Incidental Mutation 'IGL02801:Melk'
ID360190
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Melk
Ensembl Gene ENSMUSG00000035683
Gene Namematernal embryonic leucine zipper kinase
SynonymsMPK38
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02801
Quality Score
Status
Chromosome4
Chromosomal Location44300876-44364675 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44360930 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 570 (I570T)
Ref Sequence ENSEMBL: ENSMUSP00000043806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045607]
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: I570T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043806
Gene: ENSMUSG00000035683
AA Change: I570T

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
Coding Region Coverage
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap5 A T 12: 76,328,995 K400N probably benign Het
Aox2 A T 1: 58,354,177 I1193F probably damaging Het
Arhgef16 A T 4: 154,291,507 L10Q probably damaging Het
Arl10 T C 13: 54,575,883 V106A probably benign Het
Bmi1 T C 2: 18,681,881 Y24H probably damaging Het
Cd163 T A 6: 124,320,529 I878K probably benign Het
Col12a1 A G 9: 79,608,414 probably null Het
Csmd2 T C 4: 128,552,075 probably null Het
Dcp2 G T 18: 44,417,711 M417I probably damaging Het
Ddx11 T A 17: 66,148,033 C662S probably benign Het
Dhx29 G A 13: 112,964,646 C1241Y probably damaging Het
Dnajc6 C T 4: 101,597,813 P37L probably benign Het
Dqx1 A G 6: 83,060,495 probably null Het
Dzip1 T A 14: 118,885,655 K643* probably null Het
Ecel1 A G 1: 87,152,003 S463P probably damaging Het
Eml5 A G 12: 98,817,845 V1361A possibly damaging Het
Fads2 C A 19: 10,082,645 A222S possibly damaging Het
Fancd2 A G 6: 113,593,317 N1410D probably benign Het
Fbxw16 A G 9: 109,441,076 F199S possibly damaging Het
Frem2 A G 3: 53,652,175 V1637A possibly damaging Het
Gabrg2 A G 11: 41,912,393 S442P probably damaging Het
Gprin3 T C 6: 59,354,981 T114A possibly damaging Het
Hoxd8 A G 2: 74,706,568 E27G probably damaging Het
Isl2 A G 9: 55,545,532 probably null Het
Lamc2 T A 1: 153,136,783 H715L probably benign Het
Lrif1 T C 3: 106,734,614 V102A possibly damaging Het
Lrrc39 A G 3: 116,578,346 N254S possibly damaging Het
Med13l T C 5: 118,745,113 W1346R probably damaging Het
Mlkl G A 8: 111,316,432 T361M probably benign Het
Myo1f T A 17: 33,578,137 M94K probably damaging Het
Naip1 A G 13: 100,444,368 C124R probably damaging Het
Nek1 G A 8: 61,121,061 probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Pde1c G T 6: 56,173,666 N289K probably damaging Het
Pfas G A 11: 68,988,277 probably benign Het
Pms2 A T 5: 143,925,835 I587F probably benign Het
Ppargc1b T C 18: 61,307,684 E721G possibly damaging Het
Ppp2r1b A G 9: 50,878,827 I435V probably benign Het
Psip1 C T 4: 83,458,120 S494N probably benign Het
Ranbp3 T C 17: 56,710,766 V474A probably benign Het
Rnf220 C T 4: 117,273,251 C259Y probably damaging Het
Sdr16c6 T C 4: 4,076,603 I99V probably benign Het
Slc36a1 A T 11: 55,226,053 I303F probably benign Het
Slc4a1 C T 11: 102,359,146 probably null Het
Syncrip A T 9: 88,479,809 D84E probably damaging Het
Tbc1d9b T C 11: 50,152,830 Y593H probably damaging Het
Tenm2 G T 11: 36,047,030 Y1605* probably null Het
Tmem135 T A 7: 89,154,125 H280L probably benign Het
Tmem229a T A 6: 24,955,122 Q211L probably benign Het
Txlna T C 4: 129,640,408 D5G probably damaging Het
Vmn2r57 T C 7: 41,448,632 I4V probably benign Het
Wdfy3 A G 5: 101,907,587 L1539S probably damaging Het
Zdhhc14 T G 17: 5,726,819 probably null Het
Other mutations in Melk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Melk APN 4 44347262 missense probably benign 0.05
IGL01367:Melk APN 4 44332907 missense possibly damaging 0.62
IGL01865:Melk APN 4 44344988 missense probably benign 0.00
R0037:Melk UTSW 4 44360864 splice site probably benign
R0433:Melk UTSW 4 44340614 splice site probably benign
R0570:Melk UTSW 4 44308906 missense probably damaging 1.00
R0786:Melk UTSW 4 44303649 missense unknown
R1483:Melk UTSW 4 44308937 missense probably damaging 1.00
R2042:Melk UTSW 4 44309051 critical splice donor site probably null
R3831:Melk UTSW 4 44345021 missense probably benign 0.05
R5060:Melk UTSW 4 44350959 missense probably benign 0.15
R5236:Melk UTSW 4 44344959 missense probably benign
R5269:Melk UTSW 4 44363730 missense probably damaging 1.00
R5357:Melk UTSW 4 44363730 missense probably damaging 1.00
R5358:Melk UTSW 4 44363730 missense probably damaging 1.00
R5360:Melk UTSW 4 44363730 missense probably damaging 1.00
R5430:Melk UTSW 4 44309033 missense probably damaging 1.00
R5576:Melk UTSW 4 44312255 missense probably null 1.00
R5656:Melk UTSW 4 44312237 missense possibly damaging 0.95
R5738:Melk UTSW 4 44310333 missense probably damaging 1.00
R5972:Melk UTSW 4 44351007 missense probably benign 0.01
R6265:Melk UTSW 4 44318109 missense probably damaging 1.00
R6340:Melk UTSW 4 44340633 missense probably damaging 1.00
R7202:Melk UTSW 4 44351106 missense probably benign
R7242:Melk UTSW 4 44360885 missense probably damaging 1.00
R7328:Melk UTSW 4 44332931 missense probably benign
R7608:Melk UTSW 4 44325571 splice site probably null
R8053:Melk UTSW 4 44318109 missense probably damaging 1.00
R8185:Melk UTSW 4 44360965 missense probably benign 0.14
R8356:Melk UTSW 4 44312191 missense possibly damaging 0.75
R8456:Melk UTSW 4 44312191 missense possibly damaging 0.75
X0020:Melk UTSW 4 44349876 missense probably benign 0.28
Posted On2015-12-18