Incidental Mutation 'IGL02976:Mlycd'
ID406386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mlycd
Ensembl Gene ENSMUSG00000074064
Gene Namemalonyl-CoA decarboxylase
SynonymsMcd
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.140) question?
Stock #IGL02976
Quality Score
Status
Chromosome8
Chromosomal Location119394878-119411102 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 119401485 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 177 (M177T)
Ref Sequence ENSEMBL: ENSMUSP00000095970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098367]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098367
AA Change: M177T

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095970
Gene: ENSMUSG00000074064
AA Change: M177T

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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019N19Rik A T 19: 58,789,120 V78E probably benign Het
9630041A04Rik A G 9: 101,939,646 T84A possibly damaging Het
Adgrd1 T A 5: 129,131,597 S288T probably benign Het
Ano7 T A 1: 93,402,673 D806E possibly damaging Het
Arl6 A G 16: 59,623,896 L79P probably damaging Het
Card6 A T 15: 5,099,828 C695* probably null Het
Carmil1 T C 13: 24,092,551 N610S possibly damaging Het
Cdc40 A G 10: 40,882,921 V52A probably benign Het
Chd4 G A 6: 125,121,368 R369H probably damaging Het
Clasp2 C T 9: 113,906,136 P1031L probably damaging Het
Cldn34d C T X: 76,583,084 A121T probably benign Het
Clmp A C 9: 40,781,224 Y263S possibly damaging Het
Cntn5 A G 9: 10,419,099 probably benign Het
Folh1 A T 7: 86,762,918 M215K probably benign Het
Fut1 C T 7: 45,619,320 R233C probably damaging Het
Gcdh A C 8: 84,888,578 Y398D probably damaging Het
Gm26741 T G 10: 52,358,814 S16R possibly damaging Het
Jph3 T A 8: 121,753,084 L167Q probably damaging Het
Jup A G 11: 100,378,366 V407A probably benign Het
Kif17 C T 4: 138,269,063 A117V probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Magi2 C T 5: 20,534,475 P349S probably damaging Het
Mocos A G 18: 24,666,569 K287E possibly damaging Het
Morc2b T A 17: 33,137,523 H425L possibly damaging Het
Mrpl9 T A 3: 94,447,777 probably benign Het
Myo3a G A 2: 22,542,452 W825* probably null Het
Npas2 T C 1: 39,287,484 S17P probably damaging Het
Nrk A G X: 138,992,068 I1174V probably benign Het
Olfr1423 A T 19: 12,035,973 Y256* probably null Het
Olfr392 A G 11: 73,814,317 I255T probably damaging Het
Olfr730 G A 14: 50,186,432 Q262* probably null Het
Parpbp A G 10: 88,111,594 probably null Het
Pcdh10 T C 3: 45,380,013 V254A possibly damaging Het
Plod1 C T 4: 147,913,321 V644I probably damaging Het
Ptpn1 T C 2: 167,971,784 V149A probably benign Het
Rassf4 T C 6: 116,638,248 E320G probably damaging Het
Rgl2 T A 17: 33,933,962 D448E possibly damaging Het
Rnf32 C T 5: 29,206,712 probably null Het
Rpa1 T A 11: 75,312,802 D358V probably damaging Het
Sdk2 T C 11: 113,851,842 N747S probably damaging Het
Slc17a4 A C 13: 23,905,424 M170R probably damaging Het
Slc5a4a G A 10: 76,170,693 V310M possibly damaging Het
Spag9 G A 11: 94,083,953 R463H probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Syt10 A G 15: 89,814,479 S221P probably benign Het
Tlk1 T A 2: 70,721,591 K579* probably null Het
Tubgcp3 T C 8: 12,632,300 Y673C probably damaging Het
Vmn1r223 T C 13: 23,249,995 F253S probably damaging Het
Vmn2r83 T C 10: 79,468,998 M14T probably benign Het
Zfp59 A G 7: 27,853,396 D91G probably benign Het
Other mutations in Mlycd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02481:Mlycd APN 8 119410334 missense probably damaging 1.00
PIT4142001:Mlycd UTSW 8 119410460 missense probably damaging 1.00
R0026:Mlycd UTSW 8 119410435 missense probably benign
R0164:Mlycd UTSW 8 119407641 missense probably damaging 1.00
R0164:Mlycd UTSW 8 119407641 missense probably damaging 1.00
R1531:Mlycd UTSW 8 119401519 nonsense probably null
R2508:Mlycd UTSW 8 119407707 critical splice donor site probably null
R4449:Mlycd UTSW 8 119410405 missense probably damaging 1.00
R5061:Mlycd UTSW 8 119410304 missense probably damaging 1.00
R5781:Mlycd UTSW 8 119410280 missense probably damaging 1.00
R7135:Mlycd UTSW 8 119402477 missense probably damaging 1.00
Posted On2016-08-02