Incidental Mutation 'IGL02059:Srsf7'
ID 185340
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 # IGL02059
Quality Score
Status
Chromosome 17
Chromosomal Location 80507509-80514734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80510121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 209 (S209C)
Ref Sequence ENSEMBL: ENSMUSP00000070983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063417] [ENSMUST00000134652]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000063417
AA Change: S209C
SMART Domains Protein: ENSMUSP00000070983
Gene: ENSMUSG00000024097
AA Change: S209C

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A C 11: 110,051,220 (GRCm39) probably benign Het
Anks1 A G 17: 28,227,020 (GRCm39) M558V possibly damaging Het
Arhgef1 T A 7: 24,611,977 (GRCm39) probably benign Het
Atad3a G A 4: 155,839,207 (GRCm39) probably benign Het
Bhmt2 A G 13: 93,803,171 (GRCm39) Y121H probably benign Het
Cbx5 A G 15: 103,108,192 (GRCm39) V151A probably damaging Het
Copa T A 1: 171,927,320 (GRCm39) I231N probably damaging Het
Csf3r T A 4: 125,925,920 (GRCm39) C168* probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnah9 A T 11: 65,963,784 (GRCm39) I1723N probably damaging Het
Epb42 G A 2: 120,855,188 (GRCm39) P466S probably damaging Het
Fem1b C T 9: 62,703,446 (GRCm39) V605I possibly damaging Het
Gclc T G 9: 77,695,098 (GRCm39) S403A probably damaging Het
Gpr135 A T 12: 72,116,858 (GRCm39) V303D possibly damaging Het
Gprin3 C A 6: 59,332,310 (GRCm39) probably benign Het
Grik1 T A 16: 87,852,937 (GRCm39) Q82L possibly damaging Het
Hacl1 T C 14: 31,354,891 (GRCm39) N118D probably benign Het
Hdac9 A G 12: 34,481,967 (GRCm39) V146A probably damaging Het
Hltf T C 3: 20,160,621 (GRCm39) F763L probably benign Het
Impg2 C T 16: 56,080,335 (GRCm39) S713L probably damaging Het
Ints7 T A 1: 191,347,872 (GRCm39) M748K probably benign Het
Kalrn A G 16: 34,072,711 (GRCm39) S724P possibly damaging Het
Kyat1 T C 2: 30,075,565 (GRCm39) Q359R probably benign Het
Mtmr4 A G 11: 87,491,950 (GRCm39) N206S possibly damaging Het
Nos3 T C 5: 24,573,996 (GRCm39) I227T probably damaging Het
Or52e2 T C 7: 102,804,310 (GRCm39) I215V probably benign Het
Pde1a A T 2: 79,727,421 (GRCm39) H169Q possibly damaging Het
Ppp1r13b A T 12: 111,799,781 (GRCm39) D665E probably damaging Het
Prickle4 G T 17: 48,001,174 (GRCm39) L131M probably damaging Het
Prl6a1 T A 13: 27,499,348 (GRCm39) Y39N probably benign Het
Slco6d1 T C 1: 98,374,531 (GRCm39) V350A possibly damaging Het
Syde2 C T 3: 145,707,927 (GRCm39) A622V possibly damaging Het
Ugt1a6a T A 1: 88,066,403 (GRCm39) S70T possibly damaging Het
Vmn2r39 T C 7: 9,026,643 (GRCm39) I453V probably benign Het
Zc3h7a A G 16: 10,978,862 (GRCm39) probably benign Het
Zeb1 G T 18: 5,766,892 (GRCm39) V468F probably damaging Het
Zfp148 T A 16: 33,316,933 (GRCm39) V493D probably damaging Het
Other mutations in Srsf7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2014-05-07