Mutagenetix > Incidental Mutation

Incidental Mutation 'R4592:Srsf6'

342883

Institutional Source

Beutler Lab

Gene Symbol

Srsf6

Ensembl Gene

ENSMUSG00000016921

Gene Name

serine and arginine-rich splicing factor 6

Synonyms

1210001E11Rik, Sfrs6

MMRRC Submission

041808-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.786) question?

Stock #

R4592 (G1)

Quality Score

140

Status

Validated

Chromosome

Chromosomal Location

162773448-162779041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 162773643 bp (GRCm39)

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]

AlphaFold

Q3TWW8

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
4933430I17Rik	T	A	4: 62,457,164 (GRCm39)	V161E	possibly damaging	Het
Arhgap40	T	C	2: 158,388,629 (GRCm39)	V521A	possibly damaging	Het
Atrn	T	C	2: 130,841,050 (GRCm39)		probably benign	Het
Casp12	T	C	9: 5,352,923 (GRCm39)		probably benign	Het
Cenpf	G	A	1: 189,411,230 (GRCm39)	T318M	probably damaging	Het
Cfap119	C	T	7: 127,184,663 (GRCm39)	R172H	probably benign	Het
Clcn2	T	C	16: 20,527,892 (GRCm39)	K525E	probably damaging	Het
Cntln	A	G	4: 84,889,419 (GRCm39)	T301A	probably benign	Het
Crat	T	C	2: 30,305,378 (GRCm39)		probably benign	Het
Cul5	A	G	9: 53,545,027 (GRCm39)		probably benign	Het
Cxcl14	A	T	13: 56,443,708 (GRCm39)	I34N	probably damaging	Het
Cyp2b19	A	G	7: 26,470,819 (GRCm39)	I487V	probably benign	Het
Cyp4a10	T	A	4: 115,386,690 (GRCm39)	F446I	probably damaging	Het
D430041D05Rik	T	A	2: 104,063,824 (GRCm39)	M659L	possibly damaging	Het
Dclk3	T	C	9: 111,296,963 (GRCm39)	F169S	probably damaging	Het
Ddx52	T	C	11: 83,848,306 (GRCm39)	I532T	probably damaging	Het
Dnm1	T	C	2: 32,226,023 (GRCm39)	D352G	probably damaging	Het
Eif4g2	T	C	7: 110,677,509 (GRCm39)	E174G	probably damaging	Het
Enpp6	G	T	8: 47,546,067 (GRCm39)	V386L	probably damaging	Het
Entr1	C	A	2: 26,278,909 (GRCm39)		probably benign	Het
Eps15l1	T	C	8: 73,095,238 (GRCm39)	D904G	probably damaging	Het
Esrrb	A	G	12: 86,565,604 (GRCm39)	Y356C	probably damaging	Het
Flt3	A	T	5: 147,291,509 (GRCm39)	S619T	possibly damaging	Het
Fndc7	A	T	3: 108,766,218 (GRCm39)	C716S	probably damaging	Het
Gm26996	T	A	6: 130,556,448 (GRCm39)		noncoding transcript	Het
Grik2	A	T	10: 49,298,711 (GRCm39)	F50I	possibly damaging	Het
Guf1	T	C	5: 69,723,786 (GRCm39)	V367A	possibly damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Ifnar2	T	C	16: 91,188,684 (GRCm39)	V55A	probably benign	Het
Impg1	T	A	9: 80,322,907 (GRCm39)	I33F	probably benign	Het
Ltbp4	A	C	7: 27,024,608 (GRCm39)	V674G	probably damaging	Het
Mroh2b	T	A	15: 4,947,772 (GRCm39)	L529H	probably damaging	Het
Negr1	T	C	3: 156,914,023 (GRCm39)		probably benign	Het
Neurog3	A	G	10: 61,969,599 (GRCm39)	T25A	probably damaging	Het
Or10v1	T	C	19: 11,874,126 (GRCm39)	V247A	probably benign	Het
Or4a69	T	A	2: 89,313,100 (GRCm39)	K126N	probably damaging	Het
Or51h1	A	C	7: 102,308,685 (GRCm39)	Y219S	probably damaging	Het
Or5k17	T	C	16: 58,746,455 (GRCm39)	T160A	probably benign	Het
Pax8	T	A	2: 24,333,201 (GRCm39)		probably benign	Het
Pcsk6	A	C	7: 65,581,480 (GRCm39)	I254L	possibly damaging	Het
Pde3a	A	G	6: 141,404,942 (GRCm39)	K389R	probably benign	Het
Rab3gap1	C	A	1: 127,852,996 (GRCm39)		probably benign	Het
Rbck1	G	A	2: 152,160,653 (GRCm39)	Q428*	probably null	Het
Rptor	A	G	11: 119,689,666 (GRCm39)	D321G	probably null	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Skp1	T	C	11: 52,134,446 (GRCm39)	I59T	possibly damaging	Het
Slc23a3	T	G	1: 75,105,200 (GRCm39)	N456T	probably damaging	Het
Slc4a7	G	A	14: 14,778,850 (GRCm38)	G920S	probably damaging	Het
Smarcd3	T	C	5: 24,797,802 (GRCm39)	I467V	probably benign	Het
Spata31d1c	C	T	13: 65,183,874 (GRCm39)	A472V	probably damaging	Het
Spmap1	A	G	11: 97,662,441 (GRCm39)	S144P	probably damaging	Het
Stom	C	T	2: 35,213,758 (GRCm39)	G80D	probably damaging	Het
Svep1	A	T	4: 58,084,028 (GRCm39)	Y1915N	possibly damaging	Het
Tmf1	C	T	6: 97,150,361 (GRCm39)	V449I	probably benign	Het
Triobp	C	T	15: 78,851,295 (GRCm39)	A483V	probably benign	Het
Vdac1	G	A	11: 52,265,799 (GRCm39)		probably null	Het
Vmn2r75	T	G	7: 85,815,494 (GRCm39)	E123D	probably benign	Het
Vmn2r79	T	A	7: 86,653,319 (GRCm39)	V528D	possibly damaging	Het
Zdbf2	T	G	1: 63,345,750 (GRCm39)	N1376K	possibly damaging	Het
Zeb1os1	T	C	18: 5,525,375 (GRCm39)		noncoding transcript	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
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'- CTGTTTACGCTGATGGCTGC -3'
(R):5'- TTGAGCTCGTACACGGCATC -3'

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

Posted On

2015-09-24