Mutagenetix > Incidental Mutation

Incidental Mutation 'R5840:Srsf9'

450368

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

044060-MU

Accession Numbers

Essential gene?

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

Stock #

R5840 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

115465236-115471139 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 115469524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 29 (M29R)

Ref Sequence

ENSEMBL: ENSMUSP00000121845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031513] [ENSMUST00000139167] [ENSMUST00000149510]

AlphaFold

Q9D0B0

Predicted Effect

probably benign
Transcript: ENSMUST00000031513

SMART Domains

Protein: ENSMUSP00000031513
Gene: ENSMUSG00000029538

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

probably benign
Transcript: ENSMUST00000139167

SMART Domains

Protein: ENSMUSP00000115090
Gene: ENSMUSG00000029536

Domain	Start	End	E-Value	Type
Pfam:Glu-tRNAGln	69	134	2e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144000

Predicted Effect

probably benign
Transcript: ENSMUST00000149510
AA Change: M29R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121845
Gene: ENSMUSG00000029538
AA Change: M29R

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

0.0898

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 96.5%
20x: 88.1%

Validation Efficiency

99% (75/76)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,323,371 (GRCm39)	R113Q	probably benign	Het
Aip	G	A	19: 4,166,010 (GRCm39)	P147L	possibly damaging	Het
Anapc1	A	C	2: 128,448,957 (GRCm39)		probably benign	Het
Arhgap42	C	T	9: 9,046,518 (GRCm39)	V240I	possibly damaging	Het
Axdnd1	T	C	1: 156,176,528 (GRCm39)	E684G	probably damaging	Het
BC005624	G	A	2: 30,871,869 (GRCm39)	R2W	probably benign	Het
Cd177	T	G	7: 24,457,495 (GRCm39)	Q182P	probably damaging	Het
Cdca5	G	A	19: 6,140,399 (GRCm39)	E187K	possibly damaging	Het
Chmp1a	T	C	8: 123,934,839 (GRCm39)	Q39R	probably benign	Het
Dab2ip	A	G	2: 35,617,511 (GRCm39)	I1079V	probably damaging	Het
Dip2c	A	T	13: 9,556,712 (GRCm39)	E85D	possibly damaging	Het
Elmo2	A	T	2: 165,137,472 (GRCm39)	S497R	possibly damaging	Het
Ephb6	C	T	6: 41,592,507 (GRCm39)	A339V	possibly damaging	Het
Foxred1	T	C	9: 35,121,435 (GRCm39)	K38E	probably damaging	Het
Frem2	T	A	3: 53,555,342 (GRCm39)	T1732S	probably damaging	Het
Fto	A	G	8: 92,393,068 (GRCm39)		probably benign	Het
Gm17430	T	A	18: 9,726,528 (GRCm39)	Q48L	probably damaging	Het
Gng2	A	G	14: 19,925,882 (GRCm39)	I70T	probably damaging	Het
Gtf2a2	A	G	9: 69,922,575 (GRCm39)		probably benign	Het
Invs	A	G	4: 48,396,284 (GRCm39)	D263G	probably damaging	Het
Itga2b	C	T	11: 102,352,157 (GRCm39)	V475M	probably damaging	Het
Kansl1l	A	G	1: 66,809,374 (GRCm39)		probably benign	Het
Klhl25	T	C	7: 75,516,440 (GRCm39)	F449L	possibly damaging	Het
Lamb1	T	A	12: 31,316,755 (GRCm39)	C83S	probably damaging	Het
Loxl4	G	T	19: 42,587,154 (GRCm39)	T648K	probably damaging	Het
Lrit2	T	C	14: 36,790,962 (GRCm39)	F214L	possibly damaging	Het
N4bp2	T	G	5: 65,965,437 (GRCm39)	L1162R	probably damaging	Het
Naa40	A	T	19: 7,207,373 (GRCm39)	I117N	probably benign	Het
Ncapd3	T	C	9: 27,006,054 (GRCm39)	S1492P	probably benign	Het
Nf2	T	A	11: 4,766,146 (GRCm39)	D128V	probably benign	Het
Nox4	T	C	7: 87,010,001 (GRCm39)	S401P	probably benign	Het
Nt5c1b	T	C	12: 10,427,171 (GRCm39)	V323A	probably damaging	Het
Or52a33	C	T	7: 103,288,463 (GRCm39)	V295I	probably benign	Het
Or52s19	T	A	7: 103,007,576 (GRCm39)	H275L	probably damaging	Het
Or5b118	G	A	19: 13,449,242 (GRCm39)	V303I	probably benign	Het
Pcdhb14	T	C	18: 37,581,803 (GRCm39)	V303A	probably benign	Het
Pde8a	C	A	7: 80,863,713 (GRCm39)	H17Q	probably benign	Het
Pfkl	C	T	10: 77,824,558 (GRCm39)	V716I	probably benign	Het
Phc3	G	A	3: 30,990,732 (GRCm39)	S495L	possibly damaging	Het
Psg18	A	G	7: 18,080,527 (GRCm39)		probably benign	Het
Rcc2	T	G	4: 140,439,449 (GRCm39)	N175K	possibly damaging	Het
Rhot2	G	A	17: 26,059,032 (GRCm39)	T276I	probably benign	Het
Rnase9	A	T	14: 51,276,445 (GRCm39)	Y178N	probably benign	Het
Sema4b	T	C	7: 79,868,697 (GRCm39)	C297R	probably damaging	Het
Slc35d2	T	C	13: 64,266,227 (GRCm39)		probably null	Het
Sptlc3	A	T	2: 139,389,126 (GRCm39)	N169Y	probably damaging	Het
Stip1	C	A	19: 6,999,436 (GRCm39)	D449Y	possibly damaging	Het
Syne2	T	A	12: 75,927,065 (GRCm39)		probably null	Het
Tgm5	A	G	2: 120,916,141 (GRCm39)		probably null	Het
Thbs2	A	T	17: 14,901,692 (GRCm39)		probably null	Het
Trak2	T	C	1: 58,958,432 (GRCm39)	E283G	probably damaging	Het
Trbv21	A	G	6: 41,179,792 (GRCm39)	Y36C	probably damaging	Het
Trpm7	A	T	2: 126,664,531 (GRCm39)	Y949*	probably null	Het
Ubqln5	T	C	7: 103,778,161 (GRCm39)	D221G	possibly damaging	Het
Ubxn4	T	A	1: 128,187,262 (GRCm39)	V85D	possibly damaging	Het
Vmn1r172	T	A	7: 23,359,600 (GRCm39)	W162R	probably benign	Het
Vrk2	A	G	11: 26,484,314 (GRCm39)		probably benign	Het
Zc3h8	A	C	2: 128,771,824 (GRCm39)	D276E	probably benign	Het
Zfp369	C	T	13: 65,445,092 (GRCm39)	T745I	possibly damaging	Het
Zfp608	T	C	18: 55,031,978 (GRCm39)	K654R	probably damaging	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
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
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'- CTTCTAGAGTGTGACAGTCCC -3'
(R):5'- GCACAAGAGTCCGTGTTTTG -3'

Sequencing Primer
(F):5'- GTCCCACAATCATAGTCATGTGTACG -3'
(R):5'- TTTGTTTGTTTCTTTACAGCATGAC -3'

Posted On

2016-12-20