Incidental Mutation 'R1036:Srsf7'
ID 93826
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 039135-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1036 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 80507509-80514734 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 80513266 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: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 86.2%
Validation Efficiency 100% (40/40)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Abca12 A G 1: 71,302,569 (GRCm39) probably null Het
Abcg1 C A 17: 31,330,243 (GRCm39) Q515K probably damaging Het
Acaa1b A T 9: 118,979,884 (GRCm39) probably benign Het
Adamts3 T C 5: 89,843,952 (GRCm39) probably benign Het
Aoah A C 13: 21,024,339 (GRCm39) probably benign Het
Arhgap10 G A 8: 78,037,398 (GRCm39) P610L probably damaging Het
Casq2 G T 3: 102,049,531 (GRCm39) A295S probably damaging Het
Col6a4 A G 9: 105,945,397 (GRCm39) Y906H probably damaging Het
Dcaf13 T A 15: 39,007,113 (GRCm39) I349N probably damaging Het
Ecd A G 14: 20,383,386 (GRCm39) probably benign Het
Enpep C A 3: 129,077,758 (GRCm39) V620L probably damaging Het
Fbln7 A G 2: 128,735,815 (GRCm39) S268G possibly damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Gatd1 T A 7: 140,989,045 (GRCm39) T205S probably damaging Het
Gbe1 T A 16: 70,325,775 (GRCm39) V604E probably damaging Het
Ghsr T A 3: 27,428,869 (GRCm39) I298N probably damaging Het
Glis1 T C 4: 107,489,461 (GRCm39) Y683H probably benign Het
Gpr162 T A 6: 124,837,823 (GRCm39) I276F probably damaging Het
Hps6 A G 19: 45,992,680 (GRCm39) T206A probably benign Het
Kcnk10 T C 12: 98,462,445 (GRCm39) probably benign Het
Krt90 A G 15: 101,471,151 (GRCm39) V37A probably benign Het
Lmbr1 T C 5: 29,463,745 (GRCm39) K160E probably damaging Het
Nif3l1 A G 1: 58,487,032 (GRCm39) T73A probably damaging Het
Nup107 A T 10: 117,593,199 (GRCm39) D826E probably damaging Het
Nup210l C T 3: 90,100,247 (GRCm39) probably benign Het
Omd A G 13: 49,743,447 (GRCm39) R166G probably damaging Het
Plekha4 T C 7: 45,199,400 (GRCm39) probably benign Het
Ptgdr A G 14: 45,096,572 (GRCm39) S47P probably damaging Het
Sec24c A G 14: 20,742,965 (GRCm39) I940V probably benign Het
Shkbp1 A G 7: 27,044,721 (GRCm39) S457P possibly damaging Het
Skint1 T C 4: 111,876,493 (GRCm39) V138A possibly damaging Het
Slc38a9 A G 13: 112,838,193 (GRCm39) probably benign Het
Spata31e5 A G 1: 28,816,883 (GRCm39) L383P probably benign Het
Stau1 T C 2: 166,793,235 (GRCm39) K300R probably damaging Het
Stox1 A T 10: 62,503,674 (GRCm39) I127K probably damaging Het
Sympk G A 7: 18,782,378 (GRCm39) R832Q probably damaging Het
Usp3 A G 9: 66,437,513 (GRCm39) probably benign 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
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
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'- TGACAGAATGAGGGCTCCAACCAC -3'
(R):5'- CCTATAAGAGCGCCAGAACTTGGTC -3'

Sequencing Primer
(F):5'- TCCAACCACCACCGGAG -3'
(R):5'- GGCTCCGAGTAGATCACTTAG -3'
Posted On 2014-01-05