Incidental Mutation 'R7135:Mlycd'
ID 553004
Institutional Source Beutler Lab
Gene Symbol Mlycd
Ensembl Gene ENSMUSG00000074064
Gene Name malonyl-CoA decarboxylase
Synonyms Mcd
MMRRC Submission 045247-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R7135 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 120121617-120137841 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120129216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 228 (R228W)
Ref Sequence ENSEMBL: ENSMUSP00000095970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098367]
AlphaFold Q99J39
Predicted Effect probably damaging
Transcript: ENSMUST00000098367
AA Change: R228W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095970
Gene: ENSMUSG00000074064
AA Change: R228W

DomainStartEndE-ValueType
low complexity region 2 34 N/A INTRINSIC
Pfam:MCD 92 456 1.3e-120 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (83/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded protein acts to increase the rate of fatty acid oxidation. It is found in mitochondria, peroxisomes, and the cytoplasm. Mutations in this gene result in malonyl-CoA decarboyxlase deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit altered cardiac metabolism following ischemia and improved recovery. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,819,887 (GRCm39) Y221* probably null Het
AC166344.1 T A 14: 43,158,245 (GRCm39) F97I Het
Ankmy2 T C 12: 36,246,311 (GRCm39) S412P probably benign Het
Ap1s3 T C 1: 79,586,919 (GRCm39) T144A probably benign Het
Armh2 T C 13: 24,925,489 (GRCm39) S78P probably benign Het
Asb3 T A 11: 30,948,501 (GRCm39) L59* probably null Het
Asxl3 G T 18: 22,650,758 (GRCm39) G916* probably null Het
Asxl3 G C 18: 22,650,759 (GRCm39) G916A probably damaging Het
Birc2 A C 9: 7,818,762 (GRCm39) F610V probably damaging Het
Camk4 G A 18: 33,240,996 (GRCm39) probably null Het
Ccdc162 A G 10: 41,549,855 (GRCm39) S343P probably benign Het
Ccnk T A 12: 108,152,734 (GRCm39) L17Q probably damaging Het
Cd59b G A 2: 103,914,792 (GRCm39) W63* probably null Het
Chrm3 C T 13: 9,927,837 (GRCm39) V400I probably benign Het
Crb1 C A 1: 139,171,105 (GRCm39) V762F probably damaging Het
Cspp1 C T 1: 10,159,161 (GRCm39) T529I possibly damaging Het
Cttnbp2 A G 6: 18,448,446 (GRCm39) I71T possibly damaging Het
Cyb561 C A 11: 105,826,393 (GRCm39) G90V probably damaging Het
Cyld T A 8: 89,471,520 (GRCm39) D804E possibly damaging Het
Ddx31 G A 2: 28,738,318 (GRCm39) V160I probably benign Het
Dgkg T C 16: 22,319,132 (GRCm39) D643G probably damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah12 T G 14: 26,523,370 (GRCm39) I1953S probably damaging Het
Dnah7b T C 1: 46,178,870 (GRCm39) W848R probably damaging Het
Dnah7c C T 1: 46,572,368 (GRCm39) T947M probably damaging Het
Dnmt3c C A 2: 153,556,872 (GRCm39) probably null Het
Dsp A T 13: 38,363,049 (GRCm39) Y443F probably damaging Het
Espl1 T A 15: 102,227,959 (GRCm39) C1603* probably null Het
Faiml G T 9: 99,116,496 (GRCm39) R65S probably benign Het
Gfpt2 T C 11: 49,695,782 (GRCm39) I4T probably damaging Het
Gm10376 T A 14: 42,867,950 (GRCm39) M179L probably benign Het
Gm4302 T A 10: 100,177,589 (GRCm39) M291K unknown Het
Gnb1l T A 16: 18,363,918 (GRCm39) D154E probably benign Het
Igkv10-94 T C 6: 68,681,727 (GRCm39) R38G possibly damaging Het
Inmt A T 6: 55,148,013 (GRCm39) Y205* probably null Het
Krba1 A G 6: 48,393,233 (GRCm39) Q1049R probably benign Het
Lpxn T A 19: 12,810,683 (GRCm39) C376S probably damaging Het
Lrrc52 T A 1: 167,294,019 (GRCm39) I89F probably damaging Het
Map9 A T 3: 82,270,765 (GRCm39) T110S probably benign Het
Mccc1 T C 3: 36,049,967 (GRCm39) Y75C probably damaging Het
Mff T A 1: 82,724,812 (GRCm39) L203* probably null Het
Micall1 C A 15: 78,993,624 (GRCm39) D47E unknown Het
Mink1 T C 11: 70,494,329 (GRCm39) F243S probably damaging Het
Msr1 A T 8: 40,042,465 (GRCm39) V370E possibly damaging Het
Naip6 T C 13: 100,436,927 (GRCm39) E532G probably damaging Het
Nepn G A 10: 52,267,815 (GRCm39) C27Y probably damaging Het
Ninl T C 2: 150,797,524 (GRCm39) H592R probably benign Het
Nr4a2 A G 2: 57,002,261 (GRCm39) M64T possibly damaging Het
Oprm1 A T 10: 6,780,203 (GRCm39) I171F possibly damaging Het
Or4g16 T A 2: 111,137,365 (GRCm39) F272I probably benign Het
Or5p60 T C 7: 107,723,781 (GRCm39) K230E probably damaging Het
Pcbp1 A T 6: 86,502,488 (GRCm39) M137K possibly damaging Het
Pcf11 A T 7: 92,306,524 (GRCm39) S1215T probably benign Het
Pdlim5 A T 3: 142,017,683 (GRCm39) probably null Het
Pecam1 T C 11: 106,579,857 (GRCm39) I402V probably damaging Het
Pex12 T C 11: 83,188,468 (GRCm39) T176A probably benign Het
Phf3 T C 1: 30,870,190 (GRCm39) K286R possibly damaging Het
Pik3ap1 T A 19: 41,320,760 (GRCm39) D153V probably damaging Het
Pkhd1l1 T A 15: 44,448,374 (GRCm39) probably null Het
Plekhn1 A G 4: 156,307,792 (GRCm39) V378A probably benign Het
Pramel26 A T 4: 143,537,233 (GRCm39) L366Q probably damaging Het
Ptprm A T 17: 67,251,283 (GRCm39) D531E possibly damaging Het
Pum2 A T 12: 8,778,952 (GRCm39) Q508L possibly damaging Het
Rad54l A G 4: 115,963,027 (GRCm39) S324P probably damaging Het
Recql5 C T 11: 115,821,498 (GRCm39) probably null Het
Reln A T 5: 22,181,594 (GRCm39) V1763D possibly damaging Het
Rp1 T C 1: 4,418,391 (GRCm39) N907S possibly damaging Het
Scaf11 T A 15: 96,318,209 (GRCm39) N452Y possibly damaging Het
Scgb2b3 T A 7: 31,059,639 (GRCm39) H45L possibly damaging Het
Sim1 A G 10: 50,772,023 (GRCm39) T11A probably damaging Het
Slc5a12 T A 2: 110,447,059 (GRCm39) M189K possibly damaging Het
Slco2b1 C T 7: 99,344,270 (GRCm39) G10S probably null Het
Speer1j C T 5: 11,555,198 (GRCm39) P83S probably damaging Het
Stxbp3 A G 3: 108,708,071 (GRCm39) L410P probably damaging Het
Sugct T C 13: 17,476,594 (GRCm39) N297D probably benign Het
Syne1 A G 10: 5,183,409 (GRCm39) I4132T probably benign Het
Teddm1b A T 1: 153,750,912 (GRCm39) L240F probably damaging Het
Tlr5 C A 1: 182,803,088 (GRCm39) D797E possibly damaging Het
Tmprss13 G T 9: 45,249,643 (GRCm39) G327C probably damaging Het
Tnrc18 G T 5: 142,773,572 (GRCm39) A419D Het
Ttc28 T C 5: 111,427,873 (GRCm39) Y1790H probably damaging Het
Vmn1r125 T G 7: 21,006,327 (GRCm39) M75R probably damaging Het
Vwa3a T A 7: 120,372,253 (GRCm39) D276E possibly damaging Het
Wdfy3 C T 5: 102,063,303 (GRCm39) V1322M probably damaging Het
Wdr11 T C 7: 129,229,830 (GRCm39) S872P possibly damaging Het
Zc3h13 T C 14: 75,559,161 (GRCm39) S357P unknown Het
Other mutations in Mlycd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02481:Mlycd APN 8 120,137,073 (GRCm39) missense probably damaging 1.00
IGL02976:Mlycd APN 8 120,128,224 (GRCm39) missense possibly damaging 0.70
PIT4142001:Mlycd UTSW 8 120,137,199 (GRCm39) missense probably damaging 1.00
R0026:Mlycd UTSW 8 120,137,174 (GRCm39) missense probably benign
R0164:Mlycd UTSW 8 120,134,380 (GRCm39) missense probably damaging 1.00
R0164:Mlycd UTSW 8 120,134,380 (GRCm39) missense probably damaging 1.00
R1531:Mlycd UTSW 8 120,128,258 (GRCm39) nonsense probably null
R2508:Mlycd UTSW 8 120,134,446 (GRCm39) critical splice donor site probably null
R4449:Mlycd UTSW 8 120,137,144 (GRCm39) missense probably damaging 1.00
R5061:Mlycd UTSW 8 120,137,043 (GRCm39) missense probably damaging 1.00
R5781:Mlycd UTSW 8 120,137,019 (GRCm39) missense probably damaging 1.00
R8194:Mlycd UTSW 8 120,134,332 (GRCm39) missense probably benign 0.09
R9778:Mlycd UTSW 8 120,129,325 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAGGCTTGCATGGAACTGAT -3'
(R):5'- AGTATCCATGAGAGTTTAAAGTGGAC -3'

Sequencing Primer
(F):5'- CCAAGTCCTCTAGAAACAGGTGTTG -3'
(R):5'- AGTTCAAAGCTAGCCTGGTC -3'
Posted On 2019-05-15