Incidental Mutation 'IGL02544:Srsf7'
ID 297741
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srsf7
Ensembl Gene ENSMUSG00000024097
Gene Name serine and arginine-rich splicing factor 7
Synonyms 9G8, NX-96, Sfrs7, 9430065L19Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02544
Quality Score
Status
Chromosome 17
Chromosomal Location 80507509-80514734 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 80511620 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: L168H
SMART Domains Protein: ENSMUSP00000070983
Gene: ENSMUSG00000024097
AA Change: L168H

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A C 5: 77,049,961 (GRCm39) S12A probably benign Het
Abcb5 A T 12: 118,870,003 (GRCm39) probably benign Het
Acap3 G A 4: 155,976,867 (GRCm39) E6K possibly damaging Het
Ano3 A T 2: 110,488,594 (GRCm39) I946K possibly damaging Het
Arid1a A G 4: 133,409,059 (GRCm39) V1816A unknown Het
Cacna1c C T 6: 118,728,440 (GRCm39) G335R probably damaging Het
Ccnh C A 13: 85,350,460 (GRCm39) Y118* probably null Het
Cep76 C T 18: 67,768,020 (GRCm39) probably benign Het
Cyp2c65 T C 19: 39,079,082 (GRCm39) V387A probably damaging Het
Dapk1 T G 13: 60,899,031 (GRCm39) S834A probably benign Het
Ddx39a T C 8: 84,449,402 (GRCm39) S367P probably benign Het
Dicer1 A G 12: 104,681,091 (GRCm39) I474T probably damaging Het
Dnah10 G A 5: 124,876,069 (GRCm39) R2579H probably benign Het
Dnajc16 T C 4: 141,491,958 (GRCm39) N622D probably damaging Het
Eif3c G T 7: 126,146,784 (GRCm39) S799* probably null Het
Fbxo9 A G 9: 77,994,541 (GRCm39) Y259H probably damaging Het
Fpr-rs4 A T 17: 18,242,473 (GRCm39) H160L probably benign Het
Galc A T 12: 98,197,701 (GRCm39) V336D probably benign Het
Matcap1 C T 8: 106,010,092 (GRCm39) V286M probably benign Het
Mfrp T C 9: 44,014,091 (GRCm39) L153P probably damaging Het
Mtx1 C A 3: 89,117,703 (GRCm39) W30L probably damaging Het
Mysm1 A T 4: 94,840,543 (GRCm39) D624E probably damaging Het
Naa16 A G 14: 79,573,260 (GRCm39) F837L probably damaging Het
Or10ag56 C T 2: 87,139,471 (GRCm39) R113C possibly damaging Het
Or1j17 A G 2: 36,578,848 (GRCm39) Y278C probably damaging Het
Or2ag1 T C 7: 106,313,742 (GRCm39) I49V probably benign Het
Or5h25 A T 16: 58,930,507 (GRCm39) H155Q probably damaging Het
Pde4d G T 13: 109,877,057 (GRCm39) D137Y probably damaging Het
Pik3r1 G T 13: 101,823,784 (GRCm39) R534S probably damaging Het
Pira12 T A 7: 3,900,185 (GRCm39) Y139F probably damaging Het
Plekha5 A C 6: 140,535,454 (GRCm39) E239A possibly damaging Het
Psap G T 10: 60,136,405 (GRCm39) probably benign Het
Rap2b T C 3: 61,272,560 (GRCm39) F28S probably damaging Het
Rfc5 A T 5: 117,524,931 (GRCm39) probably benign Het
Ryr1 C T 7: 28,815,024 (GRCm39) D175N probably benign Het
Sbno1 T G 5: 124,542,046 (GRCm39) I370L probably damaging Het
Slc17a6 T A 7: 51,315,903 (GRCm39) C390* probably null Het
Tbc1d10c C T 19: 4,237,959 (GRCm39) D272N probably benign Het
Tll2 A G 19: 41,124,404 (GRCm39) F204L probably damaging Het
Tmc1 T A 19: 20,884,327 (GRCm39) T38S probably benign Het
Tmem184b A T 15: 79,250,007 (GRCm39) I256K probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Trip11 G A 12: 101,859,780 (GRCm39) R365W probably damaging Het
Ubr4 C T 4: 139,142,429 (GRCm39) P1339S probably damaging Het
Vmn2r83 T A 10: 79,317,293 (GRCm39) probably benign Het
Other mutations in Srsf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02059:Srsf7 APN 17 80,510,121 (GRCm39) missense probably null
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
R7683:Srsf7 UTSW 17 80,514,703 (GRCm39) unclassified probably benign
R8373:Srsf7 UTSW 17 80,512,815 (GRCm39) missense probably benign 0.05
Posted On 2015-04-16