Mutagenetix > Incidental Mutation

Incidental Mutation 'R4293:Srsf6'

323155

Institutional Source

Beutler Lab

Gene Symbol

Srsf6

Ensembl Gene

ENSMUSG00000016921

Gene Name

serine and arginine-rich splicing factor 6

Synonyms

1210001E11Rik, Sfrs6

MMRRC Submission

041082-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.778) question?

Stock #

R4293 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

162773448-162779041 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 162776636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017065] [ENSMUST00000126163] [ENSMUST00000130411]

AlphaFold

Q3TWW8

Predicted Effect

probably benign
Transcript: ENSMUST00000017065

SMART Domains

Protein: ENSMUSP00000142183
Gene: ENSMUSG00000016921

Domain	Start	End	E-Value	Type
RRM	3	68	2.62e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126163

SMART Domains

Protein: ENSMUSP00000141349
Gene: ENSMUSG00000016921

Domain	Start	End	E-Value	Type
RRM	3	68	2.62e-18	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000130411
AA Change: S327P

SMART Domains

Protein: ENSMUSP00000119065
Gene: ENSMUSG00000016921
AA Change: S327P

Domain	Start	End	E-Value	Type
RRM	3	68	2.62e-18	SMART
low complexity region	74	100	N/A	INTRINSIC
RRM	111	179	6.97e-14	SMART
low complexity region	184	280	N/A	INTRINSIC
low complexity region	291	303	N/A	INTRINSIC
low complexity region	313	338	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193611

Meta Mutation Damage Score

0.2356

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

98% (60/61)

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. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	T	C	19: 4,915,468 (GRCm39)	E428G	probably benign	Het
Arfgef2	T	C	2: 166,732,211 (GRCm39)	I1600T	probably benign	Het
Arid3b	A	T	9: 57,697,713 (GRCm39)		probably benign	Het
Asgr2	C	A	11: 69,989,057 (GRCm39)	T167K	probably benign	Het
Atf6b	T	A	17: 34,871,648 (GRCm39)	M428K	probably benign	Het
Atpaf1	A	T	4: 115,645,556 (GRCm39)	M142L	probably benign	Het
Bivm	A	T	1: 44,177,793 (GRCm39)	R364S	probably damaging	Het
Bms1	T	C	6: 118,382,308 (GRCm39)		probably null	Het
Brwd1	G	A	16: 95,818,804 (GRCm39)	P1343S	probably damaging	Het
Cdca2	T	C	14: 67,952,299 (GRCm39)	D24G	probably benign	Het
Celsr2	T	C	3: 108,300,993 (GRCm39)	R2767G	probably benign	Het
Cip2a	T	A	16: 48,833,612 (GRCm39)	F571Y	probably benign	Het
Cyp2c55	A	T	19: 39,000,235 (GRCm39)	I145F	probably damaging	Het
Ddx18	T	C	1: 121,489,121 (GRCm39)	T309A	probably benign	Het
Dlg3	A	T	X: 99,840,288 (GRCm39)		probably benign	Het
Fbf1	A	G	11: 116,039,720 (GRCm39)	L713P	probably damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Fnbp1	A	G	2: 30,995,362 (GRCm39)	F24S	probably damaging	Het
Gm16686	A	T	4: 88,673,710 (GRCm39)		probably benign	Het
Gmps	A	G	3: 63,898,040 (GRCm39)	M275V	probably damaging	Het
Igdcc4	A	G	9: 65,031,892 (GRCm39)		probably null	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Kif18a	T	C	2: 109,123,398 (GRCm39)	V224A	probably benign	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Lmf1	T	C	17: 25,873,455 (GRCm39)	L320P	probably damaging	Het
Mapkapk3	T	C	9: 107,136,131 (GRCm39)		probably benign	Het
Mettl18	A	G	1: 163,824,171 (GRCm39)	D164G	probably damaging	Het
Myo5a	A	T	9: 75,051,453 (GRCm39)	T349S	probably benign	Het
Or1ad6	T	C	11: 50,860,253 (GRCm39)	M136T	probably damaging	Het
Or8d2b	A	G	9: 38,788,609 (GRCm39)	I46V	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Phf14	C	T	6: 11,987,096 (GRCm39)	P559S	probably damaging	Het
Pik3c3	G	A	18: 30,477,043 (GRCm39)	A855T	probably damaging	Het
Plpp4	A	G	7: 128,909,356 (GRCm39)	E22G	probably damaging	Het
Rev1	A	T	1: 38,147,500 (GRCm39)	D13E	possibly damaging	Het
Sec16a	A	G	2: 26,312,167 (GRCm39)	Y1998H	probably benign	Het
Slc4a5	C	T	6: 83,237,511 (GRCm39)	R165C	probably damaging	Het
Slfn10-ps	T	C	11: 82,926,260 (GRCm39)		noncoding transcript	Het
Slfn9	T	C	11: 82,873,334 (GRCm39)	N523S	probably benign	Het
Spata13	T	A	14: 60,947,004 (GRCm39)	M684K	probably damaging	Het
Stk32c	T	C	7: 138,700,704 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,848,693 (GRCm39)	T49A	probably damaging	Het
Tep1	T	C	14: 51,084,318 (GRCm39)	I954V	probably benign	Het
Tmem237	A	G	1: 59,158,995 (GRCm39)		probably benign	Het
Vmn2r101	A	T	17: 19,832,303 (GRCm39)	R766S	probably damaging	Het
Vwce	A	G	19: 10,636,996 (GRCm39)	T693A	probably benign	Het
Xpr1	A	G	1: 155,188,542 (GRCm39)	F366S	possibly damaging	Het
Zfp317	A	G	9: 19,557,990 (GRCm39)		probably null	Het

