Incidental Mutation 'IGL03278:Pkmyt1'
ID 415501
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkmyt1
Ensembl Gene ENSMUSG00000023908
Gene Name protein kinase, membrane associated tyrosine/threonine 1
Synonyms Myt1
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # IGL03278
Quality Score
Status
Chromosome 17
Chromosomal Location 23945385-23955709 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23953221 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9ESG9
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 71,205,599 (GRCm39) probably benign Het
Acss2 A G 2: 155,403,921 (GRCm39) D676G possibly damaging Het
Antxr1 A G 6: 87,181,439 (GRCm39) probably benign Het
Ccdc134 C T 15: 82,015,682 (GRCm39) A54V possibly damaging Het
Ccdc40 A T 11: 119,133,336 (GRCm39) I465F probably damaging Het
Cdk5rap1 A T 2: 154,212,622 (GRCm39) S79T probably benign Het
Col6a6 T C 9: 105,586,651 (GRCm39) E1790G probably benign Het
Cops8 C A 1: 90,532,087 (GRCm39) probably null Het
Dnah7a T C 1: 53,536,124 (GRCm39) T2640A probably benign Het
F2 G A 2: 91,465,527 (GRCm39) A86V probably benign Het
Fhip1b C A 7: 105,034,331 (GRCm39) M433I possibly damaging Het
Gabrb1 T G 5: 72,026,939 (GRCm39) D113E probably damaging Het
Git2 C A 5: 114,883,640 (GRCm39) probably benign Het
Git2 A T 5: 114,883,641 (GRCm39) probably null Het
Gm4847 A T 1: 166,462,605 (GRCm39) I295N probably benign Het
H2-M10.6 C A 17: 37,124,715 (GRCm39) H211N probably damaging Het
Hmgcr A G 13: 96,793,270 (GRCm39) probably benign Het
Larp1 T C 11: 57,934,882 (GRCm39) probably benign Het
Lrguk A G 6: 34,093,381 (GRCm39) E634G possibly damaging Het
Nanog A G 6: 122,688,704 (GRCm39) Y95C probably damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Nfe2l1 C A 11: 96,713,018 (GRCm39) R55L probably benign Het
Or1f19 C T 16: 3,410,971 (GRCm39) A237V possibly damaging Het
Pld4 A G 12: 112,733,165 (GRCm39) N247S probably damaging Het
Prdm4 A T 10: 85,743,622 (GRCm39) M211K probably damaging Het
Rab37 A C 11: 115,050,517 (GRCm39) I121L possibly damaging Het
Rabl6 T C 2: 25,473,834 (GRCm39) probably benign Het
Slc34a3 A T 2: 25,122,059 (GRCm39) V154E probably benign Het
Slc38a9 T G 13: 112,826,052 (GRCm39) probably benign Het
Sptlc3 G A 2: 139,431,579 (GRCm39) G367D probably damaging Het
Stk24 T C 14: 121,540,182 (GRCm39) K139R possibly damaging Het
Tacc2 T C 7: 130,335,298 (GRCm39) probably null Het
Tap1 A T 17: 34,410,457 (GRCm39) K378M probably damaging Het
Tfr2 A T 5: 137,569,298 (GRCm39) R10* probably null Het
Trim38 A G 13: 23,974,979 (GRCm39) D306G possibly damaging Het
Ttc6 A T 12: 57,668,812 (GRCm39) K418I probably damaging Het
Ush2a T A 1: 188,581,313 (GRCm39) L3731Q probably damaging Het
Vmn2r89 A T 14: 51,692,557 (GRCm39) Y120F probably damaging Het
Vps35 A T 8: 86,021,590 (GRCm39) probably benign Het
Other mutations in Pkmyt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3977:Pkmyt1 UTSW 17 23,954,305 (GRCm39) missense probably benign
R4329:Pkmyt1 UTSW 17 23,951,709 (GRCm39) missense probably damaging 1.00
R5215:Pkmyt1 UTSW 17 23,951,566 (GRCm39) missense probably benign 0.02
R5992:Pkmyt1 UTSW 17 23,954,300 (GRCm39) missense probably benign 0.19
R6192:Pkmyt1 UTSW 17 23,953,167 (GRCm39) missense probably damaging 1.00
R6279:Pkmyt1 UTSW 17 23,951,476 (GRCm39) missense probably benign 0.03
R6344:Pkmyt1 UTSW 17 23,951,730 (GRCm39) missense possibly damaging 0.82
R6358:Pkmyt1 UTSW 17 23,952,630 (GRCm39) splice site probably null
R7096:Pkmyt1 UTSW 17 23,953,087 (GRCm39) missense probably damaging 1.00
R8174:Pkmyt1 UTSW 17 23,952,813 (GRCm39) missense probably damaging 1.00
R8257:Pkmyt1 UTSW 17 23,953,148 (GRCm39) missense probably benign 0.00
R8391:Pkmyt1 UTSW 17 23,954,013 (GRCm39) missense probably damaging 1.00
R9532:Pkmyt1 UTSW 17 23,954,691 (GRCm39) missense probably benign
X0020:Pkmyt1 UTSW 17 23,951,734 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02