Mutagenetix > Incidental Mutation

Incidental Mutation 'R5034:Sfpq'

389431

Institutional Source

Beutler Lab

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

MMRRC Submission

042625-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126915117-126930806 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 126917462 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (67/69)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,136,090 (GRCm39)	S482T	probably benign	Het
Adam6b	G	T	12: 113,454,547 (GRCm39)	G455C	probably damaging	Het
Ahsg	C	A	16: 22,717,650 (GRCm39)	P237Q	probably damaging	Het
Asxl2	A	G	12: 3,552,193 (GRCm39)	S1312G	probably damaging	Het
Brinp3	C	T	1: 146,603,458 (GRCm39)		probably benign	Het
Col12a1	T	C	9: 79,564,649 (GRCm39)	H1677R	probably damaging	Het
Cops7a	A	G	6: 124,939,583 (GRCm39)		probably null	Het
Csmd2	G	A	4: 127,952,901 (GRCm39)	A117T	probably damaging	Het
Csmd3	T	C	15: 47,492,683 (GRCm39)	R3153G	possibly damaging	Het
Dctn4	A	G	18: 60,685,956 (GRCm39)	N342D	probably benign	Het
Dennd5a	A	T	7: 109,499,004 (GRCm39)	I953N	probably damaging	Het
Dmwd	T	C	7: 18,814,219 (GRCm39)	S290P	probably damaging	Het
Dsc1	T	A	18: 20,228,084 (GRCm39)	Y424F	possibly damaging	Het
Far2	C	A	6: 148,074,939 (GRCm39)	L391M	probably benign	Het
Foxd3	G	A	4: 99,545,327 (GRCm39)	G156S	probably damaging	Het
Galk2	A	T	2: 125,771,495 (GRCm39)	E173D	probably benign	Het
Hcar1	T	C	5: 124,017,732 (GRCm39)		probably benign	Het
Hsd17b11	C	T	5: 104,166,087 (GRCm39)	V91M	possibly damaging	Het
Ighv1-77	C	T	12: 115,825,494 (GRCm39)	C115Y	probably damaging	Het
Ighv9-2	A	G	12: 114,073,025 (GRCm39)	F9S	probably damaging	Het
Kdm6b	A	G	11: 69,292,736 (GRCm39)		probably benign	Het
Kif21a	T	A	15: 90,852,561 (GRCm39)	R890W	probably null	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Magel2	A	T	7: 62,029,616 (GRCm39)	H840L	unknown	Het
Mrgpra4	A	G	7: 47,631,317 (GRCm39)	F95L	probably benign	Het
Myo7b	A	G	18: 32,104,440 (GRCm39)	L1436P	probably damaging	Het
Nf1	C	T	11: 79,334,976 (GRCm39)	P943S	probably damaging	Het
Obscn	T	A	11: 58,952,502 (GRCm39)	R4153*	probably null	Het
Oosp2	T	C	19: 11,628,899 (GRCm39)	I67M	probably damaging	Het
Or5m13b	C	A	2: 85,753,891 (GRCm39)	S93Y	probably damaging	Het
Pcdh9	T	A	14: 93,564,285 (GRCm39)	D1023V	probably benign	Het
Pcdhb14	T	C	18: 37,581,859 (GRCm39)	S322P	probably damaging	Het
Pde2a	A	G	7: 101,151,231 (GRCm39)	D285G	probably benign	Het
Pde5a	G	C	3: 122,646,235 (GRCm39)	G809R	probably damaging	Het
Pde5a	G	T	3: 122,646,236 (GRCm39)	G809V	probably damaging	Het
Pphln1	T	C	15: 93,350,010 (GRCm39)	V120A	probably benign	Het
Rictor	T	C	15: 6,797,576 (GRCm39)	S311P	probably damaging	Het
Rilpl1	T	C	5: 124,631,887 (GRCm39)	D153G	probably damaging	Het
Rmdn3	G	T	2: 118,978,058 (GRCm39)	A181E	probably damaging	Het
Rnf213	G	A	11: 119,301,633 (GRCm39)	V369M	probably damaging	Het
Scyl1	T	A	19: 5,810,022 (GRCm39)	R601S	probably benign	Het
Sdcbp	G	A	4: 6,393,118 (GRCm39)		probably null	Het
Septin8	A	G	11: 53,425,265 (GRCm39)	T53A	probably damaging	Het
Slc35b3	A	G	13: 39,127,134 (GRCm39)	Y163H	probably damaging	Het
Sra1	A	G	18: 36,812,048 (GRCm39)		probably null	Het
Sspo	A	T	6: 48,457,757 (GRCm39)	N3231Y	possibly damaging	Het
Tcf3	A	G	10: 80,253,377 (GRCm39)	V218A	possibly damaging	Het
Tgm3	T	C	2: 129,879,404 (GRCm39)	V332A	possibly damaging	Het
Tmprss11f	C	T	5: 86,739,243 (GRCm39)		probably benign	Het
Trbv4	A	G	6: 41,036,624 (GRCm39)	T50A	probably benign	Het
Trdv2-2	C	A	14: 54,198,882 (GRCm39)	Y57*	probably null	Het
Trim50	T	C	5: 135,396,147 (GRCm39)	V365A	possibly damaging	Het
Ubash3b	T	C	9: 40,941,036 (GRCm39)	Q245R	probably benign	Het
Ulk3	T	A	9: 57,501,047 (GRCm39)	V338E	possibly damaging	Het
Usf3	A	C	16: 44,036,762 (GRCm39)	K414T	probably damaging	Het
Usp48	C	T	4: 137,334,068 (GRCm39)	R161*	probably null	Het
Vps18	A	T	2: 119,123,787 (GRCm39)	D238V	probably benign	Het
Vps35l	T	C	7: 118,390,611 (GRCm39)	V368A	probably damaging	Het
Zfp354c	T	C	11: 50,705,866 (GRCm39)	E403G	probably benign	Het
Zscan18	A	G	7: 12,508,072 (GRCm39)	V476A	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCATTGTTGAGTTTGCTTCCAA -3'
(R):5'- GGCTCATTTTCCCCACCAATAA -3'

Sequencing Primer
(F):5'- GCTTCCAAGCCAGCAGC -3'
(R):5'- TAACACTGGCATGATGGCTC -3'

Posted On

2016-06-06