Incidental Mutation 'IGL03278:Pkmyt1'
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Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkmyt1
Ensembl Gene ENSMUSG00000023908
Gene Nameprotein kinase, membrane associated tyrosine/threonine 1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.948) question?
Stock #IGL03278
Quality Score
Chromosomal Location23726336-23736729 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23734247 bp
Amino Acid Change Glutamic Acid to Glycine at position 259 (E259G)
Ref Sequence ENSEMBL: ENSMUSP00000024701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024701] [ENSMUST00000024702]
Predicted Effect probably damaging
Transcript: ENSMUST00000024701
AA Change: E259G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024701
Gene: ENSMUSG00000023908
AA Change: E259G

Pfam:Pkinase_Tyr 101 347 3.4e-22 PFAM
Pfam:Pkinase 101 350 1.2e-47 PFAM
Pfam:Kinase-like 205 334 6.8e-11 PFAM
low complexity region 397 412 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000024702
SMART Domains Protein: ENSMUSP00000024702
Gene: ENSMUSG00000023909

Pfam:HlyIII 43 254 1e-26 PFAM
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 member of the serine/threonine protein kinase family. The encoded protein is a membrane-associated kinase that negatively regulates the G2/M transition of the cell cycle by phosphorylating and inactivating cyclin-dependent kinase 1. The activity of the encoded protein is regulated by polo-like kinase 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,158,825 probably benign Het
Acss2 A G 2: 155,562,001 D676G possibly damaging Het
Antxr1 A G 6: 87,204,457 probably benign Het
Ccdc134 C T 15: 82,131,481 A54V possibly damaging Het
Ccdc40 A T 11: 119,242,510 I465F probably damaging Het
Cdk5rap1 A T 2: 154,370,702 S79T probably benign Het
Col6a6 T C 9: 105,709,452 E1790G probably benign Het
Cops8 C A 1: 90,604,365 probably null Het
Dnah7a T C 1: 53,496,965 T2640A probably benign Het
F2 G A 2: 91,635,182 A86V probably benign Het
Fam160a2 C A 7: 105,385,124 M433I possibly damaging Het
Gabrb1 T G 5: 71,869,596 D113E probably damaging Het
Git2 C A 5: 114,745,579 probably benign Het
Git2 A T 5: 114,745,580 probably null Het
Gm4847 A T 1: 166,635,036 I295N probably benign Het
H2-M10.6 C A 17: 36,813,823 H211N probably damaging Het
Hmgcr A G 13: 96,656,762 probably benign Het
Larp1 T C 11: 58,044,056 probably benign Het
Lrguk A G 6: 34,116,446 E634G possibly damaging Het
Nanog A G 6: 122,711,745 Y95C probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nfe2l1 C A 11: 96,822,192 R55L probably benign Het
Olfr161 C T 16: 3,593,107 A237V possibly damaging Het
Pld4 A G 12: 112,766,731 N247S probably damaging Het
Prdm4 A T 10: 85,907,758 M211K probably damaging Het
Rab37 A C 11: 115,159,691 I121L possibly damaging Het
Rabl6 T C 2: 25,583,822 probably benign Het
Slc34a3 A T 2: 25,232,047 V154E probably benign Het
Slc38a9 T G 13: 112,689,518 probably benign Het
Sptlc3 G A 2: 139,589,659 G367D probably damaging Het
Stk24 T C 14: 121,302,770 K139R possibly damaging Het
Tacc2 T C 7: 130,733,568 probably null Het
Tap1 A T 17: 34,191,483 K378M probably damaging Het
Tfr2 A T 5: 137,571,036 R10* probably null Het
Trim38 A G 13: 23,790,996 D306G possibly damaging Het
Ttc6 A T 12: 57,622,026 K418I probably damaging Het
Ush2a T A 1: 188,849,116 L3731Q probably damaging Het
Vmn2r89 A T 14: 51,455,100 Y120F probably damaging Het
Vps35 A T 8: 85,294,961 probably benign Het
Other mutations in Pkmyt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3977:Pkmyt1 UTSW 17 23735331 missense probably benign
R4329:Pkmyt1 UTSW 17 23732735 missense probably damaging 1.00
R5215:Pkmyt1 UTSW 17 23732592 missense probably benign 0.02
R5992:Pkmyt1 UTSW 17 23735326 missense probably benign 0.19
R6192:Pkmyt1 UTSW 17 23734193 missense probably damaging 1.00
R6279:Pkmyt1 UTSW 17 23732502 missense probably benign 0.03
R6344:Pkmyt1 UTSW 17 23732756 missense possibly damaging 0.82
R6358:Pkmyt1 UTSW 17 23733656 splice site probably null
R7096:Pkmyt1 UTSW 17 23734113 missense probably damaging 1.00
R8174:Pkmyt1 UTSW 17 23733839 missense probably damaging 1.00
R8257:Pkmyt1 UTSW 17 23734174 missense probably benign 0.00
R8391:Pkmyt1 UTSW 17 23735039 missense probably damaging 1.00
X0020:Pkmyt1 UTSW 17 23732760 missense probably damaging 1.00
Posted On2016-08-02