Incidental Mutation 'IGL00858:Pbk'
ID12915
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pbk
Ensembl Gene ENSMUSG00000022033
Gene NamePDZ binding kinase
Synonyms2810434B10Rik, TOPK, D14Ertd732e
Accession Numbers

Genbank: NM_023209; MGI: 1289156

Is this an essential gene? Possibly non essential (E-score: 0.312) question?
Stock #IGL00858
Quality Score
Status
Chromosome14
Chromosomal Location65805837-65817822 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 65811924 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022612] [ENSMUST00000139644]
Predicted Effect probably benign
Transcript: ENSMUST00000022612
SMART Domains Protein: ENSMUSP00000022612
Gene: ENSMUSG00000022033

DomainStartEndE-ValueType
Pfam:Pkinase 32 317 1.7e-40 PFAM
Pfam:Pkinase_Tyr 32 317 2.4e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139644
SMART Domains Protein: ENSMUSP00000114484
Gene: ENSMUSG00000022033

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 32 119 3.5e-5 PFAM
Pfam:Pkinase 32 120 7.2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152130
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase related to the dual specific mitogen-activated protein kinase kinase (MAPKK) family. Evidence suggests that mitotic phosphorylation is required for its catalytic activity. The encoded protein may be involved in the activation of lymphoid cells and support testicular functions, with a suggested role in the process of spermatogenesis. Overexpression of this gene has been implicated in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased UV-induced loss of the horny layer, epidermis thickening, skin fibrosis, and deposition of extracellular matrix in the skin. [provided by MGI curators]
Allele List at MGI

All alleles(14) : Gene trapped(14)

Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 122,173,888 V988M probably damaging Het
Afap1l1 G A 18: 61,736,854 T635M probably benign Het
B4galnt1 A G 10: 127,167,764 T199A probably benign Het
Ccdc105 T C 10: 78,750,569 D216G probably damaging Het
Ccdc183 T A 2: 25,609,771 M378L probably benign Het
Ccser1 C A 6: 61,810,665 S134* probably null Het
Cluh A G 11: 74,659,605 K248E possibly damaging Het
Cpa6 T A 1: 10,483,994 R129S probably damaging Het
Cyp2c29 T A 19: 39,307,656 V138D probably damaging Het
Cyp4f14 A G 17: 32,911,718 probably benign Het
Dock10 T C 1: 80,568,003 N841S possibly damaging Het
Dtwd2 A T 18: 49,728,385 I98N probably damaging Het
Fut10 G T 8: 31,235,705 V163F probably damaging Het
Ifi44 T A 3: 151,749,580 M3L probably benign Het
Mtch1 C T 17: 29,340,456 D74N probably damaging Het
Nav3 A G 10: 109,742,632 V1588A probably damaging Het
Ptcd1 A T 5: 145,151,282 probably benign Het
Rapgef4 A T 2: 72,198,897 I438F probably damaging Het
Tas2r113 C A 6: 132,893,152 R48S probably benign Het
Tnn C T 1: 160,088,392 probably null Het
Tnnt2 G A 1: 135,851,702 V277I probably damaging Het
Twnk G T 19: 45,007,626 W166L probably benign Het
Utp20 G A 10: 88,809,125 L580F possibly damaging Het
Utp20 T A 10: 88,809,138 E575D probably benign Het
Other mutations in Pbk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Pbk APN 14 65813891 missense probably damaging 1.00
IGL01472:Pbk APN 14 65816710 missense probably benign 0.06
IGL03239:Pbk APN 14 65817218 missense probably benign 0.22
A5278:Pbk UTSW 14 65813939 missense probably damaging 1.00
R0067:Pbk UTSW 14 65815226 missense possibly damaging 0.90
R0645:Pbk UTSW 14 65813796 splice site probably benign
R4696:Pbk UTSW 14 65811937 missense probably benign 0.00
R4834:Pbk UTSW 14 65815284 nonsense probably null
R4856:Pbk UTSW 14 65815201 missense probably damaging 1.00
R4886:Pbk UTSW 14 65815201 missense probably damaging 1.00
R6006:Pbk UTSW 14 65816645 missense probably damaging 0.97
R6086:Pbk UTSW 14 65815253 nonsense probably null
R7272:Pbk UTSW 14 65815172 missense probably damaging 1.00
Z1088:Pbk UTSW 14 65813948 missense probably damaging 1.00
Posted On2012-12-06