Mutagenetix > Incidental Mutation

Incidental Mutation 'R6143:Srsf1'

488692

Institutional Source

Beutler Lab

Gene Symbol

Srsf1

Ensembl Gene

ENSMUSG00000018379

Gene Name

serine and arginine-rich splicing factor 1

Synonyms

1110054N12Rik, 6330415C05Rik, 5730507C05Rik, Sfrs1

MMRRC Submission

044290-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6143 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87938199-87944581 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 87940425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079866] [ENSMUST00000107920] [ENSMUST00000139129]

AlphaFold

Q6PDM2

Predicted Effect

probably benign
Transcript: ENSMUST00000079866

SMART Domains

Protein: ENSMUSP00000133517
Gene: ENSMUSG00000018379

Domain	Start	End	E-Value	Type
RRM	17	87	2.85e-19	SMART
low complexity region	89	119	N/A	INTRINSIC
RRM	122	188	4.97e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107920

SMART Domains

Protein: ENSMUSP00000103553
Gene: ENSMUSG00000018379

Domain	Start	End	E-Value	Type
RRM	17	87	2.85e-19	SMART
low complexity region	89	119	N/A	INTRINSIC
RRM	122	188	1.39e-8	SMART
low complexity region	196	246	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129337

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132983

Predicted Effect

probably benign
Transcript: ENSMUST00000134824

SMART Domains

Protein: ENSMUSP00000114549
Gene: ENSMUSG00000018379

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
RRM	32	98	1.43e-10	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000139129
AA Change: R247H

SMART Domains

Protein: ENSMUSP00000120595
Gene: ENSMUSG00000018379
AA Change: R247H

Domain	Start	End	E-Value	Type
RRM	17	87	2.85e-19	SMART
low complexity region	89	119	N/A	INTRINSIC
RRM	122	188	1.39e-8	SMART
low complexity region	196	247	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171976

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181900

Predicted Effect

probably benign
Transcript: ENSMUST00000172186

SMART Domains

Protein: ENSMUSP00000128190
Gene: ENSMUSG00000018379

Domain	Start	End	E-Value	Type
SCOP:d1fjeb2	17	43	5e-3	SMART
PDB:2M8D\|B	22	47	8e-12	PDB
Blast:RRM	25	47	1e-8	BLAST

Meta Mutation Damage Score

0.0595

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous null mice display early embryonic lethality. Cardiac specific conditional deletion mutants shows cardiac malfunction and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	A	G	14: 55,797,736 (GRCm39)		probably benign	Het
Abcd2	A	T	15: 91,075,150 (GRCm39)	V221E	possibly damaging	Het
Arhgap39	T	A	15: 76,614,606 (GRCm39)	K853*	probably null	Het
Art2a	T	C	7: 101,204,430 (GRCm39)	D36G	possibly damaging	Het
Atp13a1	C	T	8: 70,258,010 (GRCm39)	P922S	probably benign	Het
Brwd1	C	T	16: 95,804,156 (GRCm39)	G2005R	probably benign	Het
Bzw2	A	T	12: 36,170,725 (GRCm39)	M133K	probably benign	Het
Cacna1s	T	G	1: 136,004,496 (GRCm39)	S346A	probably damaging	Het
Cebpb	C	A	2: 167,531,220 (GRCm39)	D93E	probably benign	Het
Cep162	C	A	9: 87,094,904 (GRCm39)		probably null	Het
Col9a2	A	T	4: 120,911,060 (GRCm39)	Y565F	probably damaging	Het
Csgalnact1	T	A	8: 68,826,202 (GRCm39)	N372I	probably damaging	Het
Csmd1	T	C	8: 16,138,315 (GRCm39)	D1579G	probably damaging	Het
Cyfip2	A	C	11: 46,144,792 (GRCm39)	Y687*	probably null	Het
Cyp2d34	G	A	15: 82,504,977 (GRCm39)	R28W	probably benign	Het
Dbndd2	C	A	2: 164,330,206 (GRCm39)	Q13K	probably damaging	Het
Dnah5	T	A	15: 28,233,377 (GRCm39)	S245R	probably benign	Het
Dnajb5	A	T	4: 42,956,990 (GRCm39)	T226S	probably damaging	Het
Dnmt1	T	C	9: 20,838,430 (GRCm39)	E211G	probably benign	Het
Dnpep	G	A	1: 75,291,872 (GRCm39)	H214Y	probably damaging	Het
Drc3	G	A	11: 60,261,406 (GRCm39)	V186M	possibly damaging	Het
Dvl3	A	G	16: 20,345,789 (GRCm39)	D413G	possibly damaging	Het
Dyrk4	C	T	6: 126,863,614 (GRCm39)		probably null	Het
Edc4	T	A	8: 106,612,506 (GRCm39)	D181E	probably damaging	Het
Enthd1	T	C	15: 80,393,487 (GRCm39)	Y247C	possibly damaging	Het
Gm5622	A	T	14: 51,892,372 (GRCm39)	R50S	possibly damaging	Het
Gpbp1	G	A	13: 111,603,389 (GRCm39)	T20I	probably damaging	Het
Hnrnpdl	A	T	5: 100,184,410 (GRCm39)	Y276*	probably null	Het
Hsd3b7	A	C	7: 127,400,404 (GRCm39)	E51A	probably damaging	Het
Ighv5-16	G	T	12: 113,802,238 (GRCm39)	F87L	probably damaging	Het
Iqsec1	C	T	6: 90,786,666 (GRCm39)		probably null	Het
Irgm2	A	T	11: 58,111,435 (GRCm39)	E387D	possibly damaging	Het
Klhl23	C	A	2: 69,664,040 (GRCm39)	P463Q	possibly damaging	Het
Mast4	A	T	13: 102,990,391 (GRCm39)	N43K	probably damaging	Het
Mme	T	G	3: 63,207,532 (GRCm39)		probably null	Het
Mrps31	T	G	8: 22,901,539 (GRCm39)	S20A	probably benign	Het
Myo5c	A	G	9: 75,157,091 (GRCm39)	R176G	probably damaging	Het
Naf1	T	C	8: 67,330,347 (GRCm39)	V291A	possibly damaging	Het
Nbeal1	A	T	1: 60,290,466 (GRCm39)	H1021L	possibly damaging	Het
Ncaph2	T	C	15: 89,248,206 (GRCm39)		probably null	Het
Neurod4	T	G	10: 130,106,869 (GRCm39)	Y135S	probably damaging	Het
Nrp2	A	T	1: 62,799,974 (GRCm39)	N396I	probably damaging	Het
Nvl	T	G	1: 180,962,560 (GRCm39)	T137P	probably benign	Het
Or5p59	A	G	7: 107,703,335 (GRCm39)	D273G	probably damaging	Het
Papola	T	C	12: 105,793,219 (GRCm39)	V513A	probably benign	Het
Pcdhgc4	T	A	18: 37,950,653 (GRCm39)	S690T	possibly damaging	Het
Pck1	A	T	2: 172,995,805 (GRCm39)	D101V	probably damaging	Het
Pdilt	T	A	7: 119,094,265 (GRCm39)	N329Y	probably damaging	Het
Pfkl	T	A	10: 77,825,447 (GRCm39)	R648W	probably damaging	Het
Prtn3	T	A	10: 79,716,382 (GRCm39)	I63N	probably damaging	Het
Psg22	C	T	7: 18,456,723 (GRCm39)	A163V	probably benign	Het
Pten	A	G	19: 32,777,485 (GRCm39)	T160A	possibly damaging	Het
Retreg2	A	G	1: 75,123,530 (GRCm39)	D449G	probably damaging	Het
Scn9a	T	C	2: 66,317,868 (GRCm39)	Y1531C	probably benign	Het
Sgk2	T	A	2: 162,841,174 (GRCm39)	C195S	probably damaging	Het
Slc19a3	C	T	1: 83,004,060 (GRCm39)	V14I	probably benign	Het
Snai2	A	T	16: 14,526,107 (GRCm39)	R253*	probably null	Het
Speg	G	A	1: 75,391,031 (GRCm39)	V1512I	probably damaging	Het
Tctn3	G	T	19: 40,597,671 (GRCm39)	T190N	probably benign	Het
Tmprss11f	T	A	5: 86,687,558 (GRCm39)	I117L	probably benign	Het
Ttn	G	A	2: 76,682,413 (GRCm39)	R959*	probably null	Het
Vmn2r118	G	T	17: 55,899,871 (GRCm39)	L678I	possibly damaging	Het
Vps13b	T	C	15: 35,668,884 (GRCm39)	S1594P	probably damaging	Het
Vps13d	G	T	4: 144,875,135 (GRCm39)	H1791N	possibly damaging	Het

Other mutations in Srsf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01365:Srsf1	APN	11	87,940,007 (GRCm39)	missense	possibly damaging	0.88
IGL02949:Srsf1	APN	11	87,940,352 (GRCm39)	intron	probably benign
IGL03100:Srsf1	APN	11	87,939,954 (GRCm39)	missense	probably damaging	1.00
R4898:Srsf1	UTSW	11	87,940,788 (GRCm39)	splice site	probably null
R5261:Srsf1	UTSW	11	87,938,684 (GRCm39)	missense	possibly damaging	0.96
R5328:Srsf1	UTSW	11	87,940,819 (GRCm39)	utr 3 prime	probably benign
R5593:Srsf1	UTSW	11	87,938,705 (GRCm39)	missense	possibly damaging	0.47
R5849:Srsf1	UTSW	11	87,938,684 (GRCm39)	missense	possibly damaging	0.56
R7151:Srsf1	UTSW	11	87,940,084 (GRCm39)	nonsense	probably null
R8099:Srsf1	UTSW	11	87,940,082 (GRCm39)	missense	probably benign
R8294:Srsf1	UTSW	11	87,939,467 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTTAAAGTTGATGGGCCCAG -3'
(R):5'- ATCACAGTCTGAAGAGCATGG -3'

Sequencing Primer
(F):5'- TGGGCCCAGAAGTCCAAGTTATG -3'
(R):5'- CAGTCTGAAGAGCATGGAAATTAAC -3'

Posted On

2017-10-10