Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00578:Sfpq'

14000

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sfpq

Ensembl Gene

ENSMUSG00000028820

Gene Name

splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated)

Synonyms

1110004P21Rik, 5730453G22Rik, 9030402K04Rik, 2810416M14Rik, PSF, REP1, D4Ertd314e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00578

Quality Score

Status

Chromosome

Chromosomal Location

126915117-126930806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126919700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 482 (Y482H)

Ref Sequence

ENSEMBL: ENSMUSP00000030623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030623]

AlphaFold

Q8VIJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000030623
AA Change: Y482H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030623
Gene: ENSMUSG00000028820
AA Change: Y482H

Domain	Start	End	E-Value	Type
low complexity region	2	33	N/A	INTRINSIC
low complexity region	48	101	N/A	INTRINSIC
low complexity region	105	236	N/A	INTRINSIC
low complexity region	238	258	N/A	INTRINSIC
RRM	290	357	3.97e-18	SMART
RRM	364	440	3.83e-11	SMART
low complexity region	526	544	N/A	INTRINSIC
low complexity region	554	587	N/A	INTRINSIC
low complexity region	595	614	N/A	INTRINSIC
low complexity region	617	639	N/A	INTRINSIC
low complexity region	660	680	N/A	INTRINSIC
low complexity region	682	692	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146285

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele die. Heterozygous mice show abnormality in entrainment of circadian rhythm. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	A	G	11: 5,821,787 (GRCm39)	T729A	possibly damaging	Het
Ank3	C	A	10: 69,838,224 (GRCm39)	S864Y	possibly damaging	Het
Ankrd44	G	A	1: 54,701,806 (GRCm39)		probably benign	Het
Atp11c	C	T	X: 59,286,177 (GRCm39)	G996R	probably damaging	Het
Col11a1	A	G	3: 113,987,755 (GRCm39)	T250A	possibly damaging	Het
Cox8a	T	A	19: 7,192,770 (GRCm39)	Y65F	probably damaging	Het
Ctnnd1	G	T	2: 84,439,969 (GRCm39)	N451K	probably damaging	Het
D630045J12Rik	T	C	6: 38,171,865 (GRCm39)	T768A	probably benign	Het
Esyt1	A	G	10: 128,347,612 (GRCm39)	S999P	probably damaging	Het
Fyco1	A	G	9: 123,667,962 (GRCm39)	I88T	probably damaging	Het
Kdm2b	A	G	5: 123,099,630 (GRCm39)	V103A	probably damaging	Het
Klk1b26	T	C	7: 43,666,309 (GRCm39)	S251P	probably benign	Het
Krtap16-1	A	G	11: 99,876,121 (GRCm39)	S428P	probably benign	Het
Lrp1b	C	T	2: 40,569,185 (GRCm39)	V210I	unknown	Het
Mapk8ip3	A	T	17: 25,119,793 (GRCm39)	D1018E	probably damaging	Het
Nxph2	T	A	2: 23,290,334 (GRCm39)	C229S	probably damaging	Het
Prickle1	A	G	15: 93,398,662 (GRCm39)	L722P	probably benign	Het
Rbm12	A	T	2: 155,937,961 (GRCm39)		probably benign	Het
Rimoc1	C	A	15: 4,018,118 (GRCm39)	G186C	probably damaging	Het
Sycp2	T	C	2: 177,992,615 (GRCm39)		probably benign	Het
Unc5b	A	G	10: 60,602,834 (GRCm39)	I866T	probably damaging	Het

Other mutations in Sfpq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Sfpq	APN	4	126,917,481 (GRCm39)	missense	possibly damaging	0.80
IGL01301:Sfpq	APN	4	126,920,553 (GRCm39)	splice site	probably benign
IGL02385:Sfpq	APN	4	126,919,929 (GRCm39)	splice site	probably null
IGL03373:Sfpq	APN	4	126,920,578 (GRCm39)	missense	possibly damaging	0.92
R0645:Sfpq	UTSW	4	126,916,762 (GRCm39)	missense	possibly damaging	0.75
R2038:Sfpq	UTSW	4	126,915,295 (GRCm39)	missense	unknown
R3120:Sfpq	UTSW	4	126,915,926 (GRCm39)	missense	unknown
R4609:Sfpq	UTSW	4	126,915,404 (GRCm39)	missense	unknown
R4788:Sfpq	UTSW	4	126,919,791 (GRCm39)	missense	probably damaging	1.00
R5034:Sfpq	UTSW	4	126,917,462 (GRCm39)	splice site	probably benign
R5411:Sfpq	UTSW	4	126,915,516 (GRCm39)	missense	unknown
R6115:Sfpq	UTSW	4	126,915,141 (GRCm39)	start gained	probably null
R6906:Sfpq	UTSW	4	126,915,419 (GRCm39)	small deletion	probably benign
R6907:Sfpq	UTSW	4	126,915,419 (GRCm39)	small deletion	probably benign
R6908:Sfpq	UTSW	4	126,915,419 (GRCm39)	small deletion	probably benign
R6929:Sfpq	UTSW	4	126,915,419 (GRCm39)	small deletion	probably benign
R6933:Sfpq	UTSW	4	126,915,419 (GRCm39)	small deletion	probably benign
R7029:Sfpq	UTSW	4	126,923,675 (GRCm39)	missense	probably benign	0.23
R7124:Sfpq	UTSW	4	126,919,725 (GRCm39)	missense	possibly damaging	0.50
R8752:Sfpq	UTSW	4	126,919,969 (GRCm39)	missense	possibly damaging	0.47
R9041:Sfpq	UTSW	4	126,915,296 (GRCm39)	missense	unknown
R9111:Sfpq	UTSW	4	126,915,401 (GRCm39)	small deletion	probably benign
R9125:Sfpq	UTSW	4	126,915,633 (GRCm39)	missense	unknown
R9288:Sfpq	UTSW	4	126,916,627 (GRCm39)	missense	probably damaging	0.98

Posted On

2012-12-06