Incidental Mutation 'IGL01115:Prpf19'
ID53269
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prpf19
Ensembl Gene ENSMUSG00000024735
Gene Namepre-mRNA processing factor 19
SynonymsD19Wsu55e, Snev, Prp19, PSO4
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01115
Quality Score
Status
Chromosome19
Chromosomal Location10895231-10909559 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 10900203 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 204 (T204M)
Ref Sequence ENSEMBL: ENSMUSP00000136858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025642] [ENSMUST00000179297]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025642
AA Change: T185M

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025642
Gene: ENSMUSG00000024735
AA Change: T185M

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 damaging
Transcript: ENSMUST00000179297
AA Change: T204M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136858
Gene: ENSMUSG00000024735
AA Change: T204M

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
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4430402I18Rik T C 19: 28,944,442 probably null Het
Abcc10 T C 17: 46,310,426 T934A probably benign Het
Ankzf1 T C 1: 75,192,615 L55P probably damaging Het
Aoc1 T C 6: 48,906,197 S336P probably damaging Het
Bmper T C 9: 23,399,689 probably benign Het
Capza2 A G 6: 17,654,123 N58S probably damaging Het
Cdca2 A G 14: 67,714,697 V75A probably damaging Het
Chmp7 A G 14: 69,721,323 S181P probably damaging Het
Colq A G 14: 31,545,128 probably benign Het
Dennd5b A G 6: 149,009,748 probably benign Het
Has3 A G 8: 106,878,688 T509A probably benign Het
Hsh2d T C 8: 72,200,619 S282P probably damaging Het
Impg2 C T 16: 56,259,440 P536S possibly damaging Het
Naip1 T A 13: 100,443,720 probably null Het
Napb T C 2: 148,707,169 Y111C probably damaging Het
Olfr1132 T C 2: 87,635,384 D121G probably damaging Het
Osmr A G 15: 6,847,201 probably benign Het
Pcdh10 A G 3: 45,392,775 T1002A probably damaging Het
Plcg2 T C 8: 117,557,329 W122R probably damaging Het
Ptbp1 T A 10: 79,859,962 probably benign Het
Ptpre T A 7: 135,670,764 D402E probably damaging Het
Siglec1 T C 2: 131,074,502 N1176S probably benign Het
Son A G 16: 91,659,458 T1698A probably benign Het
Speer2 C T 16: 69,861,651 W42* probably null Het
Taf5 T C 19: 47,075,082 V357A probably benign Het
Tctn1 A G 5: 122,264,207 S55P probably benign Het
Tmem115 T A 9: 107,534,582 L35Q probably damaging Het
Tmem30c T A 16: 57,276,117 probably benign Het
Tmprss7 T C 16: 45,660,789 D678G probably damaging Het
Ugt1a7c A T 1: 88,095,245 Q42L probably damaging Het
Unc13b T A 4: 43,258,492 V4099E probably damaging Het
Usp36 G A 11: 118,285,960 L11F probably damaging Het
Zfp955a T A 17: 33,242,580 K193* probably null Het
Zranb2 T C 3: 157,546,691 probably benign Het
Other mutations in Prpf19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01395:Prpf19 APN 19 10901011 missense probably damaging 0.98
IGL02111:Prpf19 APN 19 10905094 missense probably benign
IGL02163:Prpf19 APN 19 10902436 missense probably benign 0.07
IGL02653:Prpf19 APN 19 10902964 splice site probably benign
bojan UTSW 19 10897790 intron probably benign
R0179:Prpf19 UTSW 19 10897808 splice site probably benign
R1503:Prpf19 UTSW 19 10901022 missense possibly damaging 0.65
R1856:Prpf19 UTSW 19 10902416 missense probably damaging 0.96
R2229:Prpf19 UTSW 19 10897598 missense probably benign 0.02
R4755:Prpf19 UTSW 19 10897790 intron probably benign
R4882:Prpf19 UTSW 19 10898959 intron probably benign
R4972:Prpf19 UTSW 19 10899345 intron probably benign
R5110:Prpf19 UTSW 19 10899287 splice site probably benign
Posted On2013-06-21