Incidental Mutation 'IGL02284:Srsf3'
ID 289939
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srsf3
Ensembl Gene ENSMUSG00000071172
Gene Name serine and arginine-rich splicing factor 3
Synonyms Sfrs3, X16
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02284
Quality Score
Status
Chromosome 17
Chromosomal Location 29251634-29262346 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 29255431 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
Coding Region Coverage
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]
PHENOTYPE: Homozygous mutant mice die at early embryonic stages. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cyp3a41a A G 5: 145,641,673 (GRCm39) probably benign Het
Cyp3a44 G A 5: 145,725,179 (GRCm39) P341S possibly damaging Het
Dpp10 T C 1: 123,973,103 (GRCm39) probably benign Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gp2 A G 7: 119,049,406 (GRCm39) L377P probably damaging Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Pttg1ip T C 10: 77,423,096 (GRCm39) Y11H probably benign Het
Rasa4 T A 5: 136,130,545 (GRCm39) probably null Het
Sbf1 G A 15: 89,189,281 (GRCm39) P480L probably damaging Het
Setd1b T A 5: 123,301,491 (GRCm39) F16L possibly damaging Het
Svep1 A T 4: 58,072,819 (GRCm39) F2163L probably benign Het
Vmn2r73 T A 7: 85,507,123 (GRCm39) I730F possibly damaging Het
Zfp579 A T 7: 4,997,167 (GRCm39) L248Q probably damaging Het
Other mutations in Srsf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3962:Srsf3 UTSW 17 29,255,430 (GRCm39) splice site probably benign
R3963:Srsf3 UTSW 17 29,255,430 (GRCm39) splice site probably benign
Posted On 2015-04-16