Incidental Mutation 'R5110:Prpf19'
ID 393833
Institutional Source Beutler Lab
Gene Symbol Prpf19
Ensembl Gene ENSMUSG00000024735
Gene Name pre-mRNA processing factor 19
Synonyms D19Wsu55e, PSO4, Snev, Prp19
MMRRC Submission 042698-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5110 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 10872595-10886923 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 10876651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025642] [ENSMUST00000179297]
AlphaFold Q99KP6
Predicted Effect probably benign
Transcript: ENSMUST00000025642
SMART Domains Protein: ENSMUSP00000025642
Gene: ENSMUSG00000024735

DomainStartEndE-ValueType
Ubox 2 68 3.65e-29 SMART
Pfam:Prp19 94 154 1.5e-25 PFAM
WD40 225 269 4.62e-1 SMART
WD40 272 311 6.32e-11 SMART
WD40 314 353 1.31e-3 SMART
WD40 356 397 2.65e-4 SMART
WD40 400 439 7.79e-11 SMART
WD40 442 482 5.92e1 SMART
WD40 483 522 4.48e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178868
SMART Domains Protein: ENSMUSP00000137435
Gene: ENSMUSG00000024735

DomainStartEndE-ValueType
Pfam:Prp19 1 50 7.9e-23 PFAM
WD40 121 165 4.62e-1 SMART
WD40 168 207 6.32e-11 SMART
WD40 210 249 1.31e-3 SMART
WD40 252 293 2.65e-4 SMART
WD40 296 335 7.79e-11 SMART
WD40 338 378 5.92e1 SMART
WD40 379 418 4.48e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179297
SMART Domains Protein: ENSMUSP00000136858
Gene: ENSMUSG00000024735

