Mutagenetix > Incidental Mutation

Incidental Mutation 'R7446:Srsf6'

577277

Institutional Source

Beutler Lab

Gene Symbol

Srsf6

Ensembl Gene

ENSMUSG00000016921

Gene Name

serine and arginine-rich splicing factor 6

Synonyms

1210001E11Rik, Sfrs6

MMRRC Submission

045522-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.786) question?

Stock #

R7446 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

162773448-162779041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 162776636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 327 (S327T)

Ref Sequence

ENSEMBL: ENSMUSP00000119065 (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: S327T

SMART Domains

Protein: ENSMUSP00000119065
Gene: ENSMUSG00000016921
AA Change: S327T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,950,441 (GRCm39)	D1446G	probably benign	Het
Adgrg1	A	G	8: 95,738,412 (GRCm39)	Y635C	probably damaging	Het
Akr1cl	G	A	1: 65,055,837 (GRCm39)	R222W	probably damaging	Het
C2	G	A	17: 35,094,986 (GRCm39)	R250C	probably damaging	Het
Cdk15	A	G	1: 59,328,854 (GRCm39)	Y254C	probably damaging	Het
Celsr1	T	C	15: 85,791,874 (GRCm39)	T2576A	possibly damaging	Het
Cfap61	C	T	2: 145,995,758 (GRCm39)	R1108C	probably benign	Het
Clca3a1	A	G	3: 144,733,188 (GRCm39)	S107P	possibly damaging	Het
Cplane1	A	G	15: 8,261,564 (GRCm39)	D2460G	probably damaging	Het
Cpsf1	A	G	15: 76,485,950 (GRCm39)	S407P	probably benign	Het
Crisp4	T	C	1: 18,192,962 (GRCm39)	T252A	probably damaging	Het
Ctbs	A	G	3: 146,164,573 (GRCm39)	Y242C	probably damaging	Het
Cul4a	A	G	8: 13,186,874 (GRCm39)	T537A	probably benign	Het
D930020B18Rik	T	C	10: 121,503,650 (GRCm39)	I275T	possibly damaging	Het
Dcaf7	T	C	11: 105,944,561 (GRCm39)	V248A	probably benign	Het
Def8	T	C	8: 124,181,061 (GRCm39)	C153R	probably damaging	Het
Dennd1a	A	T	2: 37,706,991 (GRCm39)	V505D	possibly damaging	Het
Dpysl5	A	C	5: 30,936,231 (GRCm39)	D207A	probably benign	Het
Dync2h1	A	T	9: 7,041,720 (GRCm39)	S3307R	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Erf	A	T	7: 24,945,556 (GRCm39)	C72S	probably damaging	Het
Fastkd3	A	T	13: 68,740,079 (GRCm39)	H47L	unknown	Het
Gm5591	C	T	7: 38,218,933 (GRCm39)	E647K	probably benign	Het
Gng12	TGTCCAGCAAG	TG	6: 66,992,736 (GRCm39)		probably benign	Het
Guk1	T	C	11: 59,076,850 (GRCm39)	T78A	probably benign	Het
Hephl1	T	C	9: 15,009,347 (GRCm39)	T82A	probably damaging	Het
Htra4	A	G	8: 25,527,181 (GRCm39)	S205P	probably benign	Het
Jakmip2	T	C	18: 43,710,390 (GRCm39)	D271G	probably damaging	Het
Krt16	CAGTATCTG	C	11: 100,137,610 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,561,069 (GRCm39)	E286V		Het
Lrp2	C	A	2: 69,262,557 (GRCm39)	G4415W	probably damaging	Het
Lrp2	C	T	2: 69,290,018 (GRCm39)	R3607H	probably damaging	Het
Mcph1	A	G	8: 18,721,109 (GRCm39)	K646E	probably benign	Het
Mgam	T	C	6: 40,723,266 (GRCm39)	L457P	probably damaging	Het
Mink1	T	A	11: 70,500,455 (GRCm39)	S802T	probably benign	Het
Mrgprb5	C	T	7: 47,818,252 (GRCm39)	G161E	possibly damaging	Het
Mroh1	G	A	15: 76,336,472 (GRCm39)	G1565D	possibly damaging	Het
Mynn	A	G	3: 30,661,201 (GRCm39)	K51R	probably benign	Het
Myo1b	A	G	1: 51,803,065 (GRCm39)	F872S	possibly damaging	Het
Nbas	A	T	12: 13,443,499 (GRCm39)	T1185S	probably benign	Het
Oas1d	A	T	5: 121,058,054 (GRCm39)	I333L	probably benign	Het
Or10ak9	A	T	4: 118,726,019 (GRCm39)	I14F	possibly damaging	Het
Or4d10	A	G	19: 12,051,061 (GRCm39)	*312Q	probably null	Het
P2ry12	A	G	3: 59,124,632 (GRCm39)	*348Q	probably null	Het
Pik3cb	A	T	9: 98,928,711 (GRCm39)	V848E	probably damaging	Het
Plcz1	A	C	6: 139,959,312 (GRCm39)	S282A	possibly damaging	Het
Prss46	A	G	9: 110,679,189 (GRCm39)	D130G	probably damaging	Het
Pygl	T	C	12: 70,243,784 (GRCm39)	I644V	probably benign	Het
Ralgds	T	A	2: 28,435,901 (GRCm39)	S509T	probably damaging	Het
Rdh16f2	A	G	10: 127,712,767 (GRCm39)	D255G	probably benign	Het
Scaf4	T	C	16: 90,055,658 (GRCm39)	D133G	unknown	Het
Sdk1	G	A	5: 142,130,731 (GRCm39)	S1630N	probably damaging	Het
Sema5b	C	T	16: 35,467,573 (GRCm39)	T279I	probably damaging	Het
Slc24a3	T	A	2: 145,422,902 (GRCm39)	L207H	probably damaging	Het
Speer2	A	T	16: 69,654,965 (GRCm39)	S167T	possibly damaging	Het
Spock1	A	G	13: 57,583,898 (GRCm39)	I339T	unknown	Het
Syne1	T	A	10: 5,172,266 (GRCm39)	E5058D	probably benign	Het
Tcf19	A	G	17: 35,825,428 (GRCm39)	V243A	probably benign	Het
Tspan15	T	C	10: 62,029,734 (GRCm39)	D122G	probably benign	Het
Ttc17	C	T	2: 94,205,495 (GRCm39)	V284M	probably damaging	Het
Usp29	A	C	7: 6,964,219 (GRCm39)	T21P	possibly damaging	Het
Uspl1	T	A	5: 149,141,082 (GRCm39)	C360*	probably null	Het
Vmn1r181	A	C	7: 23,684,356 (GRCm39)	S274R	probably benign	Het
Xrcc5	T	C	1: 72,433,132 (GRCm39)		probably null	Het
Zfp277	C	T	12: 40,378,729 (GRCm39)	R376H	probably damaging	Het
Zfp629	T	C	7: 127,210,201 (GRCm39)	E536G	probably benign	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
R4293: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
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'- GGGAAGTCACGTAGTAGGTCAC -3'
(R):5'- GAGGGCTTCATACCACCATTTTAG -3'

Sequencing Primer
(F):5'- TCACGTAGTAGGTCACGGTCTC -3'
(R):5'- TTTGGCCACAAATCAAATTCCGG -3'

Posted On

2019-10-07