Incidental Mutation 'R6355:Srsf9'
ID 512331
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 044507-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.488) question?
Stock # R6355 (G1)
Quality Score 106.008
Status Not validated
Chromosome 5
Chromosomal Location 115465236-115471139 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 115465368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
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 probably null
Transcript: ENSMUST00000031513
AA Change: M1V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000031513
Gene: ENSMUSG00000029538
AA Change: M1V

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 98% (41/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a T G 13: 30,565,482 (GRCm39) F182L probably benign Het
Ahnak A G 19: 8,986,126 (GRCm39) E2470G probably benign Het
Arhgap20 T C 9: 51,755,020 (GRCm39) W418R probably damaging Het
Arhgap29 A G 3: 121,804,907 (GRCm39) D832G possibly damaging Het
Btbd2 A G 10: 80,481,183 (GRCm39) F325L possibly damaging Het
Chrna10 A T 7: 101,762,292 (GRCm39) probably null Het
Cyp26a1 T C 19: 37,687,377 (GRCm39) I188T possibly damaging Het
Dnajc13 A G 9: 104,080,469 (GRCm39) C871R probably damaging Het
Efcab3 T C 11: 104,896,511 (GRCm39) S4287P probably benign Het
Gm5519 A T 19: 33,802,471 (GRCm39) *171C probably null Het
Gnat1 C A 9: 107,554,623 (GRCm39) V81F probably benign Het
Gorab G A 1: 163,214,138 (GRCm39) A264V probably damaging Het
Ift172 A T 5: 31,441,501 (GRCm39) V211E probably benign Het
Ivl CCTGCTGCTGCTGCT CCTGCTGCTGCT 3: 92,479,217 (GRCm39) probably benign Het
Kif26b A C 1: 178,743,743 (GRCm39) S1280R probably damaging Het
Lce3e C T 3: 92,875,042 (GRCm39) probably benign Het
Magi1 A G 6: 94,260,177 (GRCm39) Y43H probably benign Het
Mon2 T A 10: 122,858,825 (GRCm39) M829L possibly damaging Het
Nmd3 G A 3: 69,636,680 (GRCm39) V96I probably benign Het
Ogfod1 T C 8: 94,789,610 (GRCm39) M437T probably benign Het
Or4f54 A G 2: 111,123,230 (GRCm39) I206V probably benign Het
Or5m9b T A 2: 85,905,216 (GRCm39) I44K probably benign Het
Or6b2 T C 1: 92,407,702 (GRCm39) T214A probably benign Het
Pabpc2 A G 18: 39,907,445 (GRCm39) S237G probably damaging Het
Parp4 T A 14: 56,839,757 (GRCm39) D488E possibly damaging Het
Phldb2 C T 16: 45,645,701 (GRCm39) M293I probably damaging Het
Poc1b G A 10: 98,965,436 (GRCm39) E80K probably damaging Het
Prdm5 C A 6: 65,860,578 (GRCm39) Q421K probably damaging Het
Rad54b A G 4: 11,604,989 (GRCm39) E479G possibly damaging Het
Ralgapa1 A G 12: 55,745,639 (GRCm39) S1239P probably damaging Het
Robo3 A G 9: 37,330,235 (GRCm39) V1052A possibly damaging Het
Satb2 G T 1: 56,987,356 (GRCm39) D83E probably damaging Het
Sccpdh T C 1: 179,498,165 (GRCm39) S70P probably benign Het
Scn3a A G 2: 65,291,643 (GRCm39) F1701S probably damaging Het
Stk32a T A 18: 43,430,659 (GRCm39) probably null Het
Sult2a5 A C 7: 13,396,462 (GRCm39) Y183S probably benign Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Tnip2 G A 5: 34,656,541 (GRCm39) Q255* probably null Het
Vmn1r26 A G 6: 57,985,536 (GRCm39) W218R probably benign Het
Vmn2r61 A G 7: 41,916,659 (GRCm39) Y424C probably benign Het
Vmn2r86 T A 10: 130,291,763 (GRCm39) M1L probably damaging Het
Wnt3a A T 11: 59,166,058 (GRCm39) I74N probably damaging Het
Zfyve1 A T 12: 83,641,415 (GRCm39) H80Q probably benign Het
Other mutations in Srsf9
AlleleSourceChrCoordTypePredicted EffectPPH 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
R5840:Srsf9 UTSW 5 115,469,524 (GRCm39) missense probably benign
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'- GGCTACCCCTTTAAGATCGC -3'
(R):5'- TCCGATTGAAGGAAGTGACACC -3'

Sequencing Primer
(F):5'- GATCGCTTTAAAAATCCTCCGACCG -3'
(R):5'- TCCTCGAAGCGCACGAAG -3'
Posted On 2018-04-27