Incidental Mutation 'IGL02256:Prpf4b'
ID286597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prpf4b
Ensembl Gene ENSMUSG00000021413
Gene Namepre-mRNA processing factor 4B
SynonymsPrp4, Prp4k, Prpk
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02256
Quality Score
Status
Chromosome13
Chromosomal Location34875302-34906064 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 34899878 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 877 (C877S)
Ref Sequence ENSEMBL: ENSMUSP00000152654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077853] [ENSMUST00000222509]
Predicted Effect probably damaging
Transcript: ENSMUST00000077853
AA Change: C877S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: C877S

DomainStartEndE-ValueType
low complexity region 40 62 N/A INTRINSIC
low complexity region 68 80 N/A INTRINSIC
coiled coil region 102 123 N/A INTRINSIC
low complexity region 142 150 N/A INTRINSIC
low complexity region 156 170 N/A INTRINSIC
low complexity region 178 197 N/A INTRINSIC
low complexity region 210 233 N/A INTRINSIC
low complexity region 238 249 N/A INTRINSIC
low complexity region 284 294 N/A INTRINSIC
low complexity region 299 324 N/A INTRINSIC
low complexity region 340 360 N/A INTRINSIC
low complexity region 390 417 N/A INTRINSIC
low complexity region 435 497 N/A INTRINSIC
low complexity region 521 535 N/A INTRINSIC
low complexity region 562 581 N/A INTRINSIC
S_TKc 687 1003 4.99e-74 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220965
Predicted Effect probably benign
Transcript: ENSMUST00000221077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221784
Predicted Effect probably damaging
Transcript: ENSMUST00000222509
AA Change: C877S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223228
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pre-mRNA splicing occurs in two sequential transesterification steps, and the protein encoded by this gene is thought to be involved in pre-mRNA splicing and in signal transduction. This protein belongs to a kinase family that includes serine/arginine-rich protein-specific kinases and cyclin-dependent kinases (CDKs). This protein is regarded as a CDK-like kinase (Clk) with homology to mitogen-activated protein kinases (MAPKs). [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambra1 T A 2: 91,769,054 V173E possibly damaging Het
BC005561 T A 5: 104,520,283 Y890* probably null Het
BC037034 C A 5: 138,260,315 D557Y probably damaging Het
Dennd4c A G 4: 86,799,541 T592A probably damaging Het
Dhcr24 G A 4: 106,572,320 G197S probably damaging Het
Fat1 A G 8: 44,950,332 Y40C probably damaging Het
Fbxl17 A C 17: 63,499,090 C310G probably benign Het
Hdac10 T C 15: 89,125,894 probably benign Het
Hist1h2bg G T 13: 23,571,435 M1I probably null Het
Mcm6 A G 1: 128,335,728 probably null Het
Mrpl19 G A 6: 81,964,319 T87I probably benign Het
Mzf1 A G 7: 13,052,737 probably benign Het
Nhlrc2 A G 19: 56,597,361 E676G probably benign Het
Notch3 T C 17: 32,132,324 D1899G probably damaging Het
Nxph1 A G 6: 9,247,185 D52G probably benign Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr171 T C 16: 19,625,006 I31M probably benign Het
Olfr418 A T 1: 173,270,627 I151F probably benign Het
Olfr913 G A 9: 38,594,544 V108I probably benign Het
Olfr918 A T 9: 38,673,480 M1K probably null Het
Olfr980 A G 9: 40,006,053 F299L probably benign Het
Pax6 T C 2: 105,684,770 V54A probably benign Het
