Incidental Mutation 'R8174:Pkmyt1'
ID 634253
Institutional Source Beutler Lab
Gene Symbol Pkmyt1
Ensembl Gene ENSMUSG00000023908
Gene Name protein kinase, membrane associated tyrosine/threonine 1
Synonyms Myt1
MMRRC Submission 067599-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R8174 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 23945385-23955709 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23952813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 123 (D123V)
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: D123V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024701
Gene: ENSMUSG00000023908
AA Change: D123V

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (40/40)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,378,617 (GRCm39) N2090S possibly damaging Het
Asxl3 T C 18: 22,650,800 (GRCm39) S930P probably benign Het
Cachd1 T A 4: 100,823,466 (GRCm39) I506N probably damaging Het
Calm1 G T 12: 100,171,967 (GRCm39) V140L probably benign Het
Cdsn A T 17: 35,866,529 (GRCm39) K353* probably null Het
Cldn11 T C 3: 31,208,210 (GRCm39) V125A probably benign Het
Ddx60 G A 8: 62,470,284 (GRCm39) probably null Het
Dlg2 A G 7: 91,589,248 (GRCm39) I216V probably benign Het
Dnah5 A G 15: 28,311,279 (GRCm39) probably null Het
Dnajc28 G A 16: 91,413,795 (GRCm39) R150* probably null Het
Erap1 A T 13: 74,794,683 (GRCm39) Y114F probably benign Het
Gm14443 G A 2: 175,011,468 (GRCm39) P326L probably damaging Het
Gm2042 T A 12: 87,926,928 (GRCm39) L415Q probably damaging Het
Gm8797 T C 3: 5,816,094 (GRCm39) I44T probably benign Het
Matn2 C A 15: 34,422,555 (GRCm39) F547L probably benign Het
Mpc2 T A 1: 165,308,458 (GRCm39) probably null Het
Or5b12b A G 19: 12,861,268 (GRCm39) T8A probably benign Het
Or7d10 A C 9: 19,832,020 (GRCm39) T172P probably damaging Het
Pcnx4 T A 12: 72,603,687 (GRCm39) L536Q probably damaging Het
Phlpp2 G A 8: 110,595,321 (GRCm39) R24H unknown Het
Polg A T 7: 79,106,466 (GRCm39) M668K probably benign Het
Ppp1r12a G T 10: 108,107,598 (GRCm39) A974S probably benign Het
Ppp2r3d T C 9: 101,090,501 (GRCm39) probably benign Het
Rabl3 T C 16: 37,377,225 (GRCm39) Y61H probably damaging Het
Rap2a T A 14: 120,716,269 (GRCm39) I44N probably damaging Het
Rev3l T C 10: 39,735,111 (GRCm39) V2779A probably damaging Het
Rnf43 G T 11: 87,622,057 (GRCm39) R259L probably benign Het
Rspry1 T A 8: 95,376,450 (GRCm39) L448Q probably damaging Het
Slc43a2 T G 11: 75,434,193 (GRCm39) probably null Het
Slc6a5 A G 7: 49,598,057 (GRCm39) I640M probably benign Het
Sp140l1 T G 1: 85,077,261 (GRCm39) S102R probably damaging Het
Srrm2 C T 17: 24,034,297 (GRCm39) P314S unknown Het
Strn4 C T 7: 16,562,733 (GRCm39) R291C probably damaging Het
Syt4 T A 18: 31,577,230 (GRCm39) R41S probably benign Het
Tfb1m T C 17: 3,569,855 (GRCm39) D337G probably benign Het
Togaram1 G T 12: 65,029,465 (GRCm39) D963Y possibly damaging Het
Tpsg1 T C 17: 25,591,564 (GRCm39) C55R probably damaging Het
Tram1l1 A G 3: 124,115,911 (GRCm39) K357R probably benign Het
Veph1 A G 3: 66,171,316 (GRCm39) I42T probably damaging Het
Vps13b C G 15: 35,709,456 (GRCm39) S1801* probably null Het
Zcwpw1 G A 5: 137,817,839 (GRCm39) probably null Het
Zfp266 G A 9: 20,418,110 (GRCm39) probably benign Het
Zmym5 T A 14: 57,031,918 (GRCm39) R397* probably null Het
Other mutations in Pkmyt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03278:Pkmyt1 APN 17 23,953,221 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GACCCTGGTCATAGCACATAGG -3'
(R):5'- CTGTCTGCAGGTATAGGATGC -3'

Sequencing Primer
(F):5'- TGGTCATAGCACATAGGTCTACC -3'
(R):5'- AGGTATAGGATGCCACCCTC -3'
Posted On 2020-07-13