Incidental Mutation 'R5576:Melk'
ID 437201
Institutional Source Beutler Lab
Gene Symbol Melk
Ensembl Gene ENSMUSG00000035683
Gene Name maternal embryonic leucine zipper kinase
Synonyms MPK38
MMRRC Submission 043131-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5576 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 44300876-44364301 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44312255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 141 (E141G)
Ref Sequence ENSEMBL: ENSMUSP00000120242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045607] [ENSMUST00000125708] [ENSMUST00000137703]
AlphaFold Q61846
Predicted Effect probably null
Transcript: ENSMUST00000045607
AA Change: E189G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043806
Gene: ENSMUSG00000035683
AA Change: E189G

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 null
Transcript: ENSMUST00000125708
AA Change: E118G

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118359
Gene: ENSMUSG00000035683
AA Change: E118G

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 null
Transcript: ENSMUST00000137703
AA Change: E141G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120242
Gene: ENSMUSG00000035683
AA Change: E141G

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.5%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik G A 5: 109,885,570 (GRCm39) T96I probably benign Het
Add2 G T 6: 86,084,457 (GRCm39) probably null Het
Agbl1 C T 7: 75,984,985 (GRCm39) T134M probably benign Het
Agfg1 T A 1: 82,848,445 (GRCm39) S32T probably benign Het
Ankrd17 A C 5: 90,391,083 (GRCm39) S2087A probably benign Het
Apob A T 12: 8,048,662 (GRCm39) E1012V probably damaging Het
Baiap2 T A 11: 119,887,737 (GRCm39) V297E probably benign Het
BC034090 T G 1: 155,117,214 (GRCm39) K301N probably benign Het
Bhlha9 T C 11: 76,563,595 (GRCm39) I74T probably damaging Het
Btnl9 T C 11: 49,069,712 (GRCm39) H189R probably benign Het
Ccdc122 G A 14: 77,329,317 (GRCm39) M123I probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dnah9 T C 11: 65,724,922 (GRCm39) probably null Het
Dnaja2 A T 8: 86,266,033 (GRCm39) L351I possibly damaging Het
Efcab6 C A 15: 83,834,201 (GRCm39) S469I probably benign Het
Esp15 C A 17: 39,953,564 (GRCm39) T17K probably damaging Het
Fads1 A G 19: 10,163,238 (GRCm39) T172A probably benign Het
Fbp2 A T 13: 62,985,005 (GRCm39) D305E probably benign Het
Golga4 A G 9: 118,382,602 (GRCm39) T541A probably benign Het
Herc3 T C 6: 58,865,710 (GRCm39) Y768H probably benign Het
Kmt2a A G 9: 44,753,931 (GRCm39) V514A possibly damaging Het
Nln A G 13: 104,195,338 (GRCm39) Y245H probably damaging Het
Nrap C T 19: 56,310,414 (GRCm39) R1563H probably damaging Het
Or7g34 T A 9: 19,478,369 (GRCm39) M101L probably benign Het
Or8b44 A C 9: 38,410,204 (GRCm39) K80Q probably damaging Het
Pde4b T A 4: 102,287,359 (GRCm39) I34N probably damaging Het
Pex11g A G 8: 3,515,875 (GRCm39) S53P probably damaging Het
Pole A T 5: 110,459,931 (GRCm39) K1112* probably null Het
Ppfia4 T G 1: 134,250,788 (GRCm39) D184A possibly damaging Het
Rpp30 T A 19: 36,079,251 (GRCm39) D216E probably benign Het
Sbno2 C T 10: 79,903,171 (GRCm39) A398T probably damaging Het
Sbp T A 17: 24,164,552 (GRCm39) S94T probably benign Het
Skp1 T G 11: 52,133,415 (GRCm39) D33E possibly damaging Het
Slc17a8 A G 10: 89,433,364 (GRCm39) W220R probably damaging Het
Slfn9 A T 11: 82,872,258 (GRCm39) M826K probably benign Het
Snx2 A G 18: 53,343,822 (GRCm39) K322E probably benign Het
Spata32 T A 11: 103,100,653 (GRCm39) N38I possibly damaging Het
Sycp1 T C 3: 102,726,218 (GRCm39) R969G probably damaging Het
Trgc2 T C 13: 19,489,301 (GRCm39) I144V probably benign Het
Trpc1 A G 9: 95,603,377 (GRCm39) L385S probably damaging Het
Vmn2r105 C T 17: 20,444,836 (GRCm39) probably null Het
Xrcc6 T A 15: 81,906,693 (GRCm39) D79E probably damaging Het
Zan A T 5: 137,426,744 (GRCm39) C2467* probably null Het
Zfp26 A G 9: 20,348,803 (GRCm39) V587A possibly damaging Het
Zfp553 C T 7: 126,835,875 (GRCm39) R477C possibly 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
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'- GCAGAATTCCTCACTTTGGGG -3'
(R):5'- GACTGAACTAAGACACAAGTGC -3'

Sequencing Primer
(F):5'- GGCTGAGTCTGACCTTGAACTC -3'
(R):5'- TTTAATCCCAGCACTCAGGAGG -3'
Posted On 2016-10-26