Mutagenetix > Incidental Mutation

Incidental Mutation 'R9111:Sfpq'

692243

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

068971-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9111 (G1)

Quality Score

115.467

Status

Not validated

Chromosome

Chromosomal Location

126915117-126930806 bp(+) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

CCAGCAGCAGCAGCAGC to CCAGCAGCAGCAGC at 126915401 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (47/47)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	T	C	8: 124,696,646 (GRCm39)	N210S		Het
Adamts17	A	G	7: 66,489,648 (GRCm39)	D22G	probably damaging	Het
Aldh3b1	T	C	19: 3,971,797 (GRCm39)	E58G	probably damaging	Het
Atg2a	G	A	19: 6,311,534 (GRCm39)	A1830T	probably damaging	Het
Birc6	T	C	17: 74,966,340 (GRCm39)	V4118A	probably damaging	Het
Ccdc28a	G	A	10: 18,100,750 (GRCm39)	P73S	possibly damaging	Het
Cdc42bpb	A	T	12: 111,284,903 (GRCm39)	D771E	probably benign	Het
Cdk14	G	A	5: 5,315,985 (GRCm39)	P13S	possibly damaging	Het
Cdr2	G	A	7: 120,559,345 (GRCm39)	S158F	possibly damaging	Het
Cfap44	A	T	16: 44,252,326 (GRCm39)	T812S	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cp	A	T	3: 20,027,949 (GRCm39)	I452F	probably damaging	Het
Dcdc2c	T	A	12: 28,585,488 (GRCm39)	I2F	probably damaging	Het
Dlat	G	A	9: 50,570,906 (GRCm39)		probably benign	Het
Dock1	A	G	7: 134,601,017 (GRCm39)	D984G	possibly damaging	Het
Dsc2	T	C	18: 20,167,764 (GRCm39)	I710V	probably benign	Het
Eif4e	A	G	3: 138,252,122 (GRCm39)	E20G	probably benign	Het
Fbxw16	T	C	9: 109,265,679 (GRCm39)	Y380C	probably damaging	Het
Fscn3	A	G	6: 28,430,310 (GRCm39)	D160G	probably damaging	Het
Gm9195	G	A	14: 72,694,123 (GRCm39)	Q1531*	probably null	Het
Hps3	T	C	3: 20,084,575 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igsf1	C	T	X: 48,875,736 (GRCm39)	E755K	probably null	Het
Kalrn	A	G	16: 34,181,371 (GRCm39)	V89A	probably damaging	Het
Kcng1	C	A	2: 168,104,535 (GRCm39)	G437V	probably damaging	Het
Krt82	C	T	15: 101,451,786 (GRCm39)	R343Q	probably benign	Het
Lbr	T	C	1: 181,645,068 (GRCm39)	D528G	possibly damaging	Het
Macf1	T	C	4: 123,406,819 (GRCm39)	E256G	probably damaging	Het
Mier2	T	C	10: 79,381,285 (GRCm39)		probably benign	Het
Mmp9	T	A	2: 164,792,726 (GRCm39)		probably null	Het
Myrf	A	G	19: 10,191,421 (GRCm39)		probably null	Het
Ncor1	T	A	11: 62,280,585 (GRCm39)	T82S	possibly damaging	Het
Or4c107	G	A	2: 88,789,055 (GRCm39)	V82I	probably benign	Het
P2rx6	G	T	16: 17,385,627 (GRCm39)	W176L	probably benign	Het
Pde4b	A	G	4: 102,454,657 (GRCm39)	E108G	probably damaging	Het
Pik3c2a	A	G	7: 115,993,531 (GRCm39)	V412A	probably damaging	Het
Prkd2	A	G	7: 16,584,131 (GRCm39)	E328G	probably benign	Het
Prmt1	A	C	7: 44,631,169 (GRCm39)	V114G	probably damaging	Het
Rnf133	G	A	6: 23,648,928 (GRCm39)	H334Y	probably benign	Het
Rps18-ps5	T	A	13: 28,441,626 (GRCm39)	L3Q	probably damaging	Het
Secisbp2l	A	G	2: 125,602,206 (GRCm39)	S385P	probably benign	Het
Sel1l3	A	T	5: 53,279,213 (GRCm39)		probably benign	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,640,271 (GRCm39)		probably benign	Het
Slc35e1	G	A	8: 73,246,030 (GRCm39)	P134L		Het
Slc5a4b	A	T	10: 75,925,827 (GRCm39)		probably benign	Het
Slc9a3	A	G	13: 74,298,920 (GRCm39)	Y113C	probably damaging	Het
Ugt3a1	T	C	15: 9,306,333 (GRCm39)	F161L	possibly damaging	Het
Zhx2	T	C	15: 57,685,984 (GRCm39)	I451T	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
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
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'- ATGTCTCGGGATCGGTTCC -3'
(R):5'- GAGATCTTCTCCTCCGTGCG -3'

Sequencing Primer
(F):5'- ATCGGTTCCGGAGTCGC -3'
(R):5'- TCGAGACTCCGCTGCTC -3'

Posted On

2021-12-30