Mutagenetix > Incidental Mutation

Incidental Mutation 'R8009:Pspc1'

616824

Institutional Source

Beutler Lab

Gene Symbol

Pspc1

Ensembl Gene

ENSMUSG00000021938

Gene Name

paraspeckle protein 1

Synonyms

PSP1, 5730470C09Rik

MMRRC Submission

046049-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56959898-57015775 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 57009304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 177 (Q177*)

Ref Sequence

ENSEMBL: ENSMUSP00000022507 (fasta)

Gene Model

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

AlphaFold

Q8R326

Predicted Effect

probably null
Transcript: ENSMUST00000022507
AA Change: Q177*

SMART Domains

Protein: ENSMUSP00000022507
Gene: ENSMUSG00000021938
AA Change: Q177*

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
AA Change: Q177*

SMART Domains

Protein: ENSMUSP00000133038
Gene: ENSMUSG00000021938
AA Change: Q177*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (54/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,878,870 (GRCm39)	N751K	possibly damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Baz1a	A	T	12: 54,941,816 (GRCm39)	Y1466*	probably null	Het
Ccng1	G	A	11: 40,642,096 (GRCm39)	H229Y	probably benign	Het
Cenpn	C	A	8: 117,663,976 (GRCm39)	T256N	probably benign	Het
Ciart	A	G	3: 95,788,629 (GRCm39)	V70A	possibly damaging	Het
Clcc1	A	G	3: 108,568,774 (GRCm39)	N36S	probably damaging	Het
Dmrt1	T	A	19: 25,523,245 (GRCm39)	S199T	possibly damaging	Het
Dmrt3	T	C	19: 25,588,272 (GRCm39)	V37A	possibly damaging	Het
Dock1	T	A	7: 134,346,786 (GRCm39)	D239E	possibly damaging	Het
Dyrk3	A	G	1: 131,063,995 (GRCm39)		probably null	Het
Esyt1	T	C	10: 128,347,354 (GRCm39)	E1057G	probably benign	Het
Fsip2	A	G	2: 82,818,793 (GRCm39)	E4842G	possibly damaging	Het
Gadd45b	G	A	10: 80,766,984 (GRCm39)	V90I	probably benign	Het
Gfi1	T	A	5: 107,871,667 (GRCm39)	H79L	probably damaging	Het
Golm2	T	C	2: 121,737,242 (GRCm39)	V261A	probably benign	Het
Idh2	T	C	7: 79,748,001 (GRCm39)	H233R	probably benign	Het
Itsn2	G	A	12: 4,714,553 (GRCm39)	A950T	probably benign	Het
Kcna5	A	G	6: 126,510,517 (GRCm39)	L537P	probably benign	Het
Krtap5-4	C	T	7: 141,857,671 (GRCm39)	Q114*	probably null	Het
Loxl3	T	C	6: 83,027,790 (GRCm39)	F734S	possibly damaging	Het
Lpcat1	C	T	13: 73,659,498 (GRCm39)	T420I	probably damaging	Het
Lrch3	A	T	16: 32,826,083 (GRCm39)	D720V	possibly damaging	Het
Lrrk1	T	C	7: 65,915,222 (GRCm39)	D1622G	possibly damaging	Het
Meioc	G	C	11: 102,567,569 (GRCm39)	A788P	probably damaging	Het
Mmp1a	A	T	9: 7,467,236 (GRCm39)	T271S	possibly damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Ntrk3	T	A	7: 78,103,076 (GRCm39)	D408V	probably benign	Het
Odf1	A	G	15: 38,226,840 (GRCm39)	I247V	unknown	Het
Or14j5	A	T	17: 38,161,693 (GRCm39)	D70V	probably damaging	Het
Or8k39	A	G	2: 86,563,848 (GRCm39)	L36P	probably damaging	Het
Pcsk1	T	C	13: 75,274,958 (GRCm39)	S516P	probably benign	Het
Phactr3	A	C	2: 177,974,737 (GRCm39)	R523S	probably damaging	Het
Pikfyve	A	G	1: 65,294,293 (GRCm39)	D1411G	probably damaging	Het
Ppcs	A	T	4: 119,276,262 (GRCm39)	S281T	probably benign	Het
Prkcg	A	G	7: 3,362,708 (GRCm39)	D294G	probably benign	Het
Psg28	T	A	7: 18,156,922 (GRCm39)	I438L	probably damaging	Het
Rbm33	G	A	5: 28,599,606 (GRCm39)	G185R		Het
Rps6ka5	T	C	12: 100,544,048 (GRCm39)	E350G	probably damaging	Het
Satb2	A	G	1: 56,910,917 (GRCm39)	S243P	probably benign	Het
Serinc5	T	C	13: 92,797,699 (GRCm39)		probably null	Het
Sgce	T	C	6: 4,691,636 (GRCm39)	D313G	probably damaging	Het
Sntg1	C	T	1: 8,433,794 (GRCm39)	V486I	probably damaging	Het
Stxbp5	A	G	10: 9,692,046 (GRCm39)	V366A	probably damaging	Het
Tep1	A	G	14: 51,061,687 (GRCm39)	S2610P	possibly damaging	Het
Tlr3	G	A	8: 45,853,819 (GRCm39)	T167M	not run	Het
Tmem200a	A	G	10: 25,869,904 (GRCm39)	S122P	probably damaging	Het
Tmprss15	C	T	16: 78,887,751 (GRCm39)	V19M	probably damaging	Het
Tnks2	T	A	19: 36,829,901 (GRCm39)	M194K	probably benign	Het
Trav14d-3-dv8	A	C	14: 53,316,224 (GRCm39)	Q28P	probably damaging	Het
Trpm5	T	C	7: 142,634,106 (GRCm39)	E700G	probably benign	Het
Ubqln3	T	A	7: 103,791,797 (GRCm39)	I98L	probably benign	Het
Uso1	A	T	5: 92,314,439 (GRCm39)	E115D	probably benign	Het
Vmn1r28	T	C	6: 58,242,178 (GRCm39)	V7A	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
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
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'- TCCATATTTAACTGGACAGAGGAC -3'
(R):5'- AGTCTTCTTAGAGCCAAACCAC -3'

Sequencing Primer
(F):5'- GGACAAGAGAGTTAAAACTTACGTTG -3'
(R):5'- ACTGAAGAGCAGACCTCT -3'

Posted On

2020-01-23