Incidental Mutation 'IGL02949:Srsf1'
ID364891
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 #IGL02949
Quality Score
Status
Chromosome11
Chromosomal Location88047373-88053755 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 88049526 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000079866] [ENSMUST00000107920] [ENSMUST00000139129]
Predicted Effect probably benign
Transcript: ENSMUST00000079866
SMART Domains Protein: ENSMUSP00000133517
Gene: ENSMUSG00000018379

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 unknown
Transcript: ENSMUST00000107920
AA Change: S223G
SMART Domains Protein: ENSMUSP00000103553
Gene: ENSMUSG00000018379
AA Change: S223G

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 probably benign
Transcript: ENSMUST00000134824
SMART Domains Protein: ENSMUSP00000114549
Gene: ENSMUSG00000018379

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
RRM 32 98 1.43e-10 SMART
Predicted Effect unknown
Transcript: ENSMUST00000139129
AA Change: S223G
SMART Domains Protein: ENSMUSP00000120595
Gene: ENSMUSG00000018379
AA Change: S223G

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,617,920 V89I probably damaging Het
Abhd5 T C 9: 122,377,915 F89L possibly damaging Het
Akr1c13 T A 13: 4,198,594 V266E probably damaging Het
B4galt2 C T 4: 117,881,405 A72T probably benign Het
Ccdc141 T C 2: 77,027,594 Y1081C probably damaging Het
Coq8b T C 7: 27,256,613 V405A possibly damaging Het
Ddah2 A G 17: 35,061,800 K251E probably damaging Het
Dnah5 T C 15: 28,272,185 V1045A probably benign Het
Dpy19l1 A T 9: 24,421,180 M662K probably benign Het
Dpys A G 15: 39,826,883 V358A probably damaging Het
H2-D1 A G 17: 35,264,088 N198S probably benign Het
Hnrnpa1 T C 15: 103,242,111 V163A probably damaging Het
Hr C T 14: 70,559,785 R543C possibly damaging Het
Lct C T 1: 128,313,132 V245M probably benign Het
Lpl G A 8: 68,892,748 V135M probably damaging Het
Mblac1 T A 5: 138,194,857 C154S probably benign Het
Mmp9 T C 2: 164,951,119 F396S probably damaging Het
Mroh1 A T 15: 76,408,968 H314L probably damaging Het
Msantd4 T A 9: 4,385,196 L307Q probably damaging Het
Nol8 A G 13: 49,662,402 D662G probably benign Het
Nynrin G A 14: 55,872,380 S1648N probably damaging Het
Olfr243 A G 7: 103,717,220 I209V probably benign Het
Plcb2 C T 2: 118,719,109 probably null Het
Scyl2 T A 10: 89,660,301 N229I possibly damaging Het
Spryd3 C T 15: 102,118,109 E376K probably benign Het
Srr T G 11: 74,908,737 E304A probably benign Het
Txnrd2 T G 16: 18,477,706 S473A probably benign Het
Wdr18 T A 10: 79,965,055 C151S probably benign Het
Zfp282 C T 6: 47,897,914 T351I probably damaging Het
Other mutations in Srsf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01365:Srsf1 APN 11 88049181 missense possibly damaging 0.88
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 On2015-12-18