Mutagenetix > Incidental Mutation

Incidental Mutation 'R7036:Pspc1'

546715

Institutional Source

Beutler Lab

Gene Symbol

Pspc1

Ensembl Gene

ENSMUSG00000021938

Gene Name

paraspeckle protein 1

Synonyms

PSP1, 5730470C09Rik

MMRRC Submission

045012-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7036 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56959898-57015775 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 56996085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133038 (fasta)

Gene Model

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

AlphaFold

Q8R326

Predicted Effect

probably null
Transcript: ENSMUST00000022507

SMART Domains

Protein: ENSMUSP00000022507
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
low complexity region	494	516	N/A	INTRINSIC

Predicted Effect

probably null
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

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,445,118 (GRCm39)		probably null	Het
Ahnak2	A	G	12: 112,745,216 (GRCm39)		probably benign	Het
Akt2	T	C	7: 27,336,437 (GRCm39)		probably null	Het
Aldh1a7	A	T	19: 20,685,542 (GRCm39)	L336Q	possibly damaging	Het
Ank2	T	C	3: 126,740,041 (GRCm39)		probably benign	Het
Ank3	C	T	10: 69,835,209 (GRCm39)	T680M	probably damaging	Het
Apeh	T	C	9: 107,971,470 (GRCm39)	E59G	possibly damaging	Het
Arl8a	G	C	1: 135,082,206 (GRCm39)	E145Q	probably benign	Het
Armc8	C	T	9: 99,366,018 (GRCm39)		probably null	Het
Armh3	A	G	19: 45,953,688 (GRCm39)	I195T	probably damaging	Het
Arsj	T	C	3: 126,158,649 (GRCm39)	L76P	probably damaging	Het
Atp2b1	C	T	10: 98,823,172 (GRCm39)	T244I	probably damaging	Het
Bcl6	A	T	16: 23,793,611 (GRCm39)	L112Q	probably damaging	Het
Bfsp1	T	A	2: 143,668,843 (GRCm39)	T579S	possibly damaging	Het
Btaf1	C	A	19: 36,981,869 (GRCm39)	T1633K	probably benign	Het
Cacng8	A	G	7: 3,463,819 (GRCm39)	S324G	probably benign	Het
Cd2ap	A	T	17: 43,109,490 (GRCm39)	L623Q	probably damaging	Het
Cerkl	T	C	2: 79,171,722 (GRCm39)	I379V	probably benign	Het
Cndp2	T	A	18: 84,688,070 (GRCm39)	H307L	possibly damaging	Het
Derl1	A	G	15: 57,742,443 (GRCm39)		probably null	Het
Dixdc1	T	A	9: 50,593,864 (GRCm39)	R254S	probably benign	Het
Dop1b	T	A	16: 93,574,378 (GRCm39)	D30E	probably benign	Het
Duox2	T	G	2: 122,110,934 (GRCm39)	H1513P	probably damaging	Het
Dyrk1a	G	A	16: 94,487,427 (GRCm39)	V546I	probably benign	Het
E130308A19Rik	A	C	4: 59,719,991 (GRCm39)	K508Q	probably damaging	Het
Emc8	A	T	8: 121,385,790 (GRCm39)	V108E	probably benign	Het
Epb41l1	A	G	2: 156,371,322 (GRCm39)	T720A	probably benign	Het
Fcgr4	T	A	1: 170,847,657 (GRCm39)	M85K	probably benign	Het
Fem1b	T	A	9: 62,704,310 (GRCm39)	I317F	probably damaging	Het
Focad	A	G	4: 88,042,874 (GRCm39)	E36G	probably benign	Het
Fryl	C	T	5: 73,212,951 (GRCm39)	E2275K	probably benign	Het
Galnt11	T	C	5: 25,463,811 (GRCm39)	I361T	probably damaging	Het
Garin3	G	A	11: 46,298,235 (GRCm39)	S513N		Het
Gatad2a	A	T	8: 70,370,644 (GRCm39)	N114K	probably damaging	Het
Gcnt2	CTAATG	C	13: 41,041,032 (GRCm39)		probably null	Het
Gramd1a	A	G	7: 30,832,181 (GRCm39)		probably null	Het
Gsn	T	A	2: 35,182,611 (GRCm39)	W187R	probably damaging	Het
Hoxc12	G	A	15: 102,846,795 (GRCm39)	G229D	probably damaging	Het
Hycc2	T	A	1: 58,574,696 (GRCm39)	M282L	probably benign	Het
Ints14	T	C	9: 64,871,827 (GRCm39)	V55A	probably benign	Het
Itga9	T	C	9: 118,527,433 (GRCm39)	L528P	probably benign	Het
