Incidental Mutation 'R6551:Srsf7'
ID 521656
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 044676-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6551 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 80507509-80514734 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to C at 80511648 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 unknown
Transcript: ENSMUST00000063417
AA Change: S159A
SMART Domains Protein: ENSMUSP00000070983
Gene: ENSMUSG00000024097
AA Change: S159A

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: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (41/41)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A T 1: 192,856,831 (GRCm39) Q61L probably damaging Het
Acss2 T C 2: 155,393,128 (GRCm39) S285P probably benign Het
Ager A G 17: 34,818,442 (GRCm39) probably null Het
Alkbh7 T A 17: 57,305,945 (GRCm39) Y115* probably null Het
Brwd1 T C 16: 95,795,162 (GRCm39) D2184G possibly damaging Het
Chp1 T A 2: 119,402,294 (GRCm39) H89Q possibly damaging Het
Clmp T C 9: 40,682,573 (GRCm39) V119A probably benign Het
Cryge A T 1: 65,087,796 (GRCm39) M171K probably benign Het
Cttnbp2nl A T 3: 104,912,433 (GRCm39) S484T possibly damaging Het
Dsg3 C A 18: 20,672,968 (GRCm39) P880T unknown Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Espn T C 4: 152,213,223 (GRCm39) Het
Fbxo31 A C 8: 122,291,443 (GRCm39) probably benign Het
Grin2b A G 6: 135,710,342 (GRCm39) V1068A probably damaging Het
Jak1 C A 4: 101,051,040 (GRCm39) probably benign Het
Klra10 A T 6: 130,252,718 (GRCm39) D185E probably benign Het
Lhx1 A C 11: 84,412,739 (GRCm39) D60E probably benign Het
Lyar C A 5: 38,390,616 (GRCm39) A326D probably damaging Het
Muc16 A C 9: 18,473,858 (GRCm39) S1280A possibly damaging Het
Nol9 G A 4: 152,136,325 (GRCm39) V466I possibly damaging Het
Or10d1 C A 9: 39,483,856 (GRCm39) R233L probably benign Het
Or12e8 T C 2: 87,677,005 (GRCm39) V130A possibly damaging Het
Or1e17 T C 11: 73,831,129 (GRCm39) I19T probably benign Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or2w3b A T 11: 58,623,583 (GRCm39) M136K probably damaging Het
Or2y10 G T 11: 49,454,816 (GRCm39) V23L probably benign Het
Pik3c2a A T 7: 116,016,731 (GRCm39) I342N probably damaging Het
Pnldc1 A G 17: 13,124,456 (GRCm39) M133T probably damaging Het
Rab11fip1 G A 8: 27,646,512 (GRCm39) S188L probably damaging Het
Rapgef2 A T 3: 79,122,342 (GRCm39) probably null Het
Rnf103 G A 6: 71,487,349 (GRCm39) C660Y probably damaging Het
Rph3al G A 11: 75,797,372 (GRCm39) S108F possibly damaging Het
Ssrp1 A G 2: 84,871,450 (GRCm39) probably null Het
Tamm41 T C 6: 114,989,142 (GRCm39) D284G possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem39b A G 4: 129,585,896 (GRCm39) V25A probably benign Het
Tmem88b G T 4: 155,870,149 (GRCm39) probably benign Het
Unk T C 11: 115,941,550 (GRCm39) W266R probably damaging Het
Usp8 T A 2: 126,575,102 (GRCm39) probably benign Het
Zbtb48 T G 4: 152,106,678 (GRCm39) Q142P probably benign Het
Zdhhc18 T C 4: 133,340,960 (GRCm39) T267A probably benign Het
Zfp335 G A 2: 164,751,285 (GRCm39) P94S 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
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
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'- GAAGATACTTCACTGTGTCACCAAG -3'
(R):5'- GGTCACGATCTAGATCCCATTCC -3'

Sequencing Primer
(F):5'- CAATCCCAGTGATTAGGTGGC -3'
(R):5'- TAGATCCCATTCCCGATCCAGG -3'
Posted On 2018-06-06