Mutagenetix > Incidental Mutation

Incidental Mutation 'R4574:Pspc1'

342353

Institutional Source

Beutler Lab

Gene Symbol

Pspc1

Ensembl Gene

ENSMUSG00000021938

Gene Name

paraspeckle protein 1

Synonyms

PSP1, 5730470C09Rik

MMRRC Submission

041797-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4574 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56959898-57015775 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56999404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 284 (M284K)

Ref Sequence

ENSEMBL: ENSMUSP00000022507 (fasta)

Gene Model

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

AlphaFold

Q8R326

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022507
AA Change: M284K

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022507
Gene: ENSMUSG00000021938
AA Change: M284K

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

possibly damaging
Transcript: ENSMUST00000163924
AA Change: M284K

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133038
Gene: ENSMUSG00000021938
AA Change: M284K

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

0.1831

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (63/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	A	C	5: 121,638,856 (GRCm39)	S730A	probably benign	Het
Adamts9	G	A	6: 92,856,940 (GRCm39)	R319*	probably null	Het
Anapc1	G	T	2: 128,469,115 (GRCm39)	S1575R	probably damaging	Het
Appbp2	A	T	11: 85,100,764 (GRCm39)		probably null	Het
Bcas2	C	T	3: 103,081,666 (GRCm39)	P90S	probably benign	Het
Carmil3	GGACGA	GGA	14: 55,736,933 (GRCm39)		probably benign	Het
Cd101	T	C	3: 100,920,469 (GRCm39)	N477D	probably benign	Het
Cdk12	A	G	11: 98,111,814 (GRCm39)		probably benign	Het
Clcn4	T	C	7: 7,290,804 (GRCm39)	E634G	probably benign	Het
Cltb	C	T	13: 54,746,574 (GRCm39)	R64H	probably damaging	Het
Cpt1b	G	T	15: 89,308,247 (GRCm39)		probably null	Het
Ctf2	T	G	7: 127,318,556 (GRCm39)	T148P	possibly damaging	Het
Ddx23	G	A	15: 98,545,505 (GRCm39)	T601I	probably damaging	Het
Dlx6	G	T	6: 6,865,305 (GRCm39)		probably benign	Het
Dmrtb1	A	T	4: 107,534,265 (GRCm39)	N183K	possibly damaging	Het
Dnah11	A	G	12: 117,975,990 (GRCm39)		probably null	Het
Dnah5	C	T	15: 28,367,909 (GRCm39)	P2765S	probably benign	Het
Dnah6	T	A	6: 73,063,164 (GRCm39)	N2698I	probably damaging	Het
Fpr-rs6	T	A	17: 20,403,359 (GRCm39)	M1L	probably damaging	Het
Gm4841	T	C	18: 60,402,998 (GRCm39)	N365S	probably benign	Het
Gsdmc2	C	T	15: 63,699,872 (GRCm39)		probably null	Het
Irx5	G	A	8: 93,084,890 (GRCm39)	V27I	probably damaging	Het
Kmt2e	T	A	5: 23,697,405 (GRCm39)	V101D	possibly damaging	Het
Maip1	A	C	1: 57,452,404 (GRCm39)	K219Q	possibly damaging	Het
Mpp7	G	T	18: 7,353,228 (GRCm39)	R493S	probably benign	Het
Ms4a14	T	C	19: 11,281,335 (GRCm39)	T408A	probably benign	Het
Mthfr	A	G	4: 148,127,998 (GRCm39)	N117S	possibly damaging	Het
Mtres1	T	A	10: 43,409,006 (GRCm39)	S46C	probably damaging	Het
Myo5c	A	G	9: 75,176,893 (GRCm39)	I613V	probably benign	Het
Neurl1b	A	G	17: 26,650,860 (GRCm39)	Q44R	probably benign	Het
Nup54	T	A	5: 92,573,641 (GRCm39)	N187I	probably benign	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or5ak22	C	A	2: 85,230,370 (GRCm39)	C169F	probably damaging	Het
Pate2	C	A	9: 35,596,969 (GRCm39)		probably benign	Het
Pccb	T	C	9: 100,867,252 (GRCm39)	S445G	probably damaging	Het
Pex3	G	A	10: 13,411,315 (GRCm39)	Q188*	probably null	Het
Pikfyve	T	A	1: 65,231,351 (GRCm39)	W74R	probably damaging	Het
Plcl2	T	C	17: 50,914,874 (GRCm39)	S628P	probably damaging	Het
Pnldc1	T	C	17: 13,111,669 (GRCm39)	H346R	probably benign	Het
Pom121l2	T	A	13: 22,168,572 (GRCm39)	C948S	probably benign	Het
Ralgapa2	A	G	2: 146,277,919 (GRCm39)	L414S	probably damaging	Het
Rgs13	T	A	1: 144,016,583 (GRCm39)	K53N	probably damaging	Het
Rorc	T	C	3: 94,296,291 (GRCm39)	S163P	probably benign	Het
Rpl3l	A	C	17: 24,952,984 (GRCm39)	T315P	possibly damaging	Het
Rsph3b	A	G	17: 7,172,438 (GRCm39)	V487A	probably benign	Het
Rusc2	A	G	4: 43,416,080 (GRCm39)	E462G	probably damaging	Het
Sez6l	T	C	5: 112,576,344 (GRCm39)	T838A	probably damaging	Het
Slc22a14	A	G	9: 119,008,561 (GRCm39)	Y236H	probably damaging	Het
Sspo	G	A	6: 48,442,457 (GRCm39)	R1984H	probably damaging	Het
Steap3	G	T	1: 120,169,186 (GRCm39)	D370E	probably benign	Het
Sumf1	A	G	6: 108,085,393 (GRCm39)		probably benign	Het
Telo2	T	C	17: 25,320,647 (GRCm39)	E754G	probably damaging	Het
Tjp1	A	G	7: 64,972,353 (GRCm39)	F604L	probably damaging	Het
Trpm7	A	T	2: 126,639,131 (GRCm39)	D1734E	probably benign	Het
Tsfm	A	C	10: 126,864,242 (GRCm39)	Y158D	probably damaging	Het
Ubtf	T	C	11: 102,197,591 (GRCm39)		probably benign	Het
Upk3a	G	T	15: 84,904,752 (GRCm39)	V167F	possibly damaging	Het
Vmn2r19	C	T	6: 123,292,939 (GRCm39)	S327L	probably benign	Het
Vps13c	T	A	9: 67,858,965 (GRCm39)	I2805N	probably damaging	Het
Zfp592	A	G	7: 80,673,534 (GRCm39)	D166G	possibly 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
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'- CTGTTTCTGAACTCTAATTGGCAAG -3'
(R):5'- CCTAACTGTTCAGGCCATAAATG -3'

Sequencing Primer
(F):5'- CTGCAAGTTCAAATCTAGTCTGG -3'
(R):5'- CAGGCCATAAATGTCCAATAAGTG -3'

Posted On

2015-09-24