Incidental Mutation 'R5060:Poc1a'
| ID |
386566 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Poc1a
|
| Ensembl Gene |
ENSMUSG00000023345 |
| Gene Name |
POC1 centriolar protein A |
| Synonyms |
Wdr51a, 2510040D07Rik, cha |
| MMRRC Submission |
042650-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.339)
|
| Stock # |
R5060 (G1)
|
| Quality Score |
112 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106158260-106227720 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
G to T
at 106227012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072206]
[ENSMUST00000191434]
[ENSMUST00000217213]
[ENSMUST00000216228]
[ENSMUST00000214540]
|
| AlphaFold |
Q8JZX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072206
|
| SMART Domains |
Protein: ENSMUSP00000072064
Gene: ENSMUSG00000023345
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
8 |
47 |
1.76e-9 |
SMART |
|
WD40
|
50 |
89 |
5.51e-11 |
SMART |
|
WD40
|
92 |
131 |
2.45e-8 |
SMART |
|
WD40
|
134 |
173 |
5.14e-11 |
SMART |
|
WD40
|
176 |
215 |
5.06e-10 |
SMART |
|
WD40
|
218 |
257 |
9.97e-9 |
SMART |
|
WD40
|
260 |
299 |
2.67e-9 |
SMART |
|
low complexity region
|
315 |
326 |
N/A |
INTRINSIC |
|
coiled coil region
|
367 |
395 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186366
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189325
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191434
|
| SMART Domains |
Protein: ENSMUSP00000140374
Gene: ENSMUSG00000023345
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
7 |
46 |
1.76e-9 |
SMART |
|
WD40
|
49 |
88 |
5.51e-11 |
SMART |
|
WD40
|
91 |
130 |
2.45e-8 |
SMART |
|
WD40
|
133 |
172 |
5.14e-11 |
SMART |
|
WD40
|
175 |
214 |
5.06e-10 |
SMART |
|
WD40
|
217 |
256 |
9.97e-9 |
SMART |
|
WD40
|
259 |
298 |
2.67e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214208
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214483
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000216306
AA Change: G415W
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217213
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216228
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214540
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (52/53) |
| 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. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for this mutation exhibit disproportionate dwarfism and male infertility. [provided by MGI curators]
|
| 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: 48,474,107 (GRCm39) |
L17Q |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,110,430 (GRCm39) |
V573A |
possibly damaging |
Het |
| Abcc9 |
A |
G |
6: 142,571,836 (GRCm39) |
|
probably benign |
Het |
| Actg1 |
A |
G |
11: 120,237,839 (GRCm39) |
S234P |
probably benign |
Het |
| Acvr2a |
A |
G |
2: 48,780,311 (GRCm39) |
D177G |
probably damaging |
Het |
| Adamts12 |
T |
C |
15: 11,300,054 (GRCm39) |
C914R |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,298,621 (GRCm39) |
I103T |
possibly damaging |
Het |
| Als2cl |
C |
T |
9: 110,713,205 (GRCm39) |
L32F |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,739,570 (GRCm39) |
|
probably benign |
Het |
| Ankrd52 |
T |
A |
10: 128,225,710 (GRCm39) |
S959R |
possibly damaging |
Het |
| Bnc2 |
C |
A |
4: 84,449,872 (GRCm39) |
A122S |
probably benign |
Het |
| Cert1 |
A |
T |
13: 96,739,663 (GRCm39) |
K226N |
probably benign |
Het |
| Cfap54 |
C |
T |
10: 92,875,013 (GRCm39) |
V443M |
probably damaging |
Het |
| Cilk1 |
C |
T |
9: 78,060,978 (GRCm39) |
T208I |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,617,267 (GRCm39) |
