Mutagenetix > Incidental Mutation

Incidental Mutation 'R1565:Srsf9'

261753

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

039604-MU

Accession Numbers

Essential gene?

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

Stock #

R1565 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

115465236-115471139 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115465429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 21 (N21S)

Ref Sequence

ENSEMBL: ENSMUSP00000031513 (fasta)

Gene Model

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

AlphaFold

Q9D0B0

PDB Structure

Solution structure of RRM domain in protein BAB31986 [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031513
AA Change: N21S

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031513
Gene: ENSMUSG00000029538
AA Change: N21S

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 benign
Transcript: ENSMUST00000209604

Meta Mutation Damage Score

0.2416

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.0%

Validation Efficiency

96% (82/85)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,771,327 (GRCm39)	G270S	probably benign	Het
Abtb1	T	C	6: 88,813,536 (GRCm39)	T401A	probably benign	Het
Adamts14	A	T	10: 61,106,676 (GRCm39)	M148K	probably damaging	Het
Adcy5	A	G	16: 35,089,327 (GRCm39)	E508G	probably damaging	Het
Ankfy1	T	A	11: 72,648,144 (GRCm39)	L875H	probably damaging	Het
Cacng3	A	T	7: 122,367,624 (GRCm39)	D168V	probably damaging	Het
Clpb	G	A	7: 101,434,668 (GRCm39)	R488Q	probably benign	Het
Cltrn	A	G	X: 162,901,230 (GRCm39)	D184G	possibly damaging	Het
Cpxm2	A	T	7: 131,663,874 (GRCm39)	Y350N	probably damaging	Het
D130040H23Rik	T	A	8: 69,755,812 (GRCm39)	*406R	probably null	Het
Dnah10	T	A	5: 124,906,678 (GRCm39)	D4236E	probably damaging	Het
Dpf3	T	A	12: 83,417,391 (GRCm39)	Y27F	probably damaging	Het
Esp4	T	C	17: 40,913,486 (GRCm39)	*118Q	probably null	Het
Fam222b	T	C	11: 78,045,488 (GRCm39)	S222P	possibly damaging	Het
Flnc	T	C	6: 29,455,170 (GRCm39)	V1933A	probably damaging	Het
Gem	T	C	4: 11,713,709 (GRCm39)	F282L	possibly damaging	Het
Gli2	T	C	1: 118,769,660 (GRCm39)	T631A	possibly damaging	Het
Gpld1	T	A	13: 25,140,051 (GRCm39)	V116E	probably damaging	Het
Gpr176	A	G	2: 118,110,695 (GRCm39)	M188T	probably benign	Het
Grk5	T	C	19: 61,078,410 (GRCm39)	V489A	probably damaging	Het
Hpdl	T	C	4: 116,678,080 (GRCm39)	N127S	probably damaging	Het
Hsd17b8	C	T	17: 34,246,469 (GRCm39)	V105I	possibly damaging	Het
Id4	G	T	13: 48,415,770 (GRCm39)	V151L	possibly damaging	Het
Kcnh8	G	T	17: 53,263,909 (GRCm39)	G802V	probably benign	Het
Lamc1	C	A	1: 153,118,489 (GRCm39)	S894I	probably benign	Het
Larp1b	A	G	3: 40,926,819 (GRCm39)	N184S	probably damaging	Het
Lhx1	A	T	11: 84,410,647 (GRCm39)	S226T	probably benign	Het
Lmo7	A	T	14: 102,124,957 (GRCm39)	Q472L	probably damaging	Het
Mog	G	C	17: 37,328,474 (GRCm39)	N152K	possibly damaging	Het
Mttp	A	G	3: 137,822,166 (GRCm39)		probably null	Het
Mycbp2	A	G	14: 103,489,945 (GRCm39)	V953A	possibly damaging	Het
Myo3a	A	T	2: 22,345,091 (GRCm39)	Y509F	probably damaging	Het
Myo9b	A	G	8: 71,767,836 (GRCm39)	N303S	possibly damaging	Het
Nek3	T	C	8: 22,622,217 (GRCm39)		probably null	Het
Nlrc4	A	T	17: 74,748,926 (GRCm39)	D771E	probably benign	Het
Nup160	A	T	2: 90,552,405 (GRCm39)	N1127I	possibly damaging	Het
Oas1h	A	T	5: 121,000,663 (GRCm39)	N91I	probably damaging	Het
Or13p4	T	A	4: 118,547,389 (GRCm39)	N87Y	probably damaging	Het
Or4c120	A	T	2: 89,000,971 (GRCm39)	V195D	probably benign	Het
Or4c121	G	T	2: 89,024,227 (GRCm39)	S50R	probably damaging	Het
Parp4	T	C	14: 56,827,329 (GRCm39)		probably benign	Het
Pi4ka	G	A	16: 17,099,764 (GRCm39)	C96Y	probably null	Het
Pira2	A	T	7: 3,847,548 (GRCm39)	F47Y	probably damaging	Het
Pkhd1	C	A	1: 20,417,681 (GRCm39)	G2490V	probably damaging	Het
Plekhg1	C	T	10: 3,890,526 (GRCm39)	T394I	probably damaging	Het
Pramel22	G	A	4: 143,382,187 (GRCm39)	Q170*	probably null	Het
Psmd1	T	C	1: 86,019,719 (GRCm39)		probably benign	Het
Rab3ip	A	T	10: 116,775,128 (GRCm39)	C77S	probably benign	Het
Reln	A	T	5: 22,130,211 (GRCm39)	M2700K	probably benign	Het
Rfx1	A	G	8: 84,800,575 (GRCm39)	T59A	probably benign	Het
Ric8b	G	T	10: 84,815,963 (GRCm39)	V405L	probably benign	Het
Rufy3	G	T	5: 88,788,491 (GRCm39)	A479S	probably damaging	Het
Sardh	A	T	2: 27,132,731 (GRCm39)	Y166N	probably damaging	Het
Slamf6	T	G	1: 171,761,975 (GRCm39)	V132G	possibly damaging	Het
Slc12a3	T	G	8: 95,072,505 (GRCm39)	H674Q	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stkld1	A	T	2: 26,840,102 (GRCm39)	T391S	probably benign	Het
Sumf2	C	A	5: 129,888,755 (GRCm39)	N230K	probably damaging	Het
Tbc1d22a	T	C	15: 86,119,770 (GRCm39)	V22A	possibly damaging	Het
Thsd7b	T	A	1: 129,523,778 (GRCm39)	S194T	possibly damaging	Het
Tnn	T	A	1: 159,924,835 (GRCm39)	Y1173F	probably damaging	Het
Top2a	A	G	11: 98,891,880 (GRCm39)	F1122L	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trim39	G	A	17: 36,579,746 (GRCm39)	R70W	probably damaging	Het
Ttn	G	A	2: 76,624,605 (GRCm39)	T15289I	probably damaging	Het
Ugt2b38	A	T	5: 87,559,773 (GRCm39)	V373E	probably damaging	Het
Usp54	A	G	14: 20,657,227 (GRCm39)	S24P	probably damaging	Het
Vmn2r27	C	T	6: 124,208,593 (GRCm39)	G51S	probably benign	Het
Xylt2	C	T	11: 94,558,420 (GRCm39)	A579T	probably benign	Het
Zbtb21	A	G	16: 97,753,627 (GRCm39)	S247P	probably benign	Het
Zc3h7b	C	T	15: 81,661,289 (GRCm39)	P376L	probably benign	Het
Zfp251	T	A	15: 76,737,238 (GRCm39)	R613S	probably damaging	Het
Zfp251	C	T	15: 76,737,239 (GRCm39)	R613K	possibly damaging	Het
Zfp91	T	C	19: 12,756,439 (GRCm39)	D135G	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
R1781:Srsf9	UTSW	5	115,465,481 (GRCm39)	nonsense	probably null
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'- gggagggggaggggaag -3'

Posted On

2015-01-30