Incidental Mutation 'IGL01146:Poc1a'
| ID |
52013 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Poc1a
|
| Ensembl Gene |
ENSMUSG00000023345 |
| Gene Name |
POC1 centriolar protein A |
| Synonyms |
Wdr51a, 2510040D07Rik, cha |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.339)
|
| Stock # |
IGL01146
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
106158260-106227720 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106182503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 285
(Y285H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072206]
[ENSMUST00000191434]
[ENSMUST00000217213]
[ENSMUST00000216228]
[ENSMUST00000214540]
|
| AlphaFold |
Q8JZX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072206
AA Change: Y285H
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000072064
Gene: ENSMUSG00000023345
AA Change: Y285H
| 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: ENSMUST00000185808
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189325
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191434
AA Change: Y284H
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000140374
Gene: ENSMUSG00000023345
AA Change: Y284H
| 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 |
unknown
Transcript: ENSMUST00000214208
AA Change: Y268H
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000214483
AA Change: Y268H
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000216306
AA Change: Y268H
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217213
AA Change: Y247H
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216228
AA Change: Y247H
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214540
AA Change: Y247H
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
T |
C |
6: 40,943,217 (GRCm39) |
I54T |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,403,957 (GRCm39) |
V701A |
possibly damaging |
Het |
| Adam6a |
A |
T |
12: 113,507,840 (GRCm39) |
Y71F |
probably damaging |
Het |
| Arhgef37 |
A |
T |
18: 61,651,081 (GRCm39) |
I148N |
possibly damaging |
Het |
| Bhlhe40 |
T |
C |
6: 108,641,901 (GRCm39) |
S282P |
possibly damaging |
Het |
| Bmp2 |
A |
T |
2: 133,403,220 (GRCm39) |
Q257L |
probably benign |
Het |
| C2cd4d |
A |
G |
3: 94,271,770 (GRCm39) |
|
probably benign |
Het |
| Calcr |
T |
A |
6: 3,700,144 (GRCm39) |
Y316F |
possibly damaging |
Het |
| Ccdc186 |
T |
C |
19: 56,797,749 (GRCm39) |
E274G |
probably damaging |
Het |
| Cdc34b |
G |
T |
11: 94,633,420 (GRCm39) |
D207Y |
probably benign |
Het |
| Chst5 |
C |
T |
8: 112,617,314 (GRCm39) |
C102Y |
probably damaging |
Het |
| Cnbd2 |
T |
A |
2: 156,154,534 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
C |
T |
2: 130,612,591 (GRCm39) |
|
probably null |
Het |
| Dnm1l |
T |
C |
16: 16,132,189 (GRCm39) |
D549G |
probably benign |
Het |
| Gm4847 |
T |
A |
1: 166,462,521 (GRCm39) |
D323V |
probably damaging |
Het |
| Gm9843 |
G |
A |
16: 76,200,255 (GRCm39) |
|
noncoding transcript |
Het |
| Gopc |
A |
G |
10: 52,234,963 (GRCm39) |
V120A |
probably benign |
Het |
| Kmt2c |
T |
G |
5: 25,513,510 (GRCm39) |
M3095L |
probably damaging |
Het |
| Man1a |
T |
C |
10: 53,783,615 (GRCm39) |
E629G |
possibly damaging |
Het |
| Pde4b |
T |
A |
4: 102,112,460 (GRCm39) |
S12T |
possibly damaging |
Het |
| Phf2 |
A |
T |
13: 48,973,083 (GRCm39) |
L391Q |
unknown |
Het |
| Phf8-ps |
A |
G |
17: 33,284,357 (GRCm39) |
L815S |
possibly damaging |
Het |
| Plekha7 |
G |
A |
7: 115,756,708 (GRCm39) |
|
probably benign |
Het |
| Pmpcb |
T |
A |
5: 21,945,476 (GRCm39) |
|
probably benign |
Het |
| Polr1e |
T |
C |
4: 45,031,369 (GRCm39) |
L387S |
probably damaging |
Het |
| Prr9 |
A |
T |
3: 92,030,504 (GRCm39) |
C45* |
probably null |
Het |
| Rnf157 |
T |
C |
11: 116,240,912 (GRCm39) |
H393R |
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,808,496 (GRCm39) |
F554L |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,576,275 (GRCm39) |
S861P |
probably damaging |
Het |
| Sh3tc2 |
G |
T |
18: 62,122,582 (GRCm39) |
D448Y |
probably damaging |
Het |
| Smg6 |
T |
G |
11: 74,821,254 (GRCm39) |
Y508* |
probably null |
Het |
| Sult6b2 |
C |
T |
6: 142,750,034 (GRCm39) |
G28D |
probably benign |
Het |
| Traf2 |
C |
A |
2: 25,414,931 (GRCm39) |
C303F |
probably benign |
Het |
|
| Other mutations in Poc1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R5060: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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation