Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00539:Sfpq'

6573

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 #

IGL00539

Quality Score

Status

Chromosome

Chromosomal Location

126915117-126930806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126917481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 437 (V437A)

Ref Sequence

ENSEMBL: ENSMUSP00000030623 (fasta)

Gene Model

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

AlphaFold

Q8VIJ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030623
AA Change: V437A

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030623
Gene: ENSMUSG00000028820
AA Change: V437A

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	C	A	19: 8,985,272 (GRCm39)	D2185E	possibly damaging	Het
Camk2b	A	G	11: 5,922,310 (GRCm39)	S560P	probably damaging	Het
Cdh13	C	A	8: 120,039,245 (GRCm39)	N562K	possibly damaging	Het
Cdhr4	A	G	9: 107,876,744 (GRCm39)	Y771C	probably damaging	Het
Ermap	A	G	4: 119,041,114 (GRCm39)	S299P	probably damaging	Het
Fgd3	A	G	13: 49,429,119 (GRCm39)		probably benign	Het
Fpr-rs4	T	A	17: 18,242,188 (GRCm39)	L65Q	probably damaging	Het
Hsph1	C	T	5: 149,542,254 (GRCm39)	R723H	possibly damaging	Het
Iqcb1	A	G	16: 36,678,873 (GRCm39)	K396E	probably damaging	Het
Kif21a	T	C	15: 90,821,504 (GRCm39)	T1424A	probably damaging	Het
Mpdz	T	C	4: 81,279,588 (GRCm39)	S700G	possibly damaging	Het
Mta3	G	A	17: 84,070,412 (GRCm39)	R39Q	probably benign	Het
Muc4	A	T	16: 32,569,728 (GRCm39)	T263S	possibly damaging	Het
Ncan	G	A	8: 70,567,921 (GRCm39)	P64S	probably benign	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Pla2g4f	T	C	2: 120,133,219 (GRCm39)	H660R	possibly damaging	Het
Polq	A	G	16: 36,880,931 (GRCm39)	T753A	probably damaging	Het
Ptchd4	C	T	17: 42,627,817 (GRCm39)	Q93*	probably null	Het
Slc18b1	G	A	10: 23,700,659 (GRCm39)		probably null	Het
Taf1c	C	T	8: 120,328,067 (GRCm39)	V277I	possibly damaging	Het
Tcf20	T	A	15: 82,736,957 (GRCm39)	Q1498L	probably benign	Het
Tet1	C	A	10: 62,650,276 (GRCm39)	C1644F	probably damaging	Het
Trmt5	T	C	12: 73,331,693 (GRCm39)	E121G	possibly damaging	Het
Wapl	A	G	14: 34,416,965 (GRCm39)	D525G	probably damaging	Het
Ylpm1	A	G	12: 85,075,728 (GRCm39)	T360A	possibly damaging	Het
Zfp292	G	A	4: 34,808,790 (GRCm39)	P1418L	probably damaging	Het

Other mutations in Sfpq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Sfpq	APN	4	126,919,700 (GRCm39)	missense	probably damaging	1.00
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

2012-04-20