Mutagenetix > Incidental Mutations

Incidental Mutation 'R4592:Srsf6'

342883

Institutional Source

Beutler Lab

Gene Symbol

Srsf6

Ensembl Gene

ENSMUSG00000016921

Gene Name

serine/arginine-rich splicing factor 6

Synonyms

Sfrs6, 1210001E11Rik

MMRRC Submission

041808-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.779) question?

Stock #

R4592 (G1)

Quality Score

140

Status

Validated

Chromosome

Chromosomal Location

162931528-162937121 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 162931723 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 18 (I18T)

Ref Sequence

ENSEMBL: ENSMUSP00000141349 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000017065
AA Change: I18T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142183
Gene: ENSMUSG00000016921
AA Change: I18T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000126163
AA Change: I18T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141349
Gene: ENSMUSG00000016921
AA Change: I18T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000130411
AA Change: I18T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119065
Gene: ENSMUSG00000016921
AA Change: I18T

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

0.8156

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	G	11: 97,771,615	S144P	probably damaging	Het
4933430I17Rik	T	A	4: 62,538,927	V161E	possibly damaging	Het
Arhgap40	T	C	2: 158,546,709	V521A	possibly damaging	Het
Atrn	T	C	2: 130,999,130		probably benign	Het
Casp12	T	C	9: 5,352,923		probably benign	Het
Ccdc189	C	T	7: 127,585,491	R172H	probably benign	Het
Cenpf	G	A	1: 189,679,033	T318M	probably damaging	Het
Clcn2	T	C	16: 20,709,142	K525E	probably damaging	Het
Cntln	A	G	4: 84,971,182	T301A	probably benign	Het
Crat	T	C	2: 30,415,366		probably benign	Het
Cul5	A	G	9: 53,633,727		probably benign	Het
Cxcl14	A	T	13: 56,295,895	I34N	probably damaging	Het
Cyp2b19	A	G	7: 26,771,394	I487V	probably benign	Het
Cyp4a10	T	A	4: 115,529,493	F446I	probably damaging	Het
D430041D05Rik	T	A	2: 104,233,479	M659L	possibly damaging	Het
Dclk3	T	C	9: 111,467,895	F169S	probably damaging	Het
Ddx52	T	C	11: 83,957,480	I532T	probably damaging	Het
Dnm1	T	C	2: 32,336,011	D352G	probably damaging	Het
Eif4g2	T	C	7: 111,078,302	E174G	probably damaging	Het
Enpp6	G	T	8: 47,093,032	V386L	probably damaging	Het
Eps15l1	T	C	8: 72,341,394	D904G	probably damaging	Het
Esrrb	A	G	12: 86,518,830	Y356C	probably damaging	Het
Flt3	A	T	5: 147,354,699	S619T	possibly damaging	Het
Fndc7	A	T	3: 108,858,902	C716S	probably damaging	Het
Gm10125	T	C	18: 5,525,375		noncoding transcript	Het
Gm26996	T	A	6: 130,579,485		noncoding transcript	Het
Grik2	A	T	10: 49,422,615	F50I	possibly damaging	Het
Guf1	T	C	5: 69,566,443	V367A	possibly damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Ifnar2	T	C	16: 91,391,796	V55A	probably benign	Het
Impg1	T	A	9: 80,440,854	I33F	probably benign	Het
Ltbp4	A	C	7: 27,325,183	V674G	probably damaging	Het
Mroh2b	T	A	15: 4,918,290	L529H	probably damaging	Het
Negr1	T	C	3: 157,208,386		probably benign	Het
Neurog3	A	G	10: 62,133,820	T25A	probably damaging	Het
Olfr1241	T	A	2: 89,482,756	K126N	probably damaging	Het
Olfr1420	T	C	19: 11,896,762	V247A	probably benign	Het
Olfr181	T	C	16: 58,926,092	T160A	probably benign	Het
Olfr555	A	C	7: 102,659,478	Y219S	probably damaging	Het
Pax8	T	A	2: 24,443,189		probably benign	Het
Pcsk6	A	C	7: 65,931,732	I254L	possibly damaging	Het
Pde3a	A	G	6: 141,459,216	K389R	probably benign	Het
Rab3gap1	C	A	1: 127,925,259		probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rptor	A	G	11: 119,798,840	D321G	probably null	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Sdccag3	C	A	2: 26,388,897		probably benign	Het
Skp1a	T	C	11: 52,243,619	I59T	possibly damaging	Het
Slc23a3	T	G	1: 75,128,556	N456T	probably damaging	Het
Slc4a7	G	A	14: 14,778,850	G920S	probably damaging	Het
Smarcd3	T	C	5: 24,592,804	I467V	probably benign	Het
Spata31d1c	C	T	13: 65,036,060	A472V	probably damaging	Het
Stom	C	T	2: 35,323,746	G80D	probably damaging	Het
Svep1	A	T	4: 58,084,028	Y1915N	possibly damaging	Het
Tmf1	C	T	6: 97,173,400	V449I	probably benign	Het
Triobp	C	T	15: 78,967,095	A483V	probably benign	Het
Vdac1	G	A	11: 52,374,972		probably null	Het
Vmn2r75	T	G	7: 86,166,286	E123D	probably benign	Het
Vmn2r79	T	A	7: 87,004,111	V528D	possibly damaging	Het
Zdbf2	T	G	1: 63,306,591	N1376K	possibly damaging	Het

Other mutations in Srsf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Srsf6	APN	2	162931707	missense	probably damaging	1.00
IGL01960:Srsf6	APN	2	162933754	missense	probably damaging	1.00
R1292:Srsf6	UTSW	2	162934483	unclassified	probably benign
R1789:Srsf6	UTSW	2	162934488	unclassified	probably benign
R1936:Srsf6	UTSW	2	162934483	unclassified	probably benign
R1937:Srsf6	UTSW	2	162934483	unclassified	probably benign
R1939:Srsf6	UTSW	2	162934483	unclassified	probably benign
R1940:Srsf6	UTSW	2	162934483	unclassified	probably benign
R2225:Srsf6	UTSW	2	162931699	missense	probably damaging	1.00
R2226:Srsf6	UTSW	2	162931699	missense	probably damaging	1.00
R2227:Srsf6	UTSW	2	162931699	missense	probably damaging	1.00
R4026:Srsf6	UTSW	2	162934291	unclassified	probably benign
R4290:Srsf6	UTSW	2	162934716	unclassified	probably benign
R4292:Srsf6	UTSW	2	162934716	unclassified	probably benign
R4293:Srsf6	UTSW	2	162934716	unclassified	probably benign
R4294:Srsf6	UTSW	2	162934716	unclassified	probably benign
R4295:Srsf6	UTSW	2	162934716	unclassified	probably benign
R4613:Srsf6	UTSW	2	162933709	missense	probably benign	0.45
R4657:Srsf6	UTSW	2	162933427	missense	probably benign	0.01
R7378:Srsf6	UTSW	2	162934569	missense	unknown
R7446:Srsf6	UTSW	2	162934716	missense	unknown
R7578:Srsf6	UTSW	2	162932862	missense	probably benign	0.00
R7730:Srsf6	UTSW	2	162931723	missense	probably damaging	0.99
R7908:Srsf6	UTSW	2	162933840	missense	unknown
X0020:Srsf6	UTSW	2	162933498	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTTTACGCTGATGGCTGC -3'
(R):5'- TTGAGCTCGTACACGGCATC -3'

Sequencing Primer
(F):5'- ACTTATAGCGTAGGCCGGC -3'
(R):5'- GGAGTCCTCGAACTCCACG -3'

Posted On

2015-09-24