Incidental Mutation 'R5519:Pspc1'
| ID |
431474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pspc1
|
| Ensembl Gene |
ENSMUSG00000021938 |
| Gene Name |
paraspeckle protein 1 |
| Synonyms |
PSP1, 5730470C09Rik |
| MMRRC Submission |
043078-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5519 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
56959898-57015775 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57009413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 140
(I140M)
|
| 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: I140M
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000022507
Gene: ENSMUSG00000021938
AA Change: I140M
| 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
AA Change: I140M
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000133038
Gene: ENSMUSG00000021938
AA Change: I140M
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168575
|
| SMART Domains |
Protein: ENSMUSP00000125780
Gene: ENSMUSG00000021938
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
5 |
56 |
2.12e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 94.7%
- 20x: 88.5%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067K01Rik |
T |
C |
8: 84,729,621 (GRCm39) |
V99A |
possibly damaging |
Het |
| 2510009E07Rik |
A |
G |
16: 21,472,218 (GRCm39) |
S91P |
probably benign |
Het |
| 2810021J22Rik |
G |
A |
11: 58,770,923 (GRCm39) |
S135N |
probably benign |
Het |
| A530084C06Rik |
T |
C |
13: 31,742,702 (GRCm39) |
|
probably benign |
Het |
| Acadsb |
T |
C |
7: 131,031,694 (GRCm39) |
S177P |
probably damaging |
Het |
| Acp3 |
C |
A |
9: 104,168,687 (GRCm39) |
G393W |
probably damaging |
Het |
| Axl |
G |
A |
7: 25,478,087 (GRCm39) |
A204V |
possibly damaging |
Het |
| Birc6 |
A |
T |
17: 74,887,173 (GRCm39) |
M806L |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,255,700 (GRCm39) |
L861P |
probably damaging |
Het |
| Cfap44 |
A |
T |
16: 44,224,451 (GRCm39) |
D53V |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,269,335 (GRCm39) |
|
probably null |
Het |
| Ctf2 |
T |
A |
7: 127,318,463 (GRCm39) |
I179L |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Emilin2 |
G |
A |
17: 71,559,930 (GRCm39) |
P1016S |
probably benign |
Het |
| Gm12790 |
G |
A |
4: 101,824,888 (GRCm39) |
P127S |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,494,857 (GRCm39) |
V24E |
probably damaging |
Het |
| Ipp |
T |
C |
4: 116,367,964 (GRCm39) |
F66L |
possibly damaging |
Het |
| Jakmip3 |
T |
C |
7: 138,609,520 (GRCm39) |
I208T |
probably damaging |
Het |
| Med30 |
G |
T |
15: 52,584,462 (GRCm39) |
D127Y |
probably damaging |
Het |
| Mosmo |
C |
T |
7: 120,329,733 (GRCm39) |
P118L |
probably benign |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Or51a42 |
G |
A |
7: 103,708,504 (GRCm39) |
Q102* |
probably null |
Het |
| Padi2 |
A |
G |
4: 140,676,533 (GRCm39) |
D557G |
probably damaging |
Het |
| Pde11a |
T |
A |
2: 75,906,299 (GRCm39) |
K639N |
probably damaging |
Het |
| Rundc3a |
A |
T |
11: 102,292,857 (GRCm39) |
I417F |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,162,557 (GRCm39) |
I230F |
probably damaging |
Het |
| Serpinb3b |
A |
G |
1: 107,087,506 (GRCm39) |
M1T |
probably null |
Het |
| Sin3a |
T |
C |
9: 57,025,457 (GRCm39) |
|
probably null |
Het |
| St8sia1 |
T |
C |
6: 142,909,287 (GRCm39) |
N70D |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Tpm2 |
T |
G |
4: 43,522,751 (GRCm39) |
D55A |
possibly damaging |
Het |
| Trdv1 |
T |
A |
14: 54,119,405 (GRCm39) |
M22K |
probably benign |
Het |
| Zc3h4 |
A |
T |
7: 16,169,157 (GRCm39) |
T1089S |
unknown |
Het |
| Zfp518b |
G |
A |
5: 38,831,441 (GRCm39) |
T188M |
probably damaging |
Het |
| Zfp74 |
G |
T |
7: 29,634,559 (GRCm39) |
A383D |
probably damaging |
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 |
|
|
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 |
|
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'- AGGAGGTTTCGCTGCAAATTC -3'
(R):5'- GCATAGTAAATCATGTGATGCCAAG -3'
Sequencing Primer
(F):5'- GGTTTCGCTGCAAATTCTACAAAACC -3'
(R):5'- TCATGTGATGCCAAGGTTAAAGATG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation