Mutagenetix > Incidental Mutation

Incidental Mutation 'R5849:Srsf1'

453791

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

044066-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5849 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87938199-87944581 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87938684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 7 (I7T)

Ref Sequence

ENSEMBL: ENSMUSP00000120595 (fasta)

Gene Model

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

AlphaFold

Q6PDM2

PDB Structure

Solution structure of RRM domain in splicing factor 2 [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079866
AA Change: I7T

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133517
Gene: ENSMUSG00000018379
AA Change: I7T

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

possibly damaging
Transcript: ENSMUST00000107920
AA Change: I7T

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103553
Gene: ENSMUSG00000018379
AA Change: I7T

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

possibly damaging
Transcript: ENSMUST00000139129
AA Change: I7T

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120595
Gene: ENSMUSG00000018379
AA Change: I7T

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

0.0807

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

96% (72/75)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Agbl1	T	C	7: 75,974,846 (GRCm39)	S113P	probably benign	Het
Ak9	A	G	10: 41,224,045 (GRCm39)	D486G	probably benign	Het
Aopep	A	G	13: 63,163,312 (GRCm39)	D111G	probably benign	Het
Arhgap11a	T	C	2: 113,665,192 (GRCm39)	S469G	probably null	Het
Comtd1	C	T	14: 21,898,188 (GRCm39)	G48D	probably damaging	Het
Cyp27a1	T	C	1: 74,775,843 (GRCm39)	S343P	probably damaging	Het
Dcun1d1	T	A	3: 35,970,333 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,744,223 (GRCm39)	I1404T	possibly damaging	Het
Dlgap5	A	G	14: 47,626,892 (GRCm39)	S766P	possibly damaging	Het
Ebf1	T	A	11: 44,881,331 (GRCm39)		probably null	Het
Flcn	T	A	11: 59,695,586 (GRCm39)	I4L	probably damaging	Het
Gm57858	A	T	3: 36,087,026 (GRCm39)	D189E	possibly damaging	Het
Grin2c	T	C	11: 115,151,817 (GRCm39)	T48A	probably benign	Het
Hyal5	T	A	6: 24,891,555 (GRCm39)	S456R	probably benign	Het
Igf1r	A	G	7: 67,839,781 (GRCm39)	D696G	probably benign	Het
Iqgap1	A	T	7: 80,452,906 (GRCm39)	V13D	probably benign	Het
Itgal	A	G	7: 126,916,492 (GRCm39)	N728S	probably benign	Het
Kcnb1	T	A	2: 166,947,946 (GRCm39)	I301F	probably damaging	Het
Kcnd3	A	G	3: 105,366,111 (GRCm39)		probably benign	Het
Kdm4a	C	T	4: 118,019,037 (GRCm39)	R393Q	probably benign	Het
Lcn9	G	A	2: 25,713,268 (GRCm39)		probably null	Het
Madcam1	T	A	10: 79,500,824 (GRCm39)	M47K	probably benign	Het
Matn3	A	G	12: 9,008,829 (GRCm39)	Q314R	probably benign	Het
Msh3	A	T	13: 92,386,386 (GRCm39)	D826E	possibly damaging	Het
Muc4	A	T	16: 32,595,213 (GRCm39)	T3088S	possibly damaging	Het
Mup3	T	G	4: 62,005,172 (GRCm39)		probably null	Het
Myo15b	A	G	11: 115,772,759 (GRCm39)	K1807E	probably damaging	Het
Myrip	A	G	9: 120,282,759 (GRCm39)	D688G	probably damaging	Het
Nup153	A	G	13: 46,840,452 (GRCm39)	F1052S	probably damaging	Het
Oplah	T	A	15: 76,181,547 (GRCm39)		probably benign	Het
Or4f14d	A	T	2: 111,960,223 (GRCm39)	I311K	probably benign	Het
Or52r1c	T	A	7: 102,734,728 (GRCm39)	M1K	probably null	Het
Or6z3	A	T	7: 6,463,993 (GRCm39)	I162F	possibly damaging	Het
Or9g19	A	T	2: 85,600,768 (GRCm39)	I208F	probably benign	Het
Pacsin2	A	G	15: 83,274,719 (GRCm39)	F120L	possibly damaging	Het
Ppp1r36	C	A	12: 76,485,931 (GRCm39)	P363Q	probably damaging	Het
Rai1	C	A	11: 60,081,347 (GRCm39)	H1804N	possibly damaging	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Rnf214	G	A	9: 45,779,386 (GRCm39)	P455S	probably damaging	Het
Rnf220	T	C	4: 117,134,809 (GRCm39)	T188A	possibly damaging	Het
S1pr4	C	T	10: 81,335,157 (GRCm39)	V106M	possibly damaging	Het
Sall2	C	A	14: 52,551,704 (GRCm39)	S495I	probably benign	Het
Sars2	A	G	7: 28,443,683 (GRCm39)	E95G	possibly damaging	Het
Sema3f	G	A	9: 107,559,815 (GRCm39)	T693M	probably damaging	Het
Slfn2	C	A	11: 82,960,402 (GRCm39)	T127K	probably benign	Het
Snrpe	T	A	1: 133,536,652 (GRCm39)	I43L	probably benign	Het
Ssbp1	T	A	6: 40,453,837 (GRCm39)		probably benign	Het
Stbd1	T	G	5: 92,752,854 (GRCm39)	F115V	probably benign	Het
Stk11ip	T	A	1: 75,503,999 (GRCm39)		probably null	Het
Taf1b	T	A	12: 24,550,524 (GRCm39)	N36K	probably damaging	Het
Tanc1	A	T	2: 59,630,248 (GRCm39)	M743L	probably benign	Het
Tnfsf12	C	A	11: 69,577,793 (GRCm39)	R208L	probably damaging	Het
Trafd1	T	C	5: 121,511,534 (GRCm39)	D428G	probably damaging	Het
Trim24	A	G	6: 37,934,664 (GRCm39)	E793G	probably damaging	Het
Tspan32	T	C	7: 142,569,324 (GRCm39)	C100R	probably damaging	Het
Ttn	T	C	2: 76,576,586 (GRCm39)	D16442G	probably damaging	Het
Ube3c	T	A	5: 29,863,407 (GRCm39)	L894Q	probably damaging	Het
Wfs1	C	G	5: 37,130,608 (GRCm39)	G213R	probably damaging	Het
Zfp384	G	A	6: 125,001,062 (GRCm39)	A45T	possibly damaging	Het
Zfp865	G	T	7: 5,034,086 (GRCm39)	K690N	probably 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
R6143:Srsf1	UTSW	11	87,940,425 (GRCm39)	intron	probably benign
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'- GATAAAGGCGCCATTTTGGAG -3'
(R):5'- CATTATGTTCCAAGGCCTCCGAG -3'

Sequencing Primer
(F):5'- CATTTTGGAGCGGCCGC -3'
(R):5'- ACGCTATCTCCTCAAGGCCG -3'

Posted On

2017-02-10