Incidental Mutation 'IGL00091:Pspc1'
ID 959
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pspc1
Ensembl Gene ENSMUSG00000021938
Gene Name paraspeckle protein 1
Synonyms PSP1, 5730470C09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00091
Quality Score
Status
Chromosome 14
Chromosomal Location 56959898-57015775 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57009168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 222 (L222P)
Ref Sequence ENSEMBL: ENSMUSP00000133038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022507] [ENSMUST00000163924]
AlphaFold Q8R326
Predicted Effect probably damaging
Transcript: ENSMUST00000022507
AA Change: L222P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022507
Gene: ENSMUSG00000021938
AA Change: L222P

DomainStartEndE-ValueType
low complexity region 23 42 N/A INTRINSIC
RRM 82 149 8.91e-21 SMART
RRM 156 232 1.51e-9 SMART
low complexity region 298 310 N/A INTRINSIC
low complexity region 320 344 N/A INTRINSIC
low complexity region 350 376 N/A INTRINSIC
low complexity region 417 430 N/A INTRINSIC
low complexity region 433 452 N/A INTRINSIC
low complexity region 494 516 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163924
AA Change: L222P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133038
Gene: ENSMUSG00000021938
AA Change: L222P

DomainStartEndE-ValueType
low complexity region 23 42 N/A INTRINSIC
RRM 82 149 8.91e-21 SMART
RRM 156 232 1.51e-9 SMART
low complexity region 298 310 N/A INTRINSIC
low complexity region 320 344 N/A INTRINSIC
low complexity region 350 376 N/A INTRINSIC
low complexity region 417 430 N/A INTRINSIC
low complexity region 433 452 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168575
SMART Domains Protein: ENSMUSP00000125780
Gene: ENSMUSG00000021938

