Incidental Mutation 'R0762:Pcm1'
| ID |
72458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcm1
|
| Ensembl Gene |
ENSMUSG00000031592 |
| Gene Name |
pericentriolar material 1 |
| Synonyms |
9430077F19Rik, C030044G17Rik, 2600002H09Rik |
| MMRRC Submission |
038942-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0762 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
41692789-41785381 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41714057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 208
(R208W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045218]
[ENSMUST00000210862]
[ENSMUST00000211247]
|
| AlphaFold |
Q9R0L6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045218
AA Change: R208W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039709
Gene: ENSMUSG00000031592
AA Change: R208W
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
218 |
238 |
N/A |
INTRINSIC |
|
coiled coil region
|
270 |
301 |
N/A |
INTRINSIC |
|
coiled coil region
|
399 |
426 |
N/A |
INTRINSIC |
|
coiled coil region
|
492 |
520 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
647 |
N/A |
INTRINSIC |
|
coiled coil region
|
652 |
683 |
N/A |
INTRINSIC |
|
coiled coil region
|
724 |
772 |
N/A |
INTRINSIC |
|
coiled coil region
|
822 |
856 |
N/A |
INTRINSIC |
|
coiled coil region
|
988 |
1017 |
N/A |
INTRINSIC |
|
low complexity region
|
1021 |
1033 |
N/A |
INTRINSIC |
|
low complexity region
|
1287 |
1301 |
N/A |
INTRINSIC |
|
Pfam:PCM1_C
|
1369 |
1999 |
3.6e-295 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210862
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211090
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211247
AA Change: R208W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.4569 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 93.9%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
|
| Allele List at MGI |
All alleles(34) : Gene trapped(34) |
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
A |
2: 19,482,667 (GRCm39) |
N475I |
probably damaging |
Het |
| Adar |
T |
C |
3: 89,647,290 (GRCm39) |
|
probably benign |
Het |
| Aldh3b3 |
A |
T |
19: 4,015,747 (GRCm39) |
|
probably null |
Het |
| Amtn |
C |
T |
5: 88,532,859 (GRCm39) |
T158I |
possibly damaging |
Het |
| Ap1g2 |
A |
G |
14: 55,337,868 (GRCm39) |
|
probably benign |
Het |
| Arhgef3 |
A |
G |
14: 27,119,584 (GRCm39) |
Y318C |
probably damaging |
Het |
| Atg2b |
A |
C |
12: 105,641,229 (GRCm39) |
V69G |
possibly damaging |
Het |
| Bbx |
G |
A |
16: 50,045,529 (GRCm39) |
T236I |
possibly damaging |
Het |
| Bcl11b |
C |
T |
12: 107,931,922 (GRCm39) |
|
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,889,377 (GRCm39) |
I794V |
probably benign |
Het |
| Ccdc88a |
C |
T |
11: 29,413,112 (GRCm39) |
|
probably benign |
Het |
| Cdhr3 |
C |
A |
12: 33,110,300 (GRCm39) |
R328L |
probably benign |
Het |
| Ces2e |
T |
A |
8: 105,656,496 (GRCm39) |
M242K |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,588,656 (GRCm39) |
|
probably benign |
Het |
| Col3a1 |
T |
C |
1: 45,360,686 (GRCm39) |
S39P |
unknown |
Het |
| Cplane1 |
A |
G |
15: 8,247,900 (GRCm39) |
|
probably benign |
Het |
| Cyp2a5 |
T |
A |
7: 26,538,298 (GRCm39) |
Y220* |
probably null |
Het |
| Dcc |
T |
A |
18: 71,475,776 (GRCm39) |
|
probably benign |
Het |
| Dnajb8 |
A |
G |
6: 88,200,036 (GRCm39) |
T191A |
probably damaging |
Het |
| Ephx2 |
A |
T |
14: 66,339,628 (GRCm39) |
F199I |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,551,619 (GRCm39) |
K1062E |
probably benign |
Het |
| Fbxo33 |
A |
G |
12: 59,251,285 (GRCm39) |
V410A |
probably benign |
Het |
| Gars1 |
T |
G |
6: 55,054,565 (GRCm39) |
|
probably null |
Het |
| Git1 |
A |
C |
11: 77,390,660 (GRCm39) |
D132A |
possibly damaging |
Het |
| Gp1ba |
C |
T |
11: 70,532,253 (GRCm39) |
P673L |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,002,203 (GRCm39) |
T44A |
unknown |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Ifnlr1 |
A |
G |
4: 135,428,640 (GRCm39) |
K156E |
possibly damaging |
Het |
| Klf13 |
T |
C |
7: 63,541,371 (GRCm39) |
N15S |
probably benign |
Het |
| Krt77 |
T |
C |
15: 101,769,561 (GRCm39) |
|
probably null |
Het |
| Ldc1 |
A |
G |
4: 130,115,417 (GRCm39) |
S44P |
probably damaging |
Het |
| Map4 |
C |
A |
9: 109,867,546 (GRCm39) |
|
probably benign |
Het |
| Mthfr |
T |
C |
4: 148,139,900 (GRCm39) |
I623T |
possibly damaging |
Het |
| Myo7b |
T |
A |
18: 32,116,997 (GRCm39) |
T908S |
probably benign |
Het |
| Nbeal2 |
T |
G |
9: 110,472,876 (GRCm39) |
|
probably benign |
Het |
| Nwd2 |
T |
G |
5: 63,957,757 (GRCm39) |
F362L |
probably benign |
Het |
| Pkd2l1 |
T |
C |
19: 44,138,909 (GRCm39) |
D647G |
probably benign |
Het |
| Plbd1 |
C |
T |
6: 136,618,145 (GRCm39) |
V24M |
probably damaging |
Het |
| Polr2a |
G |
A |
11: 69,625,943 (GRCm39) |
P1698S |
unknown |
Het |
| Prss12 |
T |
C |
3: 123,279,153 (GRCm39) |
I410T |
probably damaging |
Het |
| Ptpre |
A |
G |
7: 135,280,964 (GRCm39) |
N565S |
probably damaging |
Het |
| Rab44 |
T |
C |
17: 29,364,244 (GRCm39) |
L606P |
unknown |
Het |
| Rbm10 |
C |
T |
X: 20,503,903 (GRCm39) |
|
probably benign |
Het |
| Rhd |
C |
T |
4: 134,603,612 (GRCm39) |
|
probably benign |
Het |
| Rspo3 |
T |
A |
10: 29,375,917 (GRCm39) |
|
probably benign |
Het |
| Sdccag8 |
T |
A |
1: 176,773,710 (GRCm39) |
N555K |
probably benign |
Het |
| Skint6 |
T |
A |
4: 112,722,848 (GRCm39) |
|
probably benign |
Het |
| Slc22a20 |
G |
A |
19: 6,036,036 (GRCm39) |
P45S |
probably damaging |
Het |
| Slc5a2 |
A |
G |
7: 127,866,654 (GRCm39) |
Y124C |
probably damaging |
Het |
| Spats2l |
T |
C |
1: 57,925,043 (GRCm39) |
L127P |
possibly damaging |
Het |
| Taar8a |
T |
A |
10: 23,952,975 (GRCm39) |
I193N |
probably benign |
Het |
| Ten1 |
C |
T |
11: 116,107,510 (GRCm39) |
|
probably benign |
Het |
| Tfb2m |
T |
C |
1: 179,373,398 (GRCm39) |
E100G |
probably damaging |
Het |
| Tom1 |
C |
T |
8: 75,778,934 (GRCm39) |
|
probably benign |
Het |
| Vps52 |
G |
T |
17: 34,178,985 (GRCm39) |
R171L |
probably damaging |
Het |
| Zcwpw2 |
A |
T |
9: 117,843,182 (GRCm39) |
|
noncoding transcript |
Het |
| Zfhx4 |
G |
A |
3: 5,468,880 (GRCm39) |
E3013K |
probably damaging |
Het |
| Zfp267 |
G |
A |
3: 36,220,016 (GRCm39) |
D680N |
possibly damaging |
Het |
| Zfp777 |
C |
T |
6: 48,006,294 (GRCm39) |
V411M |
probably damaging |
Het |
|
| Other mutations in Pcm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00773:Pcm1
|
APN |
8 |
41,727,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00852:Pcm1
|
APN |
8 |
41,740,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00896:Pcm1
|
APN |
8 |
41,729,160 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL00927:Pcm1
|
APN |
8 |
41,740,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01085:Pcm1
|
APN |
8 |
41,762,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01684:Pcm1
|
APN |
8 |
41,710,960 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01888:Pcm1
|
APN |
8 |
41,710,993 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02349:Pcm1
|
APN |
8 |
41,741,192 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02562:Pcm1
|
APN |
8 |
41,778,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02807:Pcm1
|
APN |
8 |
41,783,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03081:Pcm1
|
APN |
8 |
41,728,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0090_Pcm1_148
|
UTSW |
8 |
41,709,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1534_pcm1_826
|
UTSW |
8 |
41,740,738 (GRCm39) |
missense |
probably benign |
|
|
R8169_pcm1_970
|
UTSW |
8 |
41,763,153 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
shaved
|
UTSW |
8 |
41,741,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
D3080:Pcm1
|
UTSW |
8 |
41,728,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0045:Pcm1
|
UTSW |
8 |
41,741,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0090:Pcm1
|
UTSW |
8 |
41,709,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0109:Pcm1
|
UTSW |
8 |
41,710,974 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0373:Pcm1
|
UTSW |
8 |
41,729,148 (GRCm39) |
nonsense |
probably null |
|
|
R0386:Pcm1
|
UTSW |
8 |
41,769,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Pcm1
|
UTSW |
8 |
41,778,942 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0498:Pcm1
|
UTSW |
8 |
41,746,806 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0528:Pcm1
|
UTSW |
8 |
41,768,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0587:Pcm1
|
UTSW |
8 |
41,739,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0635:Pcm1
|
UTSW |
8 |
41,720,216 (GRCm39) |
splice site |
probably benign |
|
|
R0725:Pcm1
|
UTSW |
8 |
41,740,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0848:Pcm1
|
UTSW |
8 |
41,735,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1027:Pcm1
|
UTSW |
8 |
41,746,482 (GRCm39) |
splice site |
probably benign |
|
|
R1056:Pcm1
|
UTSW |
8 |
41,774,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1534:Pcm1
|
UTSW |
8 |
41,740,738 (GRCm39) |
missense |
probably benign |
|
|
R1566:Pcm1
|
UTSW |
8 |
41,743,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1595:Pcm1
|
UTSW |
8 |
41,762,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1719:Pcm1
|
UTSW |
8 |
41,766,396 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1816:Pcm1
|
UTSW |
8 |
41,762,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2177:Pcm1
|
UTSW |
8 |
41,729,002 (GRCm39) |
missense |
probably benign |
|
|
R2495:Pcm1
|
UTSW |
8 |
41,746,616 (GRCm39) |
missense |
probably benign |
|
|
R3737:Pcm1
|
UTSW |
8 |
41,714,080 (GRCm39) |
nonsense |
probably null |
|
|
R3747:Pcm1
|
UTSW |
8 |
41,785,041 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3763:Pcm1
|
UTSW |
8 |
41,733,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3764:Pcm1
|
UTSW |
8 |
41,783,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3798:Pcm1
|
UTSW |
8 |
41,711,051 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3968:Pcm1
|
UTSW |
8 |
41,778,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4760:Pcm1
|
UTSW |
8 |
41,740,775 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4798:Pcm1
|
UTSW |
8 |
41,746,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5062:Pcm1
|
UTSW |
8 |
41,712,297 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5221:Pcm1
|
UTSW |
8 |
41,741,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5250:Pcm1
|
UTSW |
8 |
41,765,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5466:Pcm1
|
UTSW |
8 |
41,725,499 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5470:Pcm1
|
UTSW |
8 |
41,740,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5958:Pcm1
|
UTSW |
8 |
41,782,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6043:Pcm1
|
UTSW |
8 |
41,781,815 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6179:Pcm1
|
UTSW |
8 |
41,736,669 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6186:Pcm1
|
UTSW |
8 |
41,746,830 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6227:Pcm1
|
UTSW |
8 |
41,783,862 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6368:Pcm1
|
UTSW |
8 |
41,746,581 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6438:Pcm1
|
UTSW |
8 |
41,778,418 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6459:Pcm1
|
UTSW |
8 |
41,714,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7399:Pcm1
|
UTSW |
8 |
41,746,547 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7401:Pcm1
|
UTSW |
8 |
41,762,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7478:Pcm1
|
UTSW |
8 |
41,714,410 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7570:Pcm1
|
UTSW |
8 |
41,720,381 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7648:Pcm1
|
UTSW |
8 |
41,728,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7773:Pcm1
|
UTSW |
8 |
41,762,610 (GRCm39) |
nonsense |
probably null |
|
|
R7779:Pcm1
|
UTSW |
8 |
41,782,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7842:Pcm1
|
UTSW |
8 |
41,780,621 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7863:Pcm1
|
UTSW |
8 |
41,714,163 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8169:Pcm1
|
UTSW |
8 |
41,763,153 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8210:Pcm1
|
UTSW |
8 |
41,766,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Pcm1
|
UTSW |
8 |
41,736,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8397:Pcm1
|
UTSW |
8 |
41,736,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8489:Pcm1
|
UTSW |
8 |
41,766,437 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8519:Pcm1
|
UTSW |
8 |
41,728,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9136:Pcm1
|
UTSW |
8 |
41,732,825 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9245:Pcm1
|
UTSW |
8 |
41,732,877 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9263:Pcm1
|
UTSW |
8 |
41,732,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9406:Pcm1
|
UTSW |
8 |
41,728,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9412:Pcm1
|
UTSW |
8 |
41,740,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9541:Pcm1
|
UTSW |
8 |
41,780,616 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9698:Pcm1
|
UTSW |
8 |
41,723,541 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9716:Pcm1
|
UTSW |
8 |
41,728,168 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9747:Pcm1
|
UTSW |
8 |
41,757,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9781:Pcm1
|
UTSW |
8 |
41,720,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0025:Pcm1
|
UTSW |
8 |
41,783,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pcm1
|
UTSW |
8 |
41,740,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Pcm1
|
UTSW |
8 |
41,727,208 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTGTTCAGTACCCGGAAATCACG -3'
(R):5'- TGAGTCTACAGTCCGAACATCCTCC -3'
Sequencing Primer
(F):5'- GTACCCGGAAATCACGTAAAATAG -3'
(R):5'- AACTCGTCTGGAGTGACATC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation