Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02989:Pspc1'

406864

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pspc1

Ensembl Gene

ENSMUSG00000021938

Gene Name

paraspeckle protein 1

Synonyms

PSP1, 5730470C09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02989

Quality Score

Status

Chromosome

Chromosomal Location

56959898-57015775 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 57009153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8R326

Predicted Effect

probably benign
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 benign
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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	T	A	19: 20,617,422 (GRCm39)		probably benign	Het
Arhgap15	A	G	2: 43,670,748 (GRCm39)	D44G	probably damaging	Het
Arhgap35	A	T	7: 16,231,580 (GRCm39)	*1500R	probably null	Het
Arid1b	A	G	17: 5,385,322 (GRCm39)	Y1413C	probably damaging	Het
Atf6	A	G	1: 170,616,252 (GRCm39)		probably benign	Het
Cant1	T	C	11: 118,302,038 (GRCm39)	Y93C	probably damaging	Het
Cat	A	G	2: 103,303,318 (GRCm39)	F153S	probably damaging	Het
Ccdc187	G	A	2: 26,166,443 (GRCm39)	R712W	possibly damaging	Het
Clpb	T	C	7: 101,428,427 (GRCm39)	S396P	probably damaging	Het
Cntnap5a	A	G	1: 116,339,813 (GRCm39)		probably benign	Het
Dap3	G	A	3: 88,837,878 (GRCm39)		probably benign	Het
Dnah6	T	A	6: 73,046,403 (GRCm39)	D3195V	probably damaging	Het
Eprs1	T	G	1: 185,150,563 (GRCm39)	F1355C	probably benign	Het
Faim2	A	G	15: 99,418,243 (GRCm39)		probably benign	Het
Fancg	A	G	4: 43,007,121 (GRCm39)		probably benign	Het
Fbxo42	T	A	4: 140,926,845 (GRCm39)	I375N	probably damaging	Het
Gabrr3	A	T	16: 59,268,371 (GRCm39)	D328V	probably damaging	Het
Gm5849	T	A	3: 90,685,107 (GRCm39)	D26V	probably damaging	Het
Gm6563	T	C	19: 23,653,234 (GRCm39)	L8P	possibly damaging	Het
Gpld1	A	G	13: 25,174,019 (GRCm39)	N815D	possibly damaging	Het
Hrob	A	G	11: 102,146,125 (GRCm39)	I134V	probably benign	Het
Idh2	T	A	7: 79,748,856 (GRCm39)	I142F	probably damaging	Het
Kcnh7	A	C	2: 62,552,269 (GRCm39)	N907K	probably benign	Het
Mcm3ap	A	G	10: 76,306,894 (GRCm39)	T336A	possibly damaging	Het
Or4c15	A	T	2: 88,760,048 (GRCm39)	S204T	possibly damaging	Het
Or52i2	T	C	7: 102,319,651 (GRCm39)	S175P	possibly damaging	Het
Or5b3	C	A	19: 13,388,850 (GRCm39)	Q306K	probably benign	Het
Pilrb1	C	A	5: 137,855,492 (GRCm39)	R133L	possibly damaging	Het
Pitpnm3	C	A	11: 72,011,012 (GRCm39)		probably benign	Het
Prkdc	C	T	16: 15,617,880 (GRCm39)	T3237I	possibly damaging	Het
Rasgrp4	G	A	7: 28,847,831 (GRCm39)	E414K	probably damaging	Het
Rgs12	T	A	5: 35,122,463 (GRCm39)	L82Q	probably damaging	Het
Sh3gl3	T	C	7: 81,923,087 (GRCm39)	V117A	probably benign	Het
Shisa5	G	A	9: 108,885,062 (GRCm39)	A112T	probably damaging	Het
Tasor2	A	T	13: 3,634,820 (GRCm39)	H662Q	probably benign	Het
Tedc1	A	G	12: 113,126,941 (GRCm39)	E401G	probably benign	Het
Tsc22d1	T	C	14: 76,656,341 (GRCm39)	M940T	probably benign	Het
Vmn1r129	A	T	7: 21,094,663 (GRCm39)	V185E	probably damaging	Het
Zfp982	C	A	4: 147,597,052 (GRCm39)	D136E	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
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
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

Posted On

2016-08-02