Klf1	C	T	8: 85,629,379 (GRCm39)	S68F	possibly damaging	Het
Kmt2e	A	G	5: 23,683,741 (GRCm39)	E333G	probably null	Het
Krt39	A	C	11: 99,412,062 (GRCm39)	V8G	probably benign	Het
Krt71	A	G	15: 101,646,772 (GRCm39)	I312T	probably benign	Het
Lrp1b	T	C	2: 41,002,354 (GRCm39)	D2001G	possibly damaging	Het
Lrrc37	T	A	11: 103,506,638 (GRCm39)		probably benign	Het
Lrrc71	T	C	3: 87,655,693 (GRCm39)	T27A	probably benign	Het
Lrrcc1	T	C	3: 14,628,069 (GRCm39)	V958A	possibly damaging	Het
Med15	A	T	16: 17,516,019 (GRCm39)	M1K	probably null	Het
Mrgpra3	G	T	7: 47,239,838 (GRCm39)	N29K	possibly damaging	Het
Myl1	T	C	1: 66,969,395 (GRCm39)	N79S	probably damaging	Het
Naip2	A	T	13: 100,291,529 (GRCm39)	D1136E	probably benign	Het
Nat10	T	C	2: 103,584,453 (GRCm39)	N108S	probably benign	Het
Ncald	A	T	15: 37,369,122 (GRCm39)	S178T	probably benign	Het
Ndufs2	T	C	1: 171,065,877 (GRCm39)	D256G	probably benign	Het
Nek5	T	C	8: 22,597,739 (GRCm39)	N280S	probably benign	Het
Or5ak25	A	G	2: 85,268,774 (GRCm39)	S243P	probably damaging	Het
Or5d39	T	A	2: 87,979,469 (GRCm39)	D298V	probably damaging	Het
Parp1	G	T	1: 180,425,817 (GRCm39)	K849N	possibly damaging	Het
Pcdhb4	T	A	18: 37,441,835 (GRCm39)	C382S	possibly damaging	Het
Plce1	A	G	19: 38,727,801 (GRCm39)	N1520S	probably damaging	Het
Plcg2	G	A	8: 118,323,045 (GRCm39)	R700H	probably benign	Het
Popdc2	A	T	16: 38,183,173 (GRCm39)	Y52F	probably damaging	Het
Prrx1	T	A	1: 163,075,907 (GRCm39)	M220L	probably benign	Het
Ptchd1	T	A	X: 154,357,708 (GRCm39)	Y499F	probably damaging	Het
Ptpn20	A	G	14: 33,336,392 (GRCm39)	*44W	probably null	Het
Qars1	T	A	9: 108,391,976 (GRCm39)	V83E	probably damaging	Het
Rrh	T	C	3: 129,609,342 (GRCm39)	E55G	possibly damaging	Het
Sash1	C	A	10: 8,605,847 (GRCm39)	E848*	probably null	Het
Sds	A	T	5: 120,618,912 (GRCm39)	K125M	possibly damaging	Het
Serpinf2	A	T	11: 75,329,244 (GRCm39)		probably benign	Het
Sh2b2	G	A	5: 136,247,739 (GRCm39)	T604I	probably benign	Het
Smug1	A	G	15: 103,064,369 (GRCm39)	L184P	probably damaging	Het
Spatc1	A	G	15: 76,168,080 (GRCm39)	T180A	probably benign	Het
Ssr1	A	T	13: 38,178,001 (GRCm39)	L20Q	probably null	Het
Supt4a	A	G	11: 87,634,084 (GRCm39)	E100G	probably damaging	Het
Tbx1	G	T	16: 18,405,551 (GRCm39)	P38T	unknown	Het
Tcl1	T	C	12: 105,183,860 (GRCm39)		probably benign	Het
Teddm2	T	C	1: 153,726,320 (GRCm39)	I132V	probably benign	Het
Tmem131	C	T	1: 36,832,054 (GRCm39)	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,299,358 (GRCm39)	H1186L	probably benign	Het
Trim34b	A	T	7: 103,978,743 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,748,426 (GRCm39)	M1415V	probably benign	Het
Ttll12	A	G	15: 83,471,086 (GRCm39)	F264S	probably benign	Het
Vmn2r59	T	C	7: 41,695,644 (GRCm39)	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Vps35l	T	C	7: 118,372,315 (GRCm39)	S290P	probably damaging	Het
Wdr70	T	C	15: 7,913,855 (GRCm39)	D598G	possibly damaging	Het
Ybey	T	C	10: 76,304,197 (GRCm39)	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,280,200 (GRCm39)	Q308L	probably benign	Het
Zfp872	C	T	9: 22,111,856 (GRCm39)	P445L	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
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
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'- TGGCAAATCACGAGCATTCTTAC -3'
(R):5'- TATGTGCCAGTAATAGAGATTCCAC -3'

Sequencing Primer
(F):5'- CGAGCATTCTTACCATTGCAATTCAG -3'
(R):5'- GCCAGTAATAGAGATTCCACTTTTGG -3'

Posted On

2019-05-13