Incidental Mutation 'R5781:Mlycd'
ID 447735
Institutional Source Beutler Lab
Gene Symbol Mlycd
Ensembl Gene ENSMUSG00000074064
Gene Name malonyl-CoA decarboxylase
Synonyms Mcd
MMRRC Submission 043378-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R5781 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 120121617-120137841 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120137019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 413 (Y413C)
Ref Sequence ENSEMBL: ENSMUSP00000095970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098367]
AlphaFold Q99J39
Predicted Effect probably damaging
Transcript: ENSMUST00000098367
AA Change: Y413C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095970
Gene: ENSMUSG00000074064
AA Change: Y413C

DomainStartEndE-ValueType
low complexity region 2 34 N/A INTRINSIC
Pfam:MCD 92 456 1.3e-120 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145121
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 109,992,813 (GRCm39) L1617P probably damaging Het
Abhd16b T C 2: 181,135,947 (GRCm39) V283A probably damaging Het
Adamts19 G T 18: 58,971,040 (GRCm39) R208L possibly damaging Het
Adamts4 T C 1: 171,078,584 (GRCm39) I56T possibly damaging Het
Alpk1 A C 3: 127,473,684 (GRCm39) V773G possibly damaging Het
Arhgap10 G T 8: 78,177,336 (GRCm39) Q100K possibly damaging Het
Arhgef18 T A 8: 3,489,439 (GRCm39) probably null Het
Asb15 A T 6: 24,564,377 (GRCm39) H277L probably benign Het
Ascc3 T A 10: 50,514,074 (GRCm39) V291E probably damaging Het
Cnot6l A C 5: 96,234,024 (GRCm39) V329G probably benign Het
Col14a1 A G 15: 55,286,908 (GRCm39) T910A unknown Het
Dhdds G A 4: 133,724,141 (GRCm39) L58F probably damaging Het
Dsc2 A G 18: 20,165,567 (GRCm39) I846T probably benign Het
Evc A T 5: 37,483,914 (GRCm39) S129T probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fyco1 A G 9: 123,623,898 (GRCm39) V1377A probably damaging Het
Haus6 C T 4: 86,519,500 (GRCm39) A203T possibly damaging Het
Hkdc1 T G 10: 62,253,712 (GRCm39) D23A probably damaging Het
Hpdl C T 4: 116,677,775 (GRCm39) V229M probably damaging Het
Hspa12a T C 19: 58,810,518 (GRCm39) Y175C probably damaging Het
Hyal1 C T 9: 107,454,866 (GRCm39) P59S probably damaging Het
Itpr1 G A 6: 108,487,699 (GRCm39) C2374Y probably benign Het
Kmt2a A T 9: 44,759,139 (GRCm39) Y114* probably null Het
Mc2r A T 18: 68,540,468 (GRCm39) I275K probably damaging Het
Mc2r A T 18: 68,540,466 (GRCm39) Y276N possibly damaging Het
Mocs2 T G 13: 114,957,455 (GRCm39) S86R probably damaging Het
Msx2 C A 13: 53,626,644 (GRCm39) A35S probably benign Het
Or6c201 A T 10: 128,969,016 (GRCm39) L207H probably damaging Het
Pla2g4f C A 2: 120,135,504 (GRCm39) S390I probably damaging Het
Plcl1 C T 1: 55,735,148 (GRCm39) A163V possibly damaging Het
Pnn T C 12: 59,118,605 (GRCm39) V396A probably damaging Het
Rbmxl1 G A 8: 79,232,270 (GRCm39) probably benign Het
Recql G T 6: 142,311,344 (GRCm39) probably null Het
Rev3l T A 10: 39,699,089 (GRCm39) N1195K probably benign Het
Rfwd3 G A 8: 111,999,716 (GRCm39) T754M probably benign Het
Sctr A G 1: 119,959,350 (GRCm39) T98A probably damaging Het
Sdk1 T A 5: 141,921,803 (GRCm39) D6E probably benign Het
Smpdl3a T A 10: 57,684,034 (GRCm39) I264K possibly damaging Het
Spag6 A G 2: 18,736,804 (GRCm39) I154V probably benign Het
Tbc1d12 A C 19: 38,871,127 (GRCm39) T297P probably benign Het
Tgfb1 A G 7: 25,396,385 (GRCm39) D226G probably benign Het
Ubr3 G T 2: 69,846,588 (GRCm39) probably null Het
Ubr4 T C 4: 139,195,407 (GRCm39) Y1210H probably damaging Het
Ubr5 T C 15: 38,006,785 (GRCm39) T1157A probably benign Het
Vmn2r120 T G 17: 57,831,938 (GRCm39) T284P probably benign Het
Vps13b G T 15: 35,794,181 (GRCm39) A2286S probably damaging Het
Zcchc14 A T 8: 122,331,332 (GRCm39) probably benign Het
Zfr2 T A 10: 81,079,547 (GRCm39) V362E 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
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
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'- CACAGACTCAGAGTGCCAAG -3'
(R):5'- TTGTTCTGGAACTGGGCTAC -3'

Sequencing Primer
(F):5'- GTGCCAAGAAATCTCAGCGGTTAC -3'
(R):5'- TACCAGGCTGAGGATCTGCTC -3'
Posted On 2016-12-15