Incidental Mutation 'R8391:Pkmyt1'
ID 647402
Institutional Source Beutler Lab
Gene Symbol Pkmyt1
Ensembl Gene ENSMUSG00000023908
Gene Name protein kinase, membrane associated tyrosine/threonine 1
Synonyms Myt1
MMRRC Submission 067756-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R8391 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 23945385-23955709 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 23954013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 307 (R307C)
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: R307C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024701
Gene: ENSMUSG00000023908
AA Change: R307C

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: 99.0%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T C 16: 20,368,968 (GRCm39) S155P possibly damaging Het
Akr1c21 C T 13: 4,626,278 (GRCm39) R101W probably damaging Het
Angpt1 T A 15: 42,375,794 (GRCm39) N154I probably damaging Het
Aoc1l2 T C 6: 48,909,602 (GRCm39) W616R probably damaging Het
Atp2a1 T A 7: 126,047,888 (GRCm39) I641F possibly damaging Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Bltp3b T C 10: 89,645,605 (GRCm39) V1226A possibly damaging Het
Cacna1b G A 2: 24,596,212 (GRCm39) A493V probably damaging Het
Cacna1h G A 17: 25,596,204 (GRCm39) A1939V probably benign Het
Cacna2d4 A G 6: 119,325,706 (GRCm39) I1027V probably benign Het
Cbln3 G A 14: 56,120,523 (GRCm39) R170C probably damaging Het
Cemip T C 7: 83,604,517 (GRCm39) S842G probably damaging Het
Cep164 T A 9: 45,718,491 (GRCm39) Q284L unknown Het
Crybg2 T C 4: 133,803,035 (GRCm39) F889L probably damaging Het
Fhip1a T C 3: 85,595,788 (GRCm39) N366D probably damaging Het
Gars1 T A 6: 55,025,127 (GRCm39) Y124N probably damaging Het
Gbp2b T C 3: 142,309,894 (GRCm39) F228S probably damaging Het
Gm5565 C A 5: 146,096,962 (GRCm39) R59L probably benign Het
Gm8947 A T 1: 151,068,737 (GRCm39) D190V probably benign Het
Grid2ip T C 5: 143,365,951 (GRCm39) M543T probably damaging Het
Gucy2c A G 6: 136,681,213 (GRCm39) L957P probably damaging Het
Hint1 T C 11: 54,757,368 (GRCm39) I18T possibly damaging Het
Il23r T C 6: 67,429,374 (GRCm39) S323G probably benign Het
Iqcf3 T G 9: 106,438,175 (GRCm39) E16A unknown Het
Kcnj1 A T 9: 32,308,028 (GRCm39) T151S probably damaging Het
Kdm1a G T 4: 136,281,154 (GRCm39) T685K probably benign Het
Lipo4 T A 19: 33,488,965 (GRCm39) H206L probably benign Het
Lrp5 A G 19: 3,654,185 (GRCm39) Y1081H probably damaging Het
Masp1 A T 16: 23,289,128 (GRCm39) H557Q possibly damaging Het
Nhsl1 C T 10: 18,400,691 (GRCm39) T605I possibly damaging Het
Or1af1 T A 2: 37,110,277 (GRCm39) Y259N probably damaging Het
Or1j21 C T 2: 36,684,096 (GRCm39) P283S probably damaging Het
Plppr4 T C 3: 117,129,060 (GRCm39) I136V probably benign Het
Ppp1r12c A C 7: 4,500,431 (GRCm39) Y150D probably damaging Het
Qrich2 C G 11: 116,356,403 (GRCm39) V149L probably benign Het
R3hdm1 T C 1: 128,121,215 (GRCm39) F176L Het
Ric8a T A 7: 140,437,916 (GRCm39) S52T probably benign Het
Romo1 G T 2: 155,986,340 (GRCm39) probably benign Het
Rps6ka1 G A 4: 133,591,346 (GRCm39) H318Y probably damaging Het
Slc43a3 A G 2: 84,768,151 (GRCm39) N41S probably benign Het
Srrm4 T G 5: 116,582,755 (GRCm39) T567P unknown Het
Srsf12 C G 4: 33,226,070 (GRCm39) P111R probably damaging Het
St6galnac4 G T 2: 32,484,086 (GRCm39) D95Y probably damaging Het
Sult2a6 T C 7: 13,956,516 (GRCm39) probably null Het
Synj2 A G 17: 5,991,796 (GRCm39) E24G probably damaging Het
Try10 T G 6: 41,334,306 (GRCm39) L166R probably damaging Het
Ttn A G 2: 76,562,544 (GRCm39) V28767A probably damaging Het
Ttn T A 2: 76,604,822 (GRCm39) I18371F probably damaging Het
Zc3h13 T A 14: 75,568,625 (GRCm39) L1306Q probably damaging Het
Zp2 T A 7: 119,726,179 (GRCm39) T674S probably benign Het
Zscan4-ps3 A G 7: 11,346,801 (GRCm39) Y279C probably benign 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
R8257:Pkmyt1 UTSW 17 23,953,148 (GRCm39) missense probably benign 0.00
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'- TCTTGACTGGTGCTCACTG -3'
(R):5'- AGAAGACAGACCTGCCGATG -3'

Sequencing Primer
(F):5'- TTATGGTAGAAGAGAACGGCCCTTTC -3'
(R):5'- CCAGAAGCTGGTGATAGT -3'
Posted On 2020-09-02