Incidental Mutation 'R4492:Srsf9'
ID 330774
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 041581-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.488) question?
Stock # R4492 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 115465236-115471139 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115470651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 117 (I117N)
Ref Sequence ENSEMBL: ENSMUSP00000121845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031513] [ENSMUST00000139167] [ENSMUST00000149510]
AlphaFold Q9D0B0
Predicted Effect probably damaging
Transcript: ENSMUST00000031513
AA Change: I181N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031513
Gene: ENSMUSG00000029538
AA Change: I181N

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: ENSMUST00000139167
SMART Domains Protein: ENSMUSP00000115090
Gene: ENSMUSG00000029536

DomainStartEndE-ValueType
Pfam:Glu-tRNAGln 69 134 2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144000
Predicted Effect probably damaging
Transcript: ENSMUST00000149510
AA Change: I117N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121845
Gene: ENSMUSG00000029538
AA Change: I117N

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 T G 10: 89,561,676 (GRCm39) I157L probably benign Het
Amph T C 13: 19,333,928 (GRCm39) V663A possibly damaging Het
Anapc16 A G 10: 59,826,724 (GRCm39) S50P possibly damaging Het
Ank3 T A 10: 69,644,755 (GRCm39) V60D probably damaging Het
Btbd9 A G 17: 30,746,545 (GRCm39) Y94H probably damaging Het
Chil3 A G 3: 106,063,017 (GRCm39) I191T probably damaging Het
Clpb T C 7: 101,436,929 (GRCm39) L668P probably damaging Het
Cyp2d22 G A 15: 82,258,571 (GRCm39) H97Y probably benign Het
Dhrs7 A T 12: 72,699,899 (GRCm39) N244K probably damaging Het
Dusp4 C T 8: 35,274,890 (GRCm39) T3M possibly damaging Het
Edc4 GGATTTTAGCCA G 8: 106,611,700 (GRCm39) probably null Het
Etl4 G A 2: 20,811,676 (GRCm39) S1621N possibly damaging Het
Fam174a T C 1: 95,241,701 (GRCm39) S54P probably benign Het
Fdxacb1 T C 9: 50,681,547 (GRCm39) F7S probably damaging Het
Focad G A 4: 88,278,142 (GRCm39) probably null Het
Gpr156 T A 16: 37,812,468 (GRCm39) L268H probably damaging Het
Gpr17 A T 18: 32,080,304 (GRCm39) I253N possibly damaging Het
H2-T23 A T 17: 36,343,058 (GRCm39) N106K probably damaging Het
Hspa4 T C 11: 53,171,296 (GRCm39) R303G probably damaging Het
Irgm1 G A 11: 48,756,955 (GRCm39) silent Het
Jph1 A C 1: 17,067,770 (GRCm39) I114S probably damaging Het
Kcna1 C T 6: 126,619,238 (GRCm39) D361N possibly damaging Het
Kcna4 G A 2: 107,126,436 (GRCm39) R390Q probably damaging Het
Lum C A 10: 97,404,300 (GRCm39) P65H probably damaging Het
Mc4r A G 18: 66,992,711 (GRCm39) L134P probably benign Het
Mroh8 A T 2: 157,099,960 (GRCm39) I248N probably damaging Het
Nos2 A G 11: 78,840,921 (GRCm39) T677A probably benign Het
Nup37 T A 10: 88,010,791 (GRCm39) F257I possibly damaging Het
Or13c3 T C 4: 52,855,764 (GRCm39) I250V probably benign Het
Or6k6 C T 1: 173,944,770 (GRCm39) V271I probably benign Het
Pdzd2 C T 15: 12,385,723 (GRCm39) D1016N possibly damaging Het
Pdzd2 A C 15: 12,419,567 (GRCm39) M501R possibly damaging Het
Pitx1 T C 13: 55,976,465 (GRCm39) K65E probably benign Het
Pla1a C T 16: 38,229,972 (GRCm39) A247T probably benign Het
Prex2 T A 1: 11,232,487 (GRCm39) S851R probably benign Het
Prss8 A G 7: 127,528,979 (GRCm39) S26P probably damaging Het
Rasef A C 4: 73,652,740 (GRCm39) L587R probably damaging Het
Rock2 T A 12: 17,027,684 (GRCm39) C1334S probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Serpina6 A G 12: 103,613,146 (GRCm39) W385R probably damaging Het
Slc12a5 T C 2: 164,821,263 (GRCm39) M249T probably benign Het
Taf1 G T X: 100,586,665 (GRCm39) M313I possibly damaging Het
Tmem30a T C 9: 79,684,567 (GRCm39) H95R probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttc21a T C 9: 119,770,346 (GRCm39) V139A probably benign Het
Zfp236 A T 18: 82,648,125 (GRCm39) V1012D probably damaging Het
Zfp612 C A 8: 110,815,929 (GRCm39) Q379K probably damaging Het
Zfp930 C T 8: 69,680,898 (GRCm39) Q198* probably null 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
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'- GTCTAGAGTGAACAGAGCTACG -3'
(R):5'- CTCTGAGCACAAAGTAGCCC -3'

Sequencing Primer
(F):5'- AGAGCTACGGGGGTTGCTC -3'
(R):5'- TGAGCACAAAGTAGCCCAGCTC -3'
Posted On 2015-07-21