DomainStartEndE-ValueType
Ubox 2 68 2.43e-25 SMART
Pfam:Prp19 95 153 1.3e-26 PFAM
WD40 225 269 4.62e-1 SMART
WD40 272 311 6.32e-11 SMART
WD40 314 353 1.31e-3 SMART
WD40 356 397 2.65e-4 SMART
WD40 400 439 7.79e-11 SMART
WD40 442 482 5.92e1 SMART
WD40 483 522 4.48e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186416
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187751
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191092
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191552
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PSO4 is the human homolog of yeast Pso4, a gene essential for cell survival and DNA repair (Beck et al., 2008 [PubMed 18263876]).[supplied by OMIM, Sep 2008]
PHENOTYPE: Mice homozygous for a null allele die prior to implantation and have defective cell proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik C A 9: 124,057,987 (GRCm39) probably null Het
2310016G11Rik G A 7: 44,327,286 (GRCm39) noncoding transcript Het
Abi2 G A 1: 60,489,280 (GRCm39) V98I probably benign Het
Adam21 T C 12: 81,606,989 (GRCm39) T258A probably benign Het
Adam33 A T 2: 130,895,690 (GRCm39) C542S probably damaging Het
Adamts15 A G 9: 30,832,740 (GRCm39) V265A probably benign Het
Ahnak A T 19: 8,992,123 (GRCm39) D4469V probably damaging Het
Aicda A G 6: 122,538,144 (GRCm39) N101D probably benign Het
Als2 A T 1: 59,224,600 (GRCm39) D1040E probably damaging Het
Car15 T C 16: 17,653,211 (GRCm39) R319G possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Col1a1 T C 11: 94,832,419 (GRCm39) probably null Het
Col25a1 A G 3: 130,378,374 (GRCm39) *594W probably null Het
Cwf19l2 A G 9: 3,450,012 (GRCm39) probably null Het
Dctn4 C T 18: 60,679,387 (GRCm39) P236S probably damaging Het
Dennd2b A G 7: 109,141,697 (GRCm39) S556P probably benign Het
Ehmt1 C A 2: 24,742,802 (GRCm39) C459F probably benign Het
Enox1 T C 14: 77,945,127 (GRCm39) probably null Het
Fam136b-ps A G 15: 31,276,856 (GRCm39) probably benign Het
Fzd1 T C 5: 4,806,448 (GRCm39) D378G probably benign Het
Golga5 G A 12: 102,438,336 (GRCm39) R17Q probably benign Het
Hk1 A T 10: 62,122,430 (GRCm39) Y422N probably damaging Het
Hsf4 A G 8: 105,999,427 (GRCm39) D255G probably benign Het
Ift81 A G 5: 122,689,121 (GRCm39) V665A probably benign Het
Igkv13-84 T C 6: 68,916,592 (GRCm39) F3L probably benign Het
Kcnh1 T A 1: 192,020,055 (GRCm39) S433R possibly damaging Het
Ktn1 A G 14: 47,941,744 (GRCm39) probably benign Het
Lrp4 A T 2: 91,327,417 (GRCm39) D1471V possibly damaging Het
Macf1 A T 4: 123,261,801 (GRCm39) D6990E probably damaging Het
Map3k6 G A 4: 132,974,859 (GRCm39) probably benign Het
Miox T A 15: 89,219,759 (GRCm39) D82E probably benign Het
Or4n5 T G 14: 50,133,032 (GRCm39) I76L possibly damaging Het
Ovgp1 G C 3: 105,885,099 (GRCm39) R133P probably damaging Het
Per2 G A 1: 91,357,237 (GRCm39) T642I possibly damaging Het
Pparg T C 6: 115,449,964 (GRCm39) V321A probably damaging Het
Pptc7 T A 5: 122,446,312 (GRCm39) N17K probably benign Het
Rai14 T C 15: 10,690,496 (GRCm39) probably benign Het
Sardh T C 2: 27,079,559 (GRCm39) D911G probably benign Het
Sbf2 T A 7: 109,963,864 (GRCm39) T994S probably benign Het
Slc1a1 G A 19: 28,889,208 (GRCm39) E494K probably benign Het
Smarcc1 A G 9: 110,026,852 (GRCm39) K771E possibly damaging Het
Stim1 T C 7: 101,917,629 (GRCm39) V3A unknown Het
Syne3 G A 12: 104,909,629 (GRCm39) R736C probably benign Het
Synj2 T C 17: 6,087,990 (GRCm39) V986A probably benign Het
Tinag A G 9: 76,859,289 (GRCm39) S440P probably damaging Het
Tshz2 A G 2: 169,726,117 (GRCm39) T238A possibly damaging Het
Ttc8 T C 12: 98,908,562 (GRCm39) M17T probably benign Het
Tubgcp5 G A 7: 55,458,385 (GRCm39) R432Q probably damaging Het
Ugt1a10 T A 1: 87,983,974 (GRCm39) probably null Het
Usp4 T A 9: 108,239,877 (GRCm39) I202N probably damaging Het
Vmn1r194 T G 13: 22,429,170 (GRCm39) S262R probably benign Het
Vmn2r101 T C 17: 19,831,897 (GRCm39) F631S possibly damaging Het
Vps13b T A 15: 35,770,955 (GRCm39) S2133T probably damaging Het
Zfp13 C A 17: 23,799,834 (GRCm39) V77F probably benign Het
Zscan10 T A 17: 23,828,606 (GRCm39) C306S probably damaging Het
Other mutations in Prpf19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Prpf19 APN 19 10,877,567 (GRCm39) missense probably damaging 0.99
IGL01395:Prpf19 APN 19 10,878,375 (GRCm39) missense probably damaging 0.98
IGL02111:Prpf19 APN 19 10,882,458 (GRCm39) missense probably benign
IGL02163:Prpf19 APN 19 10,879,800 (GRCm39) missense probably benign 0.07
IGL02653:Prpf19 APN 19 10,880,328 (GRCm39) splice site probably benign
bojan UTSW 19 10,875,154 (GRCm39) intron probably benign
R0179:Prpf19 UTSW 19 10,875,172 (GRCm39) splice site probably benign
R1503:Prpf19 UTSW 19 10,878,386 (GRCm39) missense possibly damaging 0.65
R1856:Prpf19 UTSW 19 10,879,780 (GRCm39) missense probably damaging 0.96
R2229:Prpf19 UTSW 19 10,874,962 (GRCm39) missense probably benign 0.02
R4755:Prpf19 UTSW 19 10,875,154 (GRCm39) intron probably benign
R4882:Prpf19 UTSW 19 10,876,323 (GRCm39) intron probably benign
R4972:Prpf19 UTSW 19 10,876,709 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TGTACCAACACGATGCTGCC -3'
(R):5'- TCCCATCAGAGGTGCACATG -3'

Sequencing Primer
(F):5'- AAAGAGGTCACTGCTGCTC -3'
(R):5'- GACTCACCTTCTGGATAATCTCAGGG -3'
Posted On 2016-06-15