Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02976:Mlycd'

406386

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mlycd

Ensembl Gene

ENSMUSG00000074064

Gene Name

malonyl-CoA decarboxylase

Synonyms

Mcd

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

IGL02976

Quality Score

Status

Chromosome

Chromosomal Location

120121617-120137841 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120128224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 177 (M177T)

Ref Sequence

ENSEMBL: ENSMUSP00000095970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098367]

AlphaFold

Q99J39

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	G	9: 101,816,845 (GRCm39)	T84A	possibly damaging	Het
Adgrd1	T	A	5: 129,208,661 (GRCm39)	S288T	probably benign	Het
Ano7	T	A	1: 93,330,395 (GRCm39)	D806E	possibly damaging	Het
Arl6	A	G	16: 59,444,259 (GRCm39)	L79P	probably damaging	Het
Card6	A	T	15: 5,129,310 (GRCm39)	C695*	probably null	Het
Carmil1	T	C	13: 24,276,534 (GRCm39)	N610S	possibly damaging	Het
Cdc40	A	G	10: 40,758,917 (GRCm39)	V52A	probably benign	Het
Chd4	G	A	6: 125,098,331 (GRCm39)	R369H	probably damaging	Het
Clasp2	C	T	9: 113,735,204 (GRCm39)	P1031L	probably damaging	Het
Cldn34d	C	T	X: 75,626,690 (GRCm39)	A121T	probably benign	Het
Clmp	A	C	9: 40,692,520 (GRCm39)	Y263S	possibly damaging	Het
Cntn5	A	G	9: 10,419,104 (GRCm39)		probably benign	Het
Folh1	A	T	7: 86,412,126 (GRCm39)	M215K	probably benign	Het
Fut1	C	T	7: 45,268,744 (GRCm39)	R233C	probably damaging	Het
Gcdh	A	C	8: 85,615,207 (GRCm39)	Y398D	probably damaging	Het
Gm26741	T	G	10: 52,234,910 (GRCm39)	S16R	possibly damaging	Het
Jph3	T	A	8: 122,479,823 (GRCm39)	L167Q	probably damaging	Het
Jup	A	G	11: 100,269,192 (GRCm39)	V407A	probably benign	Het
Kif17	C	T	4: 137,996,374 (GRCm39)	A117V	probably damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Magi2	C	T	5: 20,739,473 (GRCm39)	P349S	probably damaging	Het
Mocos	A	G	18: 24,799,626 (GRCm39)	K287E	possibly damaging	Het
Morc2b	T	A	17: 33,356,497 (GRCm39)	H425L	possibly damaging	Het
Mrpl9	T	A	3: 94,355,084 (GRCm39)		probably benign	Het
Myo3a	G	A	2: 22,434,494 (GRCm39)	W825*	probably null	Het
Npas2	T	C	1: 39,326,565 (GRCm39)	S17P	probably damaging	Het
Nrk	A	G	X: 137,892,817 (GRCm39)	I1174V	probably benign	Het
Or1e32	A	G	11: 73,705,143 (GRCm39)	I255T	probably damaging	Het
Or4d11	A	T	19: 12,013,337 (GRCm39)	Y256*	probably null	Het
Or4k2	G	A	14: 50,423,889 (GRCm39)	Q262*	probably null	Het
Parpbp	A	G	10: 87,947,456 (GRCm39)		probably null	Het
Pcdh10	T	C	3: 45,334,448 (GRCm39)	V254A	possibly damaging	Het
Plod1	C	T	4: 147,997,778 (GRCm39)	V644I	probably damaging	Het
Ptpn1	T	C	2: 167,813,704 (GRCm39)	V149A	probably benign	Het
Rassf4	T	C	6: 116,615,209 (GRCm39)	E320G	probably damaging	Het
Rgl2	T	A	17: 34,152,936 (GRCm39)	D448E	possibly damaging	Het
Rnf32	C	T	5: 29,411,710 (GRCm39)		probably null	Het
Rpa1	T	A	11: 75,203,628 (GRCm39)	D358V	probably damaging	Het
Sdk2	T	C	11: 113,742,668 (GRCm39)	N747S	probably damaging	Het
Slc17a4	A	C	13: 24,089,407 (GRCm39)	M170R	probably damaging	Het
Slc5a4a	G	A	10: 76,006,527 (GRCm39)	V310M	possibly damaging	Het
Spag9	G	A	11: 93,974,779 (GRCm39)	R463H	probably benign	Het
Spmip5	A	T	19: 58,777,552 (GRCm39)	V78E	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Syt10	A	G	15: 89,698,682 (GRCm39)	S221P	probably benign	Het
Tlk1	T	A	2: 70,551,935 (GRCm39)	K579*	probably null	Het
Tubgcp3	T	C	8: 12,682,300 (GRCm39)	Y673C	probably damaging	Het
Vmn1r223	T	C	13: 23,434,165 (GRCm39)	F253S	probably damaging	Het
Vmn2r83	T	C	10: 79,304,832 (GRCm39)	M14T	probably benign	Het
Zfp59	A	G	7: 27,552,821 (GRCm39)	D91G	probably benign	Het

Other mutations in Mlycd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02481:Mlycd	APN	8	120,137,073 (GRCm39)	missense	probably damaging	1.00
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
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

Posted On

2016-08-02