Incidental Mutation 'R7683:Srsf7'
ID 592902
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 045749-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7683 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 80507509-80514734 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 80514703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063417] [ENSMUST00000134652]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000063417
SMART Domains Protein: ENSMUSP00000070983
Gene: ENSMUSG00000024097

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
Predicted Effect probably benign
Transcript: ENSMUST00000134652
SMART Domains Protein: ENSMUSP00000123158
Gene: ENSMUSG00000046196

DomainStartEndE-ValueType
Pfam:DUF3808 69 522 7.2e-150 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 A G 13: 59,660,312 (GRCm39) C305R probably damaging Het
Anpep C A 7: 79,488,946 (GRCm39) V381L probably damaging Het
Ap5s1 T C 2: 131,054,627 (GRCm39) L146P probably damaging Het
Arhgef11 A G 3: 87,629,690 (GRCm39) I599V probably damaging Het
Arpc2 T C 1: 74,302,973 (GRCm39) Y250H probably damaging Het
Baz1b T A 5: 135,246,582 (GRCm39) M677K probably damaging Het
Begain C T 12: 108,999,413 (GRCm39) A453T unknown Het
C1ql4 T C 15: 98,985,092 (GRCm39) D173G probably benign Het
Card11 T G 5: 140,881,781 (GRCm39) N461T probably benign Het
Ccdc9 T C 7: 16,018,287 (GRCm39) D7G probably damaging Het
Ces2a T C 8: 105,463,744 (GRCm39) V152A probably benign Het
Chl1 G A 6: 103,668,613 (GRCm39) A449T possibly damaging Het
Col11a1 G T 3: 113,907,385 (GRCm39) G638W unknown Het
Cse1l A T 2: 166,764,708 (GRCm39) T171S probably benign Het
D2hgdh T A 1: 93,766,687 (GRCm39) probably null Het
Dlg4 T C 11: 69,930,680 (GRCm39) Y432H possibly damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
F11 T A 8: 45,702,545 (GRCm39) Q251L probably damaging Het
Gtf2f1 T A 17: 57,312,458 (GRCm39) E195V possibly damaging Het
Hap1 A T 11: 100,242,374 (GRCm39) L376Q probably damaging Het
Hars2 T A 18: 36,921,289 (GRCm39) I234N probably damaging Het
Hcfc2 T C 10: 82,535,063 (GRCm39) V29A probably benign Het
Hp C T 8: 110,305,731 (GRCm39) probably benign Het
Hrh1 T C 6: 114,456,748 (GRCm39) S10P probably benign Het
Kcnmb2 A G 3: 32,252,465 (GRCm39) Y222C probably damaging Het
Kdm3a A G 6: 71,576,438 (GRCm39) V792A probably benign Het
Kif13b G A 14: 64,994,956 (GRCm39) V903I probably benign Het
Lars2 G T 9: 123,206,895 (GRCm39) probably null Het
Med7 A G 11: 46,331,687 (GRCm39) D94G possibly damaging Het
Mier3 A G 13: 111,841,846 (GRCm39) T136A probably benign Het
Nin T C 12: 70,124,956 (GRCm39) E122G Het
Or5h18 G T 16: 58,847,469 (GRCm39) T267K probably benign Het
Or6k14 A G 1: 173,927,042 (GRCm39) Q6R probably benign Het
Oxsr1 T C 9: 119,070,821 (GRCm39) I489V probably benign Het
Pdcd6ip A T 9: 113,516,763 (GRCm39) L216Q probably damaging Het
Ppp4r4 T A 12: 103,553,364 (GRCm39) C379* probably null Het
Pramel24 A T 4: 143,453,284 (GRCm39) K131* probably null Het
Ptpn13 T A 5: 103,713,018 (GRCm39) C1714S probably benign Het
Pum2 G A 12: 8,778,922 (GRCm39) R498Q possibly damaging Het
Sema3d T A 5: 12,623,823 (GRCm39) Y577* probably null Het
Slc29a3 G A 10: 60,552,145 (GRCm39) P300S not run Het
Slc5a4b A G 10: 75,899,906 (GRCm39) V444A probably damaging Het
Smad9 A G 3: 54,696,685 (GRCm39) E250G probably damaging Het
Thsd7b A G 1: 129,523,683 (GRCm39) Y239C probably damaging Het
Triml2 C A 8: 43,638,325 (GRCm39) Q98K probably damaging Het
Txndc11 A T 16: 10,902,099 (GRCm39) L705Q probably damaging Het
Vmn1r22 A G 6: 57,877,404 (GRCm39) M191T probably damaging Het
Vmn2r89 A T 14: 51,692,651 (GRCm39) K151N probably benign Het
Vwa5a A G 9: 38,646,125 (GRCm39) I498V probably damaging Het
Zfp459 T C 13: 67,556,615 (GRCm39) H156R probably damaging Het
Zscan18 T A 7: 12,503,532 (GRCm39) K676* probably null 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
R3014:Srsf7 UTSW 17 80,508,990 (GRCm39) missense unknown
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
R8373:Srsf7 UTSW 17 80,512,815 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ATAACCGTCTCTAACCGCCG -3'
(R):5'- CATGGAAACGTATCCCTCCG -3'

Sequencing Primer
(F):5'- ATACCGCCCGTAGCGTGACA -3'
(R):5'- GAAACGTATCCCTCCGCTCCG -3'
Posted On 2019-11-12