Incidental Mutation 'IGL03389:Prpf4b'
ID421006
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 #IGL03389
Quality Score
Status
Chromosome13
Chromosomal Location34875302-34906064 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 34900456 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077853] [ENSMUST00000222509]
Predicted Effect probably benign
Transcript: ENSMUST00000077853
SMART Domains Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413

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 benign
Transcript: ENSMUST00000222509
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 A T 1: 38,210,349 V559E possibly damaging Het
Alpk2 G T 18: 65,304,866 P1619Q possibly damaging Het
Amz1 C A 5: 140,752,027 F347L probably benign Het
Ank1 T C 8: 23,088,060 probably null Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Cdc16 A G 8: 13,759,179 Y48C probably damaging Het
Cul2 A G 18: 3,431,029 D538G probably benign Het
Cyp2j13 T A 4: 96,068,321 I184F probably damaging Het
Cyp4a12b A T 4: 115,433,808 R344S possibly damaging Het
Dis3 A G 14: 99,095,347 probably benign Het
Dnah17 T C 11: 118,094,979 H1424R probably damaging Het
Eef2 A G 10: 81,179,706 I354V probably benign Het
Elmo1 A G 13: 20,342,426 D382G probably damaging Het
Epas1 T A 17: 86,823,703 S304T probably benign Het
Fry A T 5: 150,394,231 D892V probably damaging Het
Gprc5a G T 6: 135,083,825 D355Y possibly damaging Het
Hsd17b7 G A 1: 169,959,751 T228I probably damaging Het
Ift74 T C 4: 94,621,912 V60A possibly damaging Het
Insrr A T 3: 87,808,731 I578F probably damaging Het
Izumo1 T C 7: 45,624,189 F122S probably damaging Het
Lss G A 10: 76,536,339 R176H probably damaging Het
Ltb T C 17: 35,195,068 S61P probably benign Het
Maats1 C T 16: 38,324,136 probably null Het
Mybphl T C 3: 108,375,718 V274A probably benign Het
Myo9a T G 9: 59,869,607 L1096W probably damaging Het
Nlrc5 T A 8: 94,521,474 L1690H probably damaging Het
Nrap A T 19: 56,351,716 S790T probably benign Het
Nrcam A G 12: 44,549,906 D308G probably benign Het
Olfr346 A G 2: 36,688,262 T87A probably benign Het
Olfr518 G A 7: 108,880,775 T277M probably damaging Het
Pias2 A G 18: 77,097,658 D138G probably damaging Het
Rapgef3 A G 15: 97,749,516 S788P probably damaging Het
Slc5a6 T C 5: 31,037,477 Y525C probably damaging Het
Snx32 T C 19: 5,496,054 probably benign Het
Tnfaip3 T C 10: 19,004,987 E444G probably benign Het
Ttc27 T C 17: 74,858,033 Y745H 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
IGL02256:Prpf4b APN 13 34899878 missense probably damaging 0.98
IGL02590:Prpf4b APN 13 34888146 unclassified 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
RF002:Prpf4b UTSW 13 34884236 missense unknown
Posted On2016-08-02