R794S |
probably damaging |
Het |
| Cyp2c65 |
T |
C |
19: 39,049,514 (GRCm39) |
L14P |
unknown |
Het |
| Ggt5 |
T |
C |
10: 75,440,608 (GRCm39) |
M243T |
probably benign |
Het |
| Gmds |
A |
G |
13: 32,124,482 (GRCm39) |
I292T |
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,386,355 (GRCm39) |
V341E |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,620,167 (GRCm39) |
F359S |
probably damaging |
Het |
| Hcn1 |
A |
T |
13: 118,010,441 (GRCm39) |
K340* |
probably null |
Het |
| Heatr9 |
T |
C |
11: 83,403,258 (GRCm39) |
E427G |
probably benign |
Het |
| Kif26b |
G |
A |
1: 178,358,195 (GRCm39) |
G102D |
unknown |
Het |
| Mark3 |
T |
C |
12: 111,584,760 (GRCm39) |
F119L |
probably damaging |
Het |
| Melk |
T |
C |
4: 44,350,959 (GRCm39) |
V500A |
probably benign |
Het |
| Mrpl41 |
A |
G |
2: 24,864,295 (GRCm39) |
F126L |
probably damaging |
Het |
| Or10c1 |
C |
A |
17: 37,522,307 (GRCm39) |
A146S |
probably benign |
Het |
| Or6c3b |
C |
T |
10: 129,527,699 (GRCm39) |
M70I |
probably benign |
Het |
| Pax7 |
A |
T |
4: 139,506,928 (GRCm39) |
S372T |
probably benign |
Het |
| Pax7 |
A |
T |
4: 139,556,906 (GRCm39) |
I118N |
probably damaging |
Het |
| Plcl1 |
G |
T |
1: 55,735,671 (GRCm39) |
M337I |
possibly damaging |
Het |
| Rabgef1 |
A |
G |
5: 130,240,844 (GRCm39) |
Y321C |
probably damaging |
Het |
| Rhobtb3 |
A |
C |
13: 76,061,389 (GRCm39) |
L252R |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,004,063 (GRCm39) |
V1639A |
probably benign |
Het |
| Tff1 |
A |
G |
17: 31,381,682 (GRCm39) |
V65A |
probably damaging |
Het |
| Trpm4 |
G |
T |
7: 44,971,258 (GRCm39) |
D222E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,643,741 (GRCm39) |
D13162E |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,209,723 (GRCm39) |
S466T |
probably benign |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,683 (GRCm39) |
Y167C |
probably damaging |
Het |
| Vwde |
C |
T |
6: 13,208,323 (GRCm39) |
|
probably null |
Het |
| Xpr1 |
T |
C |
1: 155,204,430 (GRCm39) |
|
probably null |
Het |
| Zbtb40 |
A |
G |
4: 136,728,604 (GRCm39) |
V413A |
possibly damaging |
Het |
|
| Other mutations in Poc1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01146:Poc1a
|
APN |
9 |
106,182,503 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02792:Poc1a
|
APN |
9 |
106,172,393 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02936:Poc1a
|
APN |
9 |
106,162,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4305001:Poc1a
|
UTSW |
9 |
106,227,028 (GRCm39) |
missense |
|
|
|
R2154:Poc1a
|
UTSW |
9 |
106,162,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4658:Poc1a
|
UTSW |
9 |
106,226,887 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4811:Poc1a
|
UTSW |
9 |
106,226,908 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5058:Poc1a
|
UTSW |
9 |
106,227,012 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5059:Poc1a
|
UTSW |
9 |
106,227,012 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5461:Poc1a
|
UTSW |
9 |
106,165,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7592:Poc1a
|
UTSW |
9 |
106,226,967 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8680:Poc1a
|
UTSW |
9 |
106,226,960 (GRCm39) |
missense |
probably benign |
|
|
R9122:Poc1a
|
UTSW |
9 |
106,162,242 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF009:Poc1a
|
UTSW |
9 |
106,172,417 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATACTGACTCCTAGGGCAGC -3'
(R):5'- TAAACTGCATGTGGCCCTGC -3'
Sequencing Primer
(F):5'- AGCGAGGCAGGCTTTCCATC -3'
(R):5'- GGGTCTCCAGTCTCCTTTTTGTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation