Incidental Mutation 'R8466:Srsf9'
ID 656824
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 067910-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.485) question?
Stock # R8466 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 115465236-115471139 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 115465492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Proline at position 42 (R42P)
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 benign
Transcript: ENSMUST00000031513
AA Change: R42P

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000031513
Gene: ENSMUSG00000029538
AA Change: R42P

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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. 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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A G 10: 100,437,873 (GRCm39) E94G probably benign Het
Abhd16a G T 17: 35,313,236 (GRCm39) R118L probably damaging Het
Adamts1 A G 16: 85,599,400 (GRCm39) S67P probably benign Het
Adar C T 3: 89,658,466 (GRCm39) P656L probably damaging Het
Afg3l1 G A 8: 124,216,648 (GRCm39) D296N probably benign Het
Akap9 G A 5: 4,088,659 (GRCm39) R2096Q probably damaging Het
Aldh1a2 T A 9: 71,160,205 (GRCm39) I77K probably benign Het
Cacnb4 A C 2: 52,354,679 (GRCm39) V233G probably damaging Het
Cage1 T A 13: 38,206,987 (GRCm39) Q286L probably damaging Het
Camta1 T A 4: 151,170,577 (GRCm39) K1055* probably null Het
Ccdc96 C A 5: 36,642,252 (GRCm39) probably benign Het
Cep70 T C 9: 99,160,073 (GRCm39) probably null Het
Cwc27 G T 13: 104,940,772 (GRCm39) P196T probably benign Het
Cwc27 C A 13: 104,940,776 (GRCm39) L194F possibly damaging Het
Ddx24 G T 12: 103,376,160 (GRCm39) L779I probably benign Het
Dock7 T C 4: 98,952,336 (GRCm39) E378G possibly damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Flnc A G 6: 29,438,621 (GRCm39) N172D probably damaging Het
Gprin3 C A 6: 59,331,466 (GRCm39) Q280H possibly damaging Het
Gprin3 T A 6: 59,331,467 (GRCm39) Q280L probably benign Het
Gucy2d C A 7: 98,099,237 (GRCm39) P351Q probably damaging Het
H2-M11 G A 17: 36,858,985 (GRCm39) G175D probably benign Het
Klhl42 C T 6: 147,009,241 (GRCm39) T360M probably benign Het
Lama1 G A 17: 68,120,948 (GRCm39) E2695K Het
Lsg1 T C 16: 30,400,919 (GRCm39) Q130R probably benign Het
Macf1 T C 4: 123,349,237 (GRCm39) T2100A probably benign Het
Muc16 T C 9: 18,554,444 (GRCm39) T3950A unknown Het
Myo1c G A 11: 75,549,213 (GRCm39) R109H probably damaging Het
Nol4 C A 18: 23,171,638 (GRCm39) A8S probably benign Het
Or1e1f A T 11: 73,855,913 (GRCm39) T160S probably damaging Het
Or1p1b A G 11: 74,131,016 (GRCm39) I209V probably benign Het
Pabpn1l C T 8: 123,347,625 (GRCm39) V216M possibly damaging Het
Papln A C 12: 83,825,255 (GRCm39) probably null Het
Pcsk5 A T 19: 17,549,864 (GRCm39) C709* probably null Het
Pglyrp3 T A 3: 91,921,941 (GRCm39) V3E probably benign Het
Pla2g4f T C 2: 120,130,963 (GRCm39) N831D probably damaging Het
Prp2rt T C 13: 97,235,492 (GRCm39) D85G probably damaging Het
Prss22 T C 17: 24,215,802 (GRCm39) D40G probably benign Het
Rap1gap2 A G 11: 74,316,057 (GRCm39) F208S probably benign Het
Sipa1l2 A T 8: 126,218,985 (GRCm39) N117K probably damaging Het
Stat3 A T 11: 100,785,924 (GRCm39) I451N probably damaging Het
Tecrl A T 5: 83,428,367 (GRCm39) Y301* probably null Het
Togaram1 T C 12: 65,033,216 (GRCm39) S1065P probably benign Het
Usp48 T A 4: 137,350,630 (GRCm39) L39Q probably null Het
Utp20 A T 10: 88,654,365 (GRCm39) S241T probably damaging Het
Vmn2r50 A G 7: 9,783,997 (GRCm39) F159S probably damaging Het
Wdr76 A C 2: 121,341,038 (GRCm39) N28H probably damaging Het
Zfhx2 T A 14: 55,310,353 (GRCm39) Y731F possibly damaging Het
Zfhx4 A T 3: 5,307,762 (GRCm39) E329D probably damaging Het
Zswim8 A T 14: 20,760,744 (GRCm39) Q83L possibly damaging 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
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
R8871:Srsf9 UTSW 5 115,468,712 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGGCTACCCCTTTAAGATCG -3'
(R):5'- TCCGATTGAAGGAAGTGACACC -3'

Sequencing Primer
(F):5'- TTCCCACAATGCAGTGCG -3'
(R):5'- AATCCTCACCGCGGGTCCTCGAAG -3'
Posted On 2021-01-18