Incidental Mutation 'IGL03389:Prpf4b'
ID 421006
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prpf4b
Ensembl Gene ENSMUSG00000021413
Gene Name pre-mRNA processing factor 4B
Synonyms Prpk, Prp4k, Prp4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03389
Quality Score
Status
Chromosome 13
Chromosomal Location 35059285-35090047 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 35084439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077853] [ENSMUST00000222509]
AlphaFold Q61136
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: ENSMUST00000223228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222834
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: 38,249,430 (GRCm39) V559E possibly damaging Het
Alpk2 G T 18: 65,437,937 (GRCm39) P1619Q possibly damaging Het
Amz1 C A 5: 140,737,782 (GRCm39) F347L probably benign Het
Ank1 T C 8: 23,578,076 (GRCm39) probably null Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Cdc16 A G 8: 13,809,179 (GRCm39) Y48C probably damaging Het
Cfap91 C T 16: 38,144,498 (GRCm39) probably null Het
Cul2 A G 18: 3,431,029 (GRCm39) D538G probably benign Het
Cyp2j13 T A 4: 95,956,558 (GRCm39) I184F probably damaging Het
Cyp4a12b A T 4: 115,291,005 (GRCm39) R344S possibly damaging Het
Dis3 A G 14: 99,332,783 (GRCm39) probably benign Het
Dnah17 T C 11: 117,985,805 (GRCm39) H1424R probably damaging Het
Eef2 A G 10: 81,015,540 (GRCm39) I354V probably benign Het
Elmo1 A G 13: 20,526,596 (GRCm39) D382G probably damaging Het
Epas1 T A 17: 87,131,131 (GRCm39) S304T probably benign Het
Fry A T 5: 150,317,696 (GRCm39) D892V probably damaging Het
Gprc5a G T 6: 135,060,823 (GRCm39) D355Y possibly damaging Het
Hsd17b7 G A 1: 169,787,320 (GRCm39) T228I probably damaging Het
Ift74 T C 4: 94,510,149 (GRCm39) V60A possibly damaging Het
Insrr A T 3: 87,716,038 (GRCm39) I578F probably damaging Het
Izumo1 T C 7: 45,273,613 (GRCm39) F122S probably damaging Het
Lss G A 10: 76,372,173 (GRCm39) R176H probably damaging Het
Ltb T C 17: 35,414,044 (GRCm39) S61P probably benign Het
Mybphl T C 3: 108,283,034 (GRCm39) V274A probably benign Het
Myo9a T G 9: 59,776,890 (GRCm39) L1096W probably damaging Het
Nlrc5 T A 8: 95,248,102 (GRCm39) L1690H probably damaging Het
Nrap A T 19: 56,340,148 (GRCm39) S790T probably benign Het
Nrcam A G 12: 44,596,689 (GRCm39) D308G probably benign Het
Or10a3 G A 7: 108,479,982 (GRCm39) T277M probably damaging Het
Or1j17 A G 2: 36,578,274 (GRCm39) T87A probably benign Het
Pias2 A G 18: 77,185,354 (GRCm39) D138G probably damaging Het
Rapgef3 A G 15: 97,647,397 (GRCm39) S788P probably damaging Het
Slc5a6 T C 5: 31,194,821 (GRCm39) Y525C probably damaging Het
Snx32 T C 19: 5,546,082 (GRCm39) probably benign Het
Tnfaip3 T C 10: 18,880,735 (GRCm39) E444G probably benign Het
Ttc27 T C 17: 75,165,028 (GRCm39) Y745H probably benign Het
Other mutations in Prpf4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Prpf4b APN 13 35,067,890 (GRCm39) missense probably benign 0.23
IGL00639:Prpf4b APN 13 35,083,156 (GRCm39) missense possibly damaging 0.70
IGL00901:Prpf4b APN 13 35,078,465 (GRCm39) missense probably damaging 1.00
IGL01301:Prpf4b APN 13 35,068,274 (GRCm39) missense probably benign 0.23
