Incidental Mutation 'R5360:Melk'
ID 424276
Institutional Source Beutler Lab
Gene Symbol Melk
Ensembl Gene ENSMUSG00000035683
Gene Name maternal embryonic leucine zipper kinase
Synonyms MPK38
MMRRC Submission 042939-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5360 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 44300876-44364301 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44363730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 592 (T592M)
Ref Sequence ENSEMBL: ENSMUSP00000043806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045607]
AlphaFold Q61846
PDB Structure The crystal structure of mouse PK38 [X-RAY DIFFRACTION]
The crystal structure of MPK38 in complex with OTSSP167, an orally- administrative MELK selective inhibitor [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000045607
AA Change: T592M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043806
Gene: ENSMUSG00000035683
AA Change: T592M

DomainStartEndE-ValueType
S_TKc 11 263 2.64e-105 SMART
low complexity region 313 325 N/A INTRINSIC
Pfam:KA1 599 643 2.2e-16 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an allele that produces a kinase-dead protein exhibit altered pancreatic regeneration following injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T A 19: 55,279,592 (GRCm39) Y443* probably null Het
Aox3 C T 1: 58,185,667 (GRCm39) T331M probably damaging Het
Arhgap32 G A 9: 32,170,967 (GRCm39) R1598H probably damaging Het
Atp1a2 A G 1: 172,106,436 (GRCm39) probably null Het
Brpf3 A T 17: 29,029,536 (GRCm39) M499L probably benign Het
Cacnb1 A T 11: 97,909,097 (GRCm39) probably null Het
Cep295 A G 9: 15,238,029 (GRCm39) S1899P probably damaging Het
Cntn2 A G 1: 132,446,595 (GRCm39) Y748H probably damaging Het
Csmd3 T A 15: 47,532,599 (GRCm39) Y2532F probably damaging Het
Cstdc1 G T 2: 148,625,298 (GRCm39) L77F probably damaging Het
Dsg1a A G 18: 20,474,011 (GRCm39) D1028G probably damaging Het
Eif1ad16 A C 12: 87,985,265 (GRCm39) L93V probably benign Het
Elp1 A T 4: 56,800,104 (GRCm39) H7Q probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gabra5 C T 7: 57,140,533 (GRCm39) G55R probably damaging Het
Gdf9 T A 11: 53,328,034 (GRCm39) F330Y probably benign Het
Gimap8 T C 6: 48,633,236 (GRCm39) S352P probably damaging Het
Gm4952 A T 19: 12,600,993 (GRCm39) H71L probably benign Het
Gnaq G A 19: 16,110,790 (GRCm39) R34H probably benign Het
Hebp2 T C 10: 18,420,055 (GRCm39) D126G probably benign Het
Hectd4 A G 5: 121,453,464 (GRCm39) D601G possibly damaging Het
Hook2 T C 8: 85,728,033 (GRCm39) Y577H probably damaging Het
Igfals A G 17: 25,099,067 (GRCm39) T53A probably benign Het
Igsf9b A G 9: 27,222,968 (GRCm39) D123G probably damaging Het
Ilrun A T 17: 28,013,020 (GRCm39) I59N probably damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mdm4 A T 1: 132,919,396 (GRCm39) *490K probably null Het
Neurl2 C A 2: 164,675,021 (GRCm39) A114S probably damaging Het
Nuggc A G 14: 65,876,075 (GRCm39) T563A probably damaging Het
Or8g32 T G 9: 39,305,698 (GRCm39) F204V probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pdlim1 A T 19: 40,218,993 (GRCm39) S213T probably damaging Het
Pitx1 T C 13: 55,976,291 (GRCm39) I123V probably damaging Het
Pkd1l1 T C 11: 8,829,204 (GRCm39) N1013D probably benign Het
Pla2g2c T A 4: 138,461,656 (GRCm39) Y42N possibly damaging Het
Polr2b G A 5: 77,496,993 (GRCm39) A1168T possibly damaging Het
Ppp2r2a G A 14: 67,254,020 (GRCm39) R383* probably null Het
Prl7a2 C T 13: 27,843,143 (GRCm39) R220H probably benign Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rc3h2 A G 2: 37,279,867 (GRCm39) V454A possibly damaging Het
Robo1 A G 16: 72,732,665 (GRCm39) T307A probably damaging Het
Slc22a6 T C 19: 8,596,786 (GRCm39) L188P probably damaging Het
Spag17 A G 3: 100,016,726 (GRCm39) N2167S probably benign Het
Spag5 G A 11: 78,205,588 (GRCm39) E680K probably damaging Het
Spata6 A G 4: 111,680,026 (GRCm39) Y428C possibly damaging Het
Tbc1d5 T C 17: 51,291,660 (GRCm39) D47G probably benign Het
Trp53 T C 11: 69,479,566 (GRCm39) probably null Het
Tsc22d1 TCAGCAGCAGCAGCAGCAGCAGCAGCA TCAGCAGCAGCAGCAGCAGCAGCA 14: 76,654,707 (GRCm39) probably benign Het
Ttc39b T C 4: 83,180,084 (GRCm39) D103G probably damaging Het
Ttn A C 2: 76,750,322 (GRCm39) W3576G probably benign Het
Yeats2 T A 16: 19,972,912 (GRCm39) M22K probably damaging Het
Other mutations in Melk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Melk APN 4 44,347,262 (GRCm39) missense probably benign 0.05
IGL01367:Melk APN 4 44,332,907 (GRCm39) missense possibly damaging 0.62
IGL01865:Melk APN 4 44,344,988 (GRCm39) missense probably benign 0.00
IGL02801:Melk APN 4 44,360,930 (GRCm39) missense probably damaging 0.99
R0037:Melk UTSW 4 44,360,864 (GRCm39) splice site probably benign
R0433:Melk UTSW 4 44,340,614 (GRCm39) splice site probably benign
R0570:Melk UTSW 4 44,308,906 (GRCm39) missense probably damaging 1.00
R0786:Melk UTSW 4 44,303,649 (GRCm39) missense unknown
R1483:Melk UTSW 4 44,308,937 (GRCm39) missense probably damaging 1.00
R2042:Melk UTSW 4 44,309,051 (GRCm39) critical splice donor site probably null
R3831:Melk UTSW 4 44,345,021 (GRCm39) missense probably benign 0.05
R5060:Melk UTSW 4 44,350,959 (GRCm39) missense probably benign 0.15
R5236:Melk UTSW 4 44,344,959 (GRCm39) missense probably benign
R5269:Melk UTSW 4 44,363,730 (GRCm39) missense probably damaging 1.00
R5357:Melk UTSW 4 44,363,730 (GRCm39) missense probably damaging 1.00
R5358:Melk UTSW 4 44,363,730 (GRCm39) missense probably damaging 1.00
R5430:Melk UTSW 4 44,309,033 (GRCm39) missense probably damaging 1.00
R5576:Melk UTSW 4 44,312,255 (GRCm39) missense probably null 1.00
R5656:Melk UTSW 4 44,312,237 (GRCm39) missense possibly damaging 0.95
R5738:Melk UTSW 4 44,310,333 (GRCm39) missense probably damaging 1.00
R5972:Melk UTSW 4 44,351,007 (GRCm39) missense probably benign 0.01
R6265:Melk UTSW 4 44,318,109 (GRCm39) missense probably damaging 1.00
R6340:Melk UTSW 4 44,340,633 (GRCm39) missense probably damaging 1.00
R7202:Melk UTSW 4 44,351,106 (GRCm39) missense probably benign
R7242:Melk UTSW 4 44,360,885 (GRCm39) missense probably damaging 1.00
R7328:Melk UTSW 4 44,332,931 (GRCm39) missense probably benign
R7608:Melk UTSW 4 44,325,571 (GRCm39) splice site probably null
R8053:Melk UTSW 4 44,318,109 (GRCm39) missense probably damaging 1.00
R8185:Melk UTSW 4 44,360,965 (GRCm39) missense probably benign 0.14
R8356:Melk UTSW 4 44,312,191 (GRCm39) missense possibly damaging 0.75
R8456:Melk UTSW 4 44,312,191 (GRCm39) missense possibly damaging 0.75
R9365:Melk UTSW 4 44,340,693 (GRCm39) missense probably null
R9749:Melk UTSW 4 44,307,067 (GRCm39) missense possibly damaging 0.63
X0020:Melk UTSW 4 44,349,876 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- TCACCACTCAGCACTGTAGC -3'
(R):5'- AGTCTTCCTGTGTGCAACATC -3'

Sequencing Primer
(F):5'- TAGCACAGCCAGGCCAGTG -3'
(R):5'- ACATTCATCCGGGCAGACG -3'
Posted On 2016-08-04