Incidental Mutation 'R0786:Melk'
ID 76847
Institutional Source Beutler Lab
Gene Symbol Melk
Ensembl Gene ENSMUSG00000035683
Gene Name maternal embryonic leucine zipper kinase
Synonyms MPK38
MMRRC Submission 038966-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0786 (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 44303649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 14 (Y14C)
Ref Sequence ENSEMBL: ENSMUSP00000120242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045607] [ENSMUST00000125708] [ENSMUST00000137703]
AlphaFold Q61846
Predicted Effect unknown
Transcript: ENSMUST00000045607
AA Change: Y14C
SMART Domains Protein: ENSMUSP00000043806
Gene: ENSMUSG00000035683
AA Change: Y14C

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 unknown
Transcript: ENSMUST00000125708
AA Change: Y14C
SMART Domains Protein: ENSMUSP00000118359
Gene: ENSMUSG00000035683
AA Change: Y14C

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 unknown
Transcript: ENSMUST00000137703
AA Change: Y14C
SMART Domains Protein: ENSMUSP00000120242
Gene: ENSMUSG00000035683
AA Change: Y14C

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: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.6%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb3 T C 8: 27,716,880 (GRCm39) probably benign Het
Atg2b T C 12: 105,602,767 (GRCm39) H1592R probably benign Het
Bpifb1 C T 2: 154,044,581 (GRCm39) A16V probably benign Het
Cep57 T A 9: 13,721,166 (GRCm39) Y271F probably damaging Het
Cfap54 A T 10: 92,803,397 (GRCm39) N1548K possibly damaging Het
Chrna6 A T 8: 27,898,408 (GRCm39) D103E probably benign Het
Clec12b T C 6: 129,357,651 (GRCm39) N69S probably benign Het
Col27a1 T C 4: 63,209,815 (GRCm39) probably null Het
Cwh43 T A 5: 73,565,526 (GRCm39) Y30* probably null Het
Dnai7 A G 6: 145,127,483 (GRCm39) probably null Het
Dsg4 T C 18: 20,582,429 (GRCm39) probably null Het
Efna3 T C 3: 89,223,880 (GRCm39) N103S probably damaging Het
Efr3a A G 15: 65,725,400 (GRCm39) D532G possibly damaging Het
Fam227a A T 15: 79,510,469 (GRCm39) V395D probably benign Het
Fes T A 7: 80,036,668 (GRCm39) D93V probably damaging Het
Gbp3 T A 3: 142,276,732 (GRCm39) M510K possibly damaging Het
Gpr12 A T 5: 146,520,314 (GRCm39) S44T probably damaging Het
Gpr179 T C 11: 97,234,100 (GRCm39) N583S probably damaging Het
Hipk1 T C 3: 103,651,620 (GRCm39) T1093A probably benign Het
Hspb1 T C 5: 135,918,097 (GRCm39) L148P probably damaging Het
Kirrel3 A G 9: 34,946,161 (GRCm39) N640S probably damaging Het
Mak G T 13: 41,199,545 (GRCm39) Q365K probably benign Het
Myh7 T C 14: 55,230,330 (GRCm39) M1V probably null Het
Nsmf A G 2: 24,950,522 (GRCm39) Y330C probably damaging Het
Parp14 A G 16: 35,661,172 (GRCm39) F1592S possibly damaging Het
Pnpla6 A T 8: 3,573,317 (GRCm39) I394F probably benign Het
Ppl T C 16: 4,906,918 (GRCm39) R1126G probably damaging Het
Prss8 C T 7: 127,525,646 (GRCm39) R291Q probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rasgrp1 G T 2: 117,130,980 (GRCm39) D155E probably benign Het
Recql5 T C 11: 115,786,628 (GRCm39) I563V probably benign Het
Rhbg C T 3: 88,151,875 (GRCm39) M394I probably benign Het
Rnf130 A G 11: 49,978,264 (GRCm39) D275G probably damaging Het
Smg9 T C 7: 24,120,289 (GRCm39) F421S probably benign Het
Tgm2 T C 2: 157,966,301 (GRCm39) E451G probably damaging Het
Tle1 T A 4: 72,117,598 (GRCm39) T21S probably damaging Het
Tmc5 T C 7: 118,226,433 (GRCm39) I266T possibly damaging Het
Tmigd3 T A 3: 105,824,318 (GRCm39) C96S probably damaging Het
Trdn A T 10: 33,181,077 (GRCm39) T361S probably benign Het
Vgll3 A T 16: 65,657,568 (GRCm39) Q261L probably benign Het
Vmn2r104 A T 17: 20,262,987 (GRCm39) I158K probably benign Het
Zfp964 A G 8: 70,116,731 (GRCm39) K444E 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
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
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'- ctCCTCCACCCAGCTCTGTTTGCTT -3'
(R):5'- TCAGtctcactagcttcaccctagcattc -3'

Sequencing Primer
(F):5'- GATCATTTACATGCCTAAGCTTTGTG -3'
(R):5'- CCCAAATAGACCATACTTTGAA -3'
Posted On 2013-10-16