Mutagenetix > Incidental Mutation

Incidental Mutation 'R1781:Srsf9'

195272

Institutional Source

Beutler Lab

Gene Symbol

Srsf9

Ensembl Gene

ENSMUSG00000029538

Gene Name

serine and arginine-rich splicing factor 9

Synonyms

2610029M16Rik, SRp30c, Sfrs9

MMRRC Submission

039812-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.488) question?

Stock #

R1781 (G1)

Quality Score

161

Status

Not validated

Chromosome

Chromosomal Location

115465236-115471139 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 115465481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 9 (Y9*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031513] [ENSMUST00000149510]

AlphaFold

Q9D0B0

Predicted Effect

probably null
Transcript: ENSMUST00000031513
AA Change: Y38*

SMART Domains

Protein: ENSMUSP00000031513
Gene: ENSMUSG00000029538
AA Change: Y38*

Domain	Start	End	E-Value	Type
RRM	16	86	3.76e-19	SMART
RRM	113	179	1.19e-7	SMART
low complexity region	187	207	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144000

Predicted Effect

probably benign
Transcript: ENSMUST00000149510

SMART Domains

Protein: ENSMUSP00000121845
Gene: ENSMUSG00000029538

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
RRM	54	115	3.04e-2	SMART
low complexity region	123	143	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000209604
AA Change: Y9*

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

97% (88/91)

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. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 59,932,117 (GRCm39)	K211E	probably damaging	Het
Abca13	T	A	11: 9,219,194 (GRCm39)	L376Q	probably damaging	Het
Abca17	T	C	17: 24,486,531 (GRCm39)	T1499A	possibly damaging	Het
Anks6	A	C	4: 47,043,639 (GRCm39)	N363K	possibly damaging	Het
Apob	T	A	12: 8,059,603 (GRCm39)	I2695N	possibly damaging	Het
Arhgef18	C	T	8: 3,430,495 (GRCm39)	R123W	probably damaging	Het
Atg14	T	A	14: 47,786,607 (GRCm39)		probably null	Het
Atg2a	A	T	19: 6,306,243 (GRCm39)	I1368F	probably damaging	Het
Btbd9	A	G	17: 30,732,567 (GRCm39)	S373P	probably damaging	Het
Ccdc83	T	C	7: 89,899,749 (GRCm39)	E41G	probably damaging	Het
Ccnh	T	C	13: 85,354,254 (GRCm39)	S233P	possibly damaging	Het
Cdh8	T	C	8: 99,917,094 (GRCm39)		probably null	Het
Cdh8	A	T	8: 100,006,290 (GRCm39)	I99N	probably damaging	Het
Cdr2	G	A	7: 120,557,268 (GRCm39)	P419L	probably benign	Het
Cds1	T	A	5: 101,960,416 (GRCm39)	I289K	possibly damaging	Het
Cherp	G	A	8: 73,221,615 (GRCm39)	T394I	probably damaging	Het
Cyp4f17	T	G	17: 32,742,993 (GRCm39)	I222S	possibly damaging	Het
Dcc	A	G	18: 71,511,788 (GRCm39)	S856P	probably benign	Het
Dcp1a	C	T	14: 30,235,032 (GRCm39)	T221I	probably benign	Het
Ddx10	A	G	9: 53,118,845 (GRCm39)	S475P	probably damaging	Het
Dennd5b	G	T	6: 148,928,896 (GRCm39)	A759E	probably damaging	Het
Disp2	G	A	2: 118,623,042 (GRCm39)	G1258D	probably damaging	Het
Fhdc1	A	T	3: 84,356,111 (GRCm39)	D444E	probably damaging	Het
Fhod1	T	C	8: 106,074,421 (GRCm39)		probably benign	Het
Gcnt7	T	C	2: 172,296,800 (GRCm39)	K8R	probably benign	Het
Gk5	C	T	9: 96,015,508 (GRCm39)	T108I	possibly damaging	Het
Gm8214	C	A	1: 183,414,129 (GRCm39)		noncoding transcript	Het
Gnl1	A	T	17: 36,298,638 (GRCm39)	I434F	probably damaging	Het
Golga2	T	C	2: 32,196,588 (GRCm39)	Y986H	probably damaging	Het
Gpr21	T	C	2: 37,407,550 (GRCm39)	V32A	probably benign	Het
Grb14	A	T	2: 64,805,899 (GRCm39)		probably null	Het
H6pd	A	T	4: 150,080,388 (GRCm39)	F144L	probably damaging	Het
Hunk	A	G	16: 90,229,448 (GRCm39)	Y27C	probably damaging	Het
Ints7	C	T	1: 191,328,396 (GRCm39)	T223M	possibly damaging	Het
Kcnmb2	T	C	3: 32,233,152 (GRCm39)		probably null	Het
Lilra6	A	T	7: 3,918,066 (GRCm39)	L26H	probably benign	Het
Mc4r	A	T	18: 66,992,918 (GRCm39)	V65E	probably damaging	Het
Mgam	G	A	6: 40,646,797 (GRCm39)	G708R	probably damaging	Het
Mllt6	A	G	11: 97,563,395 (GRCm39)	D326G	probably benign	Het
Myo7a	A	T	7: 97,722,331 (GRCm39)	V1198D	probably damaging	Het
Nampt	T	C	12: 32,883,037 (GRCm39)	V74A	probably damaging	Het
Nlrp4b	G	C	7: 10,449,266 (GRCm39)	V123L	probably benign	Het
Ntpcr	T	A	8: 126,472,141 (GRCm39)	L150Q	probably damaging	Het
Obscn	C	T	11: 58,997,163 (GRCm39)	E1513K	probably damaging	Het
Ola1	T	C	2: 72,987,099 (GRCm39)	K178E	possibly damaging	Het
Opalin	T	C	19: 41,056,070 (GRCm39)		probably null	Het
Or10g6	A	G	9: 39,934,541 (GRCm39)	N284S	probably damaging	Het
Or13a20	A	T	7: 140,232,419 (GRCm39)	I176F	probably damaging	Het
Or2ad1	C	T	13: 21,326,934 (GRCm39)	V98I	probably benign	Het
Or2w2	C	T	13: 21,757,711 (GRCm39)	G305D	probably damaging	Het
Or3a10	A	T	11: 73,935,786 (GRCm39)	F105I	probably damaging	Het
Or51ah3	C	T	7: 103,209,773 (GRCm39)	P30S	probably benign	Het
Or52ae9	T	C	7: 103,390,028 (GRCm39)	M140V	probably benign	Het
Or52e15	A	T	7: 104,645,315 (GRCm39)	F265L	possibly damaging	Het
Or5p62	A	G	7: 107,771,090 (GRCm39)	V287A	probably benign	Het
Or7a35	T	C	10: 78,853,159 (GRCm39)	M1T	probably null	Het
P2ry12	A	G	3: 59,125,199 (GRCm39)	F159L	probably benign	Het
Paqr7	T	C	4: 134,234,592 (GRCm39)		probably null	Het
Parp1	T	C	1: 180,415,578 (GRCm39)	S466P	probably benign	Het
Parp4	T	A	14: 56,864,838 (GRCm39)		probably null	Het
Pcdh1	T	C	18: 38,322,977 (GRCm39)	D952G	probably damaging	Het
Pde6c	T	C	19: 38,140,146 (GRCm39)	S336P	possibly damaging	Het
Pgk2	T	C	17: 40,519,398 (GRCm39)	D10G	probably benign	Het
Phf20l1	A	G	15: 66,504,674 (GRCm39)	T771A	probably damaging	Het
Pkdrej	A	G	15: 85,705,372 (GRCm39)	V188A	possibly damaging	Het
Plekhm1	A	G	11: 103,285,682 (GRCm39)	L251P	probably damaging	Het
Prex2	A	T	1: 11,270,179 (GRCm39)	N1288I	probably benign	Het
Sarnp	T	C	10: 128,669,191 (GRCm39)	L16P	probably damaging	Het
Scgb3a2	T	C	18: 43,900,033 (GRCm39)		probably benign	Het
Scn11a	A	T	9: 119,584,148 (GRCm39)	I1489N	probably damaging	Het
Scn3a	A	T	2: 65,302,729 (GRCm39)	L1239Q	probably damaging	Het
Shisa9	T	C	16: 12,085,521 (GRCm39)	S377P	probably benign	Het
Slc22a30	T	A	19: 8,313,136 (GRCm39)	T550S	probably damaging	Het
Slc25a11	T	C	11: 70,535,651 (GRCm39)	T296A	probably benign	Het
Slc35f1	T	A	10: 52,938,532 (GRCm39)		probably null	Het
Slc6a13	A	G	6: 121,311,811 (GRCm39)	E396G	probably damaging	Het
Spata31d1c	T	C	13: 65,183,985 (GRCm39)	I509T	probably benign	Het
Tasor2	T	C	13: 3,634,759 (GRCm39)	T683A	possibly damaging	Het
Tbx20	T	C	9: 24,636,795 (GRCm39)	I431V	probably benign	Het
Tespa1	G	A	10: 130,184,119 (GRCm39)	G67S	probably benign	Het
Trhde	A	T	10: 114,424,405 (GRCm39)	V460E	possibly damaging	Het
Trip12	A	T	1: 84,708,342 (GRCm39)	F1739I	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Umodl1	G	A	17: 31,187,524 (GRCm39)	R196H	probably damaging	Het
Vezf1	G	T	11: 87,972,447 (GRCm39)	M269I	probably benign	Het
Vmn1r35	A	T	6: 66,656,550 (GRCm39)	M40K	probably benign	Het
Vmn1r9	G	T	6: 57,048,300 (GRCm39)	C125F	probably benign	Het
Vmn2r12	C	A	5: 109,239,594 (GRCm39)	G323V	probably benign	Het
Vmn2r79	A	T	7: 86,651,555 (GRCm39)	H318L	probably benign	Het
Zfhx3	T	A	8: 109,520,167 (GRCm39)	S430T	probably benign	Het

