Incidental Mutation 'IGL01085:Pcm1'
ID 51736
Institutional Source Australian Phenomics Network (link to record)
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) question?
Stock # IGL01085
Quality Score
Status
Chromosome 8
Chromosomal Location 41692789-41785381 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41762640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1395 (S1395P)
Ref Sequence ENSEMBL: ENSMUSP00000039709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045218] [ENSMUST00000211247]
AlphaFold Q9R0L6
Predicted Effect probably damaging
Transcript: ENSMUST00000045218
AA Change: S1395P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039709
Gene: ENSMUSG00000031592
AA Change: S1395P

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000211247
AA Change: S1434P

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 59,944,763 (GRCm39) probably benign Het
Acp7 T C 7: 28,310,478 (GRCm39) Y453C probably damaging Het
Bop1 T C 15: 76,337,576 (GRCm39) D683G probably damaging Het
Cacna1b G T 2: 24,569,006 (GRCm39) R974S probably damaging Het
Ceacam23 A T 7: 17,649,616 (GRCm39) H729L possibly damaging Het
Cenpt T C 8: 106,573,297 (GRCm39) E350G possibly damaging Het
Cep112 G T 11: 108,377,432 (GRCm39) R270L probably damaging Het
Crem T C 18: 3,299,236 (GRCm39) T26A probably damaging Het
Crot T C 5: 9,023,955 (GRCm39) H387R probably damaging Het
Fdxr A T 11: 115,160,402 (GRCm39) V351E probably benign Het
Fkbpl T C 17: 34,864,718 (GRCm39) L162P probably damaging Het
Fmn2 T A 1: 174,523,220 (GRCm39) N1358K probably damaging Het
Hectd4 G T 5: 121,469,764 (GRCm39) G2553V probably damaging Het
Ifna16 A T 4: 88,594,969 (GRCm39) I42K probably benign Het
Igfals C T 17: 25,100,634 (GRCm39) T575I probably benign Het
Il6 G T 5: 30,218,487 (GRCm39) V28F probably damaging Het
Irx1 A G 13: 72,107,816 (GRCm39) S289P probably benign Het
Ncoa2 T C 1: 13,219,303 (GRCm39) T1245A possibly damaging Het
Nr3c2 G T 8: 77,634,983 (GRCm39) R28L probably benign Het
Nudt5 G A 2: 5,869,238 (GRCm39) V155I probably benign Het
Or9s13 G T 1: 92,547,921 (GRCm39) V98F possibly damaging Het
Pkhd1l1 G A 15: 44,426,148 (GRCm39) probably null Het
Prodh A T 16: 17,894,208 (GRCm39) V339E probably damaging Het
Rbm48 C T 5: 3,634,762 (GRCm39) V401M probably benign Het
Retreg3 G A 11: 100,991,751 (GRCm39) Q61* probably null Het
Rif1 A G 2: 51,975,152 (GRCm39) M354V possibly damaging Het
Rrn3 G A 16: 13,626,926 (GRCm39) V507M probably damaging Het
Safb2 T A 17: 56,872,242 (GRCm39) R197* probably null Het
Slc22a26 A G 19: 7,767,464 (GRCm39) V314A probably benign Het
Slfnl1 G T 4: 120,390,553 (GRCm39) R68L probably damaging Het
Spata1 G T 3: 146,181,997 (GRCm39) Q10K possibly damaging Het
Swi5 T C 2: 32,170,739 (GRCm39) M95V possibly damaging Het
Thpo T C 16: 20,547,205 (GRCm39) D52G probably damaging Het
Tmem101 A T 11: 102,045,486 (GRCm39) L121Q probably damaging Het
Trim40 T C 17: 37,194,133 (GRCm39) I187V probably benign Het
Usp33 A G 3: 152,074,206 (GRCm39) K351E possibly damaging Het
Uvrag T C 7: 98,767,431 (GRCm39) T67A probably damaging Het
Vcan T C 13: 89,828,077 (GRCm39) D2163G probably damaging Het
Wnt7a C T 6: 91,385,771 (GRCm39) V61I probably benign Het
Zfp804b A G 5: 6,820,931 (GRCm39) S675P probably damaging Het
Other mutations in Pcm1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2013-06-21