Other mutations in Srsf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Srsf6	APN	2	162,773,627 (GRCm39)	missense	probably damaging	1.00
IGL01960:Srsf6	APN	2	162,775,674 (GRCm39)	missense	probably damaging	1.00
R1292:Srsf6	UTSW	2	162,776,403 (GRCm39)	unclassified	probably benign
R1789:Srsf6	UTSW	2	162,776,408 (GRCm39)	unclassified	probably benign
R1936:Srsf6	UTSW	2	162,776,403 (GRCm39)	unclassified	probably benign
R1937:Srsf6	UTSW	2	162,776,403 (GRCm39)	unclassified	probably benign
R1939:Srsf6	UTSW	2	162,776,403 (GRCm39)	unclassified	probably benign
R1940:Srsf6	UTSW	2	162,776,403 (GRCm39)	unclassified	probably benign
R2225:Srsf6	UTSW	2	162,773,619 (GRCm39)	missense	probably damaging	1.00
R2226:Srsf6	UTSW	2	162,773,619 (GRCm39)	missense	probably damaging	1.00
R2227:Srsf6	UTSW	2	162,773,619 (GRCm39)	missense	probably damaging	1.00
R4026:Srsf6	UTSW	2	162,776,211 (GRCm39)	unclassified	probably benign
R4290:Srsf6	UTSW	2	162,776,636 (GRCm39)	unclassified	probably benign
R4292:Srsf6	UTSW	2	162,776,636 (GRCm39)	unclassified	probably benign
R4294:Srsf6	UTSW	2	162,776,636 (GRCm39)	unclassified	probably benign
R4295:Srsf6	UTSW	2	162,776,636 (GRCm39)	unclassified	probably benign
R4592:Srsf6	UTSW	2	162,773,643 (GRCm39)	missense	probably damaging	0.99
R4613:Srsf6	UTSW	2	162,775,629 (GRCm39)	missense	probably benign	0.45
R4657:Srsf6	UTSW	2	162,775,347 (GRCm39)	missense	probably benign	0.01
R7378:Srsf6	UTSW	2	162,776,489 (GRCm39)	missense	unknown
R7446:Srsf6	UTSW	2	162,776,636 (GRCm39)	missense	unknown
R7578:Srsf6	UTSW	2	162,774,782 (GRCm39)	missense	probably benign	0.00
R7730:Srsf6	UTSW	2	162,773,643 (GRCm39)	missense	probably damaging	0.99
R7908:Srsf6	UTSW	2	162,775,760 (GRCm39)	missense	unknown
R9498:Srsf6	UTSW	2	162,774,009 (GRCm39)	missense	probably benign	0.07
X0020:Srsf6	UTSW	2	162,775,418 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTCACGTAGTAGGTCACGG -3'
(R):5'- AAGGGAGAGGGCTTCATACCAC -3'

Sequencing Primer
(F):5'- ACGTAGTAGGTCACGGTCTCG -3'
(R):5'- GAGAGGGCTTCATACCACCATTTTAG -3'

Posted On

2015-06-20