Incidental Mutation 'IGL03373:Sfpq'
ID420375
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sfpq
Ensembl Gene ENSMUSG00000028820
Gene Namesplicing factor proline/glutamine rich (polypyrimidine tract binding protein associated)
Synonyms2810416M14Rik, PSF, 1110004P21Rik, 5730453G22Rik, REP1, D4Ertd314e, 9030402K04Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03373
Quality Score
Status
Chromosome4
Chromosomal Location127021324-127037013 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 127026785 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 564 (R564S)
Ref Sequence ENSEMBL: ENSMUSP00000030623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030623]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030623
AA Change: R564S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030623
Gene: ENSMUSG00000028820
AA Change: R564S

DomainStartEndE-ValueType
low complexity region 2 33 N/A INTRINSIC
low complexity region 48 101 N/A INTRINSIC
low complexity region 105 236 N/A INTRINSIC
low complexity region 238 258 N/A INTRINSIC
RRM 290 357 3.97e-18 SMART
RRM 364 440 3.83e-11 SMART
low complexity region 526 544 N/A INTRINSIC
low complexity region 554 587 N/A INTRINSIC
low complexity region 595 614 N/A INTRINSIC
low complexity region 617 639 N/A INTRINSIC
low complexity region 660 680 N/A INTRINSIC
low complexity region 682 692 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140682
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146285
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele die. Heterozygous mice show abnormality in entrainment of circadian rhythm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a A T 12: 113,545,552 Y515F possibly damaging Het
Adgrv1 A G 13: 81,563,632 V1075A probably damaging Het
Alox8 T C 11: 69,186,617 T436A probably benign Het
Cdc7 T A 5: 106,972,919 probably benign Het
Cdhr1 T A 14: 37,096,300 D65V possibly damaging Het
Dnase1 A G 16: 4,039,843 E278G probably damaging Het
Eif3g A T 9: 20,894,426 probably benign Het
Flnb G A 14: 7,890,867 probably null Het
Hars2 G T 18: 36,785,945 R86L probably damaging Het
Lmod1 C T 1: 135,364,526 A373V possibly damaging Het
Mdga2 A G 12: 66,716,722 I200T probably damaging Het
Mup1 T G 4: 60,501,850 probably benign Het
Nat8f5 A C 6: 85,817,547 S144A probably benign Het
Ndnf A C 6: 65,704,288 Y517S possibly damaging Het
Nedd4l G A 18: 65,181,320 probably benign Het
Nlrp4g A T 9: 124,349,853 noncoding transcript Het
Nob1 C T 8: 107,418,046 probably benign Het
Nploc4 G A 11: 120,409,629 R326* probably null Het
Obox3 A T 7: 15,625,790 V318D probably benign Het
Olfr1122 T C 2: 87,388,233 F176S probably damaging Het
Olfr512 G A 7: 108,714,132 V248I probably damaging Het
Pgm2 T C 4: 99,961,544 I130T probably damaging Het
Ptprk A T 10: 28,566,537 D845V probably damaging Het
Ptx4 T A 17: 25,120,899 S17T probably benign Het
Rasgrf1 T C 9: 90,017,031 probably benign Het
Rfx6 A G 10: 51,720,000 T426A probably damaging Het
Spint2 A G 7: 29,258,209 probably benign Het
Vmn1r27 A G 6: 58,215,704 I105T probably damaging Het
Vmn1r78 T C 7: 12,153,343 S294P possibly damaging Het
Vmn2r40 T C 7: 8,920,093 D423G probably benign Het
Other mutations in Sfpq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Sfpq APN 4 127023688 missense possibly damaging 0.80
IGL00578:Sfpq APN 4 127025907 missense probably damaging 1.00
IGL01301:Sfpq APN 4 127026760 splice site probably benign
IGL02385:Sfpq APN 4 127026136 splice site probably null
R0645:Sfpq UTSW 4 127022969 missense possibly damaging 0.75
R2038:Sfpq UTSW 4 127021502 missense unknown
R3120:Sfpq UTSW 4 127022133 missense unknown
R4609:Sfpq UTSW 4 127021611 missense unknown
R4788:Sfpq UTSW 4 127025998 missense probably damaging 1.00
R5034:Sfpq UTSW 4 127023669 splice site probably benign
R5411:Sfpq UTSW 4 127021723 missense unknown
R6115:Sfpq UTSW 4 127021348 start gained probably null
R6906:Sfpq UTSW 4 127021626 small deletion probably benign
R6907:Sfpq UTSW 4 127021626 small deletion probably benign
R6908:Sfpq UTSW 4 127021626 small deletion probably benign
R6929:Sfpq UTSW 4 127021626 small deletion probably benign
R6933:Sfpq UTSW 4 127021626 small deletion probably benign
R7029:Sfpq UTSW 4 127029882 missense probably benign 0.23
R7124:Sfpq UTSW 4 127025932 missense possibly damaging 0.50
Posted On2016-08-02