Incidental Mutation 'R4449:Mlycd'
ID 328886
Institutional Source Beutler Lab
Gene Symbol Mlycd
Ensembl Gene ENSMUSG00000074064
Gene Name malonyl-CoA decarboxylase
Synonyms Mcd
MMRRC Submission 041710-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R4449 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 120121617-120137841 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120137144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 455 (Y455N)
Ref Sequence ENSEMBL: ENSMUSP00000095970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098367]
AlphaFold Q99J39
Predicted Effect probably damaging
Transcript: ENSMUST00000098367
AA Change: Y455N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095970
Gene: ENSMUSG00000074064
AA Change: Y455N

DomainStartEndE-ValueType
low complexity region 2 34 N/A INTRINSIC
Pfam:MCD 92 456 1.3e-120 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145121
Meta Mutation Damage Score 0.9684 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (47/48)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgap3 A T 15: 83,218,759 (GRCm39) Y105N probably damaging Het
Arid3b T A 9: 57,705,404 (GRCm39) K266* probably null Het
Bend3 A G 10: 43,388,079 (GRCm39) E824G possibly damaging Het
Bpifb6 A G 2: 153,748,688 (GRCm39) E228G possibly damaging Het
Cadm1 T A 9: 47,725,286 (GRCm39) probably benign Het
Cadm1 C T 9: 47,441,735 (GRCm39) A22V possibly damaging Het
Cntrob C A 11: 69,196,375 (GRCm39) D687Y probably benign Het
Dap3 A T 3: 88,857,185 (GRCm39) probably benign Het
Ddc T C 11: 11,785,802 (GRCm39) D295G probably damaging Het
Fut10 T A 8: 31,726,285 (GRCm39) Y347N probably damaging Het
Galnt2 A G 8: 125,022,116 (GRCm39) D14G probably benign Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Helz T C 11: 107,494,989 (GRCm39) V321A probably benign Het
Hnrnpul1 T C 7: 25,421,709 (GRCm39) probably benign Het
Hsdl2 T A 4: 59,617,692 (GRCm39) I353K possibly damaging Het
Igkv3-2 G A 6: 70,675,825 (GRCm39) A45T probably benign Het
Kcnh6 A G 11: 105,909,762 (GRCm39) Y429C probably damaging Het
Luzp1 T A 4: 136,268,174 (GRCm39) N132K probably damaging Het
Myl7 C T 11: 5,847,354 (GRCm39) D115N probably damaging Het
Or52s1 A T 7: 102,861,687 (GRCm39) I196F probably benign Het
Pcdh7 A G 5: 57,877,827 (GRCm39) T461A probably damaging Het
Pi4kb C T 3: 94,892,046 (GRCm39) S254L probably benign Het
Pitpnc1 A G 11: 107,107,535 (GRCm39) V257A probably benign Het
Prpf40b A G 15: 99,212,544 (GRCm39) D596G probably damaging Het
Rngtt T C 4: 33,330,865 (GRCm39) F156S probably damaging Het
Sema3c A G 5: 17,781,844 (GRCm39) probably benign Het
Shisa6 T C 11: 66,416,244 (GRCm39) T183A probably benign Het
Skint3 T A 4: 112,127,206 (GRCm39) V287E possibly damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Slc17a3 A T 13: 24,040,715 (GRCm39) S392C probably damaging Het
Snx14 T C 9: 88,305,052 (GRCm39) I81V probably benign Het
Tdrd6 C T 17: 43,940,626 (GRCm39) G141S probably benign Het
Trappc12 A T 12: 28,797,234 (GRCm39) D99E probably benign Het
Trim34b T C 7: 103,984,935 (GRCm39) C318R probably benign Het
Ttc39a T C 4: 109,299,500 (GRCm39) I449T possibly damaging Het
Twsg1 A C 17: 66,233,305 (GRCm39) V215G possibly damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Ubr1 A G 2: 120,776,862 (GRCm39) V293A possibly damaging Het
Unk G A 11: 115,944,460 (GRCm39) G404S probably damaging Het
Virma T C 4: 11,498,828 (GRCm39) probably null Het
Vps13b T C 15: 35,876,939 (GRCm39) V2864A possibly damaging Het
Wdfy4 T A 14: 32,818,040 (GRCm39) R1492W probably damaging Het
Zcchc3 G C 2: 152,256,642 (GRCm39) P19R probably benign 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
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
R7135:Mlycd UTSW 8 120,129,216 (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'- CTGTTCACGAGAGCCTCAAG -3'
(R):5'- AAGTAAGCCTGGCCCATCAG -3'

Sequencing Primer
(F):5'- TCAAGGGGTTCCTGAGCAG -3'
(R):5'- GAACACAGCCTCCTTTCTAAGAAGG -3'
Posted On 2015-07-21