Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02954:Pspc1'

365024

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 #

IGL02954

Quality Score

Status

Chromosome

Chromosomal Location

56959898-57015775 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57009217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 206 (P206S)

Ref Sequence

ENSEMBL: ENSMUSP00000022507 (fasta)

Gene Model

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

AlphaFold

Q8R326

Predicted Effect

probably benign
Transcript: ENSMUST00000022507
AA Change: P206S

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022507
Gene: ENSMUSG00000021938
AA Change: P206S

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
AA Change: P206S

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000133038
Gene: ENSMUSG00000021938
AA Change: P206S

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
Abcb1a	G	T	5: 8,782,341 (GRCm39)	R908L	probably benign	Het
Abcc9	T	C	6: 142,592,007 (GRCm39)	N774S	probably damaging	Het
Alpk2	C	T	18: 65,439,207 (GRCm39)	V729I	probably benign	Het
Atf3	T	C	1: 190,903,852 (GRCm39)	N125D	probably damaging	Het
Bcat1	C	T	6: 144,964,945 (GRCm39)	G215D	probably damaging	Het
Bptf	G	T	11: 106,945,575 (GRCm39)	Q2555K	possibly damaging	Het
Cthrc1	A	G	15: 38,940,389 (GRCm39)		probably benign	Het
Cyp2c38	A	G	19: 39,379,520 (GRCm39)	M443T	probably damaging	Het
D6Wsu163e	C	T	6: 126,951,441 (GRCm39)		probably benign	Het
Dgkg	T	A	16: 22,441,003 (GRCm39)	E3D	probably benign	Het
Dnah8	G	T	17: 30,923,809 (GRCm39)	R1259L	probably benign	Het
Dnah9	A	G	11: 66,009,793 (GRCm39)	L698P	probably damaging	Het
Ebag9	A	C	15: 44,493,601 (GRCm39)	H141P	probably benign	Het
Emilin2	T	C	17: 71,563,526 (GRCm39)	R840G	probably benign	Het
Faap100	A	T	11: 120,262,957 (GRCm39)	H800Q	probably damaging	Het
Fh1	A	T	1: 175,437,301 (GRCm39)	I266N	probably damaging	Het
Fkbp15	A	G	4: 62,239,302 (GRCm39)		probably benign	Het
Gm17334	A	G	11: 53,663,654 (GRCm39)		probably benign	Het
Gm5773	G	T	3: 93,680,358 (GRCm39)	W10L	probably benign	Het
Gng13	T	C	17: 25,937,726 (GRCm39)	Y18H	probably damaging	Het
Hivep3	T	C	4: 119,990,838 (GRCm39)	S2113P	probably damaging	Het
Ift81	A	T	5: 122,748,248 (GRCm39)		probably benign	Het
Irak3	A	C	10: 120,012,147 (GRCm39)	L206V	probably damaging	Het
Kcng4	C	T	8: 120,359,792 (GRCm39)	A195T	probably benign	Het
Lrrc40	G	A	3: 157,747,302 (GRCm39)		probably benign	Het
Nars2	T	G	7: 96,689,100 (GRCm39)		probably null	Het
Nol8	T	C	13: 49,814,648 (GRCm39)	V234A	probably benign	Het
Or12j4	A	T	7: 140,046,353 (GRCm39)	K80*	probably null	Het
Or1o4	T	A	17: 37,591,195 (GRCm39)	N39Y	probably damaging	Het
Patz1	A	G	11: 3,241,761 (GRCm39)	Y383C	probably damaging	Het
Pdcd5	T	C	7: 35,343,089 (GRCm39)	Y152C	probably damaging	Het
Phkg1	A	G	5: 129,894,910 (GRCm39)	W214R	probably damaging	Het
Plxna1	A	G	6: 89,301,649 (GRCm39)	L1459P	probably damaging	Het
St7	A	T	6: 17,848,030 (GRCm39)	N198I	probably damaging	Het
Supt3	A	G	17: 45,349,015 (GRCm39)	D249G	probably damaging	Het
Taf1c	T	C	8: 120,327,225 (GRCm39)	Y418C	probably damaging	Het
Tdrd6	A	G	17: 43,938,153 (GRCm39)	V965A	possibly damaging	Het
Ugt2b35	A	G	5: 87,159,180 (GRCm39)	N458S	probably benign	Het
Vmn1r8	A	G	6: 57,013,315 (GRCm39)	Y122C	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
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
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

2015-12-18