Incidental Mutation 'R8257:Pkmyt1'
ID 640535
Institutional Source Beutler Lab
Gene Symbol Pkmyt1
Ensembl Gene ENSMUSG00000023908
Gene Name protein kinase, membrane associated tyrosine/threonine 1
Synonyms Myt1
MMRRC Submission 067683-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R8257 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 23945385-23955709 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 23953148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 235 (R235W)
Ref Sequence ENSEMBL: ENSMUSP00000024701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024701] [ENSMUST00000024702]
AlphaFold Q9ESG9
Predicted Effect probably benign
Transcript: ENSMUST00000024701
AA Change: R235W

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000024701
Gene: ENSMUSG00000023908
AA Change: R235W

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: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,950,153 (GRCm39) K1350R probably benign Het
4933407L21Rik T A 1: 85,859,060 (GRCm39) C70* probably null Het
Akr1c6 G A 13: 4,488,525 (GRCm39) V97I probably benign Het
Alg9 A T 9: 50,690,387 (GRCm39) I130F possibly damaging Het
Ankle2 G T 5: 110,401,781 (GRCm39) probably null Het
Ankrd34a A T 3: 96,505,045 (GRCm39) H83L possibly damaging Het
Aoc1l2 A G 6: 48,909,431 (GRCm39) T559A probably benign Het
Ate1 T C 7: 130,069,037 (GRCm39) Y367C probably damaging Het
Atg9b C T 5: 24,591,303 (GRCm39) probably benign Het
Atp2c1 A G 9: 105,308,756 (GRCm39) S626P probably benign Het
Ccdc171 A G 4: 83,614,606 (GRCm39) N1069S probably damaging Het
Cdh20 A G 1: 104,921,962 (GRCm39) D753G probably benign Het
Cdk11b A G 4: 155,732,398 (GRCm39) E517G unknown Het
Chst5 A T 8: 112,617,092 (GRCm39) V176E probably damaging Het
Ddx50 T C 10: 62,452,299 (GRCm39) probably benign Het
Dspp A G 5: 104,324,867 (GRCm39) D410G probably benign Het
Dync1h1 T A 12: 110,602,908 (GRCm39) V2183E probably damaging Het
Emilin2 A G 17: 71,580,995 (GRCm39) V577A probably benign Het
Entpd2 T A 2: 25,288,133 (GRCm39) L119Q probably damaging Het
Foxa1 A T 12: 57,589,932 (GRCm39) M96K probably benign Het
Ggnbp2 C T 11: 84,728,815 (GRCm39) probably null Het
H2-Aa T C 17: 34,502,211 (GRCm39) T237A probably damaging Het
Itih4 G A 14: 30,609,825 (GRCm39) V52I possibly damaging Het
Kntc1 T C 5: 123,896,586 (GRCm39) probably null Het
Lgi4 A T 7: 30,766,766 (GRCm39) probably null Het
Map4k2 G A 19: 6,396,030 (GRCm39) R455H probably benign Het
Masp2 A G 4: 148,687,497 (GRCm39) T95A possibly damaging Het
Mtmr12 T C 15: 12,259,684 (GRCm39) I351T possibly damaging Het
Ncdn A G 4: 126,643,676 (GRCm39) probably null Het
Nckipsd A G 9: 108,692,127 (GRCm39) E516G probably benign Het
Nlrp12 A G 7: 3,297,962 (GRCm39) W70R probably damaging Het
Nmral1 T A 16: 4,534,267 (GRCm39) D58V probably damaging Het
Nr2c1 A G 10: 94,028,769 (GRCm39) Y522C probably damaging Het
Or14c45 A G 7: 86,176,678 (GRCm39) T238A possibly damaging Het
Or1e23 A G 11: 73,407,203 (GRCm39) M274T probably benign Het
Or2d3b A G 7: 106,513,926 (GRCm39) I174V probably benign Het
Or2w1b A G 13: 21,300,543 (GRCm39) N227S probably benign Het
Pcdhga6 T A 18: 37,841,868 (GRCm39) N529K probably benign Het
Prss43 T C 9: 110,659,880 (GRCm39) S315P possibly damaging Het
Psmd1 T A 1: 86,006,345 (GRCm39) V237E probably damaging Het
Ptprf A G 4: 118,083,476 (GRCm39) Y844H probably damaging Het
Ryr1 C T 7: 28,764,064 (GRCm39) V3089I possibly damaging Het
Slc1a7 A G 4: 107,865,394 (GRCm39) D294G possibly damaging Het
Slc5a10 T A 11: 61,605,873 (GRCm39) T148S probably damaging Het
Spata25 T C 2: 164,669,690 (GRCm39) D107G possibly damaging Het
Stambpl1 A G 19: 34,208,901 (GRCm39) E132G probably damaging Het
Tgfb1 A G 7: 25,396,373 (GRCm39) H222R probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Trmt1l T A 1: 151,304,629 (GRCm39) M1K probably null Het
Vmn2r86 A T 10: 130,288,279 (GRCm39) H407Q possibly damaging Het
Wdr36 T A 18: 32,974,339 (GRCm39) probably benign Het
Zfp35 T A 18: 24,137,288 (GRCm39) I544N possibly damaging 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
R8174:Pkmyt1 UTSW 17 23,952,813 (GRCm39) missense probably damaging 1.00
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'- TGGCATCCTATACCTGCAGAC -3'
(R):5'- AGGCAGTCCCTTTCTGTCTG -3'

Sequencing Primer
(F):5'- CAGAACTCTGCGGGCCCAG -3'
(R):5'- ACCAACAAAGGGCTCTTACAGTC -3'
Posted On 2020-07-28