Pbx1 A T 1: 168,183,602 H376Q possibly damaging Het
Robo3 A G 9: 37,425,353 L373P probably damaging Het
Samd9l G A 6: 3,376,197 R355W probably damaging Het
Smarce1 A T 11: 99,219,380 N127K possibly damaging Het
Sptbn1 T C 11: 30,120,990 I1511V probably benign Het
Stab1 C T 14: 31,141,592 R2071H probably damaging Het
Svep1 A T 4: 58,070,311 C2492S possibly damaging Het
Tbr1 C A 2: 61,804,874 T56N probably damaging Het
Tlr6 T C 5: 64,954,944 T207A probably benign Het
Tmem241 A G 18: 12,113,432 W54R probably damaging Het
Tmem87a A G 2: 120,377,896 V326A probably damaging Het
Uroc1 A G 6: 90,346,687 D372G possibly damaging Het
Zc3h7a A C 16: 11,147,276 S664R probably benign Het
Other mutations in Prpf4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Prpf4b APN 13 34883907 missense probably benign 0.23
IGL00639:Prpf4b APN 13 34899173 missense possibly damaging 0.70
IGL00901:Prpf4b APN 13 34894482 missense probably damaging 1.00
IGL01301:Prpf4b APN 13 34884291 missense probably benign 0.23
IGL02027:Prpf4b APN 13 34889571 missense probably benign 0.35
IGL02111:Prpf4b APN 13 34883961 missense probably benign 0.23
IGL02590:Prpf4b APN 13 34888146 unclassified probably benign
IGL03389:Prpf4b APN 13 34900456 splice site probably benign
IGL03411:Prpf4b APN 13 34895359 missense probably damaging 1.00
ANU18:Prpf4b UTSW 13 34884291 missense probably benign 0.23
PIT4260001:Prpf4b UTSW 13 34884291 missense probably benign 0.23
PIT4696001:Prpf4b UTSW 13 34899842 missense probably benign 0.01
R0114:Prpf4b UTSW 13 34890488 splice site probably benign
R0157:Prpf4b UTSW 13 34884031 unclassified probably benign
R1551:Prpf4b UTSW 13 34894443 missense possibly damaging 0.91
R1587:Prpf4b UTSW 13 34892150 missense probably benign 0.09
R2105:Prpf4b UTSW 13 34884231 unclassified probably benign
R2152:Prpf4b UTSW 13 34900419 missense probably benign 0.04
R2432:Prpf4b UTSW 13 34883341 unclassified probably benign
R3802:Prpf4b UTSW 13 34883682 unclassified probably benign
R3803:Prpf4b UTSW 13 34883682 unclassified probably benign
R3804:Prpf4b UTSW 13 34883682 unclassified probably benign
R3982:Prpf4b UTSW 13 34884213 unclassified probably benign
R4603:Prpf4b UTSW 13 34888164 unclassified probably benign
R4633:Prpf4b UTSW 13 34900442 missense probably damaging 1.00
R4649:Prpf4b UTSW 13 34899971 missense probably benign 0.06
R4651:Prpf4b UTSW 13 34899971 missense probably benign 0.06
R4653:Prpf4b UTSW 13 34899971 missense probably benign 0.06
R5022:Prpf4b UTSW 13 34883599 unclassified probably benign
R5028:Prpf4b UTSW 13 34899975 missense probably damaging 1.00
R5232:Prpf4b UTSW 13 34883590 unclassified probably benign
R5313:Prpf4b UTSW 13 34894549 missense probably damaging 1.00
R5440:Prpf4b UTSW 13 34884093 unclassified probably benign
R5511:Prpf4b UTSW 13 34884054 unclassified probably benign
R5863:Prpf4b UTSW 13 34899128 missense possibly damaging 0.51
R5981:Prpf4b UTSW 13 34886710 missense probably benign 0.23
R6360:Prpf4b UTSW 13 34901433 missense probably damaging 0.99
R6398:Prpf4b UTSW 13 34900371 missense probably damaging 1.00
R6556:Prpf4b UTSW 13 34896032 missense probably damaging 0.98
R6880:Prpf4b UTSW 13 34894453 missense possibly damaging 0.69
R7133:Prpf4b UTSW 13 34901494 missense probably benign 0.02
R7148:Prpf4b UTSW 13 34894472 missense probably benign 0.04
R7208:Prpf4b UTSW 13 34884011 missense unknown
Posted On2015-04-16