Incidental Mutation 'IGL00470:Pxk'
ID13235
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pxk
Ensembl Gene ENSMUSG00000033885
Gene NamePX domain containing serine/threonine kinase
SynonymsMONaKA, D14Ertd813e, C230080L11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.232) question?
Stock #IGL00470
Quality Score
Status
Chromosome14
Chromosomal Location8098211-8165117 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8130754 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 118 (F118L)
Ref Sequence ENSEMBL: ENSMUSP00000035265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036682] [ENSMUST00000112689] [ENSMUST00000225653]
Predicted Effect probably damaging
Transcript: ENSMUST00000036682
AA Change: F118L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035265
Gene: ENSMUSG00000033885
AA Change: F118L

DomainStartEndE-ValueType
PX 17 122 1.62e-16 SMART
Pfam:Pkinase 183 441 1.1e-9 PFAM
Pfam:Pkinase_Tyr 185 309 2.5e-7 PFAM
low complexity region 483 536 N/A INTRINSIC
Pfam:WH2 549 577 1.8e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112689
AA Change: F118L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108309
Gene: ENSMUSG00000033885
AA Change: F118L

DomainStartEndE-ValueType
PX 17 122 1.62e-16 SMART
Pfam:Pkinase_Tyr 185 309 3e-7 PFAM
Pfam:Pkinase 185 441 1.4e-10 PFAM
low complexity region 483 509 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225616
Predicted Effect probably damaging
Transcript: ENSMUST00000225653
AA Change: F118L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
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 phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik A T 14: 49,773,003 S416T probably damaging Het
4732463B04Rik G T 12: 84,043,804 probably benign Het
4921501E09Rik T A 17: 33,065,863 H655L probably benign Het
Abcd1 T C X: 73,717,548 L173P probably damaging Het
Adam18 T A 8: 24,628,133 D41V probably damaging Het
Aspa T G 11: 73,313,621 probably benign Het
C530008M17Rik G A 5: 76,866,056 probably benign Het
Cacna2d1 T A 5: 16,246,656 probably benign Het
Cubn T A 2: 13,278,418 I3570L probably benign Het
Cyp2j13 G A 4: 96,062,038 P242L probably damaging Het
Cysrt1 T C 2: 25,239,501 probably benign Het
Dchs1 A T 7: 105,758,207 L2100H probably damaging Het
Ddb1 G A 19: 10,611,664 A229T possibly damaging Het
Dst A T 1: 34,188,962 I1554F probably damaging Het
Dvl3 C T 16: 20,530,939 P554L probably damaging Het
Fcgbp C A 7: 28,075,086 C28* probably null Het
Gm773 T C X: 56,202,013 D53G probably benign Het
Hhat A G 1: 192,717,017 Y272H probably damaging Het
Inpp5k T C 11: 75,645,525 S310P probably benign Het
Kat2a G A 11: 100,705,384 R782W probably damaging Het
Kcnh5 T C 12: 74,897,796 D893G probably benign Het
Lama2 T C 10: 27,243,742 T709A probably benign Het
Mcm8 G A 2: 132,827,537 V281I probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Nup133 T G 8: 123,939,083 D201A probably damaging Het
Oxct2a A G 4: 123,323,390 L66P possibly damaging Het
Pcbp2 C T 15: 102,490,713 A224V probably damaging Het
Pla2g4e G A 2: 120,185,238 S275F probably benign Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Sphkap A G 1: 83,277,910 M706T possibly damaging Het
Tarsl2 T C 7: 65,688,908 M689T probably benign Het
Trrap T C 5: 144,818,038 V2008A probably damaging Het
Txndc2 A T 17: 65,638,574 S203T probably benign Het
Txnrd1 T G 10: 82,875,662 D42E probably damaging Het
Zswim8 G A 14: 20,723,181 D1746N probably damaging Het
Other mutations in Pxk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01865:Pxk APN 14 8136923 missense possibly damaging 0.94
IGL03171:Pxk APN 14 8151014 splice site probably benign
PIT4131001:Pxk UTSW 14 8152130 missense probably benign 0.01
R0799:Pxk UTSW 14 8148123 missense probably benign 0.02
R1367:Pxk UTSW 14 8150915 splice site probably null
R1546:Pxk UTSW 14 8164091 missense probably damaging 1.00
R1800:Pxk UTSW 14 8151507 nonsense probably null
R1827:Pxk UTSW 14 8151507 nonsense probably null
R1828:Pxk UTSW 14 8151507 nonsense probably null
R1888:Pxk UTSW 14 8151540 missense probably damaging 1.00
R1888:Pxk UTSW 14 8151540 missense probably damaging 1.00
R1892:Pxk UTSW 14 8151507 nonsense probably null
R1893:Pxk UTSW 14 8151507 nonsense probably null
R3766:Pxk UTSW 14 8136863 splice site probably benign
R4807:Pxk UTSW 14 8144133 missense probably damaging 1.00
R4816:Pxk UTSW 14 8136893 missense probably damaging 1.00
R4833:Pxk UTSW 14 8130653 missense probably damaging 1.00
R4974:Pxk UTSW 14 8140734 missense probably damaging 1.00
R5400:Pxk UTSW 14 8136911 missense probably benign 0.45
R6075:Pxk UTSW 14 8150964 missense probably benign 0.05
R6144:Pxk UTSW 14 8138011 missense probably damaging 0.99
R6211:Pxk UTSW 14 8163952 missense probably damaging 0.96
Posted On2012-12-06