Incidental Mutation 'IGL01365:Srsf1'
ID75914
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srsf1
Ensembl Gene ENSMUSG00000018379
Gene Nameserine/arginine-rich splicing factor 1
Synonyms5730507C05Rik, Sfrs1, 6330415C05Rik, 1110054N12Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01365
Quality Score
Status
Chromosome11
Chromosomal Location88047373-88053755 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 88049181 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 173 (R173L)
Ref Sequence ENSEMBL: ENSMUSP00000133517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079866] [ENSMUST00000107920] [ENSMUST00000139129]
Predicted Effect possibly damaging
Transcript: ENSMUST00000079866
AA Change: R173L

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133517
Gene: ENSMUSG00000018379
AA Change: R173L

DomainStartEndE-ValueType
RRM 17 87 2.85e-19 SMART
low complexity region 89 119 N/A INTRINSIC
RRM 122 188 4.97e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107920
AA Change: R173L

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103553
Gene: ENSMUSG00000018379
AA Change: R173L

DomainStartEndE-ValueType
RRM 17 87 2.85e-19 SMART
low complexity region 89 119 N/A INTRINSIC
RRM 122 188 1.39e-8 SMART
low complexity region 196 246 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129337
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132983
Predicted Effect unknown
Transcript: ENSMUST00000134824
AA Change: R82L
SMART Domains Protein: ENSMUSP00000114549
Gene: ENSMUSG00000018379
AA Change: R82L

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
RRM 32 98 1.43e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000139129
AA Change: R173L

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120595
Gene: ENSMUSG00000018379
AA Change: R173L

DomainStartEndE-ValueType
RRM 17 87 2.85e-19 SMART
low complexity region 89 119 N/A INTRINSIC
RRM 122 188 1.39e-8 SMART
low complexity region 196 247 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171976
Predicted Effect probably benign
Transcript: ENSMUST00000172186
SMART Domains Protein: ENSMUSP00000128190
Gene: ENSMUSG00000018379

DomainStartEndE-ValueType
SCOP:d1fjeb2 17 43 5e-3 SMART
PDB:2M8D|B 22 47 8e-12 PDB
Blast:RRM 25 47 1e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181900
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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous null mice display early embryonic lethality. Cardiac specific conditional deletion mutants shows cardiac malfunction and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 G T 8: 83,723,889 probably null Het
Agtr1a A G 13: 30,381,828 Y292C probably damaging Het
Btbd11 T C 10: 85,633,816 V867A possibly damaging Het
CK137956 A G 4: 127,951,342 S203P probably benign Het
Cnbd1 C T 4: 18,860,576 G390D probably damaging Het
Cttnbp2nl T C 3: 105,005,030 T513A probably damaging Het
Dppa2 A G 16: 48,313,913 K67R possibly damaging Het
Kif3a A G 11: 53,593,523 K486E possibly damaging Het
Lmnb2 G T 10: 80,904,984 Q151K probably benign Het
Lmtk3 T A 7: 45,790,907 L223Q probably damaging Het
Lrrk1 A G 7: 66,287,701 I901T probably damaging Het
Macf1 T C 4: 123,391,169 Y3624C probably damaging Het
Mios T A 6: 8,216,089 Y428* probably null Het
Myb A G 10: 21,152,502 I154T probably benign Het
Olfr294 T C 7: 86,615,997 Y216C probably damaging Het
Parp9 C T 16: 35,947,954 T168I possibly damaging Het
Pramel7 T C 2: 87,491,413 probably benign Het
Ptar1 T A 19: 23,705,801 W140R probably damaging Het
Sec14l2 G T 11: 4,098,317 D400E probably benign Het
Setd3 A T 12: 108,157,906 Y175N probably damaging Het
Slc5a8 C T 10: 88,892,097 probably benign Het
Slc8a3 A G 12: 81,315,376 V223A probably damaging Het
Svep1 T A 4: 58,100,878 probably null Het
Tead2 T A 7: 45,217,251 D11E probably damaging Het
Trappc12 T A 12: 28,747,402 I44F probably damaging Het
Ttll9 T C 2: 153,000,134 Y303H possibly damaging Het
Vmn1r28 T A 6: 58,265,191 N6K possibly damaging Het
Other mutations in Srsf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02949:Srsf1 APN 11 88049526 intron probably benign
IGL03100:Srsf1 APN 11 88049128 missense probably damaging 1.00
R4898:Srsf1 UTSW 11 88049962 splice site probably null
R5261:Srsf1 UTSW 11 88047858 missense possibly damaging 0.96
R5328:Srsf1 UTSW 11 88049993 utr 3 prime probably benign
R5593:Srsf1 UTSW 11 88047879 missense possibly damaging 0.47
R5849:Srsf1 UTSW 11 88047858 missense possibly damaging 0.56
R6143:Srsf1 UTSW 11 88049599 intron probably benign
R7151:Srsf1 UTSW 11 88049258 nonsense probably null
Posted On2013-10-07