Incidental Mutation 'IGL03411:Prpf4b'
ID421783
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 #IGL03411
Quality Score
Status
Chromosome13
Chromosomal Location34875302-34906064 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 34895359 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 739 (L739F)
Ref Sequence ENSEMBL: ENSMUSP00000152654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077853] [ENSMUST00000222509]
Predicted Effect probably damaging
Transcript: ENSMUST00000077853
AA Change: L739F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: L739F

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 unknown
Transcript: ENSMUST00000220965
AA Change: L242F
Predicted Effect probably benign
Transcript: ENSMUST00000221077
Predicted Effect probably damaging
Transcript: ENSMUST00000222509
AA Change: L739F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,399,560 I305T probably damaging Het
Adamts18 G A 8: 113,764,297 Q513* probably null Het
Adamts6 A G 13: 104,314,334 I342V possibly damaging Het
Agtr1a A G 13: 30,381,599 T216A possibly damaging Het
Coro1b A G 19: 4,150,226 probably benign Het
Cyp4a10 G A 4: 115,525,693 probably null Het
Cyp4x1 T A 4: 115,108,785 Q448L probably benign Het
Ddx60 A T 8: 61,977,882 probably null Het
Exoc1 C A 5: 76,542,195 A194D probably damaging Het
Fastkd1 A C 2: 69,707,359 V293G probably damaging Het
Gm5773 T C 3: 93,773,957 L312P probably damaging Het
Hhla1 A G 15: 65,930,229 probably null Het
Hmcn2 A T 2: 31,346,637 E397D possibly damaging Het
Lig1 C T 7: 13,296,768 R449C probably damaging Het
Mdc1 A G 17: 35,853,126 T1189A probably benign Het
Muc4 G A 16: 32,754,318 M1397I probably benign Het
Myh15 A G 16: 49,159,967 E1484G possibly damaging Het
Neb T C 2: 52,292,878 I1019V probably benign Het
Nid1 T C 13: 13,437,889 L63P probably damaging Het
Ogfod3 A T 11: 121,177,804 *316R probably null Het
Olfr5 T C 7: 6,480,436 K240R probably benign Het
Pdpk1 A T 17: 24,101,644 V193E probably damaging Het
Phf3 G T 1: 30,804,401 P1826T probably damaging Het
Pnliprp2 A G 19: 58,760,415 I51V probably benign Het
Rcbtb1 T A 14: 59,209,970 M1K probably null Het
Rin2 A G 2: 145,860,944 E520G probably damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Shpk A G 11: 73,215,035 T238A probably benign Het
Tmem132d A T 5: 127,984,283 Y418* probably null Het
Tpte T C 8: 22,325,537 V212A possibly damaging Het
Trim55 A T 3: 19,659,190 Y135F probably damaging Het
Ttn C T 2: 76,768,112 A19486T probably damaging Het
Vmn2r59 A T 7: 42,058,916 N22K probably benign Het
Vmn2r63 T C 7: 42,927,944 D390G probably benign Het
Vmn2r96 A G 17: 18,586,372 E527G possibly damaging Het
Vps13d C T 4: 145,149,324 E1538K probably damaging Het
Zfp64 T C 2: 168,951,542 probably null Het
Zfp827 A G 8: 79,076,487 S563G probably damaging 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
IGL02256:Prpf4b APN 13 34899878 missense probably damaging 0.98
IGL02590:Prpf4b APN 13 34888146 unclassified probably benign
IGL03389:Prpf4b APN 13 34900456 splice site probably benign
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 On2016-08-02