Mutagenetix > Incidental Mutation

Incidental Mutation 'R1549:Pspc1'

169802

Institutional Source

Beutler Lab

Gene Symbol

Pspc1

Ensembl Gene

ENSMUSG00000021938

Gene Name

paraspeckle protein 1

Synonyms

PSP1, 5730470C09Rik

MMRRC Submission

039588-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1549 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56959898-57015775 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 56986398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 351 (H351P)

Ref Sequence

ENSEMBL: ENSMUSP00000022507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022507] [ENSMUST00000163924]

AlphaFold

Q8R326

Predicted Effect

probably damaging
Transcript: ENSMUST00000022507
AA Change: H351P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022507
Gene: ENSMUSG00000021938
AA Change: H351P

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 damaging
Transcript: ENSMUST00000163924
AA Change: H351P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133038
Gene: ENSMUSG00000021938
AA Change: H351P

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

noncoding transcript
Transcript: ENSMUST00000168524

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

Meta Mutation Damage Score

0.3421

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 90.8%

Validation Efficiency

97% (58/60)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,210,441 (GRCm39)	I157K	probably benign	Het
Ank3	A	T	10: 69,837,812 (GRCm39)	N727Y	probably benign	Het
Atg16l1	A	G	1: 87,701,910 (GRCm39)	T251A	probably benign	Het
Bcl11b	T	A	12: 107,883,422 (GRCm39)	I226F	probably damaging	Het
Birc6	A	G	17: 74,969,737 (GRCm39)	H4260R	probably damaging	Het
Camta1	A	G	4: 151,670,920 (GRCm39)	I85T	probably damaging	Het
Cblb	A	G	16: 51,853,373 (GRCm39)		probably benign	Het
Ccnd1	T	G	7: 144,491,073 (GRCm39)	I178L	probably benign	Het
Clcn4	A	G	7: 7,294,681 (GRCm39)	V329A	probably damaging	Het
Col17a1	C	T	19: 47,637,349 (GRCm39)		probably benign	Het
Col7a1	A	G	9: 108,785,034 (GRCm39)	T254A	unknown	Het
Ctif	C	A	18: 75,698,096 (GRCm39)	R188L	probably damaging	Het
Cyp2c69	A	T	19: 39,831,430 (GRCm39)	L461Q	probably benign	Het
Ddc	A	G	11: 11,796,656 (GRCm39)		probably null	Het
Dpp10	T	A	1: 123,269,109 (GRCm39)		probably null	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Eif2b4	T	C	5: 31,350,265 (GRCm39)	E19G	possibly damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Galnt14	A	G	17: 73,832,308 (GRCm39)	L269P	possibly damaging	Het
Gm2381	T	A	7: 42,471,825 (GRCm39)	H18L	probably benign	Het
Gpbp1	G	T	13: 111,573,113 (GRCm39)	D326E	probably benign	Het
Gpr162	C	T	6: 124,837,051 (GRCm39)	R331H	probably damaging	Het
Iigp1	G	A	18: 60,522,948 (GRCm39)	G22D	probably benign	Het
Kcns3	T	C	12: 11,142,084 (GRCm39)	H205R	probably damaging	Het
Klk1b26	C	T	7: 43,665,826 (GRCm39)		probably benign	Het
Lime1	A	G	2: 181,025,169 (GRCm39)	Y242C	probably benign	Het
Manba	A	G	3: 135,250,567 (GRCm39)	D398G	probably damaging	Het
Mapk3	A	T	7: 126,362,684 (GRCm39)	K219*	probably null	Het
Mdfic	G	T	6: 15,799,844 (GRCm39)	G324C	probably damaging	Het
Mdga1	G	A	17: 30,056,972 (GRCm39)	H837Y	probably damaging	Het
Nck1	T	A	9: 100,379,925 (GRCm39)	M109L	probably benign	Het
Or1d2	A	G	11: 74,256,076 (GRCm39)	I194V	probably benign	Het
Or2w1b	T	C	13: 21,300,288 (GRCm39)	V142A	probably benign	Het
Pabpc1l	G	T	2: 163,879,091 (GRCm39)	V313F	possibly damaging	Het
Phf3	C	T	1: 30,843,923 (GRCm39)	V1679I	probably benign	Het
Pou4f1	T	C	14: 104,705,076 (GRCm39)	I32V	probably benign	Het
Ptk7	T	C	17: 46,883,578 (GRCm39)	E829G	probably damaging	Het
Rab23	A	G	1: 33,777,378 (GRCm39)	Y164C	possibly damaging	Het
Slc36a3	A	G	11: 55,033,596 (GRCm39)	W141R	probably damaging	Het
Slc7a14	T	C	3: 31,278,267 (GRCm39)	E446G	possibly damaging	Het
Stim2	G	A	5: 54,262,667 (GRCm39)	R303Q	probably damaging	Het
Tbcd	A	G	11: 121,451,579 (GRCm39)	I550V	probably benign	Het
Tmed3	A	C	9: 89,581,998 (GRCm39)	L155R	probably damaging	Het
Trav16d-dv11	A	G	14: 53,284,799 (GRCm39)		probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Usp16	G	T	16: 87,261,722 (GRCm39)	V113F	probably damaging	Het
Vmn2r12	T	G	5: 109,240,696 (GRCm39)	Y139S	probably benign	Het
Vmn2r5	G	T	3: 64,411,421 (GRCm39)	D382E	probably damaging	Het
Zfp1010	T	C	2: 176,957,378 (GRCm39)	E40G	probably damaging	Het
Zfp217	A	C	2: 169,956,390 (GRCm39)	N869K	probably benign	Het
Zswim2	G	T	2: 83,754,092 (GRCm39)	D189E	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
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

Predicted Primers

PCR Primer
(F):5'- AGGTAGAGCTGATGCTCATATCAAGGT -3'
(R):5'- TGCCATAAGCAGCCCTCAGTCA -3'

Sequencing Primer
(F):5'- GCTCATATCAAGGTATCCTACGAAG -3'
(R):5'- GCAGCCCTCAGTCACAGAC -3'

Posted On

2014-04-13