Incidental Mutation 'R3014:Srsf7'
ID 257616
Institutional Source Beutler Lab
Gene Symbol Srsf7
Ensembl Gene ENSMUSG00000024097
Gene Name serine and arginine-rich splicing factor 7
Synonyms 9G8, NX-96, Sfrs7, 9430065L19Rik
MMRRC Submission 040535-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3014 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 80507509-80514734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80508990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 235 (E235G)
Ref Sequence ENSEMBL: ENSMUSP00000070983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063417]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000063417
AA Change: E235G
SMART Domains Protein: ENSMUSP00000070983
Gene: ENSMUSG00000024097
AA Change: E235G

DomainStartEndE-ValueType
RRM 12 80 1.66e-20 SMART
ZnF_C2HC 105 121 1.77e-2 SMART
low complexity region 192 234 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
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. Five transcript variants, four of them 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt4 G T 2: 151,771,517 (GRCm39) V278L probably benign Het
Dmbt1 A G 7: 130,633,827 (GRCm39) probably benign Het
Dnah2 A T 11: 69,321,304 (GRCm39) N3921K probably benign Het
Duxf4 G A 10: 58,071,356 (GRCm39) T286I possibly damaging Het
Fam193a A T 5: 34,623,016 (GRCm39) E1201D probably benign Het
Gm10220 G C 5: 26,322,826 (GRCm39) D195E probably damaging Het
Gmps A G 3: 63,922,857 (GRCm39) K607E possibly damaging Het
Gprin1 T A 13: 54,886,288 (GRCm39) D662V probably benign Het
Gria4 A G 9: 4,464,294 (GRCm39) I556T probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Hcar2 A T 5: 124,002,768 (GRCm39) V245E probably damaging Het
Hmces T G 6: 87,894,823 (GRCm39) D62E probably benign Het
Ighv1-4 T A 12: 114,450,769 (GRCm39) Y113F possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kng1 C T 16: 22,898,120 (GRCm39) H507Y possibly damaging Het
Lypd10 A G 7: 24,412,821 (GRCm39) I76M possibly damaging Het
Map3k5 A T 10: 19,970,175 (GRCm39) Y694F probably damaging Het
Myo1a T G 10: 127,552,214 (GRCm39) F778V probably damaging Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Or1ad1 A G 11: 50,875,534 (GRCm39) D2G probably benign Het
Or4l1 G A 14: 50,166,489 (GRCm39) H171Y probably benign Het
Or6aa1 A G 7: 86,043,884 (GRCm39) V274A probably benign Het
Or6z6 A T 7: 6,491,470 (GRCm39) Y134* probably null Het
Parp3 C A 9: 106,348,514 (GRCm39) S507I possibly damaging Het
Ppip5k2 T A 1: 97,671,800 (GRCm39) T491S probably damaging Het
Psmg1 T A 16: 95,781,248 (GRCm39) I266F probably damaging Het
Ptpn23 T C 9: 110,218,763 (GRCm39) T476A probably benign Het
Rttn G C 18: 89,032,744 (GRCm39) V671L probably damaging Het
Sv2a G A 3: 96,096,751 (GRCm39) W416* probably null Het
Tas2r107 A G 6: 131,636,972 (GRCm39) Y26H probably benign Het
Tenm2 T C 11: 35,914,800 (GRCm39) T2245A probably damaging Het
Vmn2r13 T A 5: 109,319,627 (GRCm39) H451L possibly damaging Het
Xkr6 T C 14: 64,056,793 (GRCm39) Y235H unknown Het
Other mutations in Srsf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02059:Srsf7 APN 17 80,510,121 (GRCm39) missense probably null
IGL02544:Srsf7 APN 17 80,511,620 (GRCm39) unclassified probably benign
R1036:Srsf7 UTSW 17 80,513,266 (GRCm39) unclassified probably benign
R6004:Srsf7 UTSW 17 80,513,282 (GRCm39) missense probably damaging 1.00
R6298:Srsf7 UTSW 17 80,514,682 (GRCm39) unclassified probably benign
R6551:Srsf7 UTSW 17 80,511,648 (GRCm39) unclassified probably benign
R7683:Srsf7 UTSW 17 80,514,703 (GRCm39) unclassified probably benign
R8373:Srsf7 UTSW 17 80,512,815 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CCCACATTTTCAGACCATAAGATG -3'
(R):5'- GAGGTCTGATATCTTTGGCCTC -3'

Sequencing Primer
(F):5'- GATGGTTGATGATCCTTCC -3'
(R):5'- TTGTCCCACACACATAATTAAGAGTC -3'
Posted On 2015-01-11