IGL02027:Prpf4b APN 13 35,073,554 (GRCm39) missense probably benign 0.35
IGL02111:Prpf4b APN 13 35,067,944 (GRCm39) missense probably benign 0.23
IGL02256:Prpf4b APN 13 35,083,861 (GRCm39) missense probably damaging 0.98
IGL02590:Prpf4b APN 13 35,072,129 (GRCm39) unclassified probably benign
IGL03411:Prpf4b APN 13 35,079,342 (GRCm39) missense probably damaging 1.00
ANU18:Prpf4b UTSW 13 35,068,274 (GRCm39) missense probably benign 0.23
PIT4260001:Prpf4b UTSW 13 35,068,274 (GRCm39) missense probably benign 0.23
PIT4696001:Prpf4b UTSW 13 35,083,825 (GRCm39) missense probably benign 0.01
R0114:Prpf4b UTSW 13 35,074,471 (GRCm39) splice site probably benign
R0157:Prpf4b UTSW 13 35,068,014 (GRCm39) unclassified probably benign
R1551:Prpf4b UTSW 13 35,078,426 (GRCm39) missense possibly damaging 0.91
R1587:Prpf4b UTSW 13 35,076,133 (GRCm39) missense probably benign 0.09
R2105:Prpf4b UTSW 13 35,068,214 (GRCm39) unclassified probably benign
R2152:Prpf4b UTSW 13 35,084,402 (GRCm39) missense probably benign 0.04
R2432:Prpf4b UTSW 13 35,067,324 (GRCm39) unclassified probably benign
R3802:Prpf4b UTSW 13 35,067,665 (GRCm39) unclassified probably benign
R3803:Prpf4b UTSW 13 35,067,665 (GRCm39) unclassified probably benign
R3804:Prpf4b UTSW 13 35,067,665 (GRCm39) unclassified probably benign
R3982:Prpf4b UTSW 13 35,068,196 (GRCm39) unclassified probably benign
R4603:Prpf4b UTSW 13 35,072,147 (GRCm39) unclassified probably benign
R4633:Prpf4b UTSW 13 35,084,425 (GRCm39) missense probably damaging 1.00
R4649:Prpf4b UTSW 13 35,083,954 (GRCm39) missense probably benign 0.06
R4651:Prpf4b UTSW 13 35,083,954 (GRCm39) missense probably benign 0.06
R4653:Prpf4b UTSW 13 35,083,954 (GRCm39) missense probably benign 0.06
R5022:Prpf4b UTSW 13 35,067,582 (GRCm39) unclassified probably benign
R5028:Prpf4b UTSW 13 35,083,958 (GRCm39) missense probably damaging 1.00
R5232:Prpf4b UTSW 13 35,067,573 (GRCm39) unclassified probably benign
R5313:Prpf4b UTSW 13 35,078,532 (GRCm39) missense probably damaging 1.00
R5440:Prpf4b UTSW 13 35,068,076 (GRCm39) unclassified probably benign
R5511:Prpf4b UTSW 13 35,068,037 (GRCm39) unclassified probably benign
R5863:Prpf4b UTSW 13 35,083,111 (GRCm39) missense possibly damaging 0.51
R5981:Prpf4b UTSW 13 35,070,693 (GRCm39) missense probably benign 0.23
R6360:Prpf4b UTSW 13 35,085,416 (GRCm39) missense probably damaging 0.99
R6398:Prpf4b UTSW 13 35,084,354 (GRCm39) missense probably damaging 1.00
R6556:Prpf4b UTSW 13 35,080,015 (GRCm39) missense probably damaging 0.98
R6880:Prpf4b UTSW 13 35,078,436 (GRCm39) missense possibly damaging 0.69
R7133:Prpf4b UTSW 13 35,085,477 (GRCm39) missense probably benign 0.02
R7148:Prpf4b UTSW 13 35,078,455 (GRCm39) missense probably benign 0.04
R7208:Prpf4b UTSW 13 35,067,994 (GRCm39) missense unknown
R7966:Prpf4b UTSW 13 35,085,428 (GRCm39) missense probably damaging 0.96
R8241:Prpf4b UTSW 13 35,079,974 (GRCm39) missense probably damaging 1.00
R8298:Prpf4b UTSW 13 35,072,166 (GRCm39) missense unknown
R9609:Prpf4b UTSW 13 35,068,032 (GRCm39) missense unknown
R9710:Prpf4b UTSW 13 35,083,870 (GRCm39) missense probably damaging 1.00
RF002:Prpf4b UTSW 13 35,068,219 (GRCm39) missense unknown
Posted On 2016-08-02