Incidental Mutation 'R6265:Melk'
ID 506928
Institutional Source Beutler Lab
Gene Symbol Melk
Ensembl Gene ENSMUSG00000035683
Gene Name maternal embryonic leucine zipper kinase
Synonyms MPK38
MMRRC Submission 044438-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6265 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 44300876-44364301 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44318109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 170 (Y170C)
Ref Sequence ENSEMBL: ENSMUSP00000120242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045607] [ENSMUST00000125708] [ENSMUST00000137703]
AlphaFold Q61846
Predicted Effect probably damaging
Transcript: ENSMUST00000045607
AA Change: Y218C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043806
Gene: ENSMUSG00000035683
AA Change: Y218C

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118668
Predicted Effect probably benign
Transcript: ENSMUST00000125708
SMART Domains Protein: ENSMUSP00000118359
Gene: ENSMUSG00000035683

DomainStartEndE-ValueType
Pfam:Pkinase 11 91 1.9e-15 PFAM
Pfam:Pkinase_Tyr 11 97 4.3e-10 PFAM
Pfam:Pkinase 88 134 6.7e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137703
AA Change: Y170C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120242
Gene: ENSMUSG00000035683
AA Change: Y170C

DomainStartEndE-ValueType
Pfam:Pkinase 11 88 7.7e-15 PFAM
Pfam:Pkinase_Tyr 11 88 3.1e-9 PFAM
Pfam:Pkinase_Tyr 87 212 1.5e-15 PFAM
Pfam:Pkinase 87 215 3.4e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137759
Meta Mutation Damage Score 0.7345 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik C T 4: 137,181,986 (GRCm39) P47L probably damaging Het
Acot1 T C 12: 84,063,687 (GRCm39) I265T probably benign Het
Amotl1 T C 9: 14,482,951 (GRCm39) D587G possibly damaging Het
Anks1b T G 10: 90,777,362 (GRCm39) D1117E probably damaging Het
Art4 T G 6: 136,831,886 (GRCm39) N85T probably damaging Het
Asb3 C A 11: 31,035,143 (GRCm39) Q462K probably benign Het
Atcay C T 10: 81,049,114 (GRCm39) E163K possibly damaging Het
Atp6v0e T C 17: 26,895,507 (GRCm39) V20A possibly damaging Het
Atp7b G A 8: 22,505,943 (GRCm39) Q520* probably null Het
Baat A T 4: 49,502,836 (GRCm39) D95E possibly damaging Het
Cars2 TCCCC TCCC 8: 11,579,599 (GRCm39) probably null Het
Ccdc24 G A 4: 117,728,374 (GRCm39) Q47* probably null Het
Cep170b C A 12: 112,710,993 (GRCm39) Q1488K probably damaging Het
Cldn24 A C 8: 48,275,374 (GRCm39) D66A probably benign Het
Cln5 C A 14: 103,310,663 (GRCm39) T110K probably damaging Het
Clvs2 C A 10: 33,404,511 (GRCm39) S235I possibly damaging Het
Col5a3 C T 9: 20,705,060 (GRCm39) G730R unknown Het
Crim1 C T 17: 78,677,514 (GRCm39) P905L probably benign Het
Cxxc4 T C 3: 133,963,824 (GRCm39) V356A probably benign Het
Dctn6 G T 8: 34,562,057 (GRCm39) N93K probably damaging Het
Dnah9 G A 11: 66,058,920 (GRCm39) A125V probably benign Het
Dnhd1 T C 7: 105,342,577 (GRCm39) I1307T probably benign Het
Dpy19l1 T A 9: 24,343,667 (GRCm39) I493F possibly damaging Het
Ebf2 A G 14: 67,661,509 (GRCm39) I546V probably benign Het
Fbll1 T C 11: 35,688,636 (GRCm39) E209G probably damaging Het
Foxj2 G A 6: 122,805,133 (GRCm39) A2T probably damaging Het
Foxs1 A T 2: 152,774,098 (GRCm39) C318* probably null Het
Gorab T C 1: 163,214,199 (GRCm39) T244A possibly damaging Het
Gtsf1l C A 2: 162,929,583 (GRCm39) probably benign Het
Herc1 T C 9: 66,279,298 (GRCm39) S69P probably benign Het
Hpca C T 4: 129,012,445 (GRCm39) W30* probably null Het
Ing3 C A 6: 21,953,813 (GRCm39) Q85K probably damaging Het
Klhdc8b T C 9: 108,325,624 (GRCm39) E264G probably damaging Het
Lair1 T A 7: 4,058,826 (GRCm39) probably benign Het
Lama1 T C 17: 68,057,650 (GRCm39) Y575H probably damaging Het
Lamtor2 C A 3: 88,458,020 (GRCm39) G29* probably null Het
Loxhd1 A T 18: 77,449,426 (GRCm39) D341V probably damaging Het
Lrp2 T A 2: 69,296,684 (GRCm39) D3290V probably damaging Het
Matn2 A T 15: 34,399,301 (GRCm39) D396V probably damaging Het
Me3 T A 7: 89,498,951 (GRCm39) D510E probably benign Het
Mgat2 T C 12: 69,231,567 (GRCm39) V47A probably benign Het
Mindy4 T C 6: 55,278,049 (GRCm39) I631T probably damaging Het
Myo5b T A 18: 74,710,511 (GRCm39) probably null Het
Myo7b A T 18: 32,131,203 (GRCm39) D521E probably damaging Het
Nlrp9b T A 7: 19,796,608 (GRCm39) F986I probably benign Het
Or8k39 A G 2: 86,563,299 (GRCm39) L219P probably damaging Het
Patj A G 4: 98,357,804 (GRCm39) D690G probably benign Het
Pias2 T C 18: 77,184,954 (GRCm39) S5P probably damaging Het
Reep4 A T 14: 70,785,143 (GRCm39) S150C probably damaging Het
Slc25a21 T C 12: 57,243,685 (GRCm39) R14G probably benign Het
Slc6a6 G C 6: 91,731,896 (GRCm39) R575T probably damaging Het
Speg T A 1: 75,383,323 (GRCm39) Y886* probably null Het
Tas2r103 A C 6: 133,013,494 (GRCm39) F191V probably damaging Het
Tbc1d19 A G 5: 53,995,266 (GRCm39) D145G probably benign Het
Tex47 T A 5: 7,355,461 (GRCm39) I214N probably damaging Het
Tnnt3 A T 7: 142,055,382 (GRCm39) D3V probably damaging Het
Trdv2-1 T G 14: 54,183,842 (GRCm39) S24A probably benign Het
Ubr4 A G 4: 139,179,951 (GRCm39) D3377G possibly damaging Het
Ugt3a1 A T 15: 9,361,665 (GRCm39) D147V probably damaging Het
Usp9y A T Y: 1,446,843 (GRCm39) D103E probably benign Homo
Vmn1r168 A G 7: 23,240,961 (GRCm39) I273V probably benign Het
Vmn2r61 T C 7: 41,915,915 (GRCm39) I176T probably benign Het
Vmn2r8 T A 5: 108,956,463 (GRCm39) D53V probably benign Het
Zbtb8os A T 4: 129,229,775 (GRCm39) probably benign Het
Zfp551 C T 7: 12,149,339 (GRCm39) R690Q 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
R5360: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
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'- ATTGAACGTCAGCAGGCCTTC -3'
(R):5'- ATGCAGGCTCCAACTATTTTCC -3'

Sequencing Primer
(F):5'- AGGCCTTCCATTGAGTCAGTGAC -3'
(R):5'- ATTTTCCCCTTAACCATGGCCAAAC -3'
Posted On 2018-03-15