Incidental Mutation 'R3962:Srsf3'
ID 312151
Institutional Source Beutler Lab
Gene Symbol Srsf3
Ensembl Gene ENSMUSG00000071172
Gene Name serine and arginine-rich splicing factor 3
Synonyms Sfrs3, X16
MMRRC Submission 040837-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3962 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 29251634-29262346 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 29255430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037776] [ENSMUST00000130216]
AlphaFold P84104
Predicted Effect probably benign
Transcript: ENSMUST00000037776
SMART Domains Protein: ENSMUSP00000049025
Gene: ENSMUSG00000071172

DomainStartEndE-ValueType
RRM 11 79 2.74e-21 SMART
low complexity region 86 114 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130216
SMART Domains Protein: ENSMUSP00000117045
Gene: ENSMUSG00000071172

DomainStartEndE-ValueType
RRM 11 79 2.74e-21 SMART
low complexity region 86 143 N/A INTRINSIC
low complexity region 148 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150157
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 93.9%
Validation Efficiency 96% (48/50)
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]
PHENOTYPE: Homozygous mutant mice die at early embryonic stages. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,803 (GRCm39) T595A possibly damaging Het
Abca12 A T 1: 71,313,674 (GRCm39) probably null Het
Ablim2 C T 5: 35,969,519 (GRCm39) R211C probably damaging Het
Actn4 C A 7: 28,597,647 (GRCm39) probably null Het
B3gnt5 A G 16: 19,587,798 (GRCm39) S6G probably benign Het
Bod1l T G 5: 41,966,064 (GRCm39) E2667A probably benign Het
Ccdc13 G A 9: 121,628,005 (GRCm39) probably benign Het
Ccdc15 G T 9: 37,231,782 (GRCm39) R181S probably damaging Het
Ccnd1 G A 7: 144,487,787 (GRCm39) T230M probably damaging Het
Cdcp1 T C 9: 123,011,446 (GRCm39) T344A possibly damaging Het
Fam161a T C 11: 22,973,507 (GRCm39) M275T possibly damaging Het
Fbxo15 A G 18: 84,977,372 (GRCm39) T95A probably benign Het
Fndc5 T C 4: 129,033,688 (GRCm39) V152A probably benign Het
Galk2 A T 2: 125,735,293 (GRCm39) N107I probably benign Het
Glmn A T 5: 107,708,911 (GRCm39) probably benign Het
Gm5082 T C 13: 41,809,894 (GRCm39) noncoding transcript Het
Gm5828 C T 1: 16,838,868 (GRCm39) noncoding transcript Het
Haus6 C T 4: 86,530,041 (GRCm39) A4T possibly damaging Het
Hmgcs2 G A 3: 98,198,354 (GRCm39) V86M possibly damaging Het
Hrg G A 16: 22,774,825 (GRCm39) V152I possibly damaging Het
Itga2 A T 13: 114,976,054 (GRCm39) V1106E probably damaging Het
Itga9 G A 9: 118,457,254 (GRCm39) D122N possibly damaging Het
Kif21a T A 15: 90,869,612 (GRCm39) E413V probably damaging Het
Klk1 A G 7: 43,878,973 (GRCm39) T256A possibly damaging Het
L1td1 T C 4: 98,625,686 (GRCm39) V627A probably benign Het
Larp4 C A 15: 99,910,026 (GRCm39) Q652K probably damaging Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Minar1 G A 9: 89,483,963 (GRCm39) T478I probably damaging Het
Moxd2 T A 6: 40,862,331 (GRCm39) M163L probably benign Het
Myo15a G A 11: 60,370,654 (GRCm39) R1138H probably benign Het
Oasl2 A G 5: 115,035,808 (GRCm39) D28G probably benign Het
Or6c207 A T 10: 129,104,535 (GRCm39) I219N probably damaging Het
Platr26 A T 2: 71,549,849 (GRCm39) noncoding transcript Het
Ptdss1 A G 13: 67,142,075 (GRCm39) H411R probably benign Het
Ptpra A G 2: 30,325,672 (GRCm39) T147A probably damaging Het
Rfx2 T C 17: 57,092,302 (GRCm39) Y307C probably damaging Het
Rtn3 T C 19: 7,435,510 (GRCm39) S142G probably damaging Het
Shisa6 A G 11: 66,108,302 (GRCm39) V525A probably damaging Het
Slc4a3 A G 1: 75,533,398 (GRCm39) S1007G probably damaging Het
Spmip5 A G 19: 58,777,541 (GRCm39) Y82H probably damaging Het
Taar8a A G 10: 23,953,054 (GRCm39) I219M probably damaging Het
Tars2 A G 3: 95,662,068 (GRCm39) probably null Het
Tfap2d A G 1: 19,189,189 (GRCm39) N245S probably damaging Het
Tlr6 T A 5: 65,112,328 (GRCm39) H193L probably benign Het
Tomm20l T C 12: 71,164,352 (GRCm39) V78A probably benign Het
Tsc2 G A 17: 24,840,140 (GRCm39) probably benign Het
Usp2 A G 9: 43,986,954 (GRCm39) D84G possibly damaging Het
V1ra8 A G 6: 90,180,466 (GRCm39) N223S probably benign Het
Wnk2 C A 13: 49,224,453 (GRCm39) R1122L probably damaging Het
Other mutations in Srsf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02284:Srsf3 APN 17 29,255,431 (GRCm39) splice site probably benign
R0964:Srsf3 UTSW 17 29,255,413 (GRCm39) missense probably damaging 1.00
R0964:Srsf3 UTSW 17 29,255,412 (GRCm39) missense probably damaging 1.00
R2319:Srsf3 UTSW 17 29,257,520 (GRCm39) missense unknown
R3880:Srsf3 UTSW 17 29,255,257 (GRCm39) missense probably damaging 1.00
R3963:Srsf3 UTSW 17 29,255,430 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- TCCTGTCCCTTGGATTGTAAGG -3'
(R):5'- CAAATGGCCTATCCTACAGCTTC -3'

Sequencing Primer
(F):5'- CCCTTGGATTGTAAGGTTTATGTAG -3'
(R):5'- GCTTCAGAGCTACTGTCAGG -3'
Posted On 2015-04-29