Incidental Mutation 'R5132:Pspc1'
ID |
395884 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pspc1
|
Ensembl Gene |
ENSMUSG00000021938 |
Gene Name |
paraspeckle protein 1 |
Synonyms |
PSP1, 5730470C09Rik |
MMRRC Submission |
042720-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5132 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
56959898-57015775 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 56960707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 473
(S473T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022507]
[ENSMUST00000163924]
|
AlphaFold |
Q8R326 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022507
AA Change: S473T
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000022507 Gene: ENSMUSG00000021938 AA Change: S473T
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000163924
|
SMART Domains |
Protein: ENSMUSP00000133038 Gene: ENSMUSG00000021938
Domain | Start | End | E-Value | Type |
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 |
|
Meta Mutation Damage Score |
0.0691 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (41/41) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl2 |
A |
T |
1: 156,469,402 (GRCm39) |
K785* |
probably null |
Het |
Acad11 |
A |
T |
9: 104,003,791 (GRCm39) |
I628L |
probably benign |
Het |
Ago1 |
T |
C |
4: 126,355,516 (GRCm39) |
I98V |
probably benign |
Het |
Bach2 |
A |
G |
4: 32,563,396 (GRCm39) |
|
probably benign |
Het |
Calr3 |
C |
T |
8: 73,185,212 (GRCm39) |
|
probably null |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Cdc42ep3 |
C |
T |
17: 79,642,803 (GRCm39) |
R39H |
probably damaging |
Het |
Cyp2j5 |
T |
C |
4: 96,517,733 (GRCm39) |
Y493C |
probably damaging |
Het |
Ddx19b |
A |
T |
8: 111,749,040 (GRCm39) |
D66E |
probably benign |
Het |
Drosha |
A |
G |
15: 12,837,377 (GRCm39) |
D287G |
unknown |
Het |
Gm8888 |
A |
G |
15: 96,664,892 (GRCm39) |
|
noncoding transcript |
Het |
Gpr25 |
G |
T |
1: 136,188,103 (GRCm39) |
A170E |
probably damaging |
Het |
Gria1 |
A |
G |
11: 57,180,225 (GRCm39) |
Y656C |
probably damaging |
Het |
Grik5 |
C |
T |
7: 24,764,629 (GRCm39) |
V145I |
probably benign |
Het |
Htt |
T |
C |
5: 35,063,023 (GRCm39) |
V2885A |
possibly damaging |
Het |
Larp6 |
A |
G |
9: 60,644,493 (GRCm39) |
E211G |
probably damaging |
Het |
Magi1 |
C |
A |
6: 93,660,072 (GRCm39) |
|
probably null |
Het |
Mtbp |
A |
G |
15: 55,421,965 (GRCm39) |
S63G |
possibly damaging |
Het |
Ndor1 |
A |
T |
2: 25,137,781 (GRCm39) |
S513T |
probably benign |
Het |
Nsd3 |
A |
G |
8: 26,168,855 (GRCm39) |
D670G |
possibly damaging |
Het |
Or10ag56 |
A |
T |
2: 87,139,282 (GRCm39) |
M50L |
probably damaging |
Het |
Or4k49 |
T |
A |
2: 111,495,344 (GRCm39) |
Y258N |
probably damaging |
Het |
Or5e1 |
T |
C |
7: 108,354,477 (GRCm39) |
V138A |
probably damaging |
Het |
Pcdh7 |
T |
C |
5: 57,885,463 (GRCm39) |
V1061A |
probably benign |
Het |
Pdia4 |
A |
G |
6: 47,773,669 (GRCm39) |
I560T |
probably benign |
Het |
Pomt2 |
A |
G |
12: 87,157,121 (GRCm39) |
F733L |
probably damaging |
Het |
Pprc1 |
T |
C |
19: 46,061,121 (GRCm39) |
|
probably benign |
Het |
Prkca |
T |
C |
11: 108,082,943 (GRCm39) |
|
probably benign |
Het |
Rgs12 |
A |
G |
5: 35,147,156 (GRCm39) |
|
probably benign |
Het |
Scn3a |
C |
T |
2: 65,298,548 (GRCm39) |
V1384I |
probably benign |
Het |
Serpinb6a |
C |
T |
13: 34,102,305 (GRCm39) |
D307N |
probably benign |
Het |
Smap2 |
T |
C |
4: 120,830,370 (GRCm39) |
E255G |
possibly damaging |
Het |
Spmip6 |
A |
G |
4: 41,517,178 (GRCm39) |
|
probably benign |
Het |
St7 |
A |
T |
6: 17,854,956 (GRCm39) |
I298F |
probably damaging |
Het |
Tgm7 |
A |
G |
2: 120,934,700 (GRCm39) |
F93L |
probably damaging |
Het |
Timm23 |
A |
T |
14: 31,915,902 (GRCm39) |
D56E |
probably damaging |
Het |
Tmem170 |
A |
T |
8: 112,596,357 (GRCm39) |
M56K |
probably benign |
Het |
|
Other mutations in Pspc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00091:Pspc1
|
APN |
14 |
57,009,168 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGACATGGTGTAAAGACATACCATTG -3'
(R):5'- TGGCATAAGGAGGCATTTGC -3'
Sequencing Primer
(F):5'- TTTCTAAACAGTCAGGAATGAACC -3'
(R):5'- CATAAGGAGGCATTTGCTTATGTCAG -3'
|
Posted On |
2016-06-21 |