Incidental Mutation 'R0137:Srsf9'
ID 22015
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 038422-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.488) question?
Stock # R0137 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 5
Chromosomal Location 115465236-115471139 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115470260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 146 (D146G)
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 possibly damaging
Transcript: ENSMUST00000031513
AA Change: D146G

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031513
Gene: ENSMUSG00000029538
AA Change: D146G

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 possibly damaging
Transcript: ENSMUST00000149510
AA Change: D82G

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121845
Gene: ENSMUSG00000029538
AA Change: D82G

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 0.4491 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 91.8%
Validation Efficiency 95% (94/99)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A T 8: 120,878,115 (GRCm39) H190L possibly damaging Het
Adap1 A G 5: 139,278,976 (GRCm39) probably benign Het
Adgra3 C T 5: 50,121,182 (GRCm39) probably benign Het
Adgre5 A T 8: 84,451,527 (GRCm39) V527E probably damaging Het
Anapc5 A T 5: 122,938,695 (GRCm39) Y360N probably damaging Het
Angptl6 C A 9: 20,789,683 (GRCm39) A70S probably benign Het
Ankdd1a C A 9: 65,417,610 (GRCm39) K137N probably null Het
Ccdc170 T C 10: 4,496,950 (GRCm39) probably benign Het
Ccdc51 A G 9: 108,920,698 (GRCm39) E195G probably damaging Het
Cdc37 A T 9: 21,053,426 (GRCm39) C204S possibly damaging Het
Cfap36 T C 11: 29,172,431 (GRCm39) probably benign Het
Col6a2 C A 10: 76,432,259 (GRCm39) G965C probably damaging Het
Csn1s2a G A 5: 87,926,826 (GRCm39) S53N possibly damaging Het
Dab2ip T C 2: 35,582,388 (GRCm39) probably null Het
Dhx58 A G 11: 100,587,823 (GRCm39) V578A probably damaging Het
Diaph1 G T 18: 38,024,902 (GRCm39) Q520K unknown Het
Eefsec C A 6: 88,274,631 (GRCm39) K444N probably benign Het
Eftud2 A T 11: 102,759,443 (GRCm39) H153Q possibly damaging Het
Eif5b T G 1: 38,058,324 (GRCm39) S209A probably benign Het
Exosc2 T A 2: 31,562,497 (GRCm39) Y46N probably damaging Het
F2 C T 2: 91,456,075 (GRCm39) G562D probably damaging Het
Fgf23 G A 6: 127,057,128 (GRCm39) G148D probably damaging Het
Fmnl3 G C 15: 99,220,619 (GRCm39) probably benign Het
Fstl5 G A 3: 76,614,786 (GRCm39) G179R probably damaging Het
Garre1 A T 7: 33,938,644 (GRCm39) W246R probably damaging Het
Gart T A 16: 91,422,282 (GRCm39) Q745L probably benign Het
Gmeb1 T A 4: 131,959,419 (GRCm39) M212L probably benign Het
Gpaa1 T C 15: 76,218,981 (GRCm39) Y548H probably damaging Het
Gpatch1 T C 7: 34,986,667 (GRCm39) E763G probably damaging Het
Grm8 T A 6: 27,762,389 (GRCm39) I279F probably damaging Het
Hcls1 T A 16: 36,771,536 (GRCm39) H147Q probably damaging Het
Hpcal1 A C 12: 17,836,389 (GRCm39) D73A probably damaging Het
Il22ra1 T C 4: 135,478,317 (GRCm39) S463P probably benign Het
Itgbl1 G A 14: 124,078,098 (GRCm39) probably null Het
Izumo3 G T 4: 92,035,437 (GRCm39) probably benign Het
Kcna5 A T 6: 126,510,346 (GRCm39) L594Q probably damaging Het
Kif13a A T 13: 46,918,079 (GRCm39) D409E probably benign Het
Kif9 A T 9: 110,314,106 (GRCm39) I39F probably damaging Het
Klri2 C T 6: 129,709,171 (GRCm39) R227H possibly damaging Het
Lamc3 G A 2: 31,798,628 (GRCm39) G445S probably damaging Het
Lctl A G 9: 64,024,980 (GRCm39) probably benign Het
Lrp4 T C 2: 91,325,327 (GRCm39) L1384P probably damaging Het
Mcm9 G A 10: 53,439,526 (GRCm39) S549L possibly damaging Het
Ms4a15 G A 19: 10,956,697 (GRCm39) probably benign Het
Mtor T C 4: 148,555,081 (GRCm39) V901A possibly damaging Het
Nckap1l A T 15: 103,390,391 (GRCm39) I721F probably benign Het
Nemp2 T C 1: 52,684,588 (GRCm39) V298A probably benign Het
Npc1l1 T A 11: 6,178,148 (GRCm39) K421* probably null Het
Npr1 C T 3: 90,363,244 (GRCm39) V879M probably damaging Het
Odad4 A G 11: 100,454,394 (GRCm39) E393G probably damaging Het
Or2ad1 A G 13: 21,326,336 (GRCm39) V297A possibly damaging Het
Or51q1c A G 7: 103,652,709 (GRCm39) T82A probably benign Het
Osgin1 A T 8: 120,169,219 (GRCm39) I39F possibly damaging Het
Phip G C 9: 82,809,244 (GRCm39) probably null Het
Pkdrej G T 15: 85,705,768 (GRCm39) P56Q possibly damaging Het
Plcxd2 A G 16: 45,800,889 (GRCm39) Y112H probably damaging Het
Plekha1 C T 7: 130,499,176 (GRCm39) T155M probably damaging Het
Prkdc T C 16: 15,558,196 (GRCm39) probably null Het
Prss1 A G 6: 41,439,495 (GRCm39) H76R probably damaging Het
Psg23 T C 7: 18,348,558 (GRCm39) D83G probably benign Het
Ptprd T A 4: 76,055,140 (GRCm39) Q196L probably benign Het
Ranbp3l A T 15: 9,063,067 (GRCm39) H292L probably damaging Het
Ranbp6 T C 19: 29,787,097 (GRCm39) E1085G probably benign Het
Rccd1 A G 7: 79,970,326 (GRCm39) V97A possibly damaging Het
Rchy1 T C 5: 92,105,458 (GRCm39) S48G probably benign Het
Rnmt G A 18: 68,446,771 (GRCm39) M265I probably benign Het
Robo3 A T 9: 37,336,640 (GRCm39) M376K probably benign Het
Rrp12 T C 19: 41,862,289 (GRCm39) D898G probably benign Het
Scg3 A T 9: 75,570,462 (GRCm39) probably benign Het
Sec31b A T 19: 44,522,821 (GRCm39) M57K probably damaging Het
Slc17a6 A C 7: 51,315,892 (GRCm39) I387L probably benign Het
Speer4a1 T A 5: 26,240,982 (GRCm39) Q170L possibly damaging Het
Ss18 A G 18: 14,788,200 (GRCm39) M90T probably damaging Het
Syna A T 5: 134,588,314 (GRCm39) F212I possibly damaging Het
Tex54 A G 19: 8,718,221 (GRCm39) probably benign Het
Thsd1 A G 8: 22,733,055 (GRCm39) H34R probably damaging Het
Tmem143 T C 7: 45,547,086 (GRCm39) I84T probably benign Het
Trim50 T C 5: 135,395,487 (GRCm39) V281A probably damaging Het
Trp53i11 C A 2: 93,029,696 (GRCm39) probably benign Het
Ttll4 C T 1: 74,718,851 (GRCm39) T234I possibly damaging Het
Ttyh1 A T 7: 4,127,719 (GRCm39) I136F possibly damaging Het
Ube2f T C 1: 91,189,976 (GRCm39) probably benign Het
Vcl T A 14: 21,037,083 (GRCm39) L227* probably null Het
Vmn1r222 A C 13: 23,416,974 (GRCm39) C80G probably damaging Het
Vps13b G T 15: 35,926,365 (GRCm39) A3889S probably benign Het
Vps8 T C 16: 21,323,136 (GRCm39) probably benign Het
Zbtb44 A G 9: 30,978,006 (GRCm39) Y422C probably damaging Het
Zfp180 A G 7: 23,805,158 (GRCm39) S526G possibly damaging Het
Zfp518a A C 19: 40,904,310 (GRCm39) E1413A probably damaging Het
Zfp629 T A 7: 127,210,858 (GRCm39) Y317F probably damaging Het
Zfp804b T C 5: 6,820,534 (GRCm39) E843G probably benign Het
Other mutations in Srsf9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Srsf9 APN 5 115,470,187 (GRCm39) missense probably damaging 1.00
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
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'- CCAGCTCTCATAGGGCATTTAGCAC -3'
(R):5'- ACACTCGGATGTAGGAAGTCTCACC -3'

Sequencing Primer
(F):5'- GCATTTAGCACGGCTGAGG -3'
(R):5'- GATGTAGGAAGTCTCACCCTGAAATC -3'
Posted On 2013-04-12