Other mutations in Srsf9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01462:Srsf9	APN	5	115,470,187 (GRCm39)	missense	probably damaging	1.00
R0137:Srsf9	UTSW	5	115,470,260 (GRCm39)	missense	possibly damaging	0.64
R0603:Srsf9	UTSW	5	115,470,696 (GRCm39)	missense	probably damaging	0.99
R1565:Srsf9	UTSW	5	115,465,429 (GRCm39)	missense	possibly damaging	0.73
R2942:Srsf9	UTSW	5	115,470,752 (GRCm39)	missense	probably damaging	1.00
R3622:Srsf9	UTSW	5	115,468,571 (GRCm39)	missense	probably damaging	0.98
R3689:Srsf9	UTSW	5	115,465,387 (GRCm39)	missense	probably benign	0.00
R4492:Srsf9	UTSW	5	115,470,651 (GRCm39)	missense	probably damaging	1.00
R5345:Srsf9	UTSW	5	115,468,595 (GRCm39)	missense	probably benign	0.03
R5840:Srsf9	UTSW	5	115,469,524 (GRCm39)	missense	probably benign
R6355:Srsf9	UTSW	5	115,465,368 (GRCm39)	start codon destroyed	probably null	0.04
R7207:Srsf9	UTSW	5	115,465,481 (GRCm39)	nonsense	probably null
R7672:Srsf9	UTSW	5	115,468,619 (GRCm39)	missense	probably damaging	1.00
R8466:Srsf9	UTSW	5	115,465,492 (GRCm39)	missense	probably benign	0.40
R8871:Srsf9	UTSW	5	115,468,712 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGACAGCCCCAAGCTTAGTGAC -3'
(R):5'- TTCCGATTGAAGGAAGTGACACCAG -3'

Sequencing Primer
(F):5'- CTTAGTGACCTACCAGCTTAGGAG -3'
(R):5'- TCCTCGAAGCGCACGAAGGCGAAGG -3'

Posted On

2014-05-23