Incidental Mutation 'R5345:Srsf9'
ID 422551
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 042924-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.485) question?
Stock # R5345 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 115465236-115471139 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115468595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 77 (D77G)
Ref Sequence ENSEMBL: ENSMUSP00000031513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031513] [ENSMUST00000139167] [ENSMUST00000149510]
AlphaFold Q9D0B0
PDB Structure Solution structure of RRM domain in protein BAB31986 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000031513
AA Change: D77G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000031513
Gene: ENSMUSG00000029538
AA Change: D77G

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 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
Meta Mutation Damage Score 0.0701 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 98% (65/66)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 T A 2: 31,687,059 (GRCm39) S519T probably damaging Het
Acap2 A G 16: 30,926,944 (GRCm39) S524P probably benign Het
Acot1 T A 12: 84,063,942 (GRCm39) I350N probably damaging Het
Adam8 A G 7: 139,567,552 (GRCm39) V397A probably benign Het
Ankar A G 1: 72,709,310 (GRCm39) M735T possibly damaging Het
Cacna1c A G 6: 118,633,497 (GRCm39) probably null Het
Cdc25b A G 2: 131,034,516 (GRCm39) S222G probably benign Het
Celsr3 T C 9: 108,709,323 (GRCm39) S1390P probably damaging Het
Clca4a T G 3: 144,676,222 (GRCm39) D104A probably damaging Het
Clcn6 A T 4: 148,123,206 (GRCm39) probably benign Het
Coq8b A G 7: 26,949,773 (GRCm39) T320A probably benign Het
Cspg5 A T 9: 110,075,698 (GRCm39) M145L probably benign Het
Cyp2c67 T A 19: 39,614,676 (GRCm39) I284F probably benign Het
Eya4 T C 10: 22,985,947 (GRCm39) I565V probably benign Het
Fbxw11 A G 11: 32,688,471 (GRCm39) N410S probably damaging Het
Gabrb2 C T 11: 42,517,636 (GRCm39) A448V possibly damaging Het
Hectd4 A G 5: 121,402,037 (GRCm39) D375G possibly damaging Het
Itsn2 T C 12: 4,722,783 (GRCm39) V1073A probably damaging Het
Kif5c A G 2: 49,613,078 (GRCm39) T139A probably benign Het
L1td1 G A 4: 98,624,684 (GRCm39) G293D probably damaging Het
Lama1 A G 17: 68,124,558 (GRCm39) M2873V probably benign Het
Msantd5f6 A T 4: 73,319,514 (GRCm39) W77R probably damaging Het
Myo15a A G 11: 60,388,364 (GRCm39) R1960G probably damaging Het
Nbeal1 T C 1: 60,367,369 (GRCm39) probably null Het
Ndufb4 A G 16: 37,474,540 (GRCm39) probably null Het
Nup153 A T 13: 46,840,341 (GRCm39) L1089* probably null Het
Or10g3 G A 14: 52,609,725 (GRCm39) R262* probably null Het
Or2l13b T A 16: 19,349,527 (GRCm39) I48F probably damaging Het
Or5aq1b A G 2: 86,901,836 (GRCm39) V214A possibly damaging Het
P2rx1 A G 11: 72,900,056 (GRCm39) T158A probably damaging Het
Park7 A G 4: 150,992,880 (GRCm39) probably benign Het
Parl A T 16: 20,116,892 (GRCm39) F102I probably damaging Het
Plxnc1 T A 10: 94,685,831 (GRCm39) H720L probably benign Het
Ptpn4 A G 1: 119,693,207 (GRCm39) S140P probably benign Het
Rel A G 11: 23,692,462 (GRCm39) S524P probably benign Het
Ripply2 A G 9: 86,901,779 (GRCm39) probably null Het
Rmc1 C T 18: 12,312,234 (GRCm39) T158M probably benign Het
Rps4l-ps T C 7: 114,526,433 (GRCm39) noncoding transcript Het
Rtn4ip1 T C 10: 43,808,466 (GRCm39) L81P probably damaging Het
Sap130 T C 18: 31,781,251 (GRCm39) L138P probably benign Het
Scp2 A T 4: 107,912,776 (GRCm39) probably null Het
Sec24c T A 14: 20,743,288 (GRCm39) M970K probably benign Het
Setd5 C T 6: 113,092,968 (GRCm39) P340L probably damaging Het
Sgcg A T 14: 61,483,218 (GRCm39) M61K probably damaging Het
Slc22a27 C G 19: 7,843,303 (GRCm39) A359P probably damaging Het
Slc34a1 A G 13: 55,548,331 (GRCm39) R21G probably benign Het
Slc7a14 A C 3: 31,278,006 (GRCm39) L533W probably damaging Het
Tab1 A T 15: 80,034,014 (GRCm39) E119V possibly damaging Het
Tcstv5 A T 13: 120,411,384 (GRCm39) V74E probably damaging Het
Tnrc6c C T 11: 117,614,113 (GRCm39) A757V possibly damaging Het
Tradd A T 8: 105,986,556 (GRCm39) I72N probably damaging Het
Trbv12-1 C T 6: 41,090,781 (GRCm39) T51M probably benign Het
Tsga10 T C 1: 37,802,392 (GRCm39) K605E probably damaging Het
Vwc2l A G 1: 70,768,077 (GRCm39) D47G probably damaging Het
Zfp647 T A 15: 76,795,695 (GRCm39) T322S possibly damaging Het
Zscan20 A C 4: 128,481,914 (GRCm39) S583A 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
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'- GTCCCAGCTGTCAAACTTTGAG -3'
(R):5'- ACACACTTCCTTGAAGGCTAG -3'

Sequencing Primer
(F):5'- ACTTTGAGTAATGTGAACGGCCC -3'
(R):5'- CTAGACTCTCGTTCAGCAAAGTGG -3'
Posted On 2016-08-04