Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01301:Sfpq'

73262

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 #

IGL01301

Quality Score

Status

Chromosome

Chromosomal Location

126915117-126930806 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 126920553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030623 (fasta)

Gene Model

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

AlphaFold

Q8VIJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000030623

SMART Domains

Protein: ENSMUSP00000030623
Gene: ENSMUSG00000028820

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 15,164,181 (GRCm39)		probably null	Het
Acacb	A	T	5: 114,384,559 (GRCm39)	I2238L	probably benign	Het
Aldh1l2	T	C	10: 83,358,710 (GRCm39)	Y95C	probably damaging	Het
Asxl2	A	G	12: 3,551,425 (GRCm39)	T1056A	probably damaging	Het
B4galnt1	A	G	10: 127,005,648 (GRCm39)	T250A	possibly damaging	Het
Cela3b	A	T	4: 137,151,154 (GRCm39)		probably null	Het
Chst3	T	C	10: 60,021,654 (GRCm39)	T398A	probably damaging	Het
Cngb3	A	G	4: 19,425,625 (GRCm39)	T478A	probably damaging	Het
Cyp4a10	T	C	4: 115,375,652 (GRCm39)	L45P	probably damaging	Het
Defb21	A	G	2: 152,416,671 (GRCm39)	E49G	possibly damaging	Het
Dnajc1	T	C	2: 18,313,645 (GRCm39)	T159A	probably damaging	Het
Dnmbp	A	G	19: 43,890,793 (GRCm39)	S325P	probably benign	Het
Fam91a1	T	C	15: 58,314,720 (GRCm39)	F534L	probably damaging	Het
Fermt2	T	C	14: 45,702,320 (GRCm39)	E488G	probably damaging	Het
Filip1	T	C	9: 79,726,462 (GRCm39)	D719G	possibly damaging	Het
Gad1-ps	A	G	10: 99,281,013 (GRCm39)		noncoding transcript	Het
Glra3	C	A	8: 56,393,997 (GRCm39)	A36E	probably benign	Het
Gm9884	T	A	1: 25,869,729 (GRCm39)		probably benign	Het
Hectd2	T	C	19: 36,546,770 (GRCm39)		probably benign	Het
Hnrnpm	C	T	17: 33,888,142 (GRCm39)		probably null	Het
Lrrk2	T	A	15: 91,651,542 (GRCm39)	Y1733N	probably damaging	Het
Mindy1	T	C	3: 95,195,701 (GRCm39)	L148P	probably damaging	Het
Mkrn2	C	A	6: 115,588,750 (GRCm39)	Y164*	probably null	Het
Msra	T	C	14: 64,447,884 (GRCm39)	Y135C	probably damaging	Het
Ndst3	C	T	3: 123,342,565 (GRCm39)	A749T	probably damaging	Het
Ngdn	G	T	14: 55,254,571 (GRCm39)	A41S	probably benign	Het
Nlrp12	A	T	7: 3,288,722 (GRCm39)	S597T	probably damaging	Het
Or5b99	A	T	19: 12,976,781 (GRCm39)	I144F	probably damaging	Het
Pabpc6	A	G	17: 9,886,899 (GRCm39)	S551P	probably benign	Het
Plekhg5	C	T	4: 152,197,010 (GRCm39)	A752V	probably benign	Het
Prpf4b	T	C	13: 35,068,274 (GRCm39)	S368P	probably benign	Het
Pus7	A	G	5: 23,951,422 (GRCm39)		probably null	Het
Rad23b	T	C	4: 55,366,774 (GRCm39)		probably benign	Het
Rgs13	T	C	1: 144,047,152 (GRCm39)		probably benign	Het
Slc9a9	T	A	9: 94,937,512 (GRCm39)	S455T	probably benign	Het
Slco1a1	A	G	6: 141,878,256 (GRCm39)		probably benign	Het
Tmem26	A	T	10: 68,614,436 (GRCm39)	N284Y	probably damaging	Het
Tmem87a	T	C	2: 120,211,250 (GRCm39)	I232V	probably benign	Het
Trpm2	A	G	10: 77,759,818 (GRCm39)	L1106P	probably damaging	Het
Vmn1r18	T	C	6: 57,366,652 (GRCm39)		probably benign	Het
Zfp213	G	T	17: 23,780,391 (GRCm39)	A43D	probably benign	Het
Zfp365	A	G	10: 67,745,184 (GRCm39)	V198A	probably damaging	Het
Zfp395	T	A	14: 65,632,200 (GRCm39)		probably null	Het
Zfp618	G	A	4: 63,051,063 (GRCm39)	V615M	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
IGL00578:Sfpq	APN	4	126,919,700 (GRCm39)	missense	probably damaging	1.00
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

2013-10-07