Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01365:Srsf1'

75914

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srsf1

Ensembl Gene

ENSMUSG00000018379

Gene Name

serine and arginine-rich splicing factor 1

Synonyms

1110054N12Rik, 6330415C05Rik, 5730507C05Rik, Sfrs1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01365

Quality Score

Status

Chromosome

Chromosomal Location

87938199-87944581 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 87940007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 173 (R173L)

Ref Sequence

ENSEMBL: ENSMUSP00000133517 (fasta)

Gene Model

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

AlphaFold

Q6PDM2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079866
AA Change: R173L

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133517
Gene: ENSMUSG00000018379
AA Change: R173L

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: R173L

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103553
Gene: ENSMUSG00000018379
AA Change: R173L

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

unknown
Transcript: ENSMUST00000134824
AA Change: R82L

SMART Domains

Protein: ENSMUSP00000114549
Gene: ENSMUSG00000018379
AA Change: R82L

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: R173L

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120595
Gene: ENSMUSG00000018379
AA Change: R173L

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

Coding Region Coverage

Validation Efficiency

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	T	C	10: 85,469,680 (GRCm39)	V867A	possibly damaging	Het
Adgre5	G	T	8: 84,450,518 (GRCm39)		probably null	Het
Agtr1a	A	G	13: 30,565,811 (GRCm39)	Y292C	probably damaging	Het
CK137956	A	G	4: 127,845,135 (GRCm39)	S203P	probably benign	Het
Cnbd1	C	T	4: 18,860,576 (GRCm39)	G390D	probably damaging	Het
Cttnbp2nl	T	C	3: 104,912,346 (GRCm39)	T513A	probably damaging	Het
Dppa2	A	G	16: 48,134,276 (GRCm39)	K67R	possibly damaging	Het
Kif3a	A	G	11: 53,484,350 (GRCm39)	K486E	possibly damaging	Het
Lmnb2	G	T	10: 80,740,818 (GRCm39)	Q151K	probably benign	Het
Lmtk3	T	A	7: 45,440,331 (GRCm39)	L223Q	probably damaging	Het
Lrrk1	A	G	7: 65,937,449 (GRCm39)	I901T	probably damaging	Het
Macf1	T	C	4: 123,284,962 (GRCm39)	Y3624C	probably damaging	Het
Mios	T	A	6: 8,216,089 (GRCm39)	Y428*	probably null	Het
Myb	A	G	10: 21,028,401 (GRCm39)	I154T	probably benign	Het
Or14a256	T	C	7: 86,265,205 (GRCm39)	Y216C	probably damaging	Het
Parp9	C	T	16: 35,768,324 (GRCm39)	T168I	possibly damaging	Het
Pramel7	T	C	2: 87,321,757 (GRCm39)		probably benign	Het
Ptar1	T	A	19: 23,683,165 (GRCm39)	W140R	probably damaging	Het
Sec14l2	G	T	11: 4,048,317 (GRCm39)	D400E	probably benign	Het
Setd3	A	T	12: 108,124,165 (GRCm39)	Y175N	probably damaging	Het
Slc5a8	C	T	10: 88,727,959 (GRCm39)		probably benign	Het
Slc8a3	A	G	12: 81,362,150 (GRCm39)	V223A	probably damaging	Het
Svep1	T	A	4: 58,100,878 (GRCm39)		probably null	Het
Tead2	T	A	7: 44,866,675 (GRCm39)	D11E	probably damaging	Het
Trappc12	T	A	12: 28,797,401 (GRCm39)	I44F	probably damaging	Het
Ttll9	T	C	2: 152,842,054 (GRCm39)	Y303H	possibly damaging	Het
Vmn1r28	T	A	6: 58,242,176 (GRCm39)	N6K	possibly damaging	Het

Other mutations in Srsf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-10-07