b
|
UTSW |
10 |
98,965,460 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7982:Poc1b
|
UTSW |
10 |
99,000,764 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8172:Poc1b
|
UTSW |
10 |
98,980,338 (GRCm39) |
splice site |
probably null |
|
|
R8182:Poc1b
|
UTSW |
10 |
98,991,005 (GRCm39) |
splice site |
probably null |
|
|
R8544:Poc1b
|
UTSW |
10 |
98,960,770 (GRCm39) |
nonsense |
probably null |
|
|
R8679:Poc1b
|
UTSW |
10 |
99,000,728 (GRCm39) |
splice site |
probably benign |
|
|
R8772:Poc1b
|
UTSW |
10 |
98,992,219 (GRCm39) |
splice site |
probably benign |
|
|
R8931:Poc1b
|
UTSW |
10 |
99,028,861 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9021:Poc1b
|
UTSW |
10 |
98,980,183 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9761:Poc1b
|
UTSW |
10 |
98,965,356 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Poc1b
|
UTSW |
10 |
98,980,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTATCGGACACGTGTTACTAC -3'
(R):5'- ACTGGGCATTCAGTGTCAAC -3'
Sequencing Primer
(F):5'- CGGACACGTGTTACTACATAGATAGC -3'
(R):5'- ACTGGGCATTCAGTGTCAACTAAATG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation