Incidental Mutation 'R6355:Poc1b'
| ID |
512344 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Poc1b
|
| Ensembl Gene |
ENSMUSG00000019952 |
| Gene Name |
POC1 centriolar protein B |
| Synonyms |
Wdr51b, 4933430F16Rik |
| MMRRC Submission |
044507-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6355 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
98942918-99033936 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98965436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 80
(E80K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020113]
[ENSMUST00000060761]
[ENSMUST00000159043]
[ENSMUST00000159228]
[ENSMUST00000159990]
[ENSMUST00000219884]
|
| AlphaFold |
Q8BHD1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020113
AA Change: E122K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020113
Gene: ENSMUSG00000019952
AA Change: E122K
| 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: ENSMUST00000060761
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159043
AA Change: E30K
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123719
Gene: ENSMUSG00000019952
AA Change: E30K
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
38 |
5.95e-7 |
SMART |
|
Blast:WD40
|
41 |
75 |
9e-9 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159228
AA Change: E122K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124144
Gene: ENSMUSG00000019952
AA Change: E122K
| 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 damaging
Transcript: ENSMUST00000159990
AA Change: E80K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125423
Gene: ENSMUSG00000019952
AA Change: E80K
| 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 |
possibly damaging
Transcript: ENSMUST00000219884
AA Change: E122K
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
98% (41/42) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
T |
G |
13: 30,565,482 (GRCm39) |
F182L |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,986,126 (GRCm39) |
E2470G |
probably benign |
Het |
| Arhgap20 |
T |
C |
9: 51,755,020 (GRCm39) |
W418R |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,804,907 (GRCm39) |
D832G |
possibly damaging |
Het |
| Btbd2 |
A |
G |
10: 80,481,183 (GRCm39) |
F325L |
possibly damaging |
Het |
| Chrna10 |
A |
T |
7: 101,762,292 (GRCm39) |
|
probably null |
Het |
| Cyp26a1 |
T |
C |
19: 37,687,377 (GRCm39) |
I188T |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,080,469 (GRCm39) |
C871R |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,896,511 (GRCm39) |
S4287P |
probably benign |
Het |
| Gm5519 |
A |
T |
19: 33,802,471 (GRCm39) |
*171C |
probably null |
Het |
| Gnat1 |
C |
A |
9: 107,554,623 (GRCm39) |
V81F |
probably benign |
Het |
| Gorab |
G |
A |
1: 163,214,138 (GRCm39) |
A264V |
probably damaging |
Het |
| Ift172 |
A |
T |
5: 31,441,501 (GRCm39) |
V211E |
probably benign |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Kif26b |
A |
C |
1: 178,743,743 (GRCm39) |
S1280R |
probably damaging |
Het |
| Lce3e |
C |
T |
3: 92,875,042 (GRCm39) |
|
probably benign |
Het |
| Magi1 |
A |
G |
6: 94,260,177 (GRCm39) |
Y43H |
probably benign |
Het |
| Mon2 |
T |
A |
10: 122,858,825 (GRCm39) |
M829L |
possibly damaging |
Het |
| Nmd3 |
G |
A |
3: 69,636,680 (GRCm39) |
V96I |
probably benign |
Het |
| Ogfod1 |
T |
C |
8: 94,789,610 (GRCm39) |
M437T |
probably benign |
Het |
| Or4f54 |
A |
G |
2: 111,123,230 (GRCm39) |
I206V |
probably benign |
Het |
| Or5m9b |
T |
A |
2: 85,905,216 (GRCm39) |
I44K |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,702 (GRCm39) |
T214A |
probably benign |
Het |
| Pabpc2 |
A |
G |
18: 39,907,445 (GRCm39) |
S237G |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,839,757 (GRCm39) |
D488E |
possibly damaging |
Het |
| Phldb2 |
C |
T |
16: 45,645,701 (GRCm39) |
M293I |
probably damaging |
Het |
| Prdm5 |
C |
A |
6: 65,860,578 (GRCm39) |
Q421K |
probably damaging |
Het |
| Rad54b |
A |
G |
4: 11,604,989 (GRCm39) |
E479G |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,745,639 (GRCm39) |
S1239P |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,330,235 (GRCm39) |
V1052A |
possibly damaging |
Het |
| Satb2 |
G |
T |
1: 56,987,356 (GRCm39) |
D83E |
probably damaging |
Het |
| Sccpdh |
T |
C |
1: 179,498,165 (GRCm39) |
S70P |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,291,643 (GRCm39) |
F1701S |
probably damaging |
Het |
| Srsf9 |
A |
G |
5: 115,465,368 (GRCm39) |
M1V |
probably null |
Het |
| Stk32a |
T |
A |
18: 43,430,659 (GRCm39) |
|
probably null |
Het |
| Sult2a5 |
A |
C |
7: 13,396,462 (GRCm39) |
Y183S |
probably benign |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Tnip2 |
G |
A |
5: 34,656,541 (GRCm39) |
Q255* |
probably null |
Het |
| Vmn1r26 |
A |
G |
6: 57,985,536 (GRCm39) |
W218R |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,916,659 (GRCm39) |
Y424C |
probably benign |
Het |
| Vmn2r86 |
T |
A |
10: 130,291,763 (GRCm39) |
M1L |
probably damaging |
Het |
| Wnt3a |
A |
T |
11: 59,166,058 (GRCm39) |
I74N |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,641,415 (GRCm39) |
H80Q |
probably benign |
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 |
|
|
R4427: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 |
|
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'- CTGTGATTTCCATGAACCAAGC -3'
(R):5'- GGATAAGAGCCCAGTTCCTTG -3'
Sequencing Primer
(F):5'- ATGGCCTTCACATACTTTCTTAAGG -3'
(R):5'- ATAAGAGCCCAGTTCCTTGTCTGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation