Incidental Mutation 'R3747:Pcm1'
| ID |
309868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcm1
|
| Ensembl Gene |
ENSMUSG00000031592 |
| Gene Name |
pericentriolar material 1 |
| Synonyms |
9430077F19Rik, C030044G17Rik, 2600002H09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3747 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
41692789-41785381 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41785041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 2064
(I2064T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045218]
[ENSMUST00000211247]
|
| AlphaFold |
Q9R0L6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045218
AA Change: I2025T
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000039709
Gene: ENSMUSG00000031592
AA Change: I2025T
| 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: ENSMUST00000211247
AA Change: I2064T
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
| Abhd18 |
A |
G |
3: 40,888,008 (GRCm39) |
N284S |
probably benign |
Het |
| Adam12 |
T |
C |
7: 133,774,594 (GRCm39) |
D5G |
probably damaging |
Het |
| Adam26b |
A |
C |
8: 43,974,234 (GRCm39) |
V256G |
probably benign |
Het |
| Aga |
T |
A |
8: 53,970,856 (GRCm39) |
I192N |
probably benign |
Het |
| Ago1 |
A |
G |
4: 126,354,837 (GRCm39) |
I125T |
probably benign |
Het |
| Alk |
A |
G |
17: 72,218,560 (GRCm39) |
S762P |
probably damaging |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Cby3 |
T |
C |
11: 50,250,501 (GRCm39) |
*236R |
probably null |
Het |
| Cfhr1 |
C |
A |
1: 139,485,372 (GRCm39) |
|
probably null |
Het |
| Clcn1 |
T |
A |
6: 42,276,849 (GRCm39) |
Y393N |
probably damaging |
Het |
| Cx3cr1 |
T |
C |
9: 119,881,132 (GRCm39) |
H90R |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,378,881 (GRCm39) |
K380M |
probably damaging |
Het |
| Cyp4v3 |
G |
A |
8: 45,768,745 (GRCm39) |
R272* |
probably null |
Het |
| Dazap1 |
C |
T |
10: 80,123,498 (GRCm39) |
R391C |
possibly damaging |
Het |
| Dgkh |
T |
A |
14: 78,821,885 (GRCm39) |
E876V |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 31,003,148 (GRCm39) |
K3616* |
probably null |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Fam221a |
A |
G |
6: 49,349,630 (GRCm39) |
D2G |
probably damaging |
Het |
| Fam43a |
C |
T |
16: 30,420,664 (GRCm39) |
T416I |
probably benign |
Het |
| Fam90a1a |
C |
A |
8: 22,453,221 (GRCm39) |
S192* |
probably null |
Het |
| Foxd1 |
G |
C |
13: 98,492,424 (GRCm39) |
A433P |
unknown |
Het |
| Garin4 |
T |
G |
1: 190,896,207 (GRCm39) |
Q145H |
probably damaging |
Het |
| Gm10152 |
G |
A |
7: 144,316,937 (GRCm39) |
|
probably null |
Het |
| Hipk3 |
T |
A |
2: 104,271,628 (GRCm39) |
R435* |
probably null |
Het |
| Hnrnpab |
T |
A |
11: 51,493,473 (GRCm39) |
Y245F |
probably benign |
Het |
| Islr2 |
A |
T |
9: 58,106,925 (GRCm39) |
S112T |
probably benign |
Het |
| Itgb7 |
A |
T |
15: 102,131,212 (GRCm39) |
V280D |
probably damaging |
Het |
| Kndc1 |
G |
A |
7: 139,507,817 (GRCm39) |
|
probably null |
Het |
| Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
| Mroh2b |
G |
A |
15: 4,981,728 (GRCm39) |
W1513* |
probably null |
Het |
| Nbeal1 |
A |
G |
1: 60,234,182 (GRCm39) |
D51G |
probably damaging |
Het |
| Ncoa6 |
G |
A |
2: 155,253,561 (GRCm39) |
P939L |
probably benign |
Het |
| Ndst3 |
A |
G |
3: 123,465,201 (GRCm39) |
I257T |
probably benign |
Het |
| Nolc1 |
CAG |
CAGAAG |
19: 46,069,795 (GRCm39) |
|
probably benign |
Het |
| Nuf2 |
T |
A |
1: 169,352,945 (GRCm39) |
N20I |
probably damaging |
Het |
| Osbpl7 |
T |
C |
11: 96,946,879 (GRCm39) |
V223A |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,810,435 (GRCm39) |
R90G |
possibly damaging |
Het |
| Pkdrej |
T |
A |
15: 85,705,278 (GRCm39) |
K219N |
probably damaging |
Het |
| Ppil4 |
A |
T |
10: 7,690,457 (GRCm39) |
Q370L |
probably benign |
Het |
| Pramel18 |
T |
A |
4: 101,767,073 (GRCm39) |
D107E |
possibly damaging |
Het |
| Primpol |
A |
T |
8: 47,052,848 (GRCm39) |
D154E |
probably benign |
Het |
| Rb1cc1 |
T |
G |
1: 6,318,966 (GRCm39) |
V778G |
possibly damaging |
Het |
| Sgms1 |
A |
T |
19: 32,136,994 (GRCm39) |
S191T |
possibly damaging |
Het |
| Sned1 |
T |
A |
1: 93,189,473 (GRCm39) |
F303Y |
probably damaging |
Het |
| Sp9 |
T |
A |
2: 73,104,652 (GRCm39) |
M402K |
probably damaging |
Het |
| Spon1 |
T |
C |
7: 113,365,621 (GRCm39) |
L19P |
probably damaging |
Het |
| Spon1 |
T |
A |
7: 113,616,024 (GRCm39) |
V297E |
possibly damaging |
Het |
| Tlr5 |
T |
C |
1: 182,802,004 (GRCm39) |
I436T |
probably benign |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Tpcn2 |
T |
C |
7: 144,809,260 (GRCm39) |
H682R |
probably damaging |
Het |
| Ugt1a6a |
T |
C |
1: 88,066,871 (GRCm39) |
Y226H |
probably damaging |
Het |
| Upf1 |
G |
T |
8: 70,786,000 (GRCm39) |
N975K |
possibly damaging |
Het |
| Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
| Vmn1r39 |
T |
C |
6: 66,781,854 (GRCm39) |
N155D |
probably benign |
Het |
| Vwa5b2 |
A |
G |
16: 20,417,076 (GRCm39) |
|
probably benign |
Het |
| Yipf4 |
G |
A |
17: 74,803,667 (GRCm39) |
|
probably null |
Het |
| Zdhhc17 |
T |
C |
10: 110,780,281 (GRCm39) |
I624M |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
| Zswim4 |
G |
A |
8: 84,938,676 (GRCm39) |
P1069S |
possibly 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 |
|
R0762:Pcm1
|
UTSW |
8 |
41,714,057 (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 |
|
|
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'- TTGGTTGGCCTCCCATCATG -3'
(R):5'- GGTTTGAATCTGTCCAGGATTC -3'
Sequencing Primer
(F):5'- GGTTGGCCTCCCATCATGAAAAAC -3'
(R):5'- TCTGTCCAGGATTCAGATTCTAATG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation