Mutagenetix > Incidental Mutation

Incidental Mutation 'R4613:Srsf6'

350934

Institutional Source

Beutler Lab

Gene Symbol

Srsf6

Ensembl Gene

ENSMUSG00000016921

Gene Name

serine/arginine-rich splicing factor 6

Synonyms

Sfrs6, 1210001E11Rik

MMRRC Submission

041824-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.739) question?

Stock #

R4613 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

162931528-162937121 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 162933709 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 146 (T146K)

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

probably benign
Transcript: ENSMUST00000130411
AA Change: T146K

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119065
Gene: ENSMUSG00000016921
AA Change: T146K

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,557	L130I	probably benign	Het
Abca9	A	G	11: 110,144,784	V670A	probably benign	Het
Adad1	A	G	3: 37,092,033	N517D	probably damaging	Het
Ankle2	T	C	5: 110,231,379	L48P	probably benign	Het
Aoc3	A	T	11: 101,337,659		probably benign	Het
Areg	A	G	5: 91,143,504	K102R	probably benign	Het
Bmp1	T	C	14: 70,508,523	T167A	probably damaging	Het
C4b	C	T	17: 34,734,551	G986D	probably benign	Het
Caml	G	T	13: 55,625,142	G200C	probably damaging	Het
Ccdc40	A	C	11: 119,231,532	R53S	probably benign	Het
Cdh22	T	A	2: 165,143,656	I337L	probably benign	Het
Col12a1	A	T	9: 79,647,601	V2065D	probably benign	Het
Copg2	A	G	6: 30,811,596	S591P	probably benign	Het
Cyp2d34	G	A	15: 82,616,325	P438S	probably damaging	Het
Dchs1	T	C	7: 105,772,724	D163G	probably damaging	Het
Depdc1b	T	C	13: 108,363,643	V230A	probably damaging	Het
Depdc5	T	A	5: 32,975,446	L1300H	probably damaging	Het
Dnah10	G	T	5: 124,762,869		probably null	Het
Dsc2	A	T	18: 20,041,819	D466E	probably damaging	Het
Dthd1	A	G	5: 62,827,068	D372G	probably damaging	Het
Eogt	G	T	6: 97,134,304	Q199K	probably benign	Het
Epha6	C	A	16: 59,666,597	R1029L	possibly damaging	Het
Eppin	C	A	2: 164,589,323	E128*	probably null	Het
Fam102b	A	T	3: 109,027,255	F23I	probably benign	Het
Fam160b1	C	A	19: 57,371,187	P53Q	probably damaging	Het
Fgf20	T	C	8: 40,286,611	R33G	probably benign	Het
Fgg	A	G	3: 83,010,090	N142S	probably damaging	Het
Gba	C	T	3: 89,208,644		probably null	Het
Gli2	A	G	1: 118,837,511	V970A	probably damaging	Het
Gramd1b	A	T	9: 40,307,993	V508D	probably damaging	Het
Gucy2c	T	A	6: 136,708,321	D898V	probably damaging	Het
Kcnj15	T	C	16: 95,295,794	Y92H	probably damaging	Het
L3mbtl3	A	T	10: 26,282,795	S652T	unknown	Het
Ldb2	G	T	5: 44,476,551	Q326K	probably benign	Het
Lipi	C	A	16: 75,560,801	R292L	probably benign	Het
Lrrc36	G	A	8: 105,449,614	V207I	possibly damaging	Het
Lyplal1	C	T	1: 186,088,752	G166D	probably benign	Het
Map1b	A	T	13: 99,430,302	Y1970*	probably null	Het
Map2	A	G	1: 66,425,469	N287D	probably damaging	Het
Map3k11	A	T	19: 5,697,470	Q578L	probably benign	Het
Map3k11	G	T	19: 5,697,471	Q578H	probably damaging	Het
Map4k4	G	A	1: 40,017,191	S1012N	probably benign	Het
Mapk13	A	T	17: 28,769,452	N15Y	probably damaging	Het
Mapk15	G	A	15: 75,995,910	A125T	probably damaging	Het
Mrgprb1	C	A	7: 48,447,708	R152L	possibly damaging	Het
Muc5ac	T	G	7: 141,791,103	Y104D	possibly damaging	Het
Myo1h	A	G	5: 114,348,379	N566S	possibly damaging	Het
Myo1h	C	A	5: 114,351,676	H647Q	probably benign	Het
Neo1	A	G	9: 58,889,041	I1201T	possibly damaging	Het
Nlgn1	T	C	3: 25,436,022	T514A	probably benign	Het
Olfr120	A	G	17: 37,726,696	Y224C	probably damaging	Het
Olfr533	A	T	7: 140,467,068	Y289F	probably damaging	Het
Olfr8	A	G	10: 78,956,065	N287D	probably damaging	Het
Olfr985	T	A	9: 40,127,722	K80*	probably null	Het
Orc2	A	T	1: 58,500,309	L57*	probably null	Het
Otoa	G	A	7: 121,145,568	V850M	probably damaging	Het
Pcnx3	T	C	19: 5,667,219	T1579A	possibly damaging	Het
Pde5a	A	T	3: 122,823,093	Y564F	probably damaging	Het
Pdxk	A	C	10: 78,447,919	I147S	probably damaging	Het
Pfdn5	A	G	15: 102,328,752	D108G	probably benign	Het
Pink1	T	C	4: 138,317,310	D342G	probably damaging	Het
Prkacb	A	T	3: 146,737,998	V336E	probably damaging	Het
Ptpro	C	A	6: 137,416,836	S13*	probably null	Het
Rfng	A	G	11: 120,782,650	L215P	probably damaging	Het
Rpn2	T	C	2: 157,302,425	F336L	possibly damaging	Het
Sacs	A	G	14: 61,211,797		probably null	Het
Sirpb1a	T	A	3: 15,417,037	Y77F	probably benign	Het
Skiv2l2	C	A	13: 112,921,739	E53*	probably null	Het
Slc30a8	A	G	15: 52,333,575	D294G	probably benign	Het
Sox13	T	C	1: 133,388,934	I212V	probably benign	Het
Srebf2	T	A	15: 82,185,348	I657N	possibly damaging	Het
Strn4	T	C	7: 16,824,163	V162A	possibly damaging	Het
Sulf2	T	C	2: 166,132,605	D53G	probably damaging	Het
Tbc1d8	T	A	1: 39,372,708	I1016F	probably damaging	Het
Tfrc	G	T	16: 32,618,657	A278S	probably damaging	Het
Tnrc6a	T	G	7: 123,184,289		probably null	Het
Vmn1r83	T	C	7: 12,321,768	I121V	probably benign	Het
Vps13d	T	C	4: 145,131,655	S2200G	possibly damaging	Het
Washc2	T	A	6: 116,229,269	D397E	probably damaging	Het
Wipf3	T	C	6: 54,485,555	L250P	probably damaging	Het
Xirp1	A	G	9: 120,019,682	F45S	probably damaging	Het
Xpo5	A	G	17: 46,236,963	T910A	probably benign	Het
Zfp235	T	C	7: 24,141,676	Y507H	probably 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
R4592:Srsf6	UTSW	2	162931723	missense	probably damaging	0.99
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
R9498:Srsf6	UTSW	2	162932089	missense	probably benign	0.07
X0020:Srsf6	UTSW	2	162933498	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCGTACAGAGTACAGGCTTATTGTAG -3'
(R):5'- TGGAAATGACAAGCCTCCCC -3'

Sequencing Primer
(F):5'- GAAAATCTGTCTAGTCGTTGCAG -3'
(R):5'- CCCAGCCCTCGTTACCTGG -3'

Posted On

2015-10-08