Incidental Mutation 'R0964:Srsf3'
ID 81598
Institutional Source Beutler Lab
Gene Symbol Srsf3
Ensembl Gene ENSMUSG00000071172
Gene Name serine and arginine-rich splicing factor 3
Synonyms Sfrs3, X16
MMRRC Submission 039093-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0964 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 29251634-29262346 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29255413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 66 (L66Q)
Ref Sequence ENSEMBL: ENSMUSP00000049025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037776] [ENSMUST00000130216]
AlphaFold P84104
PDB Structure Solution structure of the RRM of SRp20 bound to the RNA CAUC [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000037776
AA Change: L66Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049025
Gene: ENSMUSG00000071172
AA Change: L66Q

DomainStartEndE-ValueType
RRM 11 79 2.74e-21 SMART
low complexity region 86 114 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000130216
AA Change: L66Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117045
Gene: ENSMUSG00000071172
AA Change: L66Q

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 0.9268 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 98% (55/56)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Acacb A T 5: 114,367,813 (GRCm39) M1604L possibly damaging Het
Acp3 A G 9: 104,204,174 (GRCm39) V40A possibly damaging Het
Adgrl1 T C 8: 84,661,041 (GRCm39) probably benign Het
Alppl2 C T 1: 87,015,446 (GRCm39) V372I possibly damaging Het
Apol8 C T 15: 77,633,811 (GRCm39) S255N probably benign Het
Atp8b4 A T 2: 126,179,413 (GRCm39) F973I probably damaging Het
Bbs4 A G 9: 59,230,259 (GRCm39) *150Q probably null Het
Bltp3a A T 17: 28,106,152 (GRCm39) T893S probably damaging Het
Cacna1h A T 17: 25,597,749 (GRCm39) probably benign Het
Ccn1 C A 3: 145,353,503 (GRCm39) C353F probably damaging Het
Ccser2 C T 14: 36,630,965 (GRCm39) probably benign Het
Chd9 A G 8: 91,741,832 (GRCm39) E1607G probably benign Het
Clca4b A G 3: 144,621,337 (GRCm39) I579T probably benign Het
Col20a1 T A 2: 180,626,278 (GRCm39) probably benign Het
Creg2 T C 1: 39,664,144 (GRCm39) I205V probably benign Het
Ddx24 C T 12: 103,390,166 (GRCm39) R275H probably damaging Het
Dip2c G A 13: 9,618,699 (GRCm39) A579T probably benign Het
Dnah3 T C 7: 119,551,962 (GRCm39) probably benign Het
Dnah8 G A 17: 30,892,894 (GRCm39) probably null Het
Gckr T C 5: 31,484,259 (GRCm39) probably benign Het
Gpbp1l1 A G 4: 116,438,436 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,281,523 (GRCm39) T1913A probably benign Het
Lmo7 T C 14: 102,158,003 (GRCm39) probably benign Het
Meioc G A 11: 102,570,857 (GRCm39) V863I probably damaging Het
Myh1 A G 11: 67,112,430 (GRCm39) D1799G probably damaging Het
Myh1 A G 11: 67,096,751 (GRCm39) I341V probably benign Het
Myh13 A G 11: 67,235,828 (GRCm39) T664A probably benign Het
Myo3b A C 2: 70,257,193 (GRCm39) D1269A probably damaging Het
Nckap1 A G 2: 80,378,243 (GRCm39) probably null Het
Nr3c2 A G 8: 77,635,297 (GRCm39) probably null Het
Nxpe5 T C 5: 138,238,186 (GRCm39) S249P probably damaging Het
Or52z1 C T 7: 103,436,604 (GRCm39) M293I probably benign Het
Or8k16 A G 2: 85,520,709 (GRCm39) N312S probably benign Het
Or9a4 T C 6: 40,549,139 (GRCm39) V273A probably benign Het
Pitpnm3 G A 11: 71,949,296 (GRCm39) T675I probably damaging Het
Plekhm1 C A 11: 103,285,908 (GRCm39) E176* probably null Het
Prdm11 C A 2: 92,819,567 (GRCm39) probably benign Het
Prodh2 C A 7: 30,205,706 (GRCm39) R218S probably damaging Het
Rps15a T C 7: 117,714,060 (GRCm39) D54G probably benign Het
Sbno2 G T 10: 79,920,093 (GRCm39) T46N possibly damaging Het
Sdk2 A G 11: 113,697,243 (GRCm39) probably benign Het
Sema3c T C 5: 17,926,907 (GRCm39) F567L probably damaging Het
Slc36a1 A G 11: 55,116,780 (GRCm39) probably benign Het
Spaca6 A T 17: 18,058,653 (GRCm39) E284V possibly damaging Het
Syne1 T C 10: 4,993,652 (GRCm39) T8363A possibly damaging Het
Trmt1 T A 8: 85,423,481 (GRCm39) L298Q probably damaging Het
Uba6 T C 5: 86,267,260 (GRCm39) I923V possibly damaging Het
Vmn2r106 G A 17: 20,487,859 (GRCm39) H847Y probably benign Het
Vmn2r15 T C 5: 109,445,401 (GRCm39) T8A probably benign Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E probably benign Het
Zbtb41 T G 1: 139,366,769 (GRCm39) F583V probably damaging Het
Zfp938 T A 10: 82,061,253 (GRCm39) I456F probably benign Het
Other mutations in Srsf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02284:Srsf3 APN 17 29,255,431 (GRCm39) splice site probably benign
R0964:Srsf3 UTSW 17 29,255,412 (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
Predicted Primers PCR Primer
(F):5'- CGTGATTCCTGTCCCTTGGATTGTAAG -3'
(R):5'- GGCCTATCCTACAGCTTCAGAGCTAC -3'

Sequencing Primer
(F):5'- ATGGACCACTCAGAAGTGTG -3'
(R):5'- TACAGCTTCAGAGCTACTGTCAG -3'
Posted On 2013-11-08