Incidental Mutation 'IGL01301:Sfpq'
ID73262
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 #IGL01301
Quality Score
Status
Chromosome4
Chromosomal Location127021324-127037013 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 127026760 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030623]
Predicted Effect probably benign
Transcript: ENSMUST00000030623
SMART Domains Protein: ENSMUSP00000030623
Gene: ENSMUSG00000028820

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik C T 17: 14,943,919 probably null Het
Acacb A T 5: 114,246,498 I2238L probably benign Het
Aldh1l2 T C 10: 83,522,846 Y95C probably damaging Het
Asxl2 A G 12: 3,501,425 T1056A probably damaging Het
B4galnt1 A G 10: 127,169,779 T250A possibly damaging Het
Cela3b A T 4: 137,423,843 probably null Het
Chst3 T C 10: 60,185,832 T398A probably damaging Het
Cngb3 A G 4: 19,425,625 T478A probably damaging Het
Cyp4a10 T C 4: 115,518,455 L45P probably damaging Het
Defb21 A G 2: 152,574,751 E49G possibly damaging Het
Dnajc1 T C 2: 18,308,834 T159A probably damaging Het
Dnmbp A G 19: 43,902,354 S325P probably benign Het
Fam91a1 T C 15: 58,442,871 F534L probably damaging Het
Fermt2 T C 14: 45,464,863 E488G probably damaging Het
Filip1 T C 9: 79,819,180 D719G possibly damaging Het
Gad1-ps A G 10: 99,445,151 noncoding transcript Het
Glra3 C A 8: 55,940,962 A36E probably benign Het
Gm9884 T A 1: 25,830,648 probably benign Het
Hectd2 T C 19: 36,569,370 probably benign Het
Hnrnpm C T 17: 33,669,168 probably null Het
Lrrk2 T A 15: 91,767,339 Y1733N probably damaging Het
Mindy1 T C 3: 95,288,390 L148P probably damaging Het
Mkrn2 C A 6: 115,611,789 Y164* probably null Het
Msra T C 14: 64,210,435 Y135C probably damaging Het
Ndst3 C T 3: 123,548,916 A749T probably damaging Het
Ngdn G T 14: 55,017,114 A41S probably benign Het
Nlrp12 A T 7: 3,240,092 S597T probably damaging Het
Olfr1451 A T 19: 12,999,417 I144F probably damaging Het
Pabpc6 A G 17: 9,667,970 S551P probably benign Het
Plekhg5 C T 4: 152,112,553 A752V probably benign Het
Prpf4b T C 13: 34,884,291 S368P probably benign Het
Pus7 A G 5: 23,746,424 probably null Het
Rad23b T C 4: 55,366,774 probably benign Het
Rgs13 T C 1: 144,171,414 probably benign Het
Slc9a9 T A 9: 95,055,459 S455T probably benign Het
Slco1a1 A G 6: 141,932,530 probably benign Het
Tmem26 A T 10: 68,778,606 N284Y probably damaging Het
Tmem87a T C 2: 120,380,769 I232V probably benign Het
Trpm2 A G 10: 77,923,984 L1106P probably damaging Het
Vmn1r18 T C 6: 57,389,667 probably benign Het
Zfp213 G T 17: 23,561,417 A43D probably benign Het
Zfp365 A G 10: 67,909,354 V198A probably damaging Het
Zfp395 T A 14: 65,394,751 probably null Het
Zfp618 G A 4: 63,132,826 V615M probably damaging 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
IGL02385:Sfpq APN 4 127026136 splice site probably null
IGL03373:Sfpq APN 4 127026785 missense possibly damaging 0.92
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 On2013-10-07