DomainStartEndE-ValueType
RRM 5 56 2.12e-4 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleolar protein that localizes to punctate subnuclear structures that occur close to splicing speckles, known as paraspeckles. These paraspeckles are composed of RNA-protein structures that include a non-coding RNA, NEAT1/Men epsilon/beta, and the Drosophila Behavior Human Splicing family of proteins, which include the product of this gene and the P54NRB/NONO and PSF/SFPQ proteins. Paraspeckles may function in the control of gene expression via an RNA nuclear retention mechanism. The protein encoded by this gene is found in paraspeckles in transcriptionally active cells, but it localizes to unique cap structures at the nucleolar periphery when RNA polymerase II transcription is inhibited, or during telophase. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene, which is also located on chromosome 13, has been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a gene trap allele do not display any gross abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A T 7: 132,485,157 (GRCm39) Y400F probably benign Het
Adamts8 C A 9: 30,864,796 (GRCm39) T429K probably damaging Het
Adgrv1 C T 13: 81,726,220 (GRCm39) D602N probably damaging Het
Ano7 A T 1: 93,329,888 (GRCm39) H775L probably benign Het
Apoo-ps A T 13: 107,551,134 (GRCm39) noncoding transcript Het
Arid2 T C 15: 96,270,183 (GRCm39) V1432A probably benign Het
Atoh1 T C 6: 64,706,568 (GRCm39) S88P possibly damaging Het
C130050O18Rik A G 5: 139,400,601 (GRCm39) E218G probably damaging Het
Cacna2d1 T A 5: 16,417,942 (GRCm39) F155L probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Cyp1a2 G T 9: 57,589,352 (GRCm39) S154* probably null Het
Cyp3a25 A T 5: 145,938,273 (GRCm39) Y68* probably null Het
Dmbt1 C A 7: 130,681,270 (GRCm39) probably benign Het
Dnajc22 T A 15: 98,999,059 (GRCm39) F81L possibly damaging Het
Eml5 G A 12: 98,839,468 (GRCm39) probably benign Het
Fpgs A T 2: 32,576,559 (GRCm39) probably benign Het
Gab2 T C 7: 96,951,650 (GRCm39) S537P possibly damaging Het
Gmds G A 13: 32,418,373 (GRCm39) S37L probably damaging Het
Ipo13 T C 4: 117,760,602 (GRCm39) E626G probably benign Het
Kcng1 T C 2: 168,110,684 (GRCm39) H160R probably benign Het
Lama3 A G 18: 12,713,349 (GRCm39) T1608A probably benign Het
Lama4 A C 10: 38,948,801 (GRCm39) S855R probably damaging Het
Ltbp1 C T 17: 75,532,333 (GRCm39) H454Y probably damaging Het
Map3k14 C A 11: 103,118,405 (GRCm39) G594C probably damaging Het
Mcph1 A G 8: 18,682,636 (GRCm39) N591S possibly damaging Het
Moxd1 G A 10: 24,155,762 (GRCm39) V289I probably damaging Het
Mptx2 T G 1: 173,102,455 (GRCm39) N78T probably damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Muc6 A C 7: 141,218,497 (GRCm39) S2059A probably benign Het
Nup50 T A 15: 84,819,605 (GRCm39) F293Y probably benign Het
Ogn A G 13: 49,774,514 (GRCm39) Y219C probably damaging Het
Pdia3 T C 2: 121,244,659 (GRCm39) L47P probably damaging Het
Piwil4 A T 9: 14,614,393 (GRCm39) D786E probably damaging Het
Ptchd3 T A 11: 121,721,972 (GRCm39) Y282N probably damaging Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Serpini2 T C 3: 75,156,549 (GRCm39) Y327C probably damaging Het
Spire2 A G 8: 124,080,798 (GRCm39) D14G probably damaging Het
Stab2 A T 10: 86,705,070 (GRCm39) probably null Het
Timeless T C 10: 128,077,577 (GRCm39) L219P probably damaging Het
Tmem63a C T 1: 180,790,653 (GRCm39) T437M probably damaging Het
Tslp A G 18: 32,948,448 (GRCm39) probably benign Het
Ttbk2 C A 2: 120,579,314 (GRCm39) G534* probably null Het
Uggt1 T C 1: 36,218,633 (GRCm39) probably benign Het
Vmn2r118 T C 17: 55,899,708 (GRCm39) E732G probably damaging Het
Zfhx2 G A 14: 55,304,022 (GRCm39) P1321S possibly damaging Het
Zfp58 A G 13: 67,639,114 (GRCm39) V459A probably benign Het
Zfp831 T C 2: 174,487,451 (GRCm39) S709P possibly damaging Het
Other mutations in Pspc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02281:Pspc1 APN 14 56,960,635 (GRCm39) missense probably benign
IGL02954:Pspc1 APN 14 57,009,217 (GRCm39) missense probably benign 0.17
IGL02989:Pspc1 APN 14 57,009,153 (GRCm39) intron probably benign
Erudite UTSW 14 56,999,305 (GRCm39) missense probably damaging 0.96
perspicacious UTSW 14 57,009,304 (GRCm39) nonsense probably null
R1549:Pspc1 UTSW 14 56,986,398 (GRCm39) missense probably damaging 1.00
R1696:Pspc1 UTSW 14 57,001,700 (GRCm39) missense probably benign 0.02
R4574:Pspc1 UTSW 14 56,999,404 (GRCm39) missense possibly damaging 0.91
R4599:Pspc1 UTSW 14 57,015,246 (GRCm39) critical splice donor site probably null
R5132:Pspc1 UTSW 14 56,960,707 (GRCm39) missense probably benign 0.09
R5243:Pspc1 UTSW 14 57,001,648 (GRCm39) missense probably damaging 1.00
R5519:Pspc1 UTSW 14 57,009,413 (GRCm39) missense probably benign 0.11
R5610:Pspc1 UTSW 14 57,015,388 (GRCm39) missense probably damaging 1.00
R5724:Pspc1 UTSW 14 57,015,529 (GRCm39) missense probably benign 0.01
R5867:Pspc1 UTSW 14 56,999,498 (GRCm39) splice site probably null
R5968:Pspc1 UTSW 14 57,001,693 (GRCm39) missense probably benign 0.14
R6544:Pspc1 UTSW 14 57,001,660 (GRCm39) makesense probably null
R7034:Pspc1 UTSW 14 56,996,085 (GRCm39) critical splice donor site probably null
R7036:Pspc1 UTSW 14 56,996,085 (GRCm39) critical splice donor site probably null
R7961:Pspc1 UTSW 14 57,009,304 (GRCm39) nonsense probably null
R8009:Pspc1 UTSW 14 57,009,304 (GRCm39) nonsense probably null
R8184:Pspc1 UTSW 14 57,001,700 (GRCm39) missense probably benign 0.02
R8221:Pspc1 UTSW 14 57,015,616 (GRCm39) start codon destroyed probably benign 0.01
R9166:Pspc1 UTSW 14 56,999,305 (GRCm39) missense probably damaging 0.96
X0065:Pspc1 UTSW 14 56,962,872 (GRCm39) missense possibly damaging 0.79
Z1177:Pspc1 UTSW 14 56,986,332 (GRCm39) missense probably damaging 0.96
Posted